diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index d8e67fad52..f69d9e745c 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -2351,7 +2351,9 @@ id: MONDO:0000250 name: osmotic diarrheal disease def: "A diarrhea that results from the presence of osmotically active, poorly absorbed solutes in the bowel lumen that inhibit normal water and electrolyte absorption." [https://www.ncbi.nlm.nih.gov/books/NBK414/] synonym: "osmotic diarrhea" EXACT [] +synonym: "osmotic diarrhoea" EXACT OMO:0003005 [] synonym: "permeability diarrhea" EXACT [MONDO:cjm] +synonym: "permeability diarrhoea" EXACT OMO:0003005 [] xref: DOID:0050130 {source="MONDO:equivalentTo"} xref: MEDGEN:540779 {source="UMLS:C0267556"} xref: SCTID:2946003 {source="MONDO:equivalentTo", source="UMLS:C0267556"} @@ -2365,7 +2367,9 @@ id: MONDO:0000251 name: diarrheal disease secondary to altered bowel motility def: "A diarrhea that results from either increased or decreased motility in the bowel." [https://www.ncbi.nlm.nih.gov/books/NBK414/] synonym: "diarrhea secondary to altered bowel motility" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK414/] +synonym: "diarrhoea secondary to altered bowel motility" EXACT OMO:0003005 [] synonym: "motility-related diarrhea" EXACT [] +synonym: "motility-related diarrhoea" EXACT OMO:0003005 [] is_a: MONDO:0001673 {source="DOID:0050131", source="MONDO:Redundant"} ! diarrheal disease intersection_of: MONDO:0001673 ! diarrheal disease intersection_of: disease_arises_from_feature HP:0030895 ! Abnormal gastrointestinal motility @@ -2448,6 +2452,7 @@ synonym: "acute diarrheal disease" EXACT [MONDO:design_pattern] synonym: "diarrhea (disease), acute" EXACT [MONDO:patterns/acute] synonym: "diarrhea, acute" EXACT [MONDO:patterns/acute] synonym: "diarrheal disease, acute" EXACT [MONDO:design_pattern, MONDO:patterns/acute] +synonym: "diarrhoea (disease), acute" EXACT OMO:0003005 [] xref: DOID:0050140 {source="MONDO:equivalentTo"} xref: SCTID:409966000 {source="MONDO:equivalentTo"} xref: UMLS:C0740441 {source="MONDO:equivalentTo"} @@ -3936,6 +3941,7 @@ synonym: "Leydig cell cancer" EXACT [MONDO:patterns/location] synonym: "Leydig cell tumor, malignant" EXACT [MONDO:patterns/malignant, NCIT:C4213] synonym: "malignant interstitial cell neoplasm" EXACT [NCIT:C4213] synonym: "malignant interstitial cell tumor" RELATED [DOID:0050616] +synonym: "malignant interstitial cell tumour" RELATED OMO:0003005 [] synonym: "malignant Leydig cell neoplasm" EXACT [DOID:0050616, MONDO:patterns/cancer, NCIT:C4213] synonym: "malignant neoplasm of Leydig cell" EXACT [MONDO:patterns/cancer] xref: DOID:0050616 {source="MONDO:equivalentObsolete"} @@ -4056,6 +4062,7 @@ name: bladder benign neoplasm def: "A benign abnormal growth of the cells that comprise the bladder." [NCIT:P378] synonym: "benign bladder neoplasm" EXACT [NCIT:C3618] synonym: "benign bladder tumor" EXACT [NCIT:C3618] +synonym: "benign bladder tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of bladder" EXACT [NCIT:C3618] synonym: "benign neoplasm of the bladder" EXACT [NCIT:C3618] synonym: "benign neoplasm of the urinary bladder" EXACT [NCIT:C3618] @@ -4064,8 +4071,13 @@ synonym: "benign tumor of bladder" EXACT [NCIT:C3618] synonym: "benign tumor of the bladder" EXACT [NCIT:C3618] synonym: "benign tumor of the urinary bladder" EXACT [NCIT:C3618] synonym: "benign tumor of urinary bladder" EXACT [NCIT:C3618] +synonym: "benign tumour of bladder" EXACT OMO:0003005 [] +synonym: "benign tumour of the bladder" EXACT OMO:0003005 [] +synonym: "benign tumour of the urinary bladder" EXACT OMO:0003005 [] +synonym: "benign tumour of urinary bladder" EXACT OMO:0003005 [] synonym: "benign urinary bladder neoplasm" EXACT [NCIT:C3618] synonym: "benign urinary bladder tumor" EXACT [NCIT:C3618] +synonym: "benign urinary bladder tumour" EXACT OMO:0003005 [] synonym: "urinary bladder benign neoplasm" EXACT [MONDO:patterns/location] xref: DOID:0050623 {source="MONDO:equivalentTo"} xref: ICD9:223.3 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -4083,13 +4095,18 @@ name: benign digestive system neoplasm def: "A non-metastasizing neoplasm arising from any part of the digestive system." [NCIT:P378] synonym: "alimentary part of gastrointestinal system benign neoplasm" EXACT [MONDO:patterns/location] synonym: "benign digestive system tumor" EXACT [NCIT:C4787] +synonym: "benign digestive system tumour" EXACT OMO:0003005 [] synonym: "benign gastrointestinal neoplasm" EXACT [NCIT:C4787] synonym: "benign gastrointestinal system tumor" EXACT [NCIT:C4787] +synonym: "benign gastrointestinal system tumour" EXACT OMO:0003005 [] synonym: "benign gastrointestinal tumor" EXACT [NCIT:C4787] +synonym: "benign gastrointestinal tumour" EXACT OMO:0003005 [] synonym: "benign GI neoplasm" EXACT [NCIT:C4787] synonym: "benign GI system neoplasm" EXACT [NCIT:C4787] synonym: "benign GI system tumor" EXACT [NCIT:C4787] +synonym: "benign GI system tumour" EXACT OMO:0003005 [] synonym: "benign GI tumor" EXACT [NCIT:C4787] +synonym: "benign GI tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of digestive system" EXACT [NCIT:C4787] synonym: "benign neoplasm of gastrointestinal system" EXACT [NCIT:C4787] synonym: "benign neoplasm of the digestive system" EXACT [NCIT:C4787] @@ -4099,6 +4116,12 @@ synonym: "benign tumor of GI system" EXACT [NCIT:C4787] synonym: "benign tumor of the digestive system" EXACT [NCIT:C4787] synonym: "benign tumor of the gastrointestinal system" EXACT [NCIT:C4787] synonym: "benign tumor of the GI system" EXACT [NCIT:C4787] +synonym: "benign tumour of digestive system" EXACT OMO:0003005 [] +synonym: "benign tumour of gastrointestinal system" EXACT OMO:0003005 [] +synonym: "benign tumour of GI system" EXACT OMO:0003005 [] +synonym: "benign tumour of the digestive system" EXACT OMO:0003005 [] +synonym: "benign tumour of the gastrointestinal system" EXACT OMO:0003005 [] +synonym: "benign tumour of the GI system" EXACT OMO:0003005 [] synonym: "gastrointestinal system benign neoplasm" RELATED [DOID:0050624] xref: DOID:0050624 {source="MONDO:equivalentTo"} xref: NCIT:C4787 {source="MONDO:equivalentTo"} @@ -4114,17 +4137,25 @@ id: MONDO:0000386 name: digestive system neuroendocrine tumor, grade 1/2 def: "A well-differentiated neuroendocrine tumor arising from the digestive system. It is characterized by the presence of cells with features similar to those of the normal endocrine cells of the digestive system. The neoplastic cells express immunohistochemical evidence of neuroendocrine differentiation and hormones. There is mild to moderate nuclear atypia and less than 20 mitoses per 10 HPF. It includes well-differentiated endocrine tumors or carcinoid tumors and well-differentiated endocrine carcinomas." [NCIT:P378] synonym: "alimentary part of gastrointestinal system neuroendocrine tumor" BROAD [MONDO:patterns/location] +synonym: "alimentary part of gastrointestinal system neuroendocrine tumour" BROAD OMO:0003005 [] synonym: "digestive system NET" BROAD [NCIT:C95404] synonym: "digestive system neuroendocrine tumor" BROAD [NCIT:C95404] +synonym: "digestive system neuroendocrine tumour" BROAD OMO:0003005 [] synonym: "digestive system well differentiated neuroendocrine tumor" BROAD [NCIT:C95404] +synonym: "digestive system well differentiated neuroendocrine tumour" BROAD OMO:0003005 [] synonym: "gastroenteropancreatic NET" BROAD [NCIT:C95404] synonym: "gastroenteropancreatic neuroendocrine tumor" BROAD [NCIT:C95404] +synonym: "gastroenteropancreatic neuroendocrine tumour" BROAD OMO:0003005 [] synonym: "gastrointestinal NET" BROAD [NCIT:C95404] synonym: "gastrointestinal neuroendocrine tumor" BROAD [NCIT:C95404] synonym: "gastrointestinal neuroendocrine tumors" BROAD [ONCOTREE:GINET] +synonym: "gastrointestinal neuroendocrine tumour" BROAD OMO:0003005 [] +synonym: "gastrointestinal neuroendocrine tumours" BROAD OMO:0003005 [] synonym: "gastrointestinal system neuroendocrine tumor" BROAD [NCIT:C95404] +synonym: "gastrointestinal system neuroendocrine tumour" BROAD OMO:0003005 [] synonym: "GINET" RELATED ABBREVIATION [ONCOTREE:GINET] synonym: "malignant gastrointestinal neuroendocrine tumor" NARROW [DOID:0050626] +synonym: "malignant gastrointestinal neuroendocrine tumour" NARROW OMO:0003005 [] xref: DOID:0050626 {source="MONDO:equivalentTo"} xref: NCIT:C95404 {source="MONDO:equivalentTo"} xref: ONCOTREE:GINET {source="MONDO:equivalentTo"} @@ -4140,6 +4171,7 @@ intersection_of: has_characteristic MONDO:0024495 ! tumor grade 1 or 2, general id: MONDO:0000387 name: hypochromic microcytic anemia def: "Anemia in which the circulating RBCs are smaller than the usual size of RBCs (microcytic) and have decreased red color (hypochromic)." [https://www.ncbi.nlm.nih.gov/books/NBK470252/, MONDO:cjm] +synonym: "hypochromic microcytic anaemia (disease)" EXACT OMO:0003005 [] synonym: "hypochromic microcytic anemia" EXACT [MONDO:ambiguous] synonym: "hypochromic microcytic anemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:0050642 {source="MONDO:equivalentTo"} @@ -4377,9 +4409,14 @@ synonym: "FASDs" RELATED [MESH:D063647] synonym: "fetal alcohol spectrum disorders" EXACT [MONDO:0021720] synonym: "fetal alcohol syndrome" RELATED [MESH:D063647] synonym: "fetal alcohol syndrome (FAS) - type" RELATED [GARD:0000599] +synonym: "foetal alcohol spectrum disorders" EXACT OMO:0003005 [] +synonym: "foetal alcohol syndrome" RELATED OMO:0003005 [] +synonym: "foetal alcohol syndrome (FAS) - type" RELATED OMO:0003005 [] synonym: "growth retardation, facial abnormalities, and central nervous system dysfunction" RELATED [MESH:D063647] synonym: "partial fetal alcohol syndrome" RELATED [MESH:D063647] +synonym: "partial foetal alcohol syndrome" RELATED OMO:0003005 [] synonym: "syndrome, fetal alcohol" RELATED [MESH:D063647] +synonym: "syndrome, foetal alcohol" RELATED OMO:0003005 [] xref: DOID:0050696 {source="MONDO:equivalentTo"} xref: MESH:D063647 {source="MONDO:equivalentTo"} xref: NCIT:C92780 {source="MONDO:equivalentTo"} @@ -4395,7 +4432,9 @@ id: MONDO:0000409 name: chorioamnionitis def: "A morphologic finding indicating inflammation of the fetal sac membranes. It is characterized by neutrophilic infiltration of the amnion and chorion." [NCIT:C26720] synonym: "fetal membrane inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] +synonym: "foetal membrane inflammation" EXACT OMO:0003005 [] synonym: "inflammation of fetal membrane" EXACT [] +synonym: "inflammation of foetal membrane" EXACT OMO:0003005 [] synonym: "intra-amniotic infection" EXACT [Wikipedia:Chorioamnionitis] xref: DOID:0050697 {source="MONDO:equivalentTo"} xref: MESH:D002821 {source="MONDO:equivalentTo"} @@ -4450,6 +4489,7 @@ id: MONDO:0000414 name: childhood electroclinical syndrome def: "A electroclinical syndrome that occurs during childhood." [MONDO:design_pattern] synonym: "electroclinical syndrome of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] +synonym: "paediatric electroclinical syndrome" EXACT OMO:0003005 [] synonym: "pediatric electroclinical syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] xref: DOID:0050704 {source="MONDO:equivalentTo"} is_a: MONDO:0000411 {source="DOID:0050704", source="MONDO:Redundant"} ! electroclinical syndrome @@ -4862,10 +4902,14 @@ synonym: "paraganglioma" EXACT CLINGEN_PREFERRED [NCIT:C3308] synonym: "paragangliomas" EXACT [OMIMPS:168000] synonym: "paraganglion neoplasm" EXACT [NCIT:C3308] synonym: "paraganglion tumor" EXACT [NCIT:C3308] +synonym: "paraganglion tumour" EXACT OMO:0003005 [] synonym: "Paraganglionic neoplasm" EXACT [NCIT:C3308] synonym: "Paraganglionic tumor" EXACT [NCIT:C3308] +synonym: "Paraganglionic tumour" EXACT OMO:0003005 [] synonym: "tumor of paraganglion" EXACT [NCIT:C3308] synonym: "tumor of the paraganglion" EXACT [NCIT:C3308] +synonym: "tumour of paraganglion" EXACT OMO:0003005 [] +synonym: "tumour of the paraganglion" EXACT OMO:0003005 [] xref: DOID:0050773 {source="MONDO:equivalentTo"} xref: EFO:1000453 {source="MONDO:equivalentTo"} xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -5329,6 +5373,7 @@ synonym: "dystonias, Idiopathic torsion" RELATED [MESH:D004422] synonym: "dystonias, torsion" RELATED [MESH:D004422] synonym: "familial dystonia" RELATED [DOID:0050835] synonym: "fragments of torsion dystonia" RELATED [DOID:0050835] +synonym: "generalised isolated dystonia" EXACT OMO:0003005 [] synonym: "generalized isolated dystonia" EXACT [MONDO:0018303] synonym: "idiopathic familial dystonia" RELATED [DOID:0050835] synonym: "idiopathic non-familial dystonia" RELATED [DOID:0050835] @@ -5556,7 +5601,9 @@ relationship: disease_has_location UBERON:0000074 ! renal glomerulus id: MONDO:0000491 name: limb ischemia def: "A ischemia that involves the limb." [MONDO:patterns/location] +synonym: "ischaemic disease of limb" EXACT OMO:0003005 [] synonym: "ischemic disease of limb" EXACT [MONDO:design_pattern] +synonym: "limb ischaemic disease" EXACT OMO:0003005 [] synonym: "limb ischemia" EXACT [MONDO:patterns/location] synonym: "limb ischemic disease" EXACT [MONDO:patterns/location] xref: DOID:0050852 {source="MONDO:equivalentTo"} @@ -5660,6 +5707,7 @@ id: MONDO:0000499 name: non-arteritic anterior ischemic optic neuropathy synonym: "NAION" EXACT ABBREVIATION [Orphanet:415300] synonym: "non-arteritic aion" EXACT [Wikipedia:Arteritic_anterior_ischemic_optic_neuropathy] +synonym: "nonarteritic anterior ischaemic optic neuropathy" EXACT OMO:0003005 [] synonym: "nonarteritic anterior ischemic optic neuropathy" EXACT [DOID:0050864] xref: DOID:0050864 {source="MONDO:equivalentTo"} xref: Orphanet:415300 {source="MONDO:equivalentObsolete"} @@ -5932,6 +5980,7 @@ id: MONDO:0000520 name: parietal lobe ependymal tumor def: "An ependymal tumor affecting the parietal lobe of the brain." [NCIT:C131575] synonym: "ependymal tumor of parietal lobe" EXACT [MONDO:design_pattern] +synonym: "ependymal tumour of parietal lobe" EXACT OMO:0003005 [] synonym: "parietal lobe ependymal tumor" EXACT [MONDO:patterns/location, NCIT:C131575] synonym: "parietal lobe ependymoma" RELATED [DOID:0050903] xref: DOID:0050903 {source="MONDO:equivalentTo"} @@ -6152,6 +6201,7 @@ id: MONDO:0000539 name: striated muscle rhabdoid tumor def: "A rhabdoid tumor that involves the striated muscle tissue." [MONDO:patterns/location] synonym: "striated muscle tissue rhabdoid tumor" EXACT [MONDO:patterns/location] +synonym: "striated muscle tissue rhabdoid tumour" EXACT OMO:0003005 [] xref: DOID:0050924 {source="MONDO:equivalentTo"} is_a: MONDO:0005864 {source="DOID:0050924", source="MONDO:Entailed", source="MONDO:Redundant"} ! muscle cancer intersection_of: MONDO:0002728 ! rhabdoid tumor @@ -6165,14 +6215,23 @@ synonym: "carcinoid tumor of small bowel" EXACT [NCIT:C4638] synonym: "carcinoid tumor of small intestine" EXACT [NCIT:C4638] synonym: "carcinoid tumor of the small bowel" EXACT [NCIT:C4638] synonym: "carcinoid tumor of the small intestine" EXACT [NCIT:C4638] +synonym: "carcinoid tumour of small bowel" EXACT OMO:0003005 [] +synonym: "carcinoid tumour of small intestine" EXACT OMO:0003005 [] +synonym: "carcinoid tumour of the small bowel" EXACT OMO:0003005 [] +synonym: "carcinoid tumour of the small intestine" EXACT OMO:0003005 [] synonym: "grade 1 neuroendocrine neoplasm of small intestine" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] synonym: "small bowel carcinoid tumor" EXACT [NCIT:C4638] +synonym: "small bowel carcinoid tumour" EXACT OMO:0003005 [] synonym: "small intestinal carcinoid tumor" EXACT [NCIT:C4638] +synonym: "small intestinal carcinoid tumour" EXACT OMO:0003005 [] synonym: "small intestinal NET G1" EXACT [NCIT:C4638] synonym: "small intestinal neuroendocrine tumor G1" EXACT [NCIT:C4638] synonym: "small intestine carcinoid neuroendocrine tumor" RELATED [DOID:0050925] +synonym: "small intestine carcinoid neuroendocrine tumour" RELATED OMO:0003005 [] synonym: "small intestine carcinoid tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1, NCIT:C4638] synonym: "small intestine carcinoid tumor (disease)" EXACT [MONDO:patterns/location] +synonym: "small intestine carcinoid tumour" EXACT OMO:0003005 [] +synonym: "small intestine carcinoid tumour (disease)" EXACT OMO:0003005 [] synonym: "small intestine NET G1" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] synonym: "small intestine neuroendocrine neoplasm G1" EXACT [] synonym: "small intestine neuroendocrine tumor, well differentiated, low grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] @@ -6260,6 +6319,7 @@ def: "An invasive malignant neoplasm that arises from the ovary and is character synonym: "clear-cell ovarian carcinoma" EXACT [DOID:0050934] synonym: "malignant ovarian clear cell neoplasm" EXACT [NCIT:C40077] synonym: "malignant ovarian clear cell tumor" EXACT [NCIT:C40077] +synonym: "malignant ovarian clear cell tumour" EXACT OMO:0003005 [] synonym: "ovarian clear cell carcinoma" RELATED [DOID:0050934] xref: DOID:0050934 {source="MONDO:equivalentTo", source="MONDO:generalized-by-cjm"} xref: NCIT:C40077 {source="MONDO:equivalentTo"} @@ -6535,6 +6595,7 @@ replaced_by: MONDO:0014280 id: MONDO:0000577 name: congenital anemia def: "Anemia, the cause of which is present at birth." [NCIT:C35228] +synonym: "congenital anaemia (disease)" EXACT OMO:0003005 [] synonym: "congenital anemia" EXACT [NCIT:C35228] synonym: "congenital anemia (disease)" EXACT [MONDO:patterns/congenital] xref: NCIT:C35228 {source="MONDO:equivalentTo"} @@ -7014,10 +7075,13 @@ name: breast benign neoplasm def: "A non-metastasizing neoplasm arising from the breast parenchyma." [NCIT:P378] synonym: "benign breast neoplasm" EXACT [NCIT:C4505] synonym: "benign breast tumor" EXACT [NCIT:C4505] +synonym: "benign breast tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of breast" EXACT [NCIT:C4505] synonym: "benign neoplasm of the breast" EXACT [NCIT:C4505] synonym: "benign tumor of breast" EXACT [NCIT:C4505] synonym: "benign tumor of the breast" EXACT [NCIT:C4505] +synonym: "benign tumour of breast" EXACT OMO:0003005 [] +synonym: "benign tumour of the breast" EXACT OMO:0003005 [] synonym: "breast benign neoplasm" EXACT [MONDO:patterns/location] xref: DOID:0060082 {source="MONDO:equivalentTo"} xref: ICD9:217 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -7061,8 +7125,10 @@ name: benign female reproductive system neoplasm def: "A non-metastasizing neoplasm that arises from the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, and benign ovarian germ cell tumor." [NCIT:C4934] synonym: "benign female reproductive system neoplasm" EXACT [NCIT:C4934] synonym: "benign female reproductive system tumor" EXACT [NCIT:C4934] +synonym: "benign female reproductive system tumour" EXACT OMO:0003005 [] synonym: "benign gynecologic neoplasm" EXACT [NCIT:C4934] synonym: "benign gynecologic tumor" EXACT [NCIT:C4934] +synonym: "benign gynecologic tumour" EXACT OMO:0003005 [] synonym: "female reproductive organ benign neoplasm" EXACT [MONDO:patterns/location] xref: DOID:0060086 {source="MONDO:equivalentTo"} xref: NCIT:C4934 {source="MONDO:equivalentTo"} @@ -7079,6 +7145,7 @@ name: benign male reproductive system neoplasm def: "A non-metastasizing neoplasm that arises from the male reproductive system. Representative examples include benign prostate phyllodes tumor, benign Sertoli cell tumor, seminal vesicle cystadenoma, and epididymal adenomatoid tumor." [NCIT:C4777] synonym: "benign Male reproductive system neoplasm" EXACT [NCIT:C4777] synonym: "benign Male reproductive system tumor" EXACT [NCIT:C4777] +synonym: "benign Male reproductive system tumour" EXACT OMO:0003005 [] synonym: "male reproductive organ benign neoplasm" EXACT [MONDO:patterns/location] xref: DOID:0060087 {source="MONDO:equivalentTo"} xref: NCIT:C4777 {source="MONDO:equivalentTo"} @@ -7102,12 +7169,16 @@ name: benign endocrine neoplasm def: "A non-metastasizing, functioning or non-functioning neoplasm that arises from an endocrine organ. Representative examples include thyroid gland follicular adenoma and parathyroid gland adenoma." [NCIT:C4621] synonym: "benign endocrine gland neoplasm" EXACT [NCIT:C4621] synonym: "benign endocrine gland tumor" EXACT [NCIT:C4621] +synonym: "benign endocrine gland tumour" EXACT OMO:0003005 [] synonym: "benign endocrine neoplasm" EXACT [NCIT:C4621] synonym: "benign endocrine tumor" EXACT [NCIT:C4621] +synonym: "benign endocrine tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of endocrine gland" EXACT [NCIT:C4621] synonym: "benign neoplasm of the endocrine gland" EXACT [NCIT:C4621] synonym: "benign tumor of endocrine gland" EXACT [NCIT:C4621] synonym: "benign tumor of the endocrine gland" EXACT [NCIT:C4621] +synonym: "benign tumour of endocrine gland" EXACT OMO:0003005 [] +synonym: "benign tumour of the endocrine gland" EXACT OMO:0003005 [] synonym: "endocrine gland benign neoplasm" EXACT [MONDO:patterns/location] synonym: "endocrine organ benign neoplasm" EXACT [DOID:0060089] xref: DOID:0060089 {source="MONDO:equivalentTo"} @@ -7157,12 +7228,16 @@ name: bone benign neoplasm def: "A neoplasm that arises from the bone or articular cartilage and does not invade adjacent tissues or metastasize to other anatomic sites." [NCIT:P378] synonym: "benign bone neoplasm" EXACT [NCIT:C4880] synonym: "benign bone tumor" EXACT [NCIT:C4880] +synonym: "benign bone tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of bone" EXACT [NCIT:C4880] synonym: "benign neoplasm of the bone" EXACT [NCIT:C4880] synonym: "benign osseous neoplasm" EXACT [NCIT:C4880] synonym: "benign osseous tumor" EXACT [NCIT:C4880] +synonym: "benign osseous tumour" EXACT OMO:0003005 [] synonym: "benign tumor of bone" EXACT [NCIT:C4880] synonym: "benign tumor of the bone" EXACT [NCIT:C4880] +synonym: "benign tumour of bone" EXACT OMO:0003005 [] +synonym: "benign tumour of the bone" EXACT OMO:0003005 [] synonym: "bone tissue benign neoplasm" EXACT [MONDO:patterns/location] xref: DOID:0060094 {source="MONDO:equivalentTo"} xref: ICD9:213.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -7182,15 +7257,21 @@ synonym: "benign neoplasm of the uterus" EXACT [NCIT:C3609] synonym: "benign neoplasm of uterus" EXACT [NCIT:C3609] synonym: "benign tumor of the uterus" EXACT [NCIT:C3609] synonym: "benign tumor of uterus" EXACT [NCIT:C3609] +synonym: "benign tumour of the uterus" EXACT OMO:0003005 [] +synonym: "benign tumour of uterus" EXACT OMO:0003005 [] synonym: "benign uterine neoplasm" EXACT [NCIT:C3609] synonym: "benign uterine neoplasm NOS" RELATED EXCLUDE [NCIT:C3609] synonym: "benign uterine neoplasms" EXACT [NCIT:C3609] synonym: "benign uterine tumor" EXACT [NCIT:C3609] synonym: "benign uterine tumors" EXACT [NCIT:C3609] +synonym: "benign uterine tumour" EXACT OMO:0003005 [] +synonym: "benign uterine tumours" EXACT OMO:0003005 [] synonym: "benign uterus neoplasm" EXACT [NCIT:C3609] synonym: "benign uterus neoplasms" EXACT [NCIT:C3609] synonym: "benign uterus tumor" EXACT [NCIT:C3609] synonym: "benign uterus tumors" EXACT [NCIT:C3609] +synonym: "benign uterus tumour" EXACT OMO:0003005 [] +synonym: "benign uterus tumours" EXACT OMO:0003005 [] synonym: "uterine neoplasms, benign" EXACT [NCIT:C3609] synonym: "uterine tumors, benign" EXACT [NCIT:C3609] synonym: "Uterous neoplasms, benign" EXACT [NCIT:C3609] @@ -7226,8 +7307,11 @@ synonym: "benign neoplasm of the thorax" EXACT [NCIT:C4565] synonym: "benign neoplasm of thorax" EXACT [NCIT:C4565] synonym: "benign thoracic neoplasm" EXACT [NCIT:C4565] synonym: "benign thoracic tumor" EXACT [NCIT:C4565] +synonym: "benign thoracic tumour" EXACT OMO:0003005 [] synonym: "benign tumor of the thorax" EXACT [NCIT:C4565] synonym: "benign tumor of thorax" EXACT [NCIT:C4565] +synonym: "benign tumour of the thorax" EXACT OMO:0003005 [] +synonym: "benign tumour of thorax" EXACT OMO:0003005 [] synonym: "thoracic segment of trunk benign neoplasm" EXACT [MONDO:patterns/location] xref: DOID:0060097 {source="MONDO:equivalentTo"} xref: ICD9:229.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -7303,18 +7387,24 @@ comment: NCIT calls this CNS embryonal tumor, NOS synonym: "central nervous system embryonal tumor, NOS" RELATED EXCLUDE [NCIT:C5398] synonym: "central nervous system embryonal tumor, not otherwise specified" RELATED EXCLUDE [NCIT:C5398] synonym: "central nervous system neuroectodermal tumor" EXACT [MONDO:patterns/location] +synonym: "central nervous system neuroectodermal tumour" EXACT OMO:0003005 [] synonym: "central nervous system PNET" EXACT [NCIT:C5398] synonym: "central nervous system primitive neuroectodermal neoplasm" EXACT [NCIT:C5398] synonym: "central nervous system primitive neuroectodermal tumor" EXACT [MONDO:patterns/location, NCIT:C5398] synonym: "central nervous system primitive neuroectodermal tumor (WHO grade IV)" EXACT [NCIT:C5398] +synonym: "central nervous system primitive neuroectodermal tumour" EXACT OMO:0003005 [] +synonym: "central nervous system primitive neuroectodermal tumour (WHO grade IV)" EXACT OMO:0003005 [] synonym: "central primitive neuroectodermal neoplasm" EXACT [NCIT:C5398] synonym: "central primitive neuroectodermal tumor" EXACT [NCIT:C5398] +synonym: "central primitive neuroectodermal tumour" EXACT OMO:0003005 [] synonym: "CNS embryonal tumor, NOS" RELATED EXCLUDE [NCIT:C5398] synonym: "CNS embryonal tumor, not otherwise specified" RELATED EXCLUDE [NCIT:C5398] synonym: "CNS PNET" EXACT [NCIT:C5398] synonym: "CNS primitive neuroectodermal neoplasm" EXACT [NCIT:C5398] synonym: "CNS primitive neuroectodermal tumor" EXACT [NCIT:C5398] +synonym: "CNS primitive neuroectodermal tumour" EXACT OMO:0003005 [] synonym: "primitive neuroectodermal tumor of central nervous system" EXACT [MONDO:design_pattern] +synonym: "primitive neuroectodermal tumour of central nervous system" EXACT OMO:0003005 [] xref: DOID:0060103 {source="MONDO:equivalentTo"} xref: NCIT:C5398 {source="MONDO:equivalentTo"} xref: UMLS:C3887678 {source="NCIT:C5398", source="MONDO:notFoundInDiseaseSubset"} @@ -7352,11 +7442,15 @@ synonym: "benign neoplasm of the vulva" EXACT [NCIT:C3611] synonym: "benign neoplasm of vulva" EXACT [NCIT:C3611] synonym: "benign tumor of the vulva" EXACT [NCIT:C3611] synonym: "benign tumor of vulva" EXACT [NCIT:C3611] +synonym: "benign tumour of the vulva" EXACT OMO:0003005 [] +synonym: "benign tumour of vulva" EXACT OMO:0003005 [] synonym: "benign vulva neoplasm" EXACT [NCIT:C3611] synonym: "benign vulva tumor" EXACT [NCIT:C3611] +synonym: "benign vulva tumour" EXACT OMO:0003005 [] synonym: "benign vulval neoplasm" EXACT [NCIT:C3611] synonym: "benign vulvar neoplasm" EXACT [NCIT:C3611] synonym: "benign vulvar tumor" EXACT [NCIT:C3611] +synonym: "benign vulvar tumour" EXACT OMO:0003005 [] synonym: "mammalian vulva benign neoplasm" EXACT [MONDO:patterns/location] synonym: "vulva benign neoplasm" EXACT [MONDO:patterns/location] xref: DOID:0060109 {source="MONDO:equivalentTo"} @@ -7376,6 +7470,7 @@ synonym: "benign cervical neoplasm" EXACT [NCIT:C3607] synonym: "benign cervix uteri neoplasm" EXACT [NCIT:C3607] synonym: "benign cervix uteri neoplasm NOS" RELATED EXCLUDE [NCIT:C3607] synonym: "benign cervix uteri tumor" EXACT [NCIT:C3607] +synonym: "benign cervix uteri tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of cervix uteri" EXACT [NCIT:C3607] synonym: "benign neoplasm of the cervix uteri" EXACT [NCIT:C3607] synonym: "benign neoplasm of the uterine cervix" EXACT [NCIT:C3607] @@ -7384,8 +7479,13 @@ synonym: "benign tumor of cervix uteri" EXACT [NCIT:C3607] synonym: "benign tumor of the cervix uteri" EXACT [NCIT:C3607] synonym: "benign tumor of the uterine cervix" EXACT [NCIT:C3607] synonym: "benign tumor of uterine cervix" EXACT [NCIT:C3607] +synonym: "benign tumour of cervix uteri" EXACT OMO:0003005 [] +synonym: "benign tumour of the cervix uteri" EXACT OMO:0003005 [] +synonym: "benign tumour of the uterine cervix" EXACT OMO:0003005 [] +synonym: "benign tumour of uterine cervix" EXACT OMO:0003005 [] synonym: "benign uterine cervix neoplasm" EXACT [NCIT:C3607] synonym: "benign uterine cervix tumor" EXACT [NCIT:C3607] +synonym: "benign uterine cervix tumour" EXACT OMO:0003005 [] synonym: "uterine cervix benign neoplasm" EXACT [MONDO:patterns/location] xref: DOID:0060110 {source="MONDO:equivalentTo"} xref: NCIT:C3607 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -7404,11 +7504,15 @@ def: "A non-metastasizing neoplasm that arises from the fallopian tube. Represen subset: ordo_disease {source="Orphanet:180237"} synonym: "benign fallopian tube neoplasm" EXACT [NCIT:C4517] synonym: "benign fallopian tube tumor" EXACT [NCIT:C4517] +synonym: "benign fallopian tube tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of fallopian tube" EXACT [NCIT:C4517] synonym: "benign neoplasm of the fallopian tube" EXACT [NCIT:C4517] synonym: "benign tumor of fallopian tube" EXACT [NCIT:C4517] synonym: "benign tumor of fallopian tubes" EXACT [MONDO:0015865] synonym: "benign tumor of the fallopian tube" EXACT [NCIT:C4517] +synonym: "benign tumour of fallopian tube" EXACT OMO:0003005 [] +synonym: "benign tumour of fallopian tubes" EXACT OMO:0003005 [] +synonym: "benign tumour of the fallopian tube" EXACT OMO:0003005 [] synonym: "fallopian tube benign neoplasm" EXACT [MONDO:patterns/location] synonym: "fallopian tube neoplasm, benign" EXACT [NCIT:C4517] synonym: "fallopian tube tumor, benign" EXACT [NCIT:C4517] @@ -7432,8 +7536,11 @@ synonym: "benign neoplasm of ovary" EXACT [NCIT:C2895] synonym: "benign neoplasm of the ovary" EXACT [NCIT:C2895] synonym: "benign ovarian neoplasm" EXACT [NCIT:C2895] synonym: "benign ovarian tumor" EXACT [NCIT:C2895] +synonym: "benign ovarian tumour" EXACT OMO:0003005 [] synonym: "benign tumor of ovary" EXACT [NCIT:C2895] synonym: "benign tumor of the ovary" EXACT [NCIT:C2895] +synonym: "benign tumour of ovary" EXACT OMO:0003005 [] +synonym: "benign tumour of the ovary" EXACT OMO:0003005 [] synonym: "ovary benign neoplasm" EXACT [MONDO:patterns/location] xref: DOID:0060112 {source="MONDO:equivalentTo"} xref: EFO:1000116 {source="MONDO:equivalentTo"} @@ -7453,9 +7560,12 @@ synonym: "benign neoplasm of the vagina" EXACT [NCIT:C3610] synonym: "benign neoplasm of vagina" EXACT [NCIT:C3610] synonym: "benign tumor of the vagina" EXACT [NCIT:C3610] synonym: "benign tumor of vagina" EXACT [NCIT:C3610] +synonym: "benign tumour of the vagina" EXACT OMO:0003005 [] +synonym: "benign tumour of vagina" EXACT OMO:0003005 [] synonym: "benign vaginal neoplasm" EXACT [NCIT:C3610] synonym: "benign vaginal neoplasms" EXACT [NCIT:C3610] synonym: "benign vaginal tumor" EXACT [NCIT:C3610] +synonym: "benign vaginal tumour" EXACT OMO:0003005 [] synonym: "vagina benign neoplasm" EXACT [MONDO:patterns/location] synonym: "vagina female reproductive organ benign neoplasm" EXACT [MONDO:patterns/location] synonym: "vaginal benign neoplasm" EXACT [DOID:0060114] @@ -7477,8 +7587,11 @@ synonym: "benign neoplasm of nervous system" EXACT [NCIT:C4789] synonym: "benign neoplasm of the nervous system" EXACT [NCIT:C4789] synonym: "benign nervous system neoplasm" EXACT [NCIT:C4789] synonym: "benign nervous system tumor" EXACT [NCIT:C4789] +synonym: "benign nervous system tumour" EXACT OMO:0003005 [] synonym: "benign tumor of nervous system" EXACT [NCIT:C4789] synonym: "benign tumor of the nervous system" EXACT [NCIT:C4789] +synonym: "benign tumour of nervous system" EXACT OMO:0003005 [] +synonym: "benign tumour of the nervous system" EXACT OMO:0003005 [] synonym: "nervous system benign neoplasm" EXACT [MONDO:patterns/location] synonym: "nervous system neoplasm, benign" EXACT [NCIT:C4789] xref: DOID:0060115 {source="MONDO:equivalentTo"} @@ -7575,15 +7688,18 @@ name: benign connective and soft tissue neoplasm def: "A non-metastasizing neoplasm that arises from the connective and soft tissue. Representative examples include lipoma, leiomyoma, fibroma, and osteoma." [NCIT:C53684] synonym: "benign connective and soft tissue neoplasm" EXACT [NCIT:C53684] synonym: "benign connective and soft tissue tumor" EXACT [NCIT:C53684] +synonym: "benign connective and soft tissue tumour" EXACT OMO:0003005 [] synonym: "benign mesenchymal cell neoplasm" EXACT [NCIT:C53684] synonym: "benign neoplasm of the soft tissue and bone" EXACT [NCIT:C53684] synonym: "benign tumor of the soft tissue and bone" EXACT [NCIT:C53684] +synonym: "benign tumour of the soft tissue and bone" EXACT OMO:0003005 [] synonym: "connective and soft tissue neoplasm, benign" EXACT [MONDO:patterns/benign, NCIT:C53684] synonym: "connective tissue benign neoplasm" EXACT [MONDO:patterns/location] synonym: "neoplasm of soft tissue" RELATED [DOID:0060123] synonym: "neoplasm of soft tissues" RELATED [DOID:0060123] synonym: "soft tissue benign neoplasm" RELATED [DOID:0060123] synonym: "tumor of the soft tissue" RELATED [DOID:0060123, NCIT:C3377] +synonym: "tumour of the soft tissue" RELATED OMO:0003005 [] xref: DOID:0060123 {source="MONDO:equivalentTo"} xref: MESH:D012983 {source="DOID:0060123"} xref: NCIT:C3377 {source="DOID:0060123", source="MONDO:directSiblingOf"} @@ -9624,23 +9740,37 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0000814 name: B-cell adult acute lymphocytic leukemia def: "An acute B-lymphoblastic leukemia occurring in adults." [NCIT:P378] +synonym: "adult B acute lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "adult B acute lymphoblastic leukemia" EXACT [DOID:0060592] +synonym: "adult B cell acute lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "adult B cell acute lymphoblastic leukemia" EXACT [NCIT:C9143] +synonym: "adult B cell acute lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "adult B cell acute lymphocytic leukemia" EXACT [NCIT:C9143] synonym: "adult B cell ALL" EXACT [NCIT:C9143] +synonym: "adult B-cell acute lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "adult B-cell acute lymphoblastic leukemia" EXACT [DOID:0060592] +synonym: "adult B-cell acute lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "adult B-cell acute lymphocytic leukemia" EXACT [NCIT:C9143] synonym: "adult B-cell ALL" EXACT [NCIT:C9143] +synonym: "adult B-cell childhood acute lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "adult B-cell childhood acute lymphoblastic leukemia" EXACT [MONDO:design_pattern] +synonym: "adult B-cell lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "adult B-cell lymphocytic leukemia" EXACT [DOID:0060592] +synonym: "adult B-lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "adult B-lymphoblastic leukemia" EXACT [DOID:0060592] +synonym: "adult precursor B-lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "adult precursor B-lymphoblastic leukemia" EXACT [NCIT:C9143] +synonym: "B acute lymphoblastic leukaemia" BROAD OMO:0003005 [] synonym: "B acute lymphoblastic leukemia" BROAD [NCIT:C9143] +synonym: "B cell adult acute lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "B cell adult acute lymphoblastic leukemia" EXACT [NCIT:C9143] +synonym: "B cell adult acute lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "B cell adult acute lymphocytic leukemia" EXACT [NCIT:C9143] synonym: "B cell adult ALL" EXACT [NCIT:C9143] +synonym: "B-cell adult acute lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "B-cell adult acute lymphoblastic leukemia" EXACT [NCIT:C9143] synonym: "B-cell adult ALL" EXACT [NCIT:C9143] +synonym: "B-cell childhood acute lymphoblastic leukaemia of adults" EXACT OMO:0003005 [] synonym: "B-cell childhood acute lymphoblastic leukemia of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] xref: DOID:0060592 {source="MONDO:equivalentTo"} xref: EFO:1001935 {source="MONDO:equivalentTo"} @@ -10131,12 +10261,17 @@ id: MONDO:0000863 name: myopathy, lactic acidosis, and sideroblastic anemia def: "Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterized by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anemia around adolescence, lactic acidaemia, and mitochondrial myopathy." [Orphanet:2598] subset: ordo_disease {source="Orphanet:2598"} +synonym: "mitochondrial myopathy and sideroblastic anaemia" EXACT OMO:0003005 [] synonym: "mitochondrial myopathy and sideroblastic anemia" EXACT [MONDO:0010892] synonym: "MLASA" EXACT ABBREVIATION [Orphanet:2598] synonym: "MSA" EXACT ABBREVIATION [Orphanet:2598] +synonym: "myopathy with lactic acidosis and sideroblastic anaemia" RELATED OMO:0003005 [] synonym: "myopathy with lactic acidosis and sideroblastic anemia" RELATED [GARD:0003885] +synonym: "myopathy, lactic acidosis and sideroblastic anaemia" EXACT OMO:0003005 [] synonym: "myopathy, lactic acidosis and sideroblastic anemia" EXACT [Orphanet:2598] +synonym: "myopathy, lactic acidosis, and siderblastic anaemia" EXACT OMO:0003005 [] synonym: "myopathy, lactic acidosis, and siderblastic anemia" EXACT [OMIMPS:600462] +synonym: "sideroblastic anaemia and mitochondrial myopathy" RELATED OMO:0003005 [] synonym: "sideroblastic anemia and mitochondrial myopathy" RELATED [GARD:0003885] xref: DOID:0080099 {source="MONDO:equivalentTo"} xref: ICD10CM:G71.3 {source="Orphanet:2598/attributed", source="Orphanet:2598/ntbt", source="Orphanet:2598"} @@ -10203,13 +10338,24 @@ id: MONDO:0000870 name: childhood acute lymphoblastic leukemia def: "An acute lymphoblastic leukemia occurring during childhood. The majority of cases are B-acute lymphoblastic leukemias. Approximately 15% of the cases are T-acute lymphoblastic leukemias." [NCIT:C3168] subset: gard_rare {source="GARD:0009240"} +synonym: "acute lymphoblastic leukaemia (ALL)" BROAD OMO:0003005 [] synonym: "acute lymphoblastic leukemia (ALL)" BROAD [NCIT:C3168] synonym: "childhood acute lymphoblastic leukemia" EXACT [NCIT:C3168] +synonym: "childhood acute lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "childhood acute lymphocytic leukemia" EXACT [DOID:0080144, NCIT:C3168] +synonym: "childhood acute lymphogenous leukaemia" EXACT OMO:0003005 [] synonym: "childhood acute lymphogenous leukemia" EXACT [NCIT:C3168] +synonym: "childhood acute lymphoid leukaemia" EXACT OMO:0003005 [] synonym: "childhood acute lymphoid leukemia" EXACT [NCIT:C3168] synonym: "childhood ALL" EXACT [NCIT:C3168] +synonym: "childhood precursor lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "childhood precursor lymphoblastic leukemia" EXACT [NCIT:C3168] +synonym: "paediatric acute lymphoblastic leukaemia" EXACT OMO:0003005 [] +synonym: "paediatric acute lymphocytic leukaemia" EXACT OMO:0003005 [] +synonym: "paediatric acute lymphocytic leukaemia (ALL)" EXACT OMO:0003005 [] +synonym: "paediatric acute lymphogenous leukaemia" EXACT OMO:0003005 [] +synonym: "paediatric acute lymphoid leukaemia" EXACT OMO:0003005 [] +synonym: "paediatric ALL" EXACT OMO:0003005 [] synonym: "pediatric acute lymphoblastic leukemia" EXACT [NCIT:C3168] synonym: "pediatric acute lymphocytic leukemia" EXACT [NCIT:C3168] synonym: "pediatric acute lymphocytic leukemia (ALL)" EXACT [NCIT:C3168] @@ -10231,14 +10377,22 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9240/childho id: MONDO:0000871 name: T-cell childhood acute lymphocytic leukemia def: "An acute lymphoblastic leukemia of T-cell origin occurring in children." [NCIT:C7953] +synonym: "childhood precursor T-lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "childhood precursor T-lymphoblastic leukemia" EXACT [NCIT:C7953] +synonym: "childhood T acute lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "childhood T acute lymphoblastic leukemia" EXACT [NCIT:C7953] synonym: "childhood T-ALL" EXACT [NCIT:C7953] +synonym: "childhood T-cell acute lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "childhood T-cell acute lymphoblastic leukemia" EXACT [NCIT:C7953] +synonym: "T acute lymphoblastic leukaemia" BROAD OMO:0003005 [] synonym: "T acute lymphoblastic leukemia" BROAD [NCIT:C7953] +synonym: "T-cell childhood acute lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "T-cell childhood acute lymphoblastic leukemia" EXACT [NCIT:C7953] synonym: "T-cell childhood acute lymphocytic leukemia" EXACT [NCIT:C7953] synonym: "T-cell childhood ALL" EXACT [NCIT:C7953] +synonym: "T-cell paediatric acute lymphoblastic leukaemia" EXACT OMO:0003005 [] +synonym: "T-cell paediatric acute lymphocytic leukaemia" EXACT OMO:0003005 [] +synonym: "T-cell paediatric ALL" EXACT OMO:0003005 [] synonym: "T-cell pediatric acute lymphoblastic leukemia" EXACT [NCIT:C7953] synonym: "T-cell pediatric acute lymphocytic leukemia" EXACT [NCIT:C7953] synonym: "T-cell pediatric ALL" EXACT [NCIT:C7953] @@ -10255,24 +10409,40 @@ relationship: has_characteristic PATO:0000389 ! acute id: MONDO:0000872 name: B-cell childhood acute lymphoblastic leukemia def: "An acute B-lymphoblastic leukemia occurring in children." [NCIT:P378] +synonym: "B acute lymphoblastic leukaemia" BROAD OMO:0003005 [] synonym: "B acute lymphoblastic leukemia" BROAD [NCIT:C9140] +synonym: "B cell childhood acute lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "B cell childhood acute lymphoblastic leukemia" EXACT [NCIT:C9140] +synonym: "B cell childhood acute lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "B cell childhood acute lymphocytic leukemia" EXACT [NCIT:C9140] synonym: "B cell childhood ALL" EXACT [NCIT:C9140] +synonym: "B cell paediatric acute lymphoblastic leukaemia" EXACT OMO:0003005 [] +synonym: "B cell paediatric acute lymphocytic leukaemia" EXACT OMO:0003005 [] +synonym: "B cell paediatric ALL" EXACT OMO:0003005 [] synonym: "B cell pediatric acute lymphoblastic leukemia" EXACT [NCIT:C9140] synonym: "B cell pediatric acute lymphocytic leukemia" EXACT [NCIT:C9140] synonym: "B cell pediatric ALL" EXACT [NCIT:C9140] +synonym: "B-cell childhood acute lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "B-cell childhood acute lymphocytic leukemia" EXACT [NCIT:C9140] +synonym: "B-cell childhood acute lymphogenous leukaemia" EXACT OMO:0003005 [] synonym: "B-cell childhood acute lymphogenous leukemia" EXACT [NCIT:C9140] +synonym: "B-cell childhood acute lymphoid leukaemia" EXACT OMO:0003005 [] synonym: "B-cell childhood acute lymphoid leukemia" EXACT [NCIT:C9140] synonym: "B-cell childhood ALL" EXACT [NCIT:C9140] +synonym: "B-cell paediatric acute lymphoblastic leukaemia" EXACT OMO:0003005 [] +synonym: "B-cell paediatric acute lymphocytic leukaemia" EXACT OMO:0003005 [] +synonym: "B-cell paediatric acute lymphogenous leukaemia" EXACT OMO:0003005 [] +synonym: "B-cell paediatric acute lymphoid leukaemia" EXACT OMO:0003005 [] +synonym: "B-cell paediatric ALL" EXACT OMO:0003005 [] synonym: "B-cell pediatric acute lymphoblastic leukemia" EXACT [NCIT:C9140] synonym: "B-cell pediatric acute lymphocytic leukemia" EXACT [NCIT:C9140] synonym: "B-cell pediatric acute lymphogenous leukemia" EXACT [NCIT:C9140] synonym: "B-cell pediatric acute lymphoid leukemia" EXACT [NCIT:C9140] synonym: "B-cell pediatric ALL" EXACT [NCIT:C9140] +synonym: "childhood B acute lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "childhood B acute lymphoblastic leukemia" EXACT [NCIT:C9140] synonym: "childhood B-ALL" EXACT [NCIT:C9140] +synonym: "childhood precursor B-lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "childhood precursor B-lymphoblastic leukemia" EXACT [NCIT:C9140] xref: DOID:0080146 {source="MONDO:equivalentTo"} xref: EFO:1001946 {source="MONDO:equivalentTo"} @@ -10321,11 +10491,16 @@ is_a: MONDO:0004403 {source="NCIT:C7210"} ! childhood precursor T-lymphoblastic id: MONDO:0000875 name: adult acute monocytic leukemia def: "A acute monocytic leukemia that occurs in an adult." [MONDO:design_pattern] +synonym: "acute monocytic leukaemia" BROAD OMO:0003005 [] +synonym: "acute monocytic leukaemia of adults" EXACT OMO:0003005 [] synonym: "acute monocytic leukemia" BROAD [NCIT:C8263] synonym: "acute monocytic leukemia of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] +synonym: "adult acute differentiated monocytic leukaemia (M5b)" EXACT OMO:0003005 [] synonym: "adult acute differentiated monocytic leukemia (M5b)" EXACT [NCIT:C8263] synonym: "adult acute monocytic leukemia" EXACT [NCIT:C8263] +synonym: "M5b adult acute differentiated monocytic leukaemia" EXACT OMO:0003005 [] synonym: "M5b adult acute differentiated monocytic leukemia" EXACT [NCIT:C8263] +synonym: "M5b adult acute leukaemia" EXACT OMO:0003005 [] synonym: "M5b adult acute leukemia" EXACT [NCIT:C8263] xref: DOID:0080149 {source="MONDO:equivalentTo"} xref: NCIT:C8263 {source="MONDO:equivalentTo", source="DOID:0080149"} @@ -10912,6 +11087,7 @@ synonym: "cancer of hepatopancreatic ampulla" EXACT [MONDO:patterns/cancer] synonym: "hepatopancreatic ampulla cancer" EXACT [MONDO:patterns/location] synonym: "malignant ampulla of Vater neoplasm" EXACT [NCIT:C3536] synonym: "malignant ampulla of Vater tumor" EXACT [NCIT:C3536] +synonym: "malignant ampulla of Vater tumour" EXACT OMO:0003005 [] synonym: "malignant hepatopancreatic ampulla neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of ampulla of Vater" EXACT [NCIT:C3536] synonym: "malignant neoplasm of hepatopancreatic ampulla" EXACT [MONDO:patterns/cancer] @@ -10919,6 +11095,9 @@ synonym: "malignant neoplasm of the ampulla of Vater" EXACT [NCIT:C3536] synonym: "malignant tumor of ampulla of Vater" EXACT [NCIT:C3536] synonym: "malignant tumor of ampulla of vater" EXACT [DOID:10020] synonym: "malignant tumor of the ampulla of Vater" EXACT [NCIT:C3536] +synonym: "malignant tumour of ampulla of Vater" EXACT OMO:0003005 [] +synonym: "malignant tumour of ampulla of vater" EXACT OMO:0003005 [] +synonym: "malignant tumour of the ampulla of Vater" EXACT OMO:0003005 [] xref: DOID:10020 {source="MONDO:equivalentTo"} xref: ICD10CM:C24.1 {source="DOID:10020"} xref: ICD9:156.2 {source="DOID:10020"} @@ -10943,11 +11122,14 @@ synonym: "duodenal neoplasm" BROAD EXCLUDE [DOID:10021] synonym: "duodenum cancer" EXACT [MONDO:patterns/location] synonym: "malignant duodenal neoplasm" EXACT [NCIT:C9328] synonym: "malignant duodenal tumor" EXACT [NCIT:C9328] +synonym: "malignant duodenal tumour" EXACT OMO:0003005 [] synonym: "malignant duodenum neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of duodenum" EXACT [MONDO:patterns/cancer, NCIT:C9328] synonym: "malignant neoplasm of the duodenum" EXACT [NCIT:C9328] synonym: "malignant tumor of duodenum" EXACT [NCIT:C9328] synonym: "malignant tumor of the duodenum" EXACT [NCIT:C9328] +synonym: "malignant tumour of duodenum" EXACT OMO:0003005 [] +synonym: "malignant tumour of the duodenum" EXACT OMO:0003005 [] xref: DOID:10021 {source="MONDO:equivalentTo"} xref: ICD10CM:C17.0 {source="DOID:10021"} xref: ICD9:152.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10021"} @@ -10971,16 +11153,21 @@ id: MONDO:0000921 name: ampulla of vater neoplasm def: "A benign or malignant neoplasm involving the ampulla of Vater." [NCIT:C4443] synonym: "ampulla of Vater tumor" EXACT [NCIT:C4443] +synonym: "ampulla of Vater tumour" EXACT OMO:0003005 [] synonym: "AMPULLAOFVATER" RELATED ABBREVIATION [ONCOTREE:AMPULLAOFVATER] synonym: "hepatopancreatic ampulla neoplasm" EXACT [] synonym: "hepatopancreatic ampulla neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "hepatopancreatic ampulla tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "hepatopancreatic ampulla tumour" EXACT OMO:0003005 [] synonym: "neoplasm of ampulla of Vater" EXACT [NCIT:C4443] synonym: "neoplasm of hepatopancreatic ampulla" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the ampulla of Vater" EXACT [NCIT:C4443] synonym: "tumor of ampulla of Vater" EXACT [NCIT:C4443] synonym: "tumor of hepatopancreatic ampulla" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of the ampulla of Vater" EXACT [DOID:10022, NCIT:C4443] +synonym: "tumour of ampulla of Vater" EXACT OMO:0003005 [] +synonym: "tumour of hepatopancreatic ampulla" EXACT OMO:0003005 [] +synonym: "tumour of the ampulla of Vater" EXACT OMO:0003005 [] xref: DOID:10022 {source="MONDO:equivalentTo"} xref: NCIT:C13011 {source="ONCOTREE:AMPULLAOFVATER"} xref: NCIT:C4443 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:10022"} @@ -11188,11 +11375,15 @@ synonym: "neoplasm of subglottis" EXACT [MONDO:patterns/neoplasm, NCIT:C4426] synonym: "neoplasm of the subglottis" EXACT [NCIT:C4426] synonym: "subglottic neoplasm" EXACT [NCIT:C4426] synonym: "subglottic tumor" EXACT [DOID:10069, NCIT:C4426] +synonym: "subglottic tumour" EXACT OMO:0003005 [] synonym: "subglottis neoplasm" EXACT [NCIT:C4426] synonym: "subglottis neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "subglottis tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4426] +synonym: "subglottis tumour" EXACT OMO:0003005 [] synonym: "tumor of subglottis" EXACT [MONDO:patterns/neoplasm, NCIT:C4426] synonym: "tumor of the subglottis" EXACT [NCIT:C4426] +synonym: "tumour of subglottis" EXACT OMO:0003005 [] +synonym: "tumour of the subglottis" EXACT OMO:0003005 [] xref: DOID:10069 {source="MONDO:equivalentTo"} xref: NCIT:C4426 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:10069"} xref: SCTID:126696001 {source="MONDO:equivalentTo", source="DOID:10069"} @@ -11620,14 +11811,21 @@ synonym: "malignant neoplasm of the small intestine" EXACT [NCIT:C7523] synonym: "malignant neoplasms of the small intestine" RELATED [GARD:0009385] synonym: "malignant small bowel neoplasm" EXACT [NCIT:C7523] synonym: "malignant small bowel tumor" EXACT [NCIT:C7523] +synonym: "malignant small bowel tumour" EXACT OMO:0003005 [] synonym: "malignant small intestinal neoplasm" EXACT [NCIT:C7523] synonym: "malignant small intestine neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7523] synonym: "malignant small intestine tumor" EXACT [NCIT:C7523] +synonym: "malignant small intestine tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of small bowel" EXACT [NCIT:C7523] synonym: "malignant tumor of small intestine" EXACT [NCIT:C7523] synonym: "malignant tumor of the small bowel" EXACT [NCIT:C7523] synonym: "malignant tumor of the small intestine" EXACT [NCIT:C7523] +synonym: "malignant tumour of small bowel" EXACT OMO:0003005 [] +synonym: "malignant tumour of small intestine" EXACT OMO:0003005 [] +synonym: "malignant tumour of the small bowel" EXACT OMO:0003005 [] +synonym: "malignant tumour of the small intestine" EXACT OMO:0003005 [] synonym: "small bowel tumors" RELATED [GARD:0009385] +synonym: "small bowel tumours" RELATED OMO:0003005 [] synonym: "small intestine cancer" EXACT [MONDO:patterns/location] xref: DOID:10154 {source="MONDO:equivalentTo"} xref: ICD10CM:C17 {source="DOID:10154"} @@ -11754,7 +11952,10 @@ def: "A benign adipose tissue neoplasm of the esophagus. Clinical presentation i synonym: "esophageal lipoma" EXACT [NCIT:C5701] synonym: "esophagus lipoma" EXACT [MONDO:patterns/location] synonym: "lipoma of esophagus" EXACT [DOID:10187, NCIT:C5701] +synonym: "lipoma of oesophagus" EXACT OMO:0003005 [] synonym: "lipoma of the esophagus" EXACT [NCIT:C5701] +synonym: "lipoma of the oesophagus" EXACT OMO:0003005 [] +synonym: "oesophagus lipoma" EXACT OMO:0003005 [] xref: DOID:10187 {source="MONDO:equivalentTo"} xref: NCIT:C5701 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:10187"} xref: UMLS:C1333455 {source="MONDO:equivalentTo", source="NCIT:C5701", source="DOID:10187"} @@ -11771,6 +11972,7 @@ name: skin lipoma def: "A benign or malignant adipose tissue neoplasm of the skin." [NCIT:P378] synonym: "cutaneous lipoma" EXACT [DOID:10188, NCIT:C4616] synonym: "cutaneous lipomatous tumor" EXACT [DOID:10188] +synonym: "cutaneous lipomatous tumour" EXACT OMO:0003005 [] synonym: "lipoma of face" NARROW [DOID:10188] synonym: "lipoma of skin" EXACT [DOID:10188, NCIT:C4616] synonym: "lipoma of the skin" EXACT [NCIT:C4616] @@ -12361,9 +12563,12 @@ synonym: "malignant phyllodes neoplasm of prostate" EXACT [NCIT:C5531] synonym: "malignant phyllodes neoplasm of the prostate" EXACT [DOID:10289, NCIT:C5531] synonym: "malignant phyllodes tumor of prostate" EXACT [NCIT:C5531] synonym: "malignant phyllodes tumor of the prostate" EXACT [NCIT:C5531] +synonym: "malignant phyllodes tumour of prostate" EXACT OMO:0003005 [] +synonym: "malignant phyllodes tumour of the prostate" EXACT OMO:0003005 [] synonym: "malignant prostate phyllodes neoplasm" EXACT [NCIT:C5531] synonym: "malignant prostate phyllodes tumor" EXACT [NCIT:C5531] synonym: "prostate malignant phyllodes tumor" RELATED [DOID:10289] +synonym: "prostate malignant phyllodes tumour" RELATED OMO:0003005 [] xref: DOID:10289 {source="MONDO:equivalentTo"} xref: MESH:C549759 {source="DOID:10289"} xref: NCIT:C5531 {source="MONDO:equivalentTo", source="DOID:10289"} @@ -12379,10 +12584,12 @@ def: "A group of genetic neurological disorders caused by mutations in genes inv subset: disease_grouping subset: gard_rare {source="GARD:0006422"} subset: ordo_group_of_disorders +synonym: "familial periodic paralyses" RELATED OMO:0003005 [] synonym: "familial periodic paralysis" EXACT [MESH:D010245, NCIT:C84709] synonym: "familial periodic paralyzes" RELATED [MESH:D010245] synonym: "genetic periodic paralysis" RELATED [GARD:0006422, Orphanet:371433] synonym: "hereditary periodic paralysis (disease)" EXACT [MONDO:patterns/hereditary] +synonym: "normokalemic periodic paralyses" RELATED OMO:0003005 [] synonym: "normokalemic periodic paralysis" RELATED [MESH:D010245] synonym: "normokalemic periodic paralyzes" RELATED [MESH:D010245] synonym: "paralysis, familial periodic" RELATED [MESH:D010245] @@ -12543,6 +12750,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8355/kaolin- [Term] id: MONDO:0001006 name: glaucomatous atrophy of optic disk +synonym: "glaucomatous atrophy [cupping] of optic disc" EXACT OMO:0003005 [] synonym: "glaucomatous atrophy [cupping] of optic disk" EXACT [DOID:10337, ICD9CM:377.14] xref: DOID:10337 {source="MONDO:equivalentTo"} xref: ICD10CM:H47.23 {source="DOID:10337"} @@ -12648,11 +12856,14 @@ replaced_by: MONDO:0006118 id: MONDO:0001014 name: chronic leukemia def: "A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia." [NCIT:C3483] +synonym: "adult chronic leukaemia" RELATED OMO:0003005 [] synonym: "adult chronic leukemia" RELATED [DOID:1036] +synonym: "chronic leukaemia (disease)" EXACT OMO:0003005 [] synonym: "chronic leukemia" EXACT [NCIT:C3483] synonym: "chronic leukemia (disease)" EXACT [] synonym: "CLL" RELATED ABBREVIATION [DOID:1036] synonym: "CML" RELATED ABBREVIATION [DOID:1036] +synonym: "leukaemia (disease), chronic" EXACT OMO:0003005 [] synonym: "leukemia (disease), chronic" EXACT [MONDO:patterns/chronic] xref: DOID:1036 {source="MONDO:equivalentTo"} xref: ICD9:208.10 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -12683,11 +12894,14 @@ synonym: "cancer of epididymis" EXACT [MONDO:patterns/cancer] synonym: "epididymis cancer" EXACT [MONDO:patterns/location] synonym: "malignant epididymal neoplasm" EXACT [NCIT:C3558] synonym: "malignant epididymal tumor" EXACT [DOID:10366, NCIT:C3558] +synonym: "malignant epididymal tumour" EXACT OMO:0003005 [] synonym: "malignant epididymis neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of epididymis" EXACT [DOID:10366, ICD9CM:187.5, MONDO:patterns/cancer, NCIT:C3558] synonym: "malignant neoplasm of the epididymis" EXACT [NCIT:C3558] synonym: "malignant tumor of epididymis" EXACT [NCIT:C3558] synonym: "malignant tumor of the epididymis" EXACT [NCIT:C3558] +synonym: "malignant tumour of epididymis" EXACT OMO:0003005 [] +synonym: "malignant tumour of the epididymis" EXACT OMO:0003005 [] xref: DOID:10366 {source="MONDO:equivalentTo"} xref: ICD10CM:C63.0 {source="DOID:10366"} xref: ICD9:187.5 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10366"} @@ -12786,6 +13000,8 @@ id: MONDO:0001023 name: prolymphocytic leukemia def: "A mature B- or T- cell leukemia with progressive clinical course. It is characterized by the presence of medium-sized lymphocytes with visible nucleoli (prolymphocytes) in the peripheral blood, bone marrow, and spleen." [NCIT:C3181] synonym: "PLL" EXACT ABBREVIATION [NCIT:C3181] +synonym: "prolymphocytic leukaemia (B or T)" EXACT OMO:0003005 [] +synonym: "prolymphocytic leukaemia (B or T-cell)" EXACT OMO:0003005 [] synonym: "prolymphocytic leukemia" EXACT [NCIT:C3181] synonym: "prolymphocytic leukemia (B or T)" EXACT [NCIT:C3181] synonym: "prolymphocytic leukemia (B or T-cell)" EXACT [NCIT:C3181] @@ -12854,7 +13070,9 @@ name: gonococcal seminal vesiculitis def: "A gonorrhea that involves the seminal vesicle." [MONDO:patterns/location] synonym: "gonococcal seminal vesiculitis (acute)" EXACT [DOID:10400, ICD9CM:098.14] synonym: "gonorrhea of seminal vesicle" EXACT [DOID:10400] +synonym: "gonorrhoea of seminal vesicle" EXACT OMO:0003005 [] synonym: "seminal vesicle gonorrhea" EXACT [MONDO:patterns/location] +synonym: "seminal vesicle gonorrhoea" EXACT OMO:0003005 [] xref: DOID:10400 {source="MONDO:equivalentTo"} xref: SCTID:301990003 {source="DOID:10400", source="MONDO:equivalentTo"} xref: UMLS:C0578661 {source="DOID:10400", source="MONDO:equivalentTo"} @@ -13123,11 +13341,14 @@ id: MONDO:0001044 name: esophageal atresia def: "A congenital abnormality of the esophagus in which the upper esophagus ends as a blind pouch and does not connect with the lower esophagus; it is often accompanied by a tracheoesophageal fistula. Signs and symptoms in a newborn with this abnormality include excessive salivation, choking, coughing, and the development of cyanosis and respiratory distress when fed." [NCIT:P378] synonym: "congenital atresia of esophagus" EXACT [DOID:10485] +synonym: "congenital atresia of oesophagus" EXACT OMO:0003005 [] synonym: "congenital esophageal atresia" EXACT [NCIT:C87072] synonym: "congenital imperforate esophagus" EXACT [DOID:10485] +synonym: "congenital imperforate oesophagus" EXACT OMO:0003005 [] synonym: "esophageal atresia" EXACT [MONDO:ambiguous] synonym: "esophageal atresia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "imperforate esophagus" EXACT [DOID:10485] +synonym: "imperforate oesophagus" EXACT OMO:0003005 [] synonym: "oesophageal atresia" EXACT [DOID:10485] xref: DOID:10485 {source="MONDO:equivalentTo"} xref: HP:0002032 {source="MONDO:otherHierarchy"} @@ -13319,6 +13540,7 @@ synonym: "gastric cancer, somatic" EXACT [OMIM:613659, OMIM:genemap2] synonym: "gastric neoplasm" BROAD [DOID:10534, NCIT:C3387] synonym: "malignant gastric neoplasm" EXACT [NCIT:C9331] synonym: "malignant gastric tumor" EXACT [NCIT:C9331] +synonym: "malignant gastric tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of body of stomach" NARROW [DOID:10534] synonym: "malignant neoplasm of lesser curve of stomach" EXACT [DOID:10534] synonym: "malignant neoplasm of stomach" EXACT [MONDO:patterns/cancer, NCIT:C9331] @@ -13329,6 +13551,11 @@ synonym: "malignant tumor of greater curve of stomach" EXACT [DOID:10534] synonym: "malignant tumor of lesser curve of stomach" EXACT [DOID:10534] synonym: "malignant tumor of stomach" EXACT [NCIT:C9331] synonym: "malignant tumor of the stomach" EXACT [NCIT:C9331] +synonym: "malignant tumour of body of stomach" EXACT OMO:0003005 [] +synonym: "malignant tumour of greater curve of stomach" EXACT OMO:0003005 [] +synonym: "malignant tumour of lesser curve of stomach" EXACT OMO:0003005 [] +synonym: "malignant tumour of stomach" EXACT OMO:0003005 [] +synonym: "malignant tumour of the stomach" EXACT OMO:0003005 [] synonym: "stomach cancer" EXACT [MONDO:patterns/location] xref: DOID:10534 {source="MONDO:equivalentTo"} xref: ICD10CM:C16 {source="DOID:10534", source="MONDO:equivalentTo"} @@ -13391,8 +13618,11 @@ synonym: "malignant granular cell neoplasm of stomach" EXACT [NCIT:C5484] synonym: "malignant granular cell neoplasm of the stomach" EXACT [NCIT:C5484] synonym: "malignant granular cell stomach neoplasm" EXACT [NCIT:C5484] synonym: "malignant granular cell stomach tumor" EXACT [NCIT:C5484] +synonym: "malignant granular cell stomach tumour" EXACT OMO:0003005 [] synonym: "malignant granular cell tumor of stomach" EXACT [DOID:10536, NCIT:C5484] synonym: "malignant granular cell tumor of the stomach" EXACT [NCIT:C5484] +synonym: "malignant granular cell tumour of stomach" EXACT OMO:0003005 [] +synonym: "malignant granular cell tumour of the stomach" EXACT OMO:0003005 [] xref: DOID:10536 {source="MONDO:equivalentTo"} xref: NCIT:C5484 {source="DOID:10536", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C1334585 {source="NCIT:C5484", source="DOID:10536", source="MONDO:equivalentTo"} @@ -13451,6 +13681,7 @@ synonym: "malignant neoplasm of pylorus" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of pylorus of stomach" EXACT [DOID:10544] synonym: "malignant pylorus neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of pylorus" EXACT [DOID:10544] +synonym: "malignant tumour of pylorus" EXACT OMO:0003005 [] synonym: "pylorus cancer" EXACT [MONDO:patterns/location] xref: DOID:10544 {source="MONDO:equivalentTo"} xref: ICD10CM:C16.4 {source="DOID:10544"} @@ -13474,6 +13705,7 @@ synonym: "malignant neoplasm of antrum of stomach NOS" RELATED EXCLUDE [DOID:105 synonym: "malignant neoplasm of pyloric antrum" EXACT [MONDO:patterns/cancer] synonym: "malignant pyloric antrum neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of pyloric antrum" EXACT [DOID:10547] +synonym: "malignant tumour of pyloric antrum" EXACT OMO:0003005 [] synonym: "pyloric antrum cancer" EXACT [MONDO:patterns/location] xref: DOID:10547 {source="MONDO:equivalentTo"} xref: ICD10CM:C16.3 {source="DOID:10547"} @@ -13797,6 +14029,7 @@ id: MONDO:0001080 name: acute gonococcal cervicitis def: "Acute form of gonococcal cervicitis." [MONDO:patterns/acute] synonym: "acute gonorrhea of cervix" EXACT [DOID:10615] +synonym: "acute gonorrhoea of cervix" EXACT OMO:0003005 [] synonym: "gonococcal cervicitis" RELATED EXCLUDE [DOID:10615] synonym: "gonococcal cervicitis (acute)" EXACT [DOID:10615, ICD9CM:098.15] synonym: "gonococcal cervicitis, acute" EXACT [MONDO:design_pattern, MONDO:patterns/acute] @@ -14610,6 +14843,11 @@ relationship: has_characteristic PATO:0000389 ! acute id: MONDO:0001126 name: gastric ulcer def: "An ulcerated lesion in the mucosal surface of the stomach. It may progress to involve the deeper layers of the gastric wall." [NCIT:P378] +synonym: "acute gastric ulcer with haemorrhage and obstruction" NARROW OMO:0003005 [] +synonym: "acute gastric ulcer with haemorrhage and perforation" NARROW OMO:0003005 [] +synonym: "acute gastric ulcer with haemorrhage and perforation, with obstruction" NARROW OMO:0003005 [] +synonym: "acute gastric ulcer with haemorrhage and perforation, without mention of obstruction" NARROW OMO:0003005 [] +synonym: "acute gastric ulcer with haemorrhage and with perforation but without obstruction" NARROW OMO:0003005 [] synonym: "acute gastric ulcer with hemorrhage and obstruction" NARROW [DOID:10808] synonym: "acute gastric ulcer with hemorrhage and perforation" NARROW [DOID:10808] synonym: "acute gastric ulcer with hemorrhage and perforation, with obstruction" NARROW [DOID:10808] @@ -14620,12 +14858,17 @@ synonym: "acute gastric ulcer with hemorrhage, with perforation and with obstruc synonym: "acute gastric ulcer with perforation" NARROW [DOID:10808] synonym: "acute gastric ulcer with perforation and obstruction" NARROW [DOID:10808] synonym: "acute gastric ulcer with perforation, with obstruction" NARROW [DOID:10808] +synonym: "acute gastric ulcer without haemorrhage and without perforation" NARROW OMO:0003005 [] synonym: "acute gastric ulcer without hemorrhage and without perforation" NARROW [DOID:10808] synonym: "acute gastric ulcer without hemorrhage, without perforation and without obstruction" NARROW [DOID:10808] +synonym: "acute gastric ulcer without mention of haemorrhage or perforation, without mention of obstruction" NARROW OMO:0003005 [] synonym: "acute gastric ulcer without mention of hemorrhage or perforation, without mention of obstruction" NARROW [DOID:10808] synonym: "bleeding acute gastric ulcer" NARROW [DOID:10808] +synonym: "chronic gastric ulcer without haemorrhage and without perforation" NARROW OMO:0003005 [] +synonym: "chronic gastric ulcer without haemorrhage and without perforation but with obstruction" NARROW OMO:0003005 [] synonym: "chronic gastric ulcer without hemorrhage and without perforation" NARROW [DOID:10808] synonym: "chronic gastric ulcer without hemorrhage and without perforation but with obstruction" NARROW [DOID:10808] +synonym: "chronic gastric ulcer without mention of haemorrhage or perforation, with obstruction" NARROW OMO:0003005 [] synonym: "chronic gastric ulcer without mention of hemorrhage or perforation, with obstruction" NARROW [DOID:10808] synonym: "gastric ulcer" EXACT [MONDO:ambiguous] synonym: "gastric ulcer (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] @@ -14674,11 +14917,14 @@ def: "A malignant neoplasm involving the nasal cavity" [https://orcid.org/0000-0 synonym: "cancer of nasal cavity" EXACT [MONDO:patterns/cancer] synonym: "malignant nasal cavity neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4918] synonym: "malignant nasal cavity tumor" EXACT [NCIT:C4918] +synonym: "malignant nasal cavity tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of nasal cavities" EXACT [DOID:10811, ICD9CM:160.0] synonym: "malignant neoplasm of nasal cavity" EXACT [MONDO:patterns/cancer, NCIT:C4918] synonym: "malignant neoplasm of the nasal cavity" EXACT [NCIT:C4918] synonym: "malignant tumor of nasal cavity" EXACT [NCIT:C4918] synonym: "malignant tumor of the nasal cavity" EXACT [DOID:10811, NCIT:C4918] +synonym: "malignant tumour of nasal cavity" EXACT OMO:0003005 [] +synonym: "malignant tumour of the nasal cavity" EXACT OMO:0003005 [] synonym: "nasal cavity cancer" EXACT [MONDO:patterns/location] xref: DOID:10811 {source="MONDO:equivalentTo"} xref: ICD10CM:C30.0 {source="DOID:10811"} @@ -15142,6 +15388,10 @@ relationship: transmitted_by NCBITaxon:523089 ! Haemaphysalis concinna [Term] id: MONDO:0001155 name: gastrojejunal ulcer +synonym: "acute gastrojejunal ulcer with haemorrhage" EXACT OMO:0003005 [] +synonym: "acute gastrojejunal ulcer with haemorrhage and obstruction" EXACT OMO:0003005 [] +synonym: "acute gastrojejunal ulcer with haemorrhage and perforation" EXACT OMO:0003005 [] +synonym: "acute gastrojejunal ulcer with haemorrhage and perforation, with obstruction" EXACT OMO:0003005 [] synonym: "acute gastrojejunal ulcer with hemorrhage" EXACT [DOID:10927] synonym: "acute gastrojejunal ulcer with hemorrhage and obstruction" EXACT [DOID:10927] synonym: "acute gastrojejunal ulcer with hemorrhage and perforation" EXACT [DOID:10927] @@ -15150,12 +15400,16 @@ synonym: "acute gastrojejunal ulcer with hemorrhage, with perforation and with o synonym: "acute gastrojejunal ulcer with perforation" EXACT [DOID:10927] synonym: "acute gastrojejunal ulcer with perforation and obstruction" EXACT [DOID:10927] synonym: "acute gastrojejunal ulcer with perforation, with obstruction" EXACT [DOID:10927, ICD9CM:534.11] +synonym: "acute gastrojejunal ulcer without haemorrhage and without perforation" EXACT OMO:0003005 [] synonym: "acute gastrojejunal ulcer without hemorrhage and without perforation" EXACT [DOID:10927] synonym: "acute gastrojejunal ulcer without hemorrhage, without perforation and without obstruction" EXACT [DOID:10927] +synonym: "acute gastrojejunal ulcer without mention of haemorrhage or perforation, without mention of obstruction" EXACT OMO:0003005 [] synonym: "acute gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction" EXACT [DOID:10927, ICD9CM:534.30] synonym: "acute gastrojejunal ulcer, with hemorrhage, with obstruction" EXACT [DOID:10927, ICD9CM:534.01] +synonym: "chronic gastrojejunal ulcer without haemorrhage and without perforation" EXACT OMO:0003005 [] synonym: "chronic gastrojejunal ulcer without hemorrhage and without perforation" EXACT [DOID:10927] synonym: "chronic gastrojejunal ulcer without hemorrhage, without perforation and without obstruction" EXACT [DOID:10927] +synonym: "chronic gastrojejunal ulcer without mention of haemorrhage or perforation, without mention of obstruction" EXACT OMO:0003005 [] synonym: "chronic gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction" EXACT [DOID:10927, ICD9CM:534.70] xref: DOID:10927 {source="MONDO:equivalentTo"} xref: ICD10CM:K28.0 {source="MONDO:equivalentTo", source="DOID:10927"} @@ -15756,6 +16010,7 @@ synonym: "bladder cancer, somatic" EXACT [OMIM:109800, OMIM:genemap2] synonym: "cancer of urinary bladder" EXACT [MONDO:patterns/cancer] synonym: "malignant bladder neoplasm" EXACT [NCIT:C9334] synonym: "malignant bladder tumor" EXACT [NCIT:C9334] +synonym: "malignant bladder tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of bladder" EXACT [NCIT:C9334] synonym: "malignant neoplasm of the bladder" EXACT [NCIT:C9334] synonym: "malignant neoplasm of the urinary bladder" EXACT [NCIT:C9334] @@ -15767,12 +16022,19 @@ synonym: "malignant tumor of the bladder" EXACT [NCIT:C9334] synonym: "malignant tumor of the urinary bladder" EXACT [NCIT:C9334] synonym: "malignant tumor of urinary bladder" EXACT [NCIT:C9334] synonym: "malignant tumor, urinary bladder" EXACT [NCIT:C9334] +synonym: "malignant tumour of bladder" EXACT OMO:0003005 [] +synonym: "malignant tumour of the bladder" EXACT OMO:0003005 [] +synonym: "malignant tumour of the urinary bladder" EXACT OMO:0003005 [] +synonym: "malignant tumour of urinary bladder" EXACT OMO:0003005 [] synonym: "malignant urinary bladder neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C9334] synonym: "malignant urinary bladder tumor" EXACT [NCIT:C9334] +synonym: "malignant urinary bladder tumour" EXACT OMO:0003005 [] synonym: "tumor of the bladder" BROAD [DOID:11054, NCIT:C2901] +synonym: "tumour of the bladder" BROAD OMO:0003005 [] synonym: "urinary bladder cancer" EXACT [MONDO:patterns/location] synonym: "urinary bladder malignant neoplasm" EXACT [NCIT:C9334] synonym: "urinary bladder malignant tumor" EXACT [NCIT:C9334] +synonym: "urinary bladder malignant tumour" EXACT OMO:0003005 [] xref: DOID:11054 {source="MONDO:equivalentTo"} xref: ICD10CM:C67 {source="DOID:11054"} xref: ICD10CM:C67.9 {source="DOID:11054"} @@ -15806,7 +16068,9 @@ def: "An extranodal lymphoma that arises from the esophagus with the bulk of the synonym: "esophageal lymphoma" EXACT [NCIT:C5687] synonym: "esophagus lymphoma" EXACT [MONDO:patterns/location, NCIT:C5687] synonym: "lymphoma of esophagus" EXACT [DOID:1106, NCIT:C5687] +synonym: "lymphoma of oesophagus" EXACT OMO:0003005 [] synonym: "lymphoma of the esophagus" EXACT [NCIT:C5687] +synonym: "lymphoma of the oesophagus" EXACT OMO:0003005 [] synonym: "primary esophageal lymphoma" EXACT [NCIT:C5687] xref: DOID:1106 {source="MONDO:equivalentTo"} xref: NCIT:C5687 {source="MONDO:equivalentTo", source="DOID:1106"} @@ -15862,9 +16126,15 @@ synonym: "esophageal melanoma" EXACT [NCIT:C5707] synonym: "esophagus melanoma" EXACT [DOID:1108] synonym: "esophagus melanoma (disease)" EXACT [MONDO:patterns/location] synonym: "melanoma (disease) of esophagus" EXACT [] +synonym: "melanoma (disease) of oesophagus" EXACT OMO:0003005 [] synonym: "melanoma of esophagus" EXACT [DOID:1108, NCIT:C5707] +synonym: "melanoma of oesophagus" EXACT OMO:0003005 [] synonym: "melanoma of the esophagus" EXACT [NCIT:C5707] +synonym: "melanoma of the oesophagus" EXACT OMO:0003005 [] synonym: "mucosal melanoma of the esophagus" RELATED [ONCOTREE:ESMM] +synonym: "mucosal melanoma of the oesophagus" RELATED OMO:0003005 [] +synonym: "oesophagus melanoma" EXACT OMO:0003005 [] +synonym: "oesophagus melanoma (disease)" EXACT OMO:0003005 [] xref: DOID:1108 {source="MONDO:equivalentTo"} xref: NCIT:C5707 {source="MONDO:equivalentTo", source="DOID:1108"} xref: ONCOTREE:ESMM {source="MONDO:equivalentTo"} @@ -16059,8 +16329,11 @@ def: "A malignant soft tissue neoplasm that arises from the esophagus. Represent synonym: "esophageal sarcoma" EXACT [DOID:1114, NCIT:C5341] synonym: "esophagus sarcoma" EXACT [MONDO:patterns/location, NCIT:C5341] synonym: "sarcoma of esophagus" EXACT [MONDO:patterns/sarcoma, NCIT:C5341] +synonym: "sarcoma of oesophagus" EXACT OMO:0003005 [] synonym: "sarcoma of the esophagus" EXACT [NCIT:C5341] +synonym: "sarcoma of the oesophagus" EXACT OMO:0003005 [] synonym: "sarcoma, esophagus" EXACT [NCIT:C5341] +synonym: "sarcoma, oesophagus" EXACT OMO:0003005 [] xref: DOID:1114 {source="MONDO:equivalentTo"} xref: NCIT:C5341 {source="MONDO:equivalentTo", source="DOID:1114"} xref: UMLS:C1333466 {source="NCIT:C5341", source="MONDO:equivalentTo", source="DOID:1114"} @@ -16352,7 +16625,9 @@ synonym: "esophageal varices without bleeding" RELATED EXCLUDE [DOID:112] synonym: "esophageal varices without mention of bleeding" EXACT [DOID:112] synonym: "esophageal varix" EXACT [NCIT:C53506] synonym: "esophagus varicose disease" EXACT [MONDO:patterns/location] +synonym: "oesophagus varicose disease" EXACT OMO:0003005 [] synonym: "varicose disease of esophagus" EXACT [MONDO:design_pattern] +synonym: "varicose disease of oesophagus" EXACT OMO:0003005 [] xref: DOID:112 {source="MONDO:equivalentTo"} xref: ICD10CM:I85 {source="MONDO:equivalentTo"} xref: ICD10CM:I85.01 {source="DOID:112"} @@ -16502,6 +16777,7 @@ id: MONDO:0001229 name: small intestine diverticulitis def: "A diverticulitis that involves the small intestine." [MONDO:patterns/location] synonym: "diverticulitis of small intestine" EXACT [MONDO:design_pattern] +synonym: "diverticulosis of small intestine with haemorrhage" EXACT OMO:0003005 [] synonym: "diverticulosis of small intestine with hemorrhage" EXACT [DOID:11223] synonym: "small intestine diverticulitis" EXACT [MONDO:patterns/location] xref: DOID:11223 {source="MONDO:equivalentTo"} @@ -16588,12 +16864,15 @@ synonym: "cancer of the appendix" EXACT [DOID:11239, NCIT:C9330] synonym: "cancer of vermiform appendix" EXACT [MONDO:patterns/cancer] synonym: "malignant appendix neoplasm" EXACT [NCIT:C9333] synonym: "malignant appendix tumor" EXACT [NCIT:C9333] +synonym: "malignant appendix tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of appendix" EXACT [NCIT:C9333] synonym: "malignant neoplasm of appendix vermiformis" EXACT [DOID:11239, ICD9CM:153.5, NCIT:C9333] synonym: "malignant neoplasm of the appendix" EXACT [NCIT:C9333] synonym: "malignant neoplasm of vermiform appendix" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of appendix" EXACT [NCIT:C9333] synonym: "malignant tumor of the appendix" EXACT [DOID:11239, NCIT:C9333] +synonym: "malignant tumour of appendix" EXACT OMO:0003005 [] +synonym: "malignant tumour of the appendix" EXACT OMO:0003005 [] synonym: "malignant vermiform appendix neoplasm" EXACT [MONDO:patterns/cancer] synonym: "vermiform appendix cancer" EXACT [MONDO:patterns/location] xref: DOID:11239 {source="MONDO:equivalentTo"} @@ -16615,15 +16894,20 @@ name: appendiceal neoplasm def: "A benign or malignant neoplasm involving the appendix." [NCIT:P378] synonym: "appendix neoplasm" EXACT [DOID:11240, NCIT:C4434] synonym: "appendix tumor" EXACT [NCIT:C4434] +synonym: "appendix tumour" EXACT OMO:0003005 [] synonym: "neoplasm of appendix" EXACT [NCIT:C4434] synonym: "neoplasm of the appendix" EXACT [NCIT:C4434] synonym: "neoplasm of vermiform appendix" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of appendix" EXACT [NCIT:C4434] synonym: "tumor of the appendix" EXACT [NCIT:C4434] synonym: "tumor of vermiform appendix" EXACT [MONDO:patterns/neoplasm] +synonym: "tumour of appendix" EXACT OMO:0003005 [] +synonym: "tumour of the appendix" EXACT OMO:0003005 [] +synonym: "tumour of vermiform appendix" EXACT OMO:0003005 [] synonym: "vermiform appendix neoplasm" EXACT [] synonym: "vermiform appendix neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "vermiform appendix tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "vermiform appendix tumour" EXACT OMO:0003005 [] xref: DOID:11240 {source="MONDO:equivalentTo"} xref: EFO:0003880 {source="MONDO:equivalentTo"} xref: MESH:D001063 {source="MONDO:equivalentTo", source="DOID:11240"} @@ -16690,6 +16974,7 @@ is_a: MONDO:0002280 {source="DOID:11243/inferred", source="MONDO:Redundant", sou id: MONDO:0001240 name: neonatal anemia def: "The mildest form of erythroblastosis fetalis in which anemia is the chief manifestation." [MESH:D000751] +synonym: "anaemia neonatal" EXACT OMO:0003005 [] synonym: "anemia neonatal" EXACT [DOID:11244, MTH:NOCODE] xref: DOID:11244 {source="MONDO:equivalentTo"} xref: MESH:D000751 {source="MONDO:equivalentTo", source="DOID:11244"} @@ -16808,6 +17093,7 @@ synonym: "famine fever" RELATED [DOID:11256] synonym: "flea typhus" NARROW [DOID:11256] synonym: "flea-borne rickettsiosis" RELATED [DOID:11256] synonym: "flea-borne typhus" RELATED [DOID:11256] +synonym: "gaol fever" RELATED OMO:0003005 [] synonym: "hospital fever" RELATED [DOID:11256] synonym: "jail fever" RELATED [DOID:11256] synonym: "louse-borne [epidemic] typhus" NARROW [DOID:11256, ICD9CM:080] @@ -16959,7 +17245,9 @@ def: "Nodular enlargement of the thyroid gland associated with hyperthyroidism." synonym: "Plummer disease" EXACT [DOID:11277] synonym: "Plummer's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] synonym: "Toxic goiter" EXACT [NCIT:C35171] +synonym: "Toxic goitre" EXACT OMO:0003005 [] synonym: "toxic nodular goiter" EXACT [DOID:11277, NCIT:C35171] +synonym: "toxic nodular goitre" EXACT OMO:0003005 [] xref: DOID:11277 {source="MONDO:equivalentTo"} xref: EFO:0009191 {source="MONDO:equivalentTo"} xref: ICD10CM:E05.2 {source="DOID:11277"} @@ -17225,8 +17513,10 @@ id: MONDO:0001268 name: gingival recession def: "A loss of gum tissue resulting in an exposure of the roots of the teeth." [NCIT:P378] synonym: "gingival recession" EXACT [DOID:1134, ICD9CM:523.2] +synonym: "gingival recession, localised" EXACT OMO:0003005 [] synonym: "gingival recession, localized" EXACT [DOID:1134, ICD9CM:523.24] synonym: "gingival recession, unspecified" EXACT [DOID:1134, ICD9CM:523.20] +synonym: "localised gingival recession" EXACT OMO:0003005 [] synonym: "localized gingival recession" EXACT [DOID:1134] synonym: "minimal gingival recession" EXACT [DOID:1134] synonym: "moderate gingival recession" EXACT [DOID:1134] @@ -17669,10 +17959,14 @@ synonym: "malignant neoplasm of subglottis" EXACT [MONDO:patterns/cancer, NCIT:C synonym: "malignant neoplasm of the subglottis" EXACT [NCIT:C3546] synonym: "malignant subglottic neoplasm" EXACT [NCIT:C3546] synonym: "malignant subglottic tumor" EXACT [DOID:11472, NCIT:C3546] +synonym: "malignant subglottic tumour" EXACT OMO:0003005 [] synonym: "malignant subglottis neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3546] synonym: "malignant subglottis tumor" EXACT [NCIT:C3546] +synonym: "malignant subglottis tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of subglottis" EXACT [NCIT:C3546] synonym: "malignant tumor of the subglottis" EXACT [NCIT:C3546] +synonym: "malignant tumour of subglottis" EXACT OMO:0003005 [] +synonym: "malignant tumour of the subglottis" EXACT OMO:0003005 [] synonym: "subglottis cancer" EXACT [MONDO:patterns/location] xref: DOID:11472 {source="MONDO:equivalentTo"} xref: ICD10CM:C32.2 {source="MONDO:equivalentTo", source="DOID:11472"} @@ -18186,10 +18480,14 @@ synonym: "malignant neoplasm of pericardium" EXACT [DOID:116, MONDO:patterns/can synonym: "malignant neoplasm of the pericardium" EXACT [NCIT:C4567] synonym: "malignant pericardial neoplasm" EXACT [NCIT:C4567] synonym: "malignant pericardial tumor" EXACT [NCIT:C4567] +synonym: "malignant pericardial tumour" EXACT OMO:0003005 [] synonym: "malignant pericardium neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of pericardium" EXACT [DOID:116, NCIT:C4567] synonym: "malignant tumor of the pericardium" EXACT [NCIT:C4567] +synonym: "malignant tumour of pericardium" EXACT OMO:0003005 [] +synonym: "malignant tumour of the pericardium" EXACT OMO:0003005 [] synonym: "pericardial tumor" BROAD [DOID:116, NCIT:C4651] +synonym: "pericardial tumour" BROAD OMO:0003005 [] synonym: "pericardium cancer" EXACT [MONDO:patterns/location] xref: DOID:116 {source="MONDO:equivalentTo"} xref: ICD10CM:C38.0 {source="DOID:116"} @@ -18253,9 +18551,12 @@ synonym: "malignant neoplasm of penis" EXACT [MONDO:patterns/cancer, NCIT:C7547] synonym: "malignant neoplasm of the penis" EXACT [NCIT:C7547] synonym: "malignant penile neoplasm" EXACT [NCIT:C7547] synonym: "malignant penile tumor" EXACT [DOID:11615, NCIT:C7547, Orphanet:398043] +synonym: "malignant penile tumour" EXACT OMO:0003005 [] synonym: "malignant penis neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of penis" EXACT [MONDO:0018350, NCIT:C7547] synonym: "malignant tumor of the penis" EXACT [NCIT:C7547] +synonym: "malignant tumour of penis" EXACT OMO:0003005 [] +synonym: "malignant tumour of the penis" EXACT OMO:0003005 [] synonym: "penile Ca" EXACT [DOID:11615] synonym: "penile cancer" EXACT [Orphanet:398043] synonym: "penile neoplasm" BROAD [DOID:11615] @@ -18321,6 +18622,7 @@ is_a: MONDO:0001592 {source="DOID:11629", source="ICD10CM:N81.84", source="ICD10 id: MONDO:0001328 name: thyroid hormone resistance syndrome def: "An inherited autosomal recessive trait, characterized by peripheral resistance to thyroid hormones and the resulting elevation in serum levels of thyroxine and triiodothyronine." [MESH:D018382-modified] +synonym: "generalised thyroid hormone resistance" EXACT OMO:0003005 [] synonym: "generalized thyroid hormone resistance" EXACT [DOID:11633] synonym: "Refetoff syndrome" RELATED EXCLUDE [DOID:11633] synonym: "resistance to thyroid stimulating hormone" RELATED [] @@ -18530,16 +18832,22 @@ def: "A malignant neoplasm involving the heart" [https://orcid.org/0000-0002-660 synonym: "cancer of heart" EXACT [MONDO:patterns/cancer] synonym: "Cardiac neoplasm, malignant" EXACT [NCIT:C3548] synonym: "Cardiac tumor" BROAD [DOID:117, NCIT:C3081] +synonym: "Cardiac tumour" BROAD OMO:0003005 [] synonym: "heart cancer" EXACT [MONDO:patterns/location, NCIT:C3548] synonym: "malignant Cardiac neoplasm" EXACT [NCIT:C3548] synonym: "malignant Cardiac tumor" EXACT [DOID:117, NCIT:C3548] +synonym: "malignant Cardiac tumour" EXACT OMO:0003005 [] synonym: "malignant heart neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3548] synonym: "malignant heart tumor" EXACT [NCIT:C3548] +synonym: "malignant heart tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of heart" EXACT [DOID:117, MONDO:patterns/cancer, NCIT:C3548] synonym: "malignant neoplasm of the heart" EXACT [NCIT:C3548] synonym: "malignant tumor of heart" EXACT [NCIT:C3548] synonym: "malignant tumor of the heart" EXACT [NCIT:C3548] +synonym: "malignant tumour of heart" EXACT OMO:0003005 [] +synonym: "malignant tumour of the heart" EXACT OMO:0003005 [] synonym: "tumor of heart" BROAD [DOID:117] +synonym: "tumour of heart" BROAD OMO:0003005 [] xref: DOID:117 {source="MONDO:equivalentTo"} xref: ICD10CM:C38.0 {source="DOID:117"} xref: ICD9:164.1 {source="DOID:117"} @@ -18795,6 +19103,7 @@ intersection_of: disease_has_location UBERON:0000019 ! camera-type eye id: MONDO:0001356 name: iron deficiency anemia def: "Anemia caused by low iron intake, inefficient iron absorption in the gastrointestinal tract, or chronic blood loss." [NCIT:C84484] +synonym: "iron-deficiency anaemia" EXACT OMO:0003005 [] synonym: "iron-deficiency anemia" EXACT [NCIT:C84484] xref: DOID:11758 {source="MONDO:equivalentTo"} xref: ICD9:280.8 {source="MONDO:relatedTo", source="DOID:11758", source="MONDO:i2s"} @@ -18817,7 +19126,9 @@ intersection_of: disease_disrupts GO:0006879 ! cellular iron ion homeostasis id: MONDO:0001357 name: hypochromic anemia def: "Anemia caused by the reduction of hemoglobin in relation to the red cell volume. As a result, the red cells have an area of central pallor which is increased in size. The leading cause is iron deficiency." [NCIT:C34380] +synonym: "anaemia hypochromic" EXACT OMO:0003005 [] synonym: "anemia hypochromic" EXACT [DOID:11759, MTH:NOCODE] +synonym: "hypochromic anaemia (disease)" EXACT OMO:0003005 [] synonym: "hypochromic anemia" EXACT [MONDO:ambiguous, NCIT:C34380] synonym: "hypochromic anemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:11759 {source="MONDO:equivalentTo"} @@ -19031,6 +19342,7 @@ synonym: "malignant neck of urinary bladder neoplasm" EXACT [MONDO:patterns/canc synonym: "malignant neoplasm of neck of urinary bladder" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of urinary bladder neck" EXACT [DOID:11809] synonym: "malignant tumor of bladder neck" EXACT [DOID:11809] +synonym: "malignant tumour of bladder neck" EXACT OMO:0003005 [] synonym: "neck of urinary bladder cancer" EXACT [MONDO:patterns/location] xref: DOID:11809 {source="MONDO:equivalentTo"} xref: ICD10CM:C67.5 {source="DOID:11809"} @@ -19125,6 +19437,7 @@ def: "A malignant neoplasm involving the urachus." [https://orcid.org/0000-0002- synonym: "cancer of urachus" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of urachus" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of urachus" EXACT [DOID:11817] +synonym: "malignant tumour of urachus" EXACT OMO:0003005 [] synonym: "malignant urachus neoplasm" EXACT [MONDO:patterns/cancer] synonym: "urachus cancer" EXACT [MONDO:patterns/location] xref: DOID:11817 {source="MONDO:equivalentTo"} @@ -19145,6 +19458,7 @@ synonym: "cancer of ureteral orifice" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of ureteral orifice" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of ureteric orifice of urinary bladder" EXACT [DOID:11818] synonym: "malignant tumor of ureteric orifice" EXACT [DOID:11818] +synonym: "malignant tumour of ureteric orifice" EXACT OMO:0003005 [] synonym: "malignant ureteral orifice neoplasm" EXACT [MONDO:patterns/cancer] synonym: "orifice of the ureter" EXACT [DOID:11818, NCIT:C12337] synonym: "ureteral orifice cancer" EXACT [MONDO:patterns/location] @@ -19170,6 +19484,7 @@ synonym: "malignant neoplasm of apex of urinary bladder" EXACT [DOID:11820] synonym: "malignant neoplasm of dome of urinary bladder" EXACT [DOID:11820, ICD9CM:188.1] synonym: "malignant neoplasm of fundus of urinary bladder" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of vault of bladder" EXACT [DOID:11820] +synonym: "malignant tumour of vault of bladder" EXACT OMO:0003005 [] synonym: "superior surface of bladder" EXACT [DOID:11820, NCIT:C12332] xref: DOID:11820 {source="MONDO:equivalentTo"} xref: ICD10CM:C67.1 {source="DOID:11820"} @@ -19320,6 +19635,7 @@ synonym: "glans penis cancer" EXACT [MONDO:patterns/location] synonym: "malignant glans penis neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of glans penis" EXACT [DOID:11839, ICD9CM:187.2, MONDO:patterns/cancer] synonym: "malignant tumor of glans penis" EXACT [DOID:11839] +synonym: "malignant tumour of glans penis" EXACT OMO:0003005 [] xref: DOID:11839 {source="MONDO:equivalentTo"} xref: ICD10CM:C60.1 {source="DOID:11839"} xref: ICD9:187.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11839"} @@ -19449,16 +19765,21 @@ synonym: "benign neoplasm of the ureter" EXACT [NCIT:C3617] synonym: "benign neoplasm of ureter" EXACT [NCIT:C3617] synonym: "benign tumor of the ureter" EXACT [NCIT:C3617] synonym: "benign tumor of ureter" EXACT [NCIT:C3617] +synonym: "benign tumour of the ureter" EXACT OMO:0003005 [] +synonym: "benign tumour of ureter" EXACT OMO:0003005 [] synonym: "benign ureter neoplasm" EXACT [NCIT:C3617] synonym: "benign ureter tumor" EXACT [NCIT:C3617] +synonym: "benign ureter tumour" EXACT OMO:0003005 [] synonym: "benign ureteral neoplasm" EXACT [NCIT:C3617] synonym: "benign ureteral tumor" EXACT [NCIT:C3617] +synonym: "benign ureteral tumour" EXACT OMO:0003005 [] synonym: "benign ureteric neoplasm" EXACT [NCIT:C3617] synonym: "benign ureteric neoplasm NOS" RELATED EXCLUDE [NCIT:C3617] synonym: "neoplasm of ureter" RELATED EXCLUDE [DOID:11885] synonym: "ureter benign neoplasm" EXACT [MONDO:patterns/location] synonym: "ureteral benign neoplasm" RELATED [DOID:11885] synonym: "ureteral tumor" BROAD [DOID:11885, NCIT:C3427] +synonym: "ureteral tumour" BROAD OMO:0003005 [] xref: DOID:11885 {source="MONDO:equivalentTo"} xref: ICD9:223.2 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D014516 {source="DOID:11885", source="MONDO:directSiblingOf"} @@ -19529,14 +19850,19 @@ synonym: "malignant neoplasm of the vagina" EXACT [NCIT:C7410] synonym: "malignant neoplasm of vagina" EXACT [DOID:119, ICD9CM:184.0, MONDO:patterns/cancer, NCIT:C7410] synonym: "malignant tumor of the vagina" EXACT [NCIT:C7410] synonym: "malignant tumor of vagina" EXACT [NCIT:C7410] +synonym: "malignant tumour of the vagina" EXACT OMO:0003005 [] +synonym: "malignant tumour of vagina" EXACT OMO:0003005 [] synonym: "malignant vagina neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7410] synonym: "malignant vagina tumor" EXACT [NCIT:C7410] +synonym: "malignant vagina tumour" EXACT OMO:0003005 [] synonym: "malignant vaginal neoplasm" EXACT [NCIT:C7410] synonym: "malignant vaginal tumor" EXACT [DOID:119, NCIT:C7410] +synonym: "malignant vaginal tumour" EXACT OMO:0003005 [] synonym: "neoplasm of vagina" RELATED EXCLUDE [DOID:119] synonym: "vagina cancer" EXACT [MONDO:patterns/location] synonym: "vagina neoplasm" BROAD [DOID:119] synonym: "vaginal tumor" BROAD [DOID:119, NCIT:C3437] +synonym: "vaginal tumour" BROAD OMO:0003005 [] xref: DOID:119 {source="MONDO:equivalentTo"} xref: ICD10CM:C52 {source="DOID:119"} xref: ICD9:184.0 {source="DOID:119", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -19563,12 +19889,15 @@ synonym: "cancer of labium majora" EXACT [MONDO:patterns/cancer] synonym: "labium majora cancer" EXACT [MONDO:patterns/location] synonym: "malignant labia majora neoplasm" EXACT [NCIT:C7638] synonym: "malignant labia majora tumor" EXACT [NCIT:C7638] +synonym: "malignant labia majora tumour" EXACT OMO:0003005 [] synonym: "malignant labium majora neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of labia majora" EXACT [DOID:11905, ICD9CM:184.1, NCIT:C7638] synonym: "malignant neoplasm of labium majora" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of the labia majora" EXACT [NCIT:C7638] synonym: "malignant tumor of labia majora" EXACT [DOID:11905, NCIT:C7638] synonym: "malignant tumor of the labia majora" EXACT [NCIT:C7638] +synonym: "malignant tumour of labia majora" EXACT OMO:0003005 [] +synonym: "malignant tumour of the labia majora" EXACT OMO:0003005 [] xref: DOID:11905 {source="MONDO:equivalentTo"} xref: ICD10CM:C51.0 {source="DOID:11905"} xref: ICD9:184.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11905"} @@ -19629,20 +19958,30 @@ synonym: "neoplasms, peripheral nervous system" EXACT [NCIT:C3321] synonym: "neoplasms, PNS" EXACT [NCIT:C3321] synonym: "nerve sheath neoplasm" NARROW [DOID:1192] synonym: "nerve sheath tumors" NARROW [DOID:1192] +synonym: "nerve sheath tumours" NARROW OMO:0003005 [] synonym: "peripheral nerve neoplasm" EXACT [NCIT:C3321] synonym: "peripheral nerve tumor" EXACT [NCIT:C3321] +synonym: "peripheral nerve tumour" EXACT OMO:0003005 [] synonym: "peripheral nervous system neoplasm" EXACT [NCIT:C3321] synonym: "peripheral nervous system neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "peripheral nervous system tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3321] +synonym: "peripheral nervous system tumour" EXACT OMO:0003005 [] synonym: "PNS neoplasm" EXACT [NCIT:C3321] synonym: "PNS neoplasms" EXACT [NCIT:C3321] synonym: "PNS tumor" EXACT [NCIT:C3321] +synonym: "PNS tumour" EXACT OMO:0003005 [] synonym: "tumor of peripheral nerve" EXACT [NCIT:C3321] synonym: "tumor of peripheral nervous system" EXACT [MONDO:patterns/neoplasm, NCIT:C3321] synonym: "tumor of PNS" EXACT [DOID:1192, NCIT:C3321] synonym: "tumor of the peripheral nerve" EXACT [NCIT:C3321] synonym: "tumor of the peripheral nervous system" EXACT [NCIT:C3321] synonym: "tumor of the PNS" EXACT [NCIT:C3321] +synonym: "tumour of peripheral nerve" EXACT OMO:0003005 [] +synonym: "tumour of peripheral nervous system" EXACT OMO:0003005 [] +synonym: "tumour of PNS" EXACT OMO:0003005 [] +synonym: "tumour of the peripheral nerve" EXACT OMO:0003005 [] +synonym: "tumour of the peripheral nervous system" EXACT OMO:0003005 [] +synonym: "tumour of the PNS" EXACT OMO:0003005 [] xref: DOID:1192 {source="MONDO:equivalentTo"} xref: ICD9:239.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D010524 {source="MONDO:equivalentTo", source="DOID:1192"} @@ -19675,10 +20014,14 @@ synonym: "malignant neoplasm of the trachea" EXACT [NCIT:C9346] synonym: "malignant neoplasm of trachea" EXACT [DOID:11920, MONDO:patterns/cancer, MTH:NOCODE, NCIT:C9346] synonym: "malignant trachea neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C9346] synonym: "malignant trachea tumor" EXACT [NCIT:C9346] +synonym: "malignant trachea tumour" EXACT OMO:0003005 [] synonym: "malignant tracheal neoplasm" EXACT [NCIT:C9346] synonym: "malignant tracheal tumor" EXACT [DOID:11920, NCIT:C9346] +synonym: "malignant tracheal tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of the trachea" EXACT [NCIT:C9346] synonym: "malignant tumor of trachea" EXACT [NCIT:C9346] +synonym: "malignant tumour of the trachea" EXACT OMO:0003005 [] +synonym: "malignant tumour of trachea" EXACT OMO:0003005 [] synonym: "trachea cancer" EXACT [MONDO:patterns/location] synonym: "tracheal neoplasm" BROAD [DOID:11920] xref: DOID:11920 {source="MONDO:equivalentTo"} @@ -19699,6 +20042,7 @@ intersection_of: disease_has_location UBERON:0003126 ! trachea id: MONDO:0001408 name: ischemic neuropathy def: "Neuropathy that is caused by inadequate blood supply." [NCIT:P378] +synonym: "ischaemic peripheral neuropathy" EXACT OMO:0003005 [] synonym: "ischemic peripheral neuropathy" EXACT [DOID:1195] xref: DOID:1195 {source="MONDO:equivalentTo"} xref: ICD9:356.9 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -19717,6 +20061,8 @@ synonym: "esophagitis" EXACT [MONDO:ambiguous] synonym: "esophagitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "esophagus inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "inflammation of esophagus" EXACT [] +synonym: "inflammation of oesophagus" EXACT OMO:0003005 [] +synonym: "oesophagus inflammation" EXACT OMO:0003005 [] xref: DOID:11963 {source="MONDO:equivalentTo"} xref: HP:0100633 {source="MONDO:otherHierarchy"} xref: ICD10CM:K20 {source="DOID:11963"} @@ -19835,14 +20181,18 @@ synonym: "gynecologic cancer" EXACT [NCIT:C4913] synonym: "malignant female reproductive organ neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant female reproductive system neoplasm" EXACT [NCIT:C4913] synonym: "malignant female reproductive system tumor" EXACT [NCIT:C4913] +synonym: "malignant female reproductive system tumour" EXACT OMO:0003005 [] synonym: "malignant gynecologic neoplasm" EXACT [NCIT:C4913] synonym: "malignant gynecologic tumor" EXACT [DOID:120, NCIT:C4913] +synonym: "malignant gynecologic tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of female genital organ" EXACT [DOID:120] synonym: "malignant neoplasm of female reproductive organ" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of female reproductive system" EXACT [NCIT:C4913] synonym: "malignant neoplasm of the female reproductive system" EXACT [NCIT:C4913] synonym: "malignant tumor of female reproductive system" EXACT [NCIT:C4913] synonym: "malignant tumor of the female reproductive system" EXACT [NCIT:C4913] +synonym: "malignant tumour of female reproductive system" EXACT OMO:0003005 [] +synonym: "malignant tumour of the female reproductive system" EXACT OMO:0003005 [] xref: DOID:120 {source="MONDO:equivalentTo"} xref: ICD10CM:C51-C58 {source="MONDO:equivalentTo"} xref: ICD10CM:C57 {source="DOID:120"} @@ -19922,8 +20272,10 @@ name: trigeminal nerve neoplasm def: "Benign and malignant neoplasms which arise from or metastasize to the trigeminal or fifth cranial nerve which provides sensory innervation to the face, oral cavity and sinuses and the muscles of mastication. Clinical features may include facial pain or sensory loss or weakness of jaw closure." [NCIT:C5122] synonym: "cranial nerve V neoplasms" EXACT [NCIT:C5122] synonym: "cranial nerve V tumors" EXACT [NCIT:C5122] +synonym: "cranial nerve V tumours" EXACT OMO:0003005 [] synonym: "fifth cranial nerve neoplasm" EXACT [NCIT:C5122] synonym: "fifth cranial nerve tumor" EXACT [NCIT:C5122] +synonym: "fifth cranial nerve tumour" EXACT OMO:0003005 [] synonym: "neoplasm of fifth cranial nerve" EXACT [NCIT:C5122] synonym: "neoplasm of the fifth cranial nerve" EXACT [NCIT:C5122] synonym: "neoplasm of the trigeminal nerve" EXACT [NCIT:C5122] @@ -19934,11 +20286,17 @@ synonym: "trigeminal nerve neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "trigeminal nerve neoplasms" EXACT [NCIT:C5122] synonym: "trigeminal nerve tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5122] synonym: "trigeminal nerve tumors" EXACT [NCIT:C5122] +synonym: "trigeminal nerve tumour" EXACT OMO:0003005 [] +synonym: "trigeminal nerve tumours" EXACT OMO:0003005 [] synonym: "tumor of fifth cranial nerve" EXACT [NCIT:C5122] synonym: "tumor of the fifth cranial nerve" EXACT [NCIT:C5122] synonym: "tumor of the trigeminal nerve" EXACT [NCIT:C5122] synonym: "tumor of trigeminal nerve" EXACT [DOID:1201, MONDO:patterns/neoplasm, NCIT:C5122] synonym: "tumors, cranial nerve V" EXACT [NCIT:C5122] +synonym: "tumour of fifth cranial nerve" EXACT OMO:0003005 [] +synonym: "tumour of the fifth cranial nerve" EXACT OMO:0003005 [] +synonym: "tumour of the trigeminal nerve" EXACT OMO:0003005 [] +synonym: "tumour of trigeminal nerve" EXACT OMO:0003005 [] xref: DOID:1201 {source="MONDO:equivalentTo"} xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C5122 {source="DOID:1201", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -19954,11 +20312,14 @@ name: frontal lobe neoplasm def: "A neoplasm involving a frontal lobe." [MONDO:patterns/neoplasm] synonym: "frontal lobe neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "frontal lobe tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "frontal lobe tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of frontal lobe" NARROW [DOID:12016] synonym: "neoplasm of frontal lobe" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the frontal lobe" EXACT [NCIT:C5572] synonym: "tumor of frontal lobe" EXACT [DOID:12016, MONDO:patterns/neoplasm, NCIT:C5572] synonym: "tumor of the frontal lobe" EXACT [NCIT:C5572] +synonym: "tumour of frontal lobe" EXACT OMO:0003005 [] +synonym: "tumour of the frontal lobe" EXACT OMO:0003005 [] xref: DOID:12016 {source="MONDO:equivalentTo"} xref: ICD10CM:C71.1 {source="DOID:12016"} xref: ICD9:191.1 {source="DOID:12016"} @@ -20616,6 +20977,7 @@ synonym: "malignant descending colon neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of descending colon" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of left colon" EXACT [DOID:12190] synonym: "malignant tumor of descending colon" EXACT [DOID:12190] +synonym: "malignant tumour of descending colon" EXACT OMO:0003005 [] xref: DOID:12190 {source="MONDO:equivalentTo"} xref: ICD10CM:C18.6 {source="DOID:12190"} xref: ICD9:153.2 {source="DOID:12190", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -20638,6 +21000,7 @@ synonym: "malignant neoplasm of splenic flexure" EXACT [DOID:12191, ICD9CM:153.7 synonym: "malignant neoplasm of splenic flexure of colon" EXACT [MONDO:patterns/cancer] synonym: "malignant splenic flexure of colon neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of splenic flexure" EXACT [DOID:12191] +synonym: "malignant tumour of splenic flexure" EXACT OMO:0003005 [] synonym: "splenic flexure of colon cancer" EXACT [MONDO:patterns/location] xref: DOID:12191 {source="MONDO:equivalentTo"} xref: ICD10CM:C18.5 {source="DOID:12191"} @@ -20660,6 +21023,7 @@ synonym: "cancer of sigmoid colon" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of sigmoid colon" EXACT [MONDO:patterns/cancer] synonym: "malignant sigmoid colon neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of sigmoid colon" EXACT [DOID:12192] +synonym: "malignant tumour of sigmoid colon" EXACT OMO:0003005 [] synonym: "sigmoid colon cancer" EXACT [MONDO:patterns/location] xref: DOID:12192 {source="MONDO:equivalentTo"} xref: ICD10CM:C18.7 {source="DOID:12192"} @@ -20915,6 +21279,7 @@ name: malignant tumor of undescended testis synonym: "malignant neoplasm of retained testis" EXACT [DOID:12276] synonym: "malignant neoplasm of undescended testis" EXACT [DOID:12276, ICD9CM:186.0] synonym: "malignant tumor of retained testis" EXACT [DOID:12276] +synonym: "malignant tumour of retained testis" EXACT OMO:0003005 [] xref: DOID:12276 {source="MONDO:equivalentTo"} xref: ICD10CM:C62.0 {source="DOID:12276"} xref: ICD9:186.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12276"} @@ -21488,10 +21853,13 @@ name: dysentery def: "Acute inflammation of the intestine associated with infectious diarrhea of various etiologies, generally acquired by eating contaminated food containing toxins, biological derived from bacteria or other microorganisms. Dysentery is characterized initially by watery feces then by bloody mucoid stools. It is often associated with abdominal pain; fever; and dehydration." [MESH:D004403] synonym: "diarrheal disease, infectious" EXACT [MESH:D004403] synonym: "dysenteric diarrhea" EXACT [] +synonym: "dysenteric diarrhoea" EXACT OMO:0003005 [] synonym: "infectious diarrhea" EXACT [DOID:12384, ICD9CM:009.2] synonym: "infectious diarrheal disease" EXACT [MESH:D004403] synonym: "infectious diarrheal diseases" EXACT [MESH:D004403] +synonym: "infectious diarrhoea" EXACT OMO:0003005 [] synonym: "infective diarrhea" EXACT [] +synonym: "infective diarrhoea" EXACT OMO:0003005 [] xref: DOID:12384 {source="MONDO:equivalentTo"} xref: EFO:1001869 {source="MONDO:equivalentTo"} xref: ICD9:009.2 {source="DOID:12384"} @@ -21586,6 +21954,7 @@ id: MONDO:0001522 name: pyromania def: "A disorder characterized by a fascination with fire and recurrent episodes of fire setting during which the individual experiences a rising subjective sense of tension before the fire setting and a sense of gratification or relief when setting the fire. There is no ulterior motive (such as monetary gain or the expression of political ideology) to the fire setting." [NCIT:P378] synonym: "firesetting behavior" EXACT [DOID:12402] +synonym: "firesetting behaviour" EXACT OMO:0003005 [] synonym: "pathological firesetting" EXACT [DOID:12402] xref: DOID:12402 {source="MONDO:equivalentTo"} xref: ICD10CM:F63.1 {source="DOID:12402", source="MONDO:equivalentTo"} @@ -21635,6 +22004,7 @@ synonym: "cancer of labium minora" EXACT [MONDO:patterns/cancer] synonym: "labium minora cancer" EXACT [MONDO:patterns/location] synonym: "malignant labia minora neoplasm" EXACT [NCIT:C7637] synonym: "malignant labia minora tumor" EXACT [NCIT:C7637] +synonym: "malignant labia minora tumour" EXACT OMO:0003005 [] synonym: "malignant labium minora neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of labia minora" EXACT [DOID:1243, ICD9CM:184.2, NCIT:C7637] synonym: "malignant neoplasm of labium minora" EXACT [MONDO:patterns/cancer] @@ -21642,6 +22012,8 @@ synonym: "malignant neoplasm of labium minus" EXACT [DOID:1243, MTH:U001388] synonym: "malignant neoplasm of the labia minora" EXACT [NCIT:C7637] synonym: "malignant tumor of labia minora" EXACT [DOID:1243, NCIT:C7637] synonym: "malignant tumor of the labia minora" EXACT [NCIT:C7637] +synonym: "malignant tumour of labia minora" EXACT OMO:0003005 [] +synonym: "malignant tumour of the labia minora" EXACT OMO:0003005 [] xref: DOID:1243 {source="MONDO:equivalentTo"} xref: ICD10CM:C51.1 {source="DOID:1243", source="MONDO:equivalentTo"} xref: ICD9:184.2 {source="DOID:1243", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -21680,10 +22052,14 @@ synonym: "malignant neoplasm of vulva, NOS" RELATED EXCLUDE [DOID:1245] synonym: "malignant neoplasm of vulva, unspecified" EXACT [DOID:1245, ICD9CM:184.4] synonym: "malignant tumor of the vulva" EXACT [NCIT:C7502] synonym: "malignant tumor of vulva" EXACT [NCIT:C7502] +synonym: "malignant tumour of the vulva" EXACT OMO:0003005 [] +synonym: "malignant tumour of vulva" EXACT OMO:0003005 [] synonym: "malignant vulva neoplasm" EXACT [NCIT:C7502] synonym: "malignant vulva tumor" EXACT [NCIT:C7502] +synonym: "malignant vulva tumour" EXACT OMO:0003005 [] synonym: "malignant vulvar neoplasm" EXACT [NCIT:C7502] synonym: "malignant vulvar tumor" EXACT [DOID:1245, NCIT:C7502] +synonym: "malignant vulvar tumour" EXACT OMO:0003005 [] synonym: "mammalian vulva cancer" EXACT [MONDO:patterns/location] synonym: "neoplasm of vulva" BROAD [DOID:1245] synonym: "vulval cancer" EXACT [DOID:1245] @@ -21691,6 +22067,7 @@ synonym: "vulval neoplasm" BROAD [DOID:1245] synonym: "vulvar cancer" EXACT [MONDO:patterns/location] synonym: "vulvar neoplasm" BROAD EXCLUDE [DOID:1245] synonym: "vulvar tumor" BROAD EXCLUDE [DOID:1245] +synonym: "vulvar tumour" BROAD OMO:0003005 [] xref: DOID:1245 {source="MONDO:equivalentTo"} xref: ICD10CM:C51 {source="DOID:1245"} xref: ICD10CM:C51.9 {source="DOID:1245"} @@ -21874,7 +22251,9 @@ intersection_of: disease_has_inflammation_site UBERON:0001301 ! epididymis id: MONDO:0001538 name: retinal ischemia def: "A ischemic disease that involves the retina." [MONDO:patterns/location] +synonym: "ischaemic disease of retina" EXACT OMO:0003005 [] synonym: "ischemic disease of retina" EXACT [MONDO:design_pattern] +synonym: "retina ischaemic disease" EXACT OMO:0003005 [] synonym: "retina ischemic disease" EXACT [MONDO:patterns/location] xref: DOID:12510 {source="MONDO:equivalentTo"} xref: ICD10CM:H35.82 {source="MONDO:equivalentTo", source="DOID:12510"} @@ -22047,6 +22426,7 @@ name: hemolytic-uremic syndrome def: "Acute kidney injury associated with microangiopathic hemolytic anemia and thrombocytopenia." [NCIT:P378] subset: disease_grouping subset: ordo_group_of_disorders +synonym: "acute renal failure, thrombocytopenia, and microangiopathic hemolytic anaemia associated with distorted erythrocytes ('burr cells')" RELATED OMO:0003005 [] synonym: "acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia associated with distorted erythrocytes ('burr cells')" RELATED [GARD:0006588] synonym: "haemolytic-uraemic syndrome" EXACT [DOID:12554] synonym: "hemolytic uremic syndrome" EXACT [DOID:12554] @@ -22416,6 +22796,7 @@ synonym: "acoustic neurinoma" EXACT [GARD:0000223, Orphanet:252175] synonym: "acoustic neuroma" EXACT [NCIT:C3276, Orphanet:252175] synonym: "acoustic schwannoma" EXACT [NCIT:C3276] synonym: "acoustic tumor" BROAD [GARD:0000223] +synonym: "acoustic tumour" BROAD OMO:0003005 [] synonym: "neurilemoma, acoustic" EXACT [NCIT:C3276] synonym: "neurinoma of the acoustic nerve" EXACT [GARD:0000223] synonym: "neuroma, acoustic" EXACT [NCIT:C3276] @@ -22475,11 +22856,13 @@ def: "A well-circumscribed benign smooth muscle neoplasm characterized by the pr synonym: "fibroid" EXACT [NCIT:C3157] synonym: "fibroid neoplasm" EXACT [NCIT:C3157] synonym: "fibroid tumor" EXACT [NCIT:C3157] +synonym: "fibroid tumour" EXACT OMO:0003005 [] synonym: "leiomyoma" EXACT [NCIT:C3157] synonym: "leiomyoma, benign" EXACT [NCIT:C3157] synonym: "leiomyomatous neoplasm" EXACT [NCIT:C3157] synonym: "leiomyomatous neoplasm (morphologic abnormality)" EXACT [DOID:127] synonym: "leiomyomatous tumor" EXACT [DOID:127, NCIT:C3157] +synonym: "leiomyomatous tumour" EXACT OMO:0003005 [] xref: DOID:127 {source="MONDO:equivalentTo"} xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:8890/0 {source="NCIT:C3157"} @@ -22611,11 +22994,14 @@ synonym: "lacrimal drainage system cancer" EXACT [MONDO:patterns/location] synonym: "malignant lacrimal drainage system neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant lacrimal duct neoplasm" EXACT [NCIT:C3567] synonym: "malignant lacrimal duct tumor" EXACT [NCIT:C3567] +synonym: "malignant lacrimal duct tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of lacrimal drainage system" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of lacrimal duct" EXACT [DOID:12756, ICD9CM:190.7, NCIT:C3567] synonym: "malignant neoplasm of the lacrimal duct" EXACT [NCIT:C3567] synonym: "malignant tumor of lacrimal duct" EXACT [DOID:12756, NCIT:C3567] synonym: "malignant tumor of the lacrimal duct" EXACT [NCIT:C3567] +synonym: "malignant tumour of lacrimal duct" EXACT OMO:0003005 [] +synonym: "malignant tumour of the lacrimal duct" EXACT OMO:0003005 [] xref: DOID:12756 {source="MONDO:equivalentTo"} xref: ICD9:190.7 {source="DOID:12756", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3567 {source="DOID:12756", source="MONDO:equivalentTo"} @@ -22926,6 +23312,7 @@ synonym: "benign lymphoepithelial lesion of salivary gland" EXACT [NCIT:C3949] synonym: "benign lymphoepithelial lesion of the salivary gland" RELATED [NCIT:C3949] synonym: "benign salivary gland lymphoepithelial lesion" RELATED [NCIT:C3949] synonym: "Godwin tumor" EXACT [DOID:12899, NCIT:C3949] +synonym: "Godwin tumour" EXACT OMO:0003005 [] xref: DOID:12899 {source="MONDO:equivalentTo"} xref: ICD10CM:K11.8 {source="DOID:12899"} xref: ICD9:527.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -23035,9 +23422,16 @@ replaced_by: MONDO:0003730 id: MONDO:0001606 name: central nervous system leukemia def: "Leukemia infiltrating the central nervous system structures." [NCIT:C5440] +synonym: "central nervous system leukaemia (disease)" EXACT OMO:0003005 [] synonym: "central nervous system leukemia" EXACT [NCIT:C5440] synonym: "central nervous system leukemia (disease)" EXACT [MONDO:patterns/location] +synonym: "CNS leukaemia" EXACT OMO:0003005 [] synonym: "CNS leukemia" EXACT [NCIT:C5440] +synonym: "leukaemia (disease) of central nervous system" EXACT OMO:0003005 [] +synonym: "leukaemia of central nervous system" EXACT OMO:0003005 [] +synonym: "leukaemia of CNS" EXACT OMO:0003005 [] +synonym: "leukaemia of the central nervous system" EXACT OMO:0003005 [] +synonym: "leukaemia of the CNS" EXACT OMO:0003005 [] synonym: "leukemia (disease) of central nervous system" EXACT [] synonym: "leukemia of central nervous system" EXACT [NCIT:C5440] synonym: "leukemia of CNS" EXACT [NCIT:C5440] @@ -23077,19 +23471,30 @@ synonym: "tenth cranial nerve neoplasm" EXACT [NCIT:C5831] synonym: "tenth cranial nerve neoplasms" EXACT [NCIT:C5831] synonym: "tenth cranial nerve tumor" EXACT [NCIT:C5831] synonym: "tenth cranial nerve tumors" EXACT [NCIT:C5831] +synonym: "tenth cranial nerve tumour" EXACT OMO:0003005 [] +synonym: "tenth cranial nerve tumours" EXACT OMO:0003005 [] synonym: "tumor of tenth cranial nerve" EXACT [NCIT:C5831] synonym: "tumor of the tenth cranial nerve" EXACT [NCIT:C5831] synonym: "tumor of the Vagus nerve" EXACT [NCIT:C5831] synonym: "tumor of Vagus nerve" EXACT [NCIT:C5831] synonym: "tumor of vagus nerve" EXACT [MONDO:patterns/neoplasm] +synonym: "tumour of tenth cranial nerve" EXACT OMO:0003005 [] +synonym: "tumour of the tenth cranial nerve" EXACT OMO:0003005 [] +synonym: "tumour of the Vagus nerve" EXACT OMO:0003005 [] +synonym: "tumour of Vagus nerve" EXACT OMO:0003005 [] +synonym: "tumour of vagus nerve" EXACT OMO:0003005 [] synonym: "Vagus nerve neoplasm" EXACT [NCIT:C5831] synonym: "vagus nerve neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "Vagus nerve neoplasms" EXACT [NCIT:C5831] synonym: "Vagus nerve tumor" EXACT [NCIT:C5831] synonym: "vagus nerve tumor" EXACT [MONDO:patterns/neoplasm] synonym: "Vagus nerve tumors" EXACT [DOID:12984, NCIT:C5831] +synonym: "Vagus nerve tumour" EXACT OMO:0003005 [] +synonym: "vagus nerve tumour" EXACT OMO:0003005 [] +synonym: "Vagus nerve tumours" EXACT OMO:0003005 [] synonym: "Xth cranial nerve neoplasms" EXACT [NCIT:C5831] synonym: "Xth cranial nerve tumors" EXACT [NCIT:C5831] +synonym: "Xth cranial nerve tumours" EXACT OMO:0003005 [] xref: DOID:12984 {source="MONDO:equivalentTo"} xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C5831 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:12984"} @@ -23197,6 +23602,7 @@ relationship: excluded_subClassOf MONDO:0005264 {source="DOID:13003"} ! transien id: MONDO:0001614 name: intra-abdominal lymph node mast cell malignancy synonym: "malignant mast cell tumors involving intra-abdominal lymph nodes" EXACT [DOID:13005, ICD9CM:202.63] +synonym: "malignant mast cell tumours involving intra-abdominal lymph nodes" EXACT OMO:0003005 [] synonym: "mast cell malignancy of intra-abdominal lymph nodes" EXACT [DOID:13005] xref: DOID:13005 {source="MONDO:equivalentTo"} xref: ICD9:202.63 {source="DOID:13005"} @@ -23576,6 +23982,7 @@ is_a: MONDO:0001519 {source="DOID:13113"} ! entropion [Term] id: MONDO:0001638 name: protein-deficiency anemia +synonym: "anaemia due to protein deficiency" EXACT OMO:0003005 [] synonym: "anemia due to protein deficiency" EXACT [DOID:13120] xref: DOID:13120 {source="MONDO:equivalentTo"} xref: ICD10CM:D53.0 {source="MONDO:equivalentTo", source="DOID:13120"} @@ -23590,6 +23997,7 @@ is_a: MONDO:0001639 {source="DOID:13120"} ! deficiency anemia id: MONDO:0001639 name: deficiency anemia synonym: "deficiency anemias" EXACT [DOID:13121] +synonym: "unspecified deficiency anaemia" EXACT OMO:0003005 [] synonym: "unspecified deficiency anemia" EXACT [DOID:13121, ICD9CM:281.9] xref: DOID:13121 {source="MONDO:equivalentTo"} xref: ICD9:281.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -23724,6 +24132,7 @@ def: "Esophagitis resulting from Candida." [NCIT:P378] synonym: "Candida esophagitis" EXACT [DOID:13146, NCIT:C27027] synonym: "candidal esophagitis" EXACT [DOID:13146, ICD9CM:112.84] synonym: "candidiasis of the esophagus" EXACT [NCIT:C27027] +synonym: "candidiasis of the oesophagus" EXACT OMO:0003005 [] synonym: "esophageal moniliasis" EXACT [DOID:13146] synonym: "esophageal thrush" EXACT [DOID:13146] xref: DOID:13146 {source="MONDO:equivalentTo"} @@ -23820,6 +24229,7 @@ synonym: "malignant neoplasm of foreskin" EXACT [DOID:13168] synonym: "malignant neoplasm of prepuce" EXACT [MONDO:patterns/cancer] synonym: "malignant prepuce neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of foreskin" EXACT [DOID:13168] +synonym: "malignant tumour of foreskin" EXACT OMO:0003005 [] synonym: "prepuce cancer" EXACT [MONDO:patterns/location] xref: DOID:13168 {source="MONDO:equivalentTo"} xref: ICD10CM:C60.0 {source="DOID:13168"} @@ -23840,8 +24250,11 @@ synonym: "malignant neoplasm of spermatic cord" EXACT [MONDO:patterns/cancer, NC synonym: "malignant neoplasm of the spermatic cord" EXACT [NCIT:C3559] synonym: "malignant spermatic cord neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant spermatic cord tumor" EXACT [NCIT:C3559] +synonym: "malignant spermatic cord tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of spermatic cord" EXACT [NCIT:C3559] synonym: "malignant tumor of the spermatic cord" EXACT [DOID:13169, NCIT:C3559] +synonym: "malignant tumour of spermatic cord" EXACT OMO:0003005 [] +synonym: "malignant tumour of the spermatic cord" EXACT OMO:0003005 [] synonym: "spermatic cord Ca" EXACT [DOID:13169] synonym: "spermatic cord cancer" EXACT [MONDO:patterns/location] xref: DOID:13169 {source="MONDO:equivalentTo"} @@ -23885,6 +24298,7 @@ id: MONDO:0001657 name: brain cancer def: "A primary or metastatic malignant neoplasm affecting the brain." [NCIT:C3568] synonym: "adult brain tumor" NARROW [DOID:1319] +synonym: "adult brain tumour" NARROW OMO:0003005 [] synonym: "adult malignant brain neoplasm" NARROW [DOID:1319] synonym: "brain cancer" EXACT [MONDO:patterns/location, NCIT:C3568] synonym: "brain neoplasm" BROAD [DOID:1319] @@ -23892,24 +24306,31 @@ synonym: "brain neoplasm, adult" RELATED [DOID:1319, NCIT:C7710] synonym: "brain neoplasms, malignant" EXACT [NCIT:C3568] synonym: "brain tumor, adult" RELATED [GARD:0009307] synonym: "BT - brain tumor" RELATED [DOID:1319] +synonym: "BT - brain tumour" RELATED OMO:0003005 [] synonym: "cancer of brain" EXACT [MONDO:patterns/cancer, NCIT:C3568] synonym: "cancer of the brain" EXACT [NCIT:C3568] synonym: "malignant brain neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3568] -synonym: "malignant brain tumor" EXACT [NCIT:C3568] -synonym: "malignant brain tumor" EXACT [DOID:1319] +synonym: "malignant brain tumor" EXACT [DOID:1319, NCIT:C3568] +synonym: "malignant brain tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of brain" EXACT [MONDO:patterns/cancer, NCIT:C3568] synonym: "malignant neoplasm of the brain" EXACT [NCIT:C3568] synonym: "malignant primary brain neoplasm" NARROW [DOID:1319, NCIT:C4954] synonym: "malignant primary brain tumor" NARROW [DOID:1319] +synonym: "malignant primary brain tumour" NARROW OMO:0003005 [] synonym: "malignant tumor of adult brain" NARROW [DOID:1319, NCIT:C5115] synonym: "malignant tumor of brain" EXACT [DOID:1319, NCIT:C3568] synonym: "malignant tumor of the brain" EXACT [NCIT:C3568] +synonym: "malignant tumour of adult brain" NARROW OMO:0003005 [] +synonym: "malignant tumour of brain" EXACT OMO:0003005 [] +synonym: "malignant tumour of the brain" EXACT OMO:0003005 [] synonym: "neoplasm of brain" RELATED EXCLUDE [DOID:1319] synonym: "neoplasm of unspecified nature of brain" RELATED [DOID:1319, ICD9CM:239.6] synonym: "primary brain neoplasm" RELATED [DOID:1319, NCIT:C4952] synonym: "primary brain tumor" RELATED [DOID:1319] +synonym: "primary brain tumour" RELATED OMO:0003005 [] synonym: "primary malignant neoplasm of brain" EXACT [DOID:1319] synonym: "tumor of the brain" BROAD [DOID:1319, NCIT:C2907] +synonym: "tumour of the brain" BROAD OMO:0003005 [] xref: CSP:2006-2736 {source="DOID:1319"} xref: DOID:1319 {source="MONDO:equivalentTo"} xref: ICD10CM:C71 {source="DOID:1319"} @@ -23953,12 +24374,14 @@ id: MONDO:0001658 name: nontoxic goiter def: "Sporadic enlargement of the thyroid gland that is not associated with changes in thyroid function or malignancy." [NCIT:P378] synonym: "euthyroid goiter" EXACT [NCIT:C35271] +synonym: "euthyroid goitre" EXACT OMO:0003005 [] synonym: "goiter, non-toxic" EXACT [DOID:13195] synonym: "goiter, non-toxic NOS" RELATED EXCLUDE [DOID:13195] synonym: "Nodule-thyroid, non tox" EXACT [DOID:13195] -synonym: "non-toxic goiter" EXACT [DOID:13195] -synonym: "non-toxic goiter" EXACT [NCIT:C35271] +synonym: "non-toxic goiter" EXACT [DOID:13195, NCIT:C35271] +synonym: "non-toxic goitre" EXACT OMO:0003005 [] synonym: "non-toxic simple goiter" EXACT [DOID:13195] +synonym: "non-toxic simple goitre" EXACT OMO:0003005 [] synonym: "nontoxic goiter" EXACT [DOID:13195, NCIT:C35271] xref: DOID:13195 {source="MONDO:equivalentTo"} xref: ICD10CM:E04.0 {source="DOID:13195"} @@ -24176,6 +24599,8 @@ synonym: "diarrhea" EXACT [DOID:13250] synonym: "diarrhea of presumed infectious origin" RELATED [DOID:13250] synonym: "diarrheal disease" EXACT [] synonym: "diarrheal disorder" EXACT [] +synonym: "diarrhoea" EXACT OMO:0003005 [] +synonym: "diarrhoea of presumed infectious origin" RELATED OMO:0003005 [] synonym: "frequent stools" EXACT [NCIT:C2987] synonym: "loose stools" EXACT [NCIT:C2987] xref: DOID:13250 {source="MONDO:equivalentTo"} @@ -24420,6 +24845,7 @@ synonym: "malignant laryngeal cartilage neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of laryngeal cartilage" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of laryngeal cartilages" EXACT [DOID:13348, ICD9CM:161.3] synonym: "malignant tumor of laryngeal cartilage" EXACT [DOID:13348] +synonym: "malignant tumour of laryngeal cartilage" EXACT OMO:0003005 [] xref: DOID:13348 {source="MONDO:equivalentTo"} xref: ICD10CM:C32.3 {source="DOID:13348"} xref: ICD9:161.3 {source="DOID:13348", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -24541,9 +24967,11 @@ def: "Anemia characterized by the presence of unusually large erythroblasts in t synonym: "Grasbeck-Imerslund syndrome" EXACT [DOID:13382] synonym: "IGS" RELATED ABBREVIATION [DOID:13382] synonym: "Imerslund-Grasbeck syndrome" RELATED EXCLUDE [DOID:13382] +synonym: "megaloblastic anaemia (disease)" EXACT OMO:0003005 [] synonym: "megaloblastic anemia" EXACT [MONDO:ambiguous] synonym: "megaloblastic anemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "MGA1 Norwegian type" EXACT [DOID:13382] +synonym: "recessive hereditary megaloblastic anaemia 1" EXACT OMO:0003005 [] synonym: "recessive hereditary megaloblastic anemia 1" EXACT [DOID:13382] synonym: "RH-MGA1" EXACT [DOID:13382] xref: DOID:13382 {source="MONDO:equivalentTo"} @@ -24606,11 +25034,14 @@ def: "The absence of or defect in the perception of colors." [NCIT:P378] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98658"} synonym: "blindness color" EXACT [DOID:13399, MTH:NOCODE] +synonym: "blindness colour" EXACT OMO:0003005 [] synonym: "color blindness" EXACT [DOID:13399] synonym: "color vision defects" EXACT [NCIT:C3891] -synonym: "color vision deficiency" EXACT [NCIT:C3891] -synonym: "color vision deficiency" EXACT [DOID:13399] +synonym: "color vision deficiency" EXACT [DOID:13399, NCIT:C3891] synonym: "color-vision disease" EXACT [MONDO:0020239] +synonym: "colour blindness" EXACT OMO:0003005 [] +synonym: "colour vision defects" EXACT OMO:0003005 [] +synonym: "colour vision deficiency" EXACT OMO:0003005 [] xref: DOID:13399 {source="MONDO:equivalentTo"} xref: ICD10CM:H53.5 {source="Orphanet:98658", source="DOID:13399", source="Orphanet:98658/attributed", source="Orphanet:98658/ntbt"} xref: ICD10CM:H53.50 {source="DOID:13399"} @@ -24638,6 +25069,7 @@ def: "A benign or malignant neoplasm that arises from the vagina and is characte synonym: "vagina glandular cell neoplasm" EXACT [MONDO:patterns/location] synonym: "vaginal glandular neoplasm" EXACT [NCIT:C40250] synonym: "vaginal glandular tumor" EXACT [NCIT:C40250] +synonym: "vaginal glandular tumour" EXACT OMO:0003005 [] xref: DOID:134 {source="MONDO:equivalentTo"} xref: NCIT:C40250 {source="MONDO:equivalentTo", source="DOID:134"} xref: UMLS:C1519921 {source="MONDO:equivalentTo", source="NCIT:C40250", source="DOID:134"} @@ -24810,11 +25242,17 @@ def: "An inborn condition characterized by deficiencies of red cell precursors t comment: In DO this is classified as idiopathic; however, ORDO classifies idiopathic as acquired which leads to an inconsistency subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:68383"} +synonym: "congenital aplastic anaemia" RELATED OMO:0003005 [] synonym: "congenital aplastic anemia" RELATED [] +synonym: "congenital hypoplastic anaemia" RELATED OMO:0003005 [] synonym: "congenital hypoplastic anemia" RELATED [DOID:1342] +synonym: "constitutional aplastic anaemia" EXACT OMO:0003005 [] synonym: "constitutional aplastic anemia" EXACT [DOID:1342] +synonym: "hereditary aplastic anaemia" EXACT OMO:0003005 [] synonym: "hereditary aplastic anemia" EXACT [MONDO:patterns/hereditary] +synonym: "hypoplastic anaemia - familial" RELATED OMO:0003005 [] synonym: "hypoplastic anemia - familial" RELATED [] +synonym: "rare constitutional aplastic anaemia" NARROW OMO:0003005 [] synonym: "rare constitutional aplastic anemia" NARROW [Orphanet:68383] xref: DOID:1342 {source="MONDO:equivalentTo"} xref: ICD10CM:D61.0 {source="DOID:1342", source="MONDO:equivalentTo", source="Orphanet:68383", source="Orphanet:68383/attributed", source="Orphanet:68383/ntbt"} @@ -25006,10 +25444,14 @@ synonym: "malignant neoplasm of the supraglottis" EXACT [NCIT:C3545] synonym: "malignant supraglottic neoplasm" EXACT [NCIT:C3545] synonym: "malignant supraglottic part of larynx neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant supraglottic tumor" EXACT [DOID:13476, NCIT:C3545] +synonym: "malignant supraglottic tumour" EXACT OMO:0003005 [] synonym: "malignant supraglottis neoplasm" EXACT [NCIT:C3545] synonym: "malignant supraglottis tumor" EXACT [NCIT:C3545] +synonym: "malignant supraglottis tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of supraglottis" EXACT [NCIT:C3545] synonym: "malignant tumor of the supraglottis" EXACT [NCIT:C3545] +synonym: "malignant tumour of supraglottis" EXACT OMO:0003005 [] +synonym: "malignant tumour of the supraglottis" EXACT OMO:0003005 [] synonym: "supraglottic part of larynx cancer" EXACT [MONDO:patterns/location] xref: DOID:13476 {source="MONDO:equivalentTo"} xref: ICD10CM:C32.1 {source="MONDO:equivalentTo", source="DOID:13476"} @@ -25115,6 +25557,7 @@ def: "A non-metastasizing neoplasm that arises from the vagina and is characteri synonym: "benign vaginal carcinosarcoma" RELATED [DOID:135] synonym: "benign vaginal mixed epithelial and mesenchymal neoplasm" EXACT [NCIT:C40275] synonym: "benign vaginal mixed epithelial and mesenchymal tumor" EXACT [NCIT:C40275] +synonym: "benign vaginal mixed epithelial and mesenchymal tumour" EXACT OMO:0003005 [] xref: DOID:135 {source="MONDO:equivalentTo"} xref: NCIT:C40275 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:135"} xref: UMLS:C1511106 {source="MONDO:equivalentTo", source="NCIT:C40275", source="DOID:135"} @@ -25397,6 +25840,7 @@ is_a: MONDO:0007886 {source="DOID:13560"} ! uterine corpus leiomyoma id: MONDO:0001746 name: optic disk drusen def: "Optic disk bodies composed primarily of acid mucopolysaccharides that may produce pseudopapilledema (elevation of the optic disk without associated intracranial hypertension) and visual field deficits. Drusen may also occur in the retina (see retinal drusen). (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p355)" [MESH:D015594] +synonym: "drusen of optic disc" EXACT OMO:0003005 [] synonym: "drusen of optic disk" EXACT [DOID:13561, ICD9CM:377.21] synonym: "optic nerve head drusen" EXACT [DOID:13561] xref: DOID:13561 {source="MONDO:equivalentTo"} @@ -25425,11 +25869,14 @@ synonym: "cancer of maxillary sinus" EXACT [MONDO:patterns/cancer] synonym: "carcinoma of maxillary sinus" EXACT [MONDO:patterns/carcinoma] synonym: "malignant maxillary sinus neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3540] synonym: "malignant maxillary sinus tumor" EXACT [NCIT:C3540] +synonym: "malignant maxillary sinus tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of antrum" EXACT [DOID:1357] synonym: "malignant neoplasm of maxillary sinus" EXACT [MONDO:patterns/cancer, NCIT:C3540] synonym: "malignant neoplasm of the maxillary sinus" EXACT [NCIT:C3540] synonym: "malignant tumor of maxillary sinus" EXACT [NCIT:C3540] synonym: "malignant tumor of the maxillary sinus" EXACT [DOID:1357, NCIT:C3540] +synonym: "malignant tumour of maxillary sinus" EXACT OMO:0003005 [] +synonym: "malignant tumour of the maxillary sinus" EXACT OMO:0003005 [] synonym: "maxillary sinus cancer" EXACT [MONDO:patterns/location, NCIT:C9332] synonym: "maxillary sinus carcinoma" EXACT [NCIT:C9332] xref: DOID:1357 {source="MONDO:equivalentTo"} @@ -25565,10 +26012,13 @@ synonym: "cancer of frontal sinus" EXACT [MONDO:patterns/cancer] synonym: "frontal sinus cancer" EXACT [MONDO:patterns/location] synonym: "malignant frontal sinus neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant frontal sinus tumor" EXACT [NCIT:C3542] +synonym: "malignant frontal sinus tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of frontal sinus" EXACT [DOID:1360, ICD9CM:160.4, MONDO:patterns/cancer, MTH:U001261] synonym: "malignant neoplasm of the frontal sinus" EXACT [NCIT:C3542] synonym: "malignant tumor of frontal sinus" EXACT [NCIT:C3542] synonym: "malignant tumor of the frontal sinus" EXACT [DOID:1360, NCIT:C3542] +synonym: "malignant tumour of frontal sinus" EXACT OMO:0003005 [] +synonym: "malignant tumour of the frontal sinus" EXACT OMO:0003005 [] xref: DOID:1360 {source="MONDO:equivalentTo"} xref: ICD10CM:C31.2 {source="MONDO:equivalentTo", source="DOID:1360"} xref: ICD9:160.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1360"} @@ -25588,10 +26038,13 @@ alt_id: MONDO:0021214 def: "A benign or malignant neoplasm that affects the frontal sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma." [NCIT:P378] synonym: "frontal sinus neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "frontal sinus tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4419] +synonym: "frontal sinus tumour" EXACT OMO:0003005 [] synonym: "neoplasm of frontal sinus" EXACT [MONDO:patterns/neoplasm, NCIT:C4419] synonym: "neoplasm of the frontal sinus" EXACT [NCIT:C4419] synonym: "tumor of frontal sinus" EXACT [MONDO:patterns/neoplasm, NCIT:C4419] synonym: "tumor of the frontal sinus" EXACT [DOID:1361, NCIT:C4419] +synonym: "tumour of frontal sinus" EXACT OMO:0003005 [] +synonym: "tumour of the frontal sinus" EXACT OMO:0003005 [] xref: DOID:1361 {source="MONDO:equivalentTo"} xref: NCIT:C4419 {source="DOID:1361", source="MONDO:equivalentTo"} xref: SCTID:126678005 {source="DOID:1361", source="MONDO:equivalentTo"} @@ -25677,8 +26130,10 @@ synonym: "cancer of ethmoid sinus" EXACT [MONDO:patterns/cancer] synonym: "ethmoid sinus cancer" EXACT [MONDO:patterns/location] synonym: "malignant ethmoid sinus neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant ethmoid sinus tumor" EXACT [NCIT:C3541] +synonym: "malignant ethmoid sinus tumour" EXACT OMO:0003005 [] synonym: "malignant ethmoidal sinus neoplasm" EXACT [NCIT:C3541] synonym: "malignant ethmoidal sinus tumor" EXACT [NCIT:C3541] +synonym: "malignant ethmoidal sinus tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of ethmoid sinus" EXACT [MONDO:patterns/cancer, NCIT:C3541] synonym: "malignant neoplasm of ethmoidal sinus" EXACT [DOID:1363, ICD9CM:160.3] synonym: "malignant neoplasm of the ethmoid sinus" EXACT [NCIT:C3541] @@ -25687,6 +26142,10 @@ synonym: "malignant tumor of ethmoid sinus" EXACT [NCIT:C3541] synonym: "malignant tumor of ethmoidal sinus" EXACT [DOID:1363, NCIT:C3541] synonym: "malignant tumor of the ethmoid sinus" EXACT [NCIT:C3541] synonym: "malignant tumor of the ethmoidal sinus" EXACT [NCIT:C3541] +synonym: "malignant tumour of ethmoid sinus" EXACT OMO:0003005 [] +synonym: "malignant tumour of ethmoidal sinus" EXACT OMO:0003005 [] +synonym: "malignant tumour of the ethmoid sinus" EXACT OMO:0003005 [] +synonym: "malignant tumour of the ethmoidal sinus" EXACT OMO:0003005 [] xref: DOID:1363 {source="MONDO:equivalentTo"} xref: ICD10CM:C31.1 {source="DOID:1363", source="MONDO:equivalentTo"} xref: ICD9:160.3 {source="DOID:1363", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -25707,8 +26166,10 @@ def: "A benign or malignant neoplasm that affects the ethmoid sinus. Representat synonym: "ethmoid sinus neoplasm" EXACT [NCIT:C4416] synonym: "ethmoid sinus neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "ethmoid sinus tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4416] +synonym: "ethmoid sinus tumour" EXACT OMO:0003005 [] synonym: "ethmoidal sinus neoplasm" EXACT [NCIT:C4416] synonym: "ethmoidal sinus tumor" EXACT [NCIT:C4416] +synonym: "ethmoidal sinus tumour" EXACT OMO:0003005 [] synonym: "neoplasm of ethmoid sinus" EXACT [MONDO:patterns/neoplasm, NCIT:C4416] synonym: "neoplasm of ethmoidal sinus" EXACT [NCIT:C4416] synonym: "neoplasm of the ethmoid sinus" EXACT [NCIT:C4416] @@ -25717,6 +26178,10 @@ synonym: "tumor of ethmoid sinus" EXACT [MONDO:patterns/neoplasm, NCIT:C4416] synonym: "tumor of ethmoidal sinus" EXACT [DOID:1364, NCIT:C4416] synonym: "tumor of the ethmoid sinus" EXACT [NCIT:C4416] synonym: "tumor of the ethmoidal sinus" EXACT [NCIT:C4416] +synonym: "tumour of ethmoid sinus" EXACT OMO:0003005 [] +synonym: "tumour of ethmoidal sinus" EXACT OMO:0003005 [] +synonym: "tumour of the ethmoid sinus" EXACT OMO:0003005 [] +synonym: "tumour of the ethmoidal sinus" EXACT OMO:0003005 [] xref: DOID:1364 {source="MONDO:equivalentTo"} xref: NCIT:C4416 {source="DOID:1364", source="MONDO:equivalentTo"} xref: SCTID:126677000 {source="DOID:1364", source="MONDO:equivalentTo"} @@ -25830,6 +26295,7 @@ is_a: MONDO:0001593 {source="DOID:13662"} ! rectal disorder id: MONDO:0001773 name: post-vaccinal encephalitis def: "An acute or subacute inflammatory process of the central nervous system characterized histologically by multiple foci of perivascular demyelination. Symptom onset usually occurs several days after an acute viral infection or immunization, but it may coincide with the onset of infection or rarely no antecedent event can be identified. Clinical manifestations include confusion, somnolence, fever, nuchal rigidity, and involuntary movements. The illness may progress to coma and eventually be fatal. (Adams et al., Principles of Neurology, 6th ed, p921)" [MESH:D004673] +synonym: "encephalitis following immunisation procedures" EXACT OMO:0003005 [] synonym: "encephalitis following immunization procedures" EXACT [DOID:13664, ICD9CM:323.5] synonym: "postvaccinal encephalomyelitis" EXACT [DOID:13664] xref: DOID:13664 {source="MONDO:equivalentTo"} @@ -25889,6 +26355,7 @@ id: MONDO:0001777 name: acute gonococcal cystitis def: "Acute form of gonococcal cystitis." [MONDO:patterns/acute] synonym: "acute gonorrhea of bladder" EXACT [DOID:13690] +synonym: "acute gonorrhoea of bladder" EXACT OMO:0003005 [] synonym: "gonococcal cystitis" RELATED EXCLUDE [DOID:13690] synonym: "gonococcal cystitis (acute)" EXACT [DOID:13690, ICD9CM:098.11] synonym: "gonococcal cystitis, acute" EXACT [MONDO:patterns/acute] @@ -25970,7 +26437,9 @@ id: MONDO:0001781 name: uterine corpus adenomatoid tumor def: "A benign mesothelial tumor of the serosal surface of the uterine body and myometrium. It is characterized by the presence of gland-like structures." [NCIT:C27250] synonym: "body of uterus adenomatoid tumor" EXACT [MONDO:patterns/location] +synonym: "body of uterus adenomatoid tumour" EXACT OMO:0003005 [] synonym: "uterine corpus adenomatoid tumor" EXACT [NCIT:C27250] +synonym: "uterine corpus localised epithelial mesothelioma" EXACT OMO:0003005 [] synonym: "uterine corpus localized epithelial mesothelioma" EXACT [DOID:1371, NCIT:C27250] xref: DOID:1371 {source="MONDO:equivalentTo"} xref: NCIT:C27250 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:1371"} @@ -26255,6 +26724,7 @@ is_a: MONDO:0006816 {source="DOID:13781"} ! arthropathy [Term] id: MONDO:0001799 name: localized anterior staphyloma +synonym: "anterior staphyloma, localised" EXACT OMO:0003005 [] synonym: "anterior staphyloma, localized" EXACT [DOID:13787, ICD9CM:379.14] xref: DOID:13787 {source="MONDO:equivalentTo"} xref: ICD10CM:H15.82 {source="DOID:13787"} @@ -26698,6 +27168,9 @@ def: "Non-heritable difficulty in distinguishing colors." [NCIT:P378] synonym: "acquired color vision deficiencies" EXACT [DOID:13912, ICD9CM:368.55] synonym: "acquired color vision deficiency" EXACT [DOID:13912] synonym: "acquired color vision disorder" EXACT [MONDO:patterns/acquired] +synonym: "acquired colour vision deficiencies" EXACT OMO:0003005 [] +synonym: "acquired colour vision deficiency" EXACT OMO:0003005 [] +synonym: "acquired colour vision disorder" EXACT OMO:0003005 [] xref: DOID:13912 {source="MONDO:equivalentTo"} xref: ICD10CM:H53.52 {source="DOID:13912", source="MONDO:equivalentTo"} xref: ICD9:368.55 {source="DOID:13912", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -26923,6 +27396,7 @@ name: uterine corpus dissecting leiomyoma def: "A rare morphologic variant of uterine corpus leiomyoma. Macroscopically, it is characterized by large, fungating, and multinodular neoplasm masses arising from the uterine corpus, and extending into the broad ligament or the peritoneal cavity. Microscopically, it shows neoplastic smooth muscle cells infiltrating the myometrium. The neoplastic cells are arranged in a micronodular pattern. Hydropic changes and increased vascularity are also present." [NCIT:P378] synonym: "Cotyledonoid dissecting leiomyoma" EXACT [NCIT:C40172] synonym: "Sternberg tumor" EXACT [NCIT:C40172] +synonym: "Sternberg tumour" EXACT OMO:0003005 [] xref: DOID:13953 {source="MONDO:equivalentTo"} xref: NCIT:C40172 {source="DOID:13953", source="MONDO:equivalentTo"} xref: UMLS:C1519847 {source="DOID:13953", source="MONDO:equivalentTo", source="NCIT:C40172"} @@ -27208,8 +27682,11 @@ is_a: MONDO:0019369 {source="DOID:14022"} ! complex regional pain syndrome [Term] id: MONDO:0001860 name: folic acid deficiency anemia +synonym: "folate deficiency anaemia" EXACT OMO:0003005 [] synonym: "folate deficiency anemia" EXACT [DOID:14026] +synonym: "folate-deficiency anaemia" EXACT OMO:0003005 [] synonym: "folate-deficiency anemia" EXACT [DOID:14026, ICD9CM:281.2] +synonym: "folate-deficient megaloblastic anaemia" EXACT OMO:0003005 [] synonym: "folate-deficient megaloblastic anemia" EXACT [DOID:14026] xref: DOID:14026 {source="MONDO:equivalentTo"} xref: ICD10CM:D52 {source="DOID:14026"} @@ -27343,6 +27820,8 @@ synonym: "malignant neoplasm of paraurethral gland" EXACT [MONDO:patterns/cancer synonym: "malignant paraurethral gland neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of paraurethral gland" EXACT [DOID:14059] synonym: "malignant tumor of the paraurethral gland" EXACT [DOID:14059, NCIT:C3561] +synonym: "malignant tumour of paraurethral gland" EXACT OMO:0003005 [] +synonym: "malignant tumour of the paraurethral gland" EXACT OMO:0003005 [] synonym: "paraurethral gland cancer" EXACT [MONDO:patterns/location] xref: DOID:14059 {source="MONDO:equivalentTo"} xref: ICD10CM:C68.1 {source="DOID:14059"} @@ -27518,11 +27997,14 @@ synonym: "anus cancer" EXACT [MONDO:patterns/location] synonym: "cancer of anus" EXACT [MONDO:patterns/cancer] synonym: "malignant anal neoplasm" EXACT [NCIT:C7379] synonym: "malignant anal tumor" EXACT [DOID:14110, NCIT:C7379] +synonym: "malignant anal tumour" EXACT OMO:0003005 [] synonym: "malignant anus neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of anus" EXACT [MONDO:patterns/cancer, NCIT:C7379] synonym: "malignant neoplasm of the anus" EXACT [NCIT:C7379] synonym: "malignant tumor of anus" EXACT [NCIT:C7379] synonym: "malignant tumor of the anus" EXACT [NCIT:C7379] +synonym: "malignant tumour of anus" EXACT OMO:0003005 [] +synonym: "malignant tumour of the anus" EXACT OMO:0003005 [] xref: DOID:14110 {source="MONDO:equivalentTo"} xref: ICD10CM:C21.0 {source="DOID:14110"} xref: ICD10CM:C21.1 {source="DOID:14110"} @@ -27619,6 +28101,8 @@ synonym: "abducens nerve neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "abducens nerve neoplasms" EXACT [NCIT:C5826] synonym: "abducens nerve tumor" EXACT [MONDO:patterns/neoplasm] synonym: "abducens nerve tumors" EXACT [NCIT:C5826] +synonym: "abducens nerve tumour" EXACT OMO:0003005 [] +synonym: "abducens nerve tumours" EXACT OMO:0003005 [] synonym: "neoplasm of abducens nerve" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of sixth cranial nerve" EXACT [NCIT:C5826] synonym: "neoplasm of the abducens nerve" EXACT [NCIT:C5826] @@ -27627,12 +28111,19 @@ synonym: "sixth cranial nerve neoplasm" EXACT [NCIT:C5826] synonym: "sixth cranial nerve neoplasms" EXACT [NCIT:C5826] synonym: "sixth cranial nerve tumor" EXACT [NCIT:C5826] synonym: "sixth cranial nerve tumors" EXACT [NCIT:C5826] +synonym: "sixth cranial nerve tumour" EXACT OMO:0003005 [] +synonym: "sixth cranial nerve tumours" EXACT OMO:0003005 [] synonym: "tumor of abducens nerve" EXACT [MONDO:patterns/neoplasm, NCIT:C5826] synonym: "tumor of sixth cranial nerve" EXACT [NCIT:C5826] synonym: "tumor of the abducens nerve" EXACT [NCIT:C5826] synonym: "tumor of the sixth cranial nerve" EXACT [NCIT:C5826] +synonym: "tumour of abducens nerve" EXACT OMO:0003005 [] +synonym: "tumour of sixth cranial nerve" EXACT OMO:0003005 [] +synonym: "tumour of the abducens nerve" EXACT OMO:0003005 [] +synonym: "tumour of the sixth cranial nerve" EXACT OMO:0003005 [] synonym: "VIth cranial nerve neoplasms" EXACT [NCIT:C5826] synonym: "VIth cranial nerve tumors" EXACT [DOID:14125, NCIT:C5826] +synonym: "VIth cranial nerve tumours" EXACT OMO:0003005 [] xref: DOID:14125 {source="MONDO:equivalentTo"} xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C5826 {source="MONDO:equivalentTo", source="DOID:14125"} @@ -28666,6 +29157,7 @@ synonym: "malignant parietal lobe neoplasm" EXACT [MONDO:patterns/cancer] synonym: "parietal lobe cancer" EXACT [MONDO:patterns/location] synonym: "parietal lobe neoplasm" RELATED [DOID:14384] synonym: "tumor of parietal lobe" RELATED EXCLUDE [DOID:14384] +synonym: "tumour of parietal lobe" RELATED OMO:0003005 [] xref: DOID:14384 {source="MONDO:equivalentTo"} xref: ICD10CM:C71.3 {source="DOID:14384", source="MONDO:equivalentTo"} xref: ICD9:191.3 {source="DOID:14384", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -29035,6 +29527,7 @@ id: MONDO:0001978 name: regional ureteric cancer def: "Carcinoma of the ureter without spread to any other region." [NCIT:P378] synonym: "regional malignant ureteral tumor" EXACT [DOID:14491, NCIT:C8716] +synonym: "regional malignant ureteral tumour" EXACT OMO:0003005 [] synonym: "regional ureter carcinoma" EXACT [NCIT:C9356] synonym: "regional ureteric carcinoma" EXACT [DOID:14491, NCIT:C9356] xref: DOID:14491 {source="MONDO:equivalentTo"} @@ -29213,17 +29706,21 @@ id: MONDO:0001990 name: malignant cardiac peripheral nerve sheath neoplasm def: "A very rare malignant peripheral nerve sheath tumor that arises from the heart." [NCIT:P378] synonym: "Cardiac malignant peripheral nerve sheath tumor" EXACT [NCIT:C5367] +synonym: "Cardiac malignant peripheral nerve sheath tumour" EXACT OMO:0003005 [] synonym: "Cardiac MPNST" EXACT [NCIT:C5367] synonym: "CARDIAC schwannoma, malignant" EXACT [NCIT:C5367] synonym: "heart malignant peripheral nerve sheath tumor" EXACT [NCIT:C5367] +synonym: "heart malignant peripheral nerve sheath tumour" EXACT OMO:0003005 [] synonym: "heart MPNST" EXACT [NCIT:C5367] synonym: "malignant Cardiac neurilemmoma" EXACT [NCIT:C5367] synonym: "malignant Cardiac peripheral nerve sheath neoplasm" EXACT [NCIT:C5367] synonym: "malignant Cardiac peripheral nerve sheath tumor" EXACT [NCIT:C5367] +synonym: "malignant Cardiac peripheral nerve sheath tumour" EXACT OMO:0003005 [] synonym: "malignant Cardiac schwannoma" EXACT [NCIT:C5367] synonym: "malignant heart neurilemmoma" EXACT [NCIT:C5367] synonym: "malignant heart peripheral nerve sheath neoplasm" EXACT [NCIT:C5367] synonym: "malignant heart peripheral nerve sheath tumor" EXACT [NCIT:C5367] +synonym: "malignant heart peripheral nerve sheath tumour" EXACT OMO:0003005 [] synonym: "malignant heart schwannoma" EXACT [NCIT:C5367] synonym: "malignant neurilemmoma of heart" EXACT [NCIT:C5367] synonym: "malignant neurilemmoma of the heart" EXACT [NCIT:C5367] @@ -29231,6 +29728,8 @@ synonym: "malignant peripheral nerve sheath neoplasm of heart" EXACT [NCIT:C5367 synonym: "malignant peripheral nerve sheath neoplasm of the heart" EXACT [NCIT:C5367] synonym: "malignant peripheral nerve sheath tumor of heart" EXACT [NCIT:C5367] synonym: "malignant peripheral nerve sheath tumor of the heart" EXACT [NCIT:C5367] +synonym: "malignant peripheral nerve sheath tumour of heart" EXACT OMO:0003005 [] +synonym: "malignant peripheral nerve sheath tumour of the heart" EXACT OMO:0003005 [] synonym: "malignant schwannoma of heart" EXACT [NCIT:C5367] synonym: "malignant schwannoma of the heart" EXACT [NCIT:C5367] synonym: "MPNST of heart" EXACT [DOID:14534, NCIT:C5367] @@ -29247,12 +29746,16 @@ name: malignant cardiac germ cell tumor def: "A rare malignant germ cell tumor that arises from the pericardium." [NCIT:C5371] synonym: "malignant Cardiac germ cell neoplasm" EXACT [NCIT:C5371] synonym: "malignant Cardiac germ cell tumor" EXACT [NCIT:C5371] +synonym: "malignant Cardiac germ cell tumour" EXACT OMO:0003005 [] synonym: "malignant germ cell neoplasm of heart" EXACT [NCIT:C5371] synonym: "malignant germ cell neoplasm of the heart" EXACT [NCIT:C5371] synonym: "malignant germ cell tumor of heart" EXACT [NCIT:C5371] synonym: "malignant germ cell tumor of the heart" EXACT [DOID:14535, NCIT:C5371] +synonym: "malignant germ cell tumour of heart" EXACT OMO:0003005 [] +synonym: "malignant germ cell tumour of the heart" EXACT OMO:0003005 [] synonym: "malignant heart germ cell neoplasm" EXACT [NCIT:C5371] synonym: "malignant heart germ cell tumor" EXACT [NCIT:C5371] +synonym: "malignant heart germ cell tumour" EXACT OMO:0003005 [] xref: DOID:14535 {source="MONDO:equivalentTo"} xref: NCIT:C5371 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:14535"} xref: UMLS:C1334566 {source="NCIT:C5371", source="MONDO:equivalentTo", source="DOID:14535"} @@ -29300,12 +29803,18 @@ synonym: "malignant neoplasm of the sphenoid sinus" EXACT [NCIT:C3543] synonym: "malignant neoplasm of the sphenoidal sinus" EXACT [NCIT:C3543] synonym: "malignant sphenoid sinus neoplasm" EXACT [NCIT:C3543] synonym: "malignant sphenoid sinus tumor" EXACT [NCIT:C3543] +synonym: "malignant sphenoid sinus tumour" EXACT OMO:0003005 [] synonym: "malignant sphenoidal sinus neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3543] synonym: "malignant sphenoidal sinus tumor" EXACT [NCIT:C3543] +synonym: "malignant sphenoidal sinus tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of sphenoid sinus" EXACT [NCIT:C3543] synonym: "malignant tumor of sphenoidal sinus" EXACT [DOID:14546, NCIT:C3543] synonym: "malignant tumor of the sphenoid sinus" EXACT [NCIT:C3543] synonym: "malignant tumor of the sphenoidal sinus" EXACT [NCIT:C3543] +synonym: "malignant tumour of sphenoid sinus" EXACT OMO:0003005 [] +synonym: "malignant tumour of sphenoidal sinus" EXACT OMO:0003005 [] +synonym: "malignant tumour of the sphenoid sinus" EXACT OMO:0003005 [] +synonym: "malignant tumour of the sphenoidal sinus" EXACT OMO:0003005 [] synonym: "sphenoidal sinus cancer" EXACT [MONDO:patterns/location] xref: DOID:14546 {source="MONDO:equivalentTo"} xref: ICD10CM:C31.3 {source="MONDO:equivalentTo", source="DOID:14546"} @@ -29435,8 +29944,10 @@ id: MONDO:0002003 name: papilledema def: "Swelling around the optic disk, usually due to increased intracranial pressure or pressure on the optic nerve by a tumor." [NCIT:C3307] subset: gard_rare {source="GARD:0007318"} +synonym: "Choked disc" RELATED OMO:0003005 [] synonym: "Choked disk" RELATED [GARD:0007318] synonym: "edema of the optic disk" RELATED [GARD:0007318] +synonym: "oedema of the optic disc" RELATED OMO:0003005 [] synonym: "papilloedema" EXACT [NCIT:C3307] xref: DOID:146 {source="MONDO:equivalentTo"} xref: ICD10CM:H46.0 {source="DOID:146"} @@ -29981,11 +30492,14 @@ synonym: "cancer of caecum" EXACT [MONDO:patterns/cancer] synonym: "malignant caecum neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant cecum neoplasm" EXACT [NCIT:C9329] synonym: "malignant cecum tumor" EXACT [NCIT:C9329] +synonym: "malignant cecum tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of caecum" EXACT [DOID:1521, MONDO:patterns/cancer] synonym: "malignant neoplasm of cecum" EXACT [NCIT:C9329] synonym: "malignant neoplasm of the cecum" EXACT [NCIT:C9329] synonym: "malignant tumor of cecum" EXACT [NCIT:C9329] synonym: "malignant tumor of the cecum" EXACT [DOID:1521, NCIT:C9329] +synonym: "malignant tumour of cecum" EXACT OMO:0003005 [] +synonym: "malignant tumour of the cecum" EXACT OMO:0003005 [] xref: DOID:1521 {source="MONDO:equivalentTo"} xref: ICD10CM:C18.0 {source="DOID:1521"} xref: ICD9:153.4 {source="DOID:1521"} @@ -30718,6 +31232,7 @@ def: "Primary and metastatic (secondary) tumors of the brain located above the t synonym: "brain neoplasm, supratentorial" EXACT [DOID:1659, NCIT:C3397] synonym: "malignant supratentorial neoplasm" EXACT [NCIT:C4964] synonym: "malignant supratentorial tumor" EXACT [DOID:1659, NCIT:C4964] +synonym: "malignant supratentorial tumour" EXACT OMO:0003005 [] synonym: "supratentorial neoplasms, malignant" EXACT [NCIT:C4964] xref: DOID:1659 {source="MONDO:equivalentTo"} xref: ICD10CM:C71.0 {source="DOID:1659"} @@ -30737,10 +31252,15 @@ synonym: "infantile melanotic neuroectodermal neoplasm" EXACT [DOID:166, NCIT:C3 synonym: "melanotic neuroectodermal tumor (morphologic abnormality)" EXACT [DOID:166] synonym: "melanotic neuroectodermal tumor of infancy" EXACT [NCIT:C3717] synonym: "melanotic neuroectodermal tumor of infancy (morphologic abnormality)" EXACT [DOID:166] +synonym: "melanotic neuroectodermal tumour (morphologic abnormality)" EXACT OMO:0003005 [] +synonym: "melanotic neuroectodermal tumour of infancy" EXACT OMO:0003005 [] +synonym: "melanotic neuroectodermal tumour of infancy (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "melanotic Progonoma" EXACT [NCIT:C3717] synonym: "MNTI" EXACT ABBREVIATION [NCIT:C3717] synonym: "pigmented neuroectodermal tumor" EXACT [NCIT:C3717] synonym: "pigmented neuroectodermal tumor of infancy" EXACT [DOID:166] +synonym: "pigmented neuroectodermal tumour" EXACT OMO:0003005 [] +synonym: "pigmented neuroectodermal tumour of infancy" EXACT OMO:0003005 [] synonym: "retinal anlage neoplasm" EXACT [NCIT:C3717] xref: DOID:166 {source="MONDO:equivalentTo"} xref: EFO:1001038 {source="MONDO:equivalentTo"} @@ -30767,17 +31287,28 @@ synonym: "malignant germ cell tumor of pineal gland" EXACT [NCIT:C6767] synonym: "malignant germ cell tumor of pineal parenchyma" EXACT [NCIT:C6767] synonym: "malignant germ cell tumor of the pineal gland" EXACT [NCIT:C6767] synonym: "malignant germ cell tumor of the pineal parenchyma" EXACT [NCIT:C6767] +synonym: "malignant germ cell tumour of pineal gland" EXACT OMO:0003005 [] +synonym: "malignant germ cell tumour of pineal parenchyma" EXACT OMO:0003005 [] +synonym: "malignant germ cell tumour of the pineal gland" EXACT OMO:0003005 [] +synonym: "malignant germ cell tumour of the pineal parenchyma" EXACT OMO:0003005 [] synonym: "malignant pineal area germ cell tumor" EXACT [NCIT:C6767] +synonym: "malignant pineal area germ cell tumour" EXACT OMO:0003005 [] synonym: "malignant pineal gland germ cell neoplasm" EXACT [NCIT:C6767] synonym: "malignant pineal gland germ cell tumor" EXACT [NCIT:C6767] +synonym: "malignant pineal gland germ cell tumour" EXACT OMO:0003005 [] synonym: "malignant pineal parenchymal germ cell neoplasm" EXACT [NCIT:C6767] synonym: "malignant pineal parenchymal germ cell tumor" EXACT [DOID:1660, NCIT:C6767] +synonym: "malignant pineal parenchymal germ cell tumour" EXACT OMO:0003005 [] synonym: "malignant pineal region germ cell neoplasm" EXACT [NCIT:C6767] synonym: "malignant pineal region germ cell tumor" EXACT [NCIT:C6767] +synonym: "malignant pineal region germ cell tumour" EXACT OMO:0003005 [] synonym: "pineal cell tumor" RELATED [GARD:0012017] +synonym: "pineal cell tumour" RELATED OMO:0003005 [] synonym: "pineal germ cell neoplasm, malignant" EXACT [NCIT:C6767] synonym: "pineal germ cell tumor" EXACT [DOID:1660] +synonym: "pineal germ cell tumour" EXACT OMO:0003005 [] synonym: "pineal region germ cell tumor" EXACT [DOID:1660, NCIT:C4659] +synonym: "pineal region germ cell tumour" EXACT OMO:0003005 [] synonym: "pineal region germinoma" RELATED [GARD:0012017] xref: DOID:1660 {source="MONDO:equivalentTo"} xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -30943,13 +31474,18 @@ name: endocrine gland neoplasm def: "A benign or malignant neoplasm arising from the epithelial cells of an endocrine organ. Representative examples include pituitary gland adenoma, pituitary gland carcinoma, thyroid gland carcinoma, carcinoid tumor, and neuroendocrine carcinoma." [NCIT:C3010] synonym: "endocrine gland neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "endocrine gland tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "endocrine gland tumour" EXACT OMO:0003005 [] synonym: "endocrine neoplasm" EXACT [DOID:170, NCIT:C3010] synonym: "endocrine system neoplasm" EXACT [NCIT:C3010] synonym: "endocrine system tumor" EXACT [NCIT:C3010] +synonym: "endocrine system tumour" EXACT OMO:0003005 [] synonym: "endocrine tumor" EXACT [DOID:170, NCIT:C3010] +synonym: "endocrine tumour" EXACT OMO:0003005 [] synonym: "malignant endocrine tumor" NARROW [DOID:170] +synonym: "malignant endocrine tumour" NARROW OMO:0003005 [] synonym: "neoplasm of endocrine gland" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of endocrine gland" EXACT [MONDO:patterns/neoplasm] +synonym: "tumour of endocrine gland" EXACT OMO:0003005 [] xref: EFO:0003769 {source="MONDO:equivalentTo"} xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C3010 {source="MONDO:equivalentTo"} @@ -31085,13 +31621,19 @@ synonym: "eccrine neoplasm of skin" EXACT [NCIT:C6796] synonym: "eccrine neoplasm of the skin" EXACT [NCIT:C6796] synonym: "eccrine skin neoplasm" EXACT [DOID:173, NCIT:C6796] synonym: "eccrine skin tumor" EXACT [NCIT:C6796] +synonym: "eccrine skin tumour" EXACT OMO:0003005 [] synonym: "eccrine sweat gland neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "eccrine sweat gland tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "eccrine sweat gland tumour" EXACT OMO:0003005 [] synonym: "eccrine tumor" EXACT [DOID:173, NCIT:C6796] synonym: "eccrine tumor of skin" EXACT [NCIT:C6796] synonym: "eccrine tumor of the skin" EXACT [NCIT:C6796] +synonym: "eccrine tumour" EXACT OMO:0003005 [] +synonym: "eccrine tumour of skin" EXACT OMO:0003005 [] +synonym: "eccrine tumour of the skin" EXACT OMO:0003005 [] synonym: "neoplasm of eccrine sweat gland" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of eccrine sweat gland" EXACT [MONDO:patterns/neoplasm] +synonym: "tumour of eccrine sweat gland" EXACT OMO:0003005 [] xref: DOID:173 {source="MONDO:equivalentTo"} xref: NCIT:C6796 {source="MONDO:equivalentTo", source="DOID:173"} xref: UMLS:C1333371 {source="MONDO:equivalentTo", source="NCIT:C6796", source="DOID:173"} @@ -31161,17 +31703,28 @@ synonym: "blood vessel tumor (morphologic abnormality)" BROAD [DOID:175] synonym: "blood vessel tumor disorder" BROAD [DOID:175] synonym: "blood vessel tumors" BROAD [DOID:175] synonym: "blood vessel tumors (morphologic abnormality)" BROAD [DOID:175] +synonym: "blood vessel tumour" BROAD OMO:0003005 [] +synonym: "blood vessel tumour (morphologic abnormality)" BROAD OMO:0003005 [] +synonym: "blood vessel tumour disorder" BROAD OMO:0003005 [] +synonym: "blood vessel tumours" BROAD OMO:0003005 [] +synonym: "blood vessel tumours (morphologic abnormality)" BROAD OMO:0003005 [] synonym: "cancer of vasculature" EXACT [MONDO:patterns/cancer] synonym: "Haemangiomatous tumor" BROAD [DOID:175] +synonym: "Haemangiomatous tumour" BROAD OMO:0003005 [] synonym: "leiomyosarcoma of the renal vein" NARROW [DOID:175, NCIT:C5388] synonym: "malignant blood vessel neoplasm" EXACT [NCIT:C8538] synonym: "malignant blood vessel tumor" EXACT [NCIT:C8538] +synonym: "malignant blood vessel tumour" EXACT OMO:0003005 [] synonym: "malignant great vessel tumor" RELATED EXCLUDE [DOID:175] +synonym: "malignant great vessel tumour" RELATED OMO:0003005 [] synonym: "malignant neoplasm of vasculature" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of pulmonary artery" NARROW [DOID:175, NCIT:C5380] synonym: "malignant tumor of pulmonary vein" NARROW [DOID:175, NCIT:C5383] +synonym: "malignant tumour of pulmonary artery" NARROW OMO:0003005 [] +synonym: "malignant tumour of pulmonary vein" NARROW OMO:0003005 [] synonym: "malignant vascular neoplasm" EXACT [DOID:175] synonym: "malignant vascular tumor" EXACT [DOID:175, NCIT:C7390] +synonym: "malignant vascular tumour" EXACT OMO:0003005 [] synonym: "malignant vasculature neoplasm" EXACT [MONDO:patterns/cancer] synonym: "neoplasm of great vessel" BROAD [DOID:175] synonym: "pulmonary artery cancer" EXACT [MONDO:patterns/location] @@ -31180,6 +31733,7 @@ synonym: "pulmonary vein malignant neoplasm" EXACT [DOID:175] synonym: "renal vein leiomyosarcoma" RELATED [DOID:175] synonym: "vascular tissue neoplasm" RELATED [DOID:175] synonym: "vascular tumors" BROAD [DOID:175, NCIT:C7388] +synonym: "vascular tumours" BROAD OMO:0003005 [] synonym: "vasculature cancer" EXACT [] xref: DOID:175 {source="MONDO:equivalentTo"} xref: MESH:D009383 {source="MONDO:equivalentTo"} @@ -31308,6 +31862,7 @@ synonym: "cancer of cardiovascular system" EXACT [MONDO:patterns/cancer] synonym: "cardiovascular neoplasm" BROAD [DOID:176] synonym: "cardiovascular system cancer" EXACT [] synonym: "cardiovascular tumors" EXACT [DOID:176] +synonym: "cardiovascular tumours" EXACT OMO:0003005 [] synonym: "malignant cardiovascular neoplasm" EXACT [NCIT:C114940] synonym: "malignant cardiovascular system neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of cardiovascular system" EXACT [MONDO:patterns/cancer] @@ -31330,6 +31885,8 @@ synonym: "facial nerve neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "facial nerve neoplasms" EXACT [NCIT:C5827] synonym: "facial nerve tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5827] synonym: "facial nerve tumors" EXACT [NCIT:C5827] +synonym: "facial nerve tumour" EXACT OMO:0003005 [] +synonym: "facial nerve tumours" EXACT OMO:0003005 [] synonym: "neoplasm of Facial nerve" EXACT [NCIT:C5827] synonym: "neoplasm of facial nerve" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of seventh cranial nerve" EXACT [NCIT:C5827] @@ -31339,13 +31896,21 @@ synonym: "seventh cranial nerve neoplasm" EXACT [NCIT:C5827] synonym: "seventh cranial nerve neoplasms" EXACT [NCIT:C5827] synonym: "seventh cranial nerve tumor" EXACT [NCIT:C5827] synonym: "seventh cranial nerve tumors" EXACT [NCIT:C5827] +synonym: "seventh cranial nerve tumour" EXACT OMO:0003005 [] +synonym: "seventh cranial nerve tumours" EXACT OMO:0003005 [] synonym: "tumor of Facial nerve" EXACT [DOID:1760, NCIT:C5827] synonym: "tumor of facial nerve" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of seventh cranial nerve" EXACT [NCIT:C5827] synonym: "tumor of the Facial nerve" EXACT [NCIT:C5827] synonym: "tumor of the seventh cranial nerve" EXACT [NCIT:C5827] +synonym: "tumour of Facial nerve" EXACT OMO:0003005 [] +synonym: "tumour of facial nerve" EXACT OMO:0003005 [] +synonym: "tumour of seventh cranial nerve" EXACT OMO:0003005 [] +synonym: "tumour of the Facial nerve" EXACT OMO:0003005 [] +synonym: "tumour of the seventh cranial nerve" EXACT OMO:0003005 [] synonym: "VIIth cranial nerve neoplasms" EXACT [NCIT:C5827] synonym: "VIIth cranial nerve tumors" EXACT [NCIT:C5827] +synonym: "VIIth cranial nerve tumours" EXACT OMO:0003005 [] xref: DOID:1760 {source="MONDO:equivalentTo"} xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C5827 {source="DOID:1760", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -31463,13 +32028,18 @@ synonym: "malignant neoplasm of thyroid" EXACT [NCIT:C7510] synonym: "malignant neoplasm of thyroid gland" EXACT [DOID:1781, ICD9CM:193, MONDO:patterns/cancer, NCIT:C7510] synonym: "malignant thyroid gland neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7510] synonym: "malignant thyroid gland tumor" EXACT [NCIT:C7510] +synonym: "malignant thyroid gland tumour" EXACT OMO:0003005 [] synonym: "malignant thyroid neoplasm" EXACT [NCIT:C7510] synonym: "malignant thyroid tumor" EXACT [NCIT:C7510] +synonym: "malignant thyroid tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of the thyroid" EXACT [NCIT:C7510] synonym: "malignant tumor of the thyroid gland" EXACT [NCIT:C7510] synonym: "malignant tumor of thyroid" EXACT [NCIT:C7510] -synonym: "malignant tumor of thyroid gland" EXACT [DOID:1781] -synonym: "malignant tumor of thyroid gland" EXACT [NCIT:C7510] +synonym: "malignant tumor of thyroid gland" EXACT [DOID:1781, NCIT:C7510] +synonym: "malignant tumour of the thyroid" EXACT OMO:0003005 [] +synonym: "malignant tumour of the thyroid gland" EXACT OMO:0003005 [] +synonym: "malignant tumour of thyroid" EXACT OMO:0003005 [] +synonym: "malignant tumour of thyroid gland" EXACT OMO:0003005 [] synonym: "neoplasm of thyroid gland" BROAD [DOID:1781] synonym: "thyroid gland cancer" EXACT [MONDO:patterns/location] synonym: "thyroid gland neoplasm" BROAD [DOID:1781] @@ -31503,12 +32073,18 @@ synonym: "malignant neoplasm of the pituitary" EXACT [NCIT:C4769] synonym: "malignant neoplasm of the pituitary gland" EXACT [NCIT:C4769] synonym: "malignant pituitary gland neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4769] synonym: "malignant pituitary gland tumor" EXACT [NCIT:C4769] +synonym: "malignant pituitary gland tumour" EXACT OMO:0003005 [] synonym: "malignant pituitary neoplasm" EXACT [DOID:1785, NCIT:C4769] synonym: "malignant pituitary tumor" EXACT [NCIT:C4769] +synonym: "malignant pituitary tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of pituitary" EXACT [NCIT:C4769] synonym: "malignant tumor of pituitary gland" EXACT [NCIT:C4769] synonym: "malignant tumor of the pituitary" EXACT [NCIT:C4769] synonym: "malignant tumor of the pituitary gland" EXACT [NCIT:C4769] +synonym: "malignant tumour of pituitary" EXACT OMO:0003005 [] +synonym: "malignant tumour of pituitary gland" EXACT OMO:0003005 [] +synonym: "malignant tumour of the pituitary" EXACT OMO:0003005 [] +synonym: "malignant tumour of the pituitary gland" EXACT OMO:0003005 [] synonym: "neoplasm of pituitary gland" RELATED EXCLUDE [DOID:1785] synonym: "pituitary cancer" EXACT [] synonym: "pituitary gland cancer" EXACT [DOID:1785] @@ -31561,6 +32137,7 @@ name: benign peritoneal mesothelioma def: "A rare, benign neoplasm that arises from the peritoneum and is characterized by the presence of gland like structures. Cytologic atypia is absent." [NCIT:C7354] synonym: "mesothelioma of peritoneum" BROAD [DOID:1789, NCIT:C7633] synonym: "peritoneal adenomatoid tumor" EXACT [NCIT:C7354] +synonym: "peritoneal adenomatoid tumour" EXACT OMO:0003005 [] synonym: "peritoneum benign mesothelioma" EXACT [MONDO:patterns/location] xref: DOID:1789 {source="MONDO:equivalentTo"} xref: NCIT:C7354 {source="MONDO:equivalentTo"} @@ -31615,12 +32192,17 @@ synonym: "cancer of exocrine pancreas" EXACT [MONDO:patterns/cancer] synonym: "exocrine pancreas cancer" EXACT [MONDO:patterns/location] synonym: "malignant exocrine pancreas neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7430] synonym: "malignant exocrine pancreas tumor" EXACT [NCIT:C7430] +synonym: "malignant exocrine pancreas tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of exocrine pancreas" EXACT [MONDO:patterns/cancer, NCIT:C7430] synonym: "malignant neoplasm of the exocrine pancreas" EXACT [DOID:1795, NCIT:C7430] synonym: "malignant tumor of exocrine pancreas" EXACT [DOID:1795, NCIT:C7430] synonym: "malignant tumor of the exocrine pancreas" EXACT [NCIT:C7430] +synonym: "malignant tumour of exocrine pancreas" EXACT OMO:0003005 [] +synonym: "malignant tumour of the exocrine pancreas" EXACT OMO:0003005 [] synonym: "pancreatic exocrine tumor" BROAD [DOID:1795] +synonym: "pancreatic exocrine tumour" BROAD OMO:0003005 [] synonym: "tumor of exocrine pancreas" RELATED [DOID:1795] +synonym: "tumour of exocrine pancreas" RELATED OMO:0003005 [] xref: DOID:1795 {source="MONDO:equivalentTo"} xref: NCIT:C7430 {source="MONDO:equivalentTo"} xref: SCTID:254604005 {source="DOID:1795"} @@ -31820,6 +32402,7 @@ name: status epilepticus def: "A life-threatening situation in which the brain is in a continuous state of seizure." [NCIT:P378] subset: gard_rare {source="GARD:0010191"} synonym: "GCSE" RELATED ABBREVIATION [GARD:0010191] +synonym: "generalised convulsive status epilepticus" RELATED OMO:0003005 [] synonym: "generalized convulsive status epilepticus" RELATED [GARD:0010191] synonym: "grand mal status" EXACT [DOID:1824] synonym: "SE" RELATED ABBREVIATION [GARD:0010191] @@ -31885,24 +32468,29 @@ synonym: "bone cancer" EXACT [NCIT:C4016] synonym: "bone cancer, NOS" RELATED EXCLUDE [NCIT:C4016] synonym: "bone neoplasm" BROAD [DOID:184] synonym: "bone tumor" BROAD [DOID:184] +synonym: "bone tumour" BROAD OMO:0003005 [] synonym: "CA - bone cancer" EXACT [DOID:184] synonym: "cancer of bone" EXACT [NCIT:C4016] synonym: "cancer of skeletal element" EXACT [MONDO:patterns/cancer] synonym: "cancer of the bone" EXACT [NCIT:C4016] synonym: "malignant bone neoplasm" EXACT [DOID:184, NCIT:C4016] -synonym: "malignant bone tumor" EXACT [NCIT:C4016] -synonym: "malignant bone tumor" EXACT [DOID:184] +synonym: "malignant bone tumor" EXACT [DOID:184, NCIT:C4016] +synonym: "malignant bone tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of bone" EXACT [DOID:184, NCIT:C4016] synonym: "malignant neoplasm of skeletal element" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of the bone" EXACT [NCIT:C4016] synonym: "malignant osseous neoplasm" EXACT [NCIT:C4016] synonym: "malignant osseous tumor" EXACT [DOID:184, NCIT:C4016] +synonym: "malignant osseous tumour" EXACT OMO:0003005 [] synonym: "malignant skeletal element neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of bone" EXACT [NCIT:C4016] synonym: "malignant tumor of the bone" EXACT [NCIT:C4016] +synonym: "malignant tumour of bone" EXACT OMO:0003005 [] +synonym: "malignant tumour of the bone" EXACT OMO:0003005 [] synonym: "neoplasm of bone" BROAD EXCLUDE [DOID:184] synonym: "osseous cancer" EXACT [NCIT:C4016] synonym: "osseous tumor" BROAD [DOID:184, NCIT:C9343] +synonym: "osseous tumour" BROAD OMO:0003005 [] synonym: "skeletal element cancer" EXACT [MONDO:patterns/location] xref: CSP:2019-1041 {source="DOID:184"} xref: DOID:184 {source="MONDO:equivalentTo"} @@ -32156,6 +32744,7 @@ synonym: "fibroxanthosarcoma" EXACT [DOID:1907, NCIT:C4247] synonym: "fibroxanthosarcoma (morphologic abnormality)" EXACT [DOID:1907] synonym: "histiocytoma, fibrous, malignant" EXACT [NCIT:C4247] synonym: "malignant fibrohistiocytic tumors" RELATED [GARD:0006963] +synonym: "malignant fibrohistiocytic tumours" RELATED OMO:0003005 [] synonym: "malignant fibrous cytoma" EXACT [NCIT:C4247] synonym: "malignant fibrous histiocytoma" EXACT [GARD:0006963, NCIT:C4247] synonym: "malignant fibrous histiocytoma of soft tissue and bone" EXACT [NCIT:C4247] @@ -32201,9 +32790,12 @@ name: vaginal yolk sac tumor def: "A rare yolk sac tumor that arises from the vagina. Patients present with abnormal vaginal bleeding or bloody discharge." [NCIT:C6379] synonym: "vaginal endodermal sinus neoplasm" EXACT [DOID:1910, NCIT:C6379] synonym: "vaginal endodermal sinus tumor" EXACT [NCIT:C6379] +synonym: "vaginal endodermal sinus tumour" EXACT OMO:0003005 [] synonym: "vaginal yolk Sac neoplasm" EXACT [DOID:1910, NCIT:C6379] synonym: "vaginal yolk Sac tumor" EXACT [NCIT:C6379] +synonym: "vaginal yolk Sac tumour" EXACT OMO:0003005 [] synonym: "yolk sac tumor" RELATED [ONCOTREE:VYST] +synonym: "yolk sac tumour" RELATED OMO:0003005 [] xref: DOID:1910 {source="MONDO:equivalentTo"} xref: NCIT:C6379 {source="MONDO:equivalentTo", source="DOID:1910", source="MONDO:exact-label-match"} xref: ONCOTREE:VYST {source="MONDO:equivalentTo"} @@ -32313,6 +32905,7 @@ synonym: "malignant reproductive system neoplasm" EXACT [DOID:193, MONDO:pattern synonym: "reproductive organ cancer" EXACT [MONDO:patterns/location] synonym: "reproductive system cancer" EXACT [] synonym: "reproductive tumor" BROAD [DOID:193, NCIT:C3674] +synonym: "reproductive tumour" BROAD OMO:0003005 [] xref: DOID:193 {source="MONDO:equivalentTo"} xref: NCIT:C36076 {source="MONDO:equivalentTo"} xref: NCIT:C3674 {source="DOID:193"} @@ -32465,22 +33058,28 @@ synonym: "cancer of fallopian tubes" EXACT [Orphanet:180242] synonym: "fallopian tube cancer" EXACT [MONDO:patterns/location] synonym: "fallopian tube malignant neoplasm" EXACT [NCIT:C7480] synonym: "fallopian tube malignant tumor" EXACT [NCIT:C7480] +synonym: "fallopian tube malignant tumour" EXACT OMO:0003005 [] synonym: "fallopian tube neoplasm" RELATED EXCLUDE [DOID:1964] synonym: "malignant fallopian tube neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7480] synonym: "malignant fallopian tube tumor" EXACT [NCIT:C7480] +synonym: "malignant fallopian tube tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of fallopian tube" EXACT [MONDO:patterns/cancer, NCIT:C7480] synonym: "malignant neoplasm of the fallopian tube" EXACT [NCIT:C7480] synonym: "malignant neoplasm of uterine tube" EXACT [DOID:1964] synonym: "malignant tubal tumor" EXACT [Orphanet:180242] -synonym: "malignant tumor of fallopian tube" EXACT [DOID:1964] -synonym: "malignant tumor of fallopian tube" EXACT [NCIT:C7480] +synonym: "malignant tubal tumour" EXACT OMO:0003005 [] +synonym: "malignant tumor of fallopian tube" EXACT [DOID:1964, NCIT:C7480] synonym: "malignant tumor of fallopian tubes" EXACT [MONDO:0015866] synonym: "malignant tumor of the fallopian tube" EXACT [NCIT:C7480] +synonym: "malignant tumour of fallopian tube" EXACT OMO:0003005 [] +synonym: "malignant tumour of fallopian tubes" EXACT OMO:0003005 [] +synonym: "malignant tumour of the fallopian tube" EXACT OMO:0003005 [] synonym: "neoplasm of fallopian tube" BROAD EXCLUDE [DOID:1964] synonym: "neoplasm, fallopian tube, malignant" EXACT [NCIT:C7480] synonym: "tubal cancer" EXACT [Orphanet:180242] synonym: "tumor of the fallopian tube" BROAD [DOID:1964, NCIT:C3032] synonym: "tumor, fallopian tube, malignant" EXACT [DOID:1964, NCIT:C7480] +synonym: "tumour of the fallopian tube" BROAD OMO:0003005 [] xref: DOID:1964 {source="MONDO:equivalentTo"} xref: ICD10CM:C57.0 {source="DOID:1964", source="Orphanet:180242", source="Orphanet:180242/e"} xref: ICD9:183.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1964"} @@ -32586,11 +33185,15 @@ synonym: "neoplasm of rectum" EXACT [MONDO:patterns/neoplasm, NCIT:C3350] synonym: "neoplasm of the rectum" EXACT [NCIT:C3350] synonym: "rectal neoplasm" EXACT [NCIT:C3350] synonym: "rectal tumor" EXACT [DOID:1984, NCIT:C3350] +synonym: "rectal tumour" EXACT OMO:0003005 [] synonym: "rectum neoplasm" EXACT [DOID:1984] synonym: "rectum neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "rectum tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "rectum tumour" EXACT OMO:0003005 [] synonym: "tumor of rectum" EXACT [MONDO:patterns/neoplasm, NCIT:C3350] synonym: "tumor of the rectum" EXACT [NCIT:C3350] +synonym: "tumour of rectum" EXACT OMO:0003005 [] +synonym: "tumour of the rectum" EXACT OMO:0003005 [] xref: DOID:1984 {source="MONDO:equivalentTo"} xref: MESH:D012004 {source="DOID:1984", source="MONDO:equivalentTo"} xref: NCIT:C3350 {source="DOID:1984", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -32709,7 +33312,13 @@ synonym: "giant cell tumor (qualifier value)" EXACT [DOID:200] synonym: "giant cell tumor NOS (morphologic abnormality)" EXACT [DOID:200] synonym: "giant cell tumors" RELATED [DOID:200] synonym: "giant cell tumors (morphologic abnormality)" EXACT [DOID:200] +synonym: "giant cell tumour (morphologic abnormality)" EXACT OMO:0003005 [] +synonym: "giant cell tumour (qualifier value)" EXACT OMO:0003005 [] +synonym: "giant cell tumour NOS (morphologic abnormality)" EXACT OMO:0003005 [] +synonym: "giant cell tumours" RELATED OMO:0003005 [] +synonym: "giant cell tumours (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "tumor of the giant cell" EXACT [DOID:200, NCIT:C3055] +synonym: "tumour of the giant cell" EXACT OMO:0003005 [] xref: DOID:200 {source="MONDO:equivalentTo"} xref: MESH:D005870 {source="MONDO:equivalentTo", source="DOID:200"} xref: NCIT:C3055 {source="MONDO:equivalentTo", source="DOID:200"} @@ -32857,14 +33466,19 @@ synonym: "malignant neoplasm of placenta" EXACT [DOID:2021, ICD9CM:181, MONDO:pa synonym: "malignant neoplasm of the placenta" EXACT [NCIT:C3555] synonym: "malignant placenta neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant placenta tumor" EXACT [NCIT:C3555] +synonym: "malignant placenta tumour" EXACT OMO:0003005 [] synonym: "malignant placental neoplasm" EXACT [NCIT:C3555] synonym: "malignant placental tumor" EXACT [DOID:2021, NCIT:C3555] +synonym: "malignant placental tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of placenta" EXACT [NCIT:C3555] synonym: "malignant tumor of the placenta" EXACT [NCIT:C3555] +synonym: "malignant tumour of placenta" EXACT OMO:0003005 [] +synonym: "malignant tumour of the placenta" EXACT OMO:0003005 [] synonym: "neoplasm of placenta" RELATED EXCLUDE [DOID:2021] synonym: "placenta cancer" EXACT [MONDO:patterns/location] synonym: "placental cancer" EXACT [DOID:2021] synonym: "placental tumors" BROAD [DOID:2021, NCIT:C4858] +synonym: "placental tumours" BROAD OMO:0003005 [] synonym: "primary malignant neoplasm of placenta" EXACT [DOID:2021] xref: DOID:2021 {source="MONDO:equivalentTo"} xref: ICD10CM:C58 {source="DOID:2021"} @@ -33116,6 +33730,7 @@ def: "A benign neoplasm that affects the Bartholin gland. Representative example synonym: "Bartholin gland neoplasm" BROAD [DOID:2068] synonym: "major vestibular gland benign neoplasm" EXACT [MONDO:patterns/location] synonym: "tumor of Bartholin's gland" BROAD [DOID:2068, NCIT:C6434] +synonym: "tumour of Bartholin's gland" BROAD OMO:0003005 [] xref: DOID:2068 {source="MONDO:equivalentTo"} xref: NCIT:C6434 {source="DOID:2068", source="MONDO:relatedTo"} xref: SCTID:189130001 {source="MONDO:equivalentTo"} @@ -33147,6 +33762,7 @@ def: "A benign, precancerous, or malignant neoplasm that arises from the squamou synonym: "mammalian vulva squamous cell neoplasm" EXACT [MONDO:patterns/location] synonym: "vulvar squamous neoplasm" EXACT [NCIT:C40283] synonym: "vulvar squamous tumor" EXACT [NCIT:C40283] +synonym: "vulvar squamous tumour" EXACT OMO:0003005 [] xref: DOID:2072 {source="MONDO:equivalentTo"} xref: NCIT:C40283 {source="MONDO:equivalentTo", source="DOID:2072"} xref: UMLS:C1520097 {source="MONDO:equivalentTo", source="NCIT:C40283", source="DOID:2072"} @@ -33190,6 +33806,7 @@ def: "A benign or malignant neoplasm that arises from the vulva and is composed synonym: "mammalian vulva glandular cell neoplasm" EXACT [MONDO:patterns/location] synonym: "vulvar glandular neoplasm" EXACT [NCIT:C40292] synonym: "vulvar glandular tumor" EXACT [NCIT:C40292] +synonym: "vulvar glandular tumour" EXACT OMO:0003005 [] xref: DOID:2076 {source="MONDO:equivalentTo"} xref: NCIT:C40292 {source="DOID:2076", source="MONDO:equivalentTo"} xref: UMLS:C1520082 {source="DOID:2076", source="NCIT:C40292", source="MONDO:equivalentTo"} @@ -33218,12 +33835,19 @@ synonym: "benign mixed tumor of skin" EXACT [NCIT:C4474] synonym: "benign mixed tumor of skin (chondroid syringoma)" EXACT [NCIT:C4474] synonym: "benign mixed tumor of the skin" EXACT [NCIT:C4474] synonym: "benign mixed tumor of the skin (chondroid syringoma)" EXACT [NCIT:C4474] +synonym: "benign mixed tumour of skin" EXACT OMO:0003005 [] +synonym: "benign mixed tumour of skin (chondroid syringoma)" EXACT OMO:0003005 [] +synonym: "benign mixed tumour of the skin" EXACT OMO:0003005 [] +synonym: "benign mixed tumour of the skin (chondroid syringoma)" EXACT OMO:0003005 [] synonym: "chondroid syringoma" EXACT [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1860616/table/tbl2/, NCIT:C4474] synonym: "eccrine mixed tumor" EXACT [DOID:2079] synonym: "eccrine mixed tumor (morphologic abnormality)" EXACT [DOID:2079] +synonym: "eccrine mixed tumour" EXACT OMO:0003005 [] +synonym: "eccrine mixed tumour (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "eccrine sweat gland mixed neoplasm" EXACT [MONDO:patterns/location] synonym: "mixed eccrine neoplasm of the skin" EXACT [DOID:2079, NCIT:C4474] synonym: "mixed tumor of the skin (chondroid syringoma)" EXACT [NCIT:C4474] +synonym: "mixed tumour of the skin (chondroid syringoma)" EXACT OMO:0003005 [] xref: DOID:2079 {source="MONDO:equivalentTo"} xref: EFO:1000385 {source="MONDO:equivalentTo"} xref: NCIT:C4474 {source="DOID:2079", source="EFO:1000385", source="MONDO:equivalentTo"} @@ -33340,6 +33964,8 @@ synonym: "malignant neoplasm of the sweat gland" EXACT [NCIT:C4810] synonym: "malignant sweat gland neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4810] synonym: "malignant tumor of sweat gland" EXACT [NCIT:C4810] synonym: "malignant tumor of the sweat gland" EXACT [DOID:2095, NCIT:C4810] +synonym: "malignant tumour of sweat gland" EXACT OMO:0003005 [] +synonym: "malignant tumour of the sweat gland" EXACT OMO:0003005 [] synonym: "sweat gland cancer" EXACT [MONDO:patterns/location] synonym: "sweat gland neoplasms, malignant" EXACT [NCIT:C4810] xref: DOID:2095 {source="MONDO:equivalentTo"} @@ -33520,6 +34146,7 @@ synonym: "neoplasm of temporal lobe" RELATED EXCLUDE [DOID:2135] synonym: "temporal lobe cancer" EXACT [MONDO:patterns/location] synonym: "temporal lobe neoplasm" RELATED [DOID:2135] synonym: "tumor of temporal lobe" RELATED EXCLUDE [DOID:2135] +synonym: "tumour of temporal lobe" RELATED OMO:0003005 [] xref: DOID:2135 {source="MONDO:equivalentTo", source="MONDO:placement-based-on-DOID-graph"} xref: ICD10CM:C71.2 {source="DOID:2135", source="MONDO:equivalentTo"} xref: ICD9:191.2 {source="DOID:2135", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -33543,8 +34170,11 @@ synonym: "neoplasm of paraurethral gland" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of paraurethral glands" EXACT [DOID:2139] synonym: "paraurethral gland neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "paraurethral gland tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "paraurethral gland tumour" EXACT OMO:0003005 [] synonym: "tumor of paraurethral gland" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of the paraurethral gland" EXACT [DOID:2139, NCIT:C4378] +synonym: "tumour of paraurethral gland" EXACT OMO:0003005 [] +synonym: "tumour of the paraurethral gland" EXACT OMO:0003005 [] xref: DOID:2139 {source="MONDO:equivalentTo"} xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:126884005 {source="MONDO:equivalentTo", source="DOID:2139"} @@ -33695,8 +34325,11 @@ synonym: "epithelial neoplasm of ovary" EXACT [NCIT:C4381] synonym: "epithelial neoplasm of the ovary" EXACT [NCIT:C4381] synonym: "epithelial tumor of ovary" EXACT [DOID:2152, NCIT:C4381] synonym: "epithelial tumor of the ovary" EXACT [NCIT:C4381] +synonym: "epithelial tumour of ovary" EXACT OMO:0003005 [] +synonym: "epithelial tumour of the ovary" EXACT OMO:0003005 [] synonym: "ovarian epithelial tumor" EXACT [NCIT:C4381] synonym: "ovarian surface epithelial-stromal tumor" EXACT [DOID:2152, NCIT:C4381] +synonym: "ovarian surface epithelial-stromal tumour" EXACT OMO:0003005 [] synonym: "ovarian surface-epithelial stromal neoplasm" EXACT [NCIT:C4381] synonym: "ovary epithelial cancer" RELATED [DOID:2152] synonym: "ovary epithelial neoplasm" EXACT [MONDO:patterns/location] @@ -33720,7 +34353,9 @@ def: "An embryonal neoplasm arising from the ovary with morphologic features res synonym: "ovarian Wilms tumor" EXACT [NCIT:C40443] synonym: "ovarian Wilms' cancer" RELATED [DOID:2153] synonym: "ovarian Wilms' tumor" EXACT [DOID:2153, NCIT:C40443] +synonym: "ovarian Wilms' tumour" EXACT OMO:0003005 [] synonym: "ovary Wilms tumor" EXACT [MONDO:patterns/location] +synonym: "ovary Wilms tumour" EXACT OMO:0003005 [] xref: DOID:2153 {source="MONDO:equivalentTo"} xref: NCIT:C40443 {source="DOID:2153", source="MONDO:equivalentTo"} xref: UMLS:C1518746 {source="DOID:2153", source="MONDO:equivalentTo", source="NCIT:C40443"} @@ -33816,11 +34451,15 @@ subset: ordo_group_of_disorders {source="Orphanet:98580"} synonym: "eyelid neoplasm" EXACT [NCIT:C3031] synonym: "eyelid neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "eyelid tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3031] +synonym: "eyelid tumour" EXACT OMO:0003005 [] synonym: "neoplasm of eyelid" EXACT [MONDO:patterns/neoplasm, NCIT:C3031] synonym: "neoplasm of the eyelid" EXACT [NCIT:C3031] synonym: "palpebral tumor" EXACT [MONDO:0020171] +synonym: "palpebral tumour" EXACT OMO:0003005 [] synonym: "tumor of eyelid" EXACT [MONDO:patterns/neoplasm, NCIT:C3031] synonym: "tumor of the eyelid" EXACT [DOID:2173, NCIT:C3031] +synonym: "tumour of eyelid" EXACT OMO:0003005 [] +synonym: "tumour of the eyelid" EXACT OMO:0003005 [] xref: DOID:2173 {source="MONDO:equivalentTo"} xref: EFO:1000934 {source="MONDO:equivalentTo"} xref: MESH:D005142 {source="MONDO:equivalentTo", source="DOID:2173"} @@ -33851,17 +34490,22 @@ synonym: "eyeball of camera-type eye cancer" EXACT [] synonym: "malignant eye cancer, NOS" RELATED EXCLUDE [NCIT:C4767] synonym: "malignant eye neoplasm" EXACT [DOID:2174, MONDO:patterns/cancer, NCIT:C4767] synonym: "malignant eye tumor" EXACT [NCIT:C4767] +synonym: "malignant eye tumour" EXACT OMO:0003005 [] synonym: "malignant eyeball of camera-type eye neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of eye" EXACT [MONDO:patterns/cancer, NCIT:C4767] synonym: "malignant neoplasm of eyeball of camera-type eye" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of the eye" EXACT [NCIT:C4767] synonym: "malignant ocular neoplasm" EXACT [NCIT:C4767] synonym: "malignant ocular tumor" EXACT [NCIT:C4767] +synonym: "malignant ocular tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of eye" EXACT [NCIT:C4767] synonym: "malignant tumor of the eye" EXACT [NCIT:C4767] +synonym: "malignant tumour of eye" EXACT OMO:0003005 [] +synonym: "malignant tumour of the eye" EXACT OMO:0003005 [] synonym: "neoplasm of eye" BROAD [DOID:2174] synonym: "neoplasm of eye proper" RELATED [DOID:2174] synonym: "ocular tumor" BROAD [DOID:2174, NCIT:C3030] +synonym: "ocular tumour" BROAD OMO:0003005 [] xref: DOID:2174 {source="MONDO:equivalentTo"} xref: ICD9:190.8 {source="DOID:2174"} xref: ICD9:239.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -33915,6 +34559,7 @@ synonym: "malignant ascending colon neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of ascending colon" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of right colon" EXACT [DOID:218] synonym: "malignant tumor of ascending colon" EXACT [DOID:218] +synonym: "malignant tumour of ascending colon" EXACT OMO:0003005 [] xref: DOID:218 {source="MONDO:equivalentTo"} xref: ICD10CM:C18.2 {source="DOID:218"} xref: ICD9:153.6 {source="DOID:218", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -34409,6 +35054,7 @@ synonym: "female reproductive disease" EXACT [DOID:229] synonym: "female reproductive system disease" EXACT [MONDO:patterns/location, NCIT:C27020] synonym: "female reproductive system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "female reproductive system disorder" EXACT [NCIT:C27020] +synonym: "gynaecological disease" RELATED OMO:0003005 [] synonym: "gynecological disease" RELATED [] xref: DOID:229 {source="MONDO:equivalentTo"} xref: ICD10CM:N80-N98 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} @@ -34625,6 +35271,7 @@ is_a: MONDO:0004960 ! monoclonal gammopathy id: MONDO:0002275 name: generalized atherosclerosis def: "Atherosclerosis that is not localized." [NCIT:P378] +synonym: "generalised and unspecified atherosclerosis" EXACT OMO:0003005 [] synonym: "generalized and unspecified atherosclerosis" EXACT [DOID:2347, ICD9CM:440.9] synonym: "generalized atherosclerosis" EXACT [DOID:2347] xref: DOID:2347 {source="MONDO:equivalentTo"} @@ -34694,17 +35341,22 @@ alt_id: MONDO:0021466 def: "A non-metastasizing neoplasm arising from the wall of the colon." [NCIT:C2894] synonym: "benign colon neoplasm" EXACT [NCIT:C2894] synonym: "benign colon tumor" EXACT [NCIT:C2894] +synonym: "benign colon tumour" EXACT OMO:0003005 [] synonym: "benign colonic neoplasm" EXACT [NCIT:C2894] synonym: "benign colonic tumor" EXACT [NCIT:C2894] +synonym: "benign colonic tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of colon" EXACT [NCIT:C2894] synonym: "benign neoplasm of the colon" EXACT [NCIT:C2894] synonym: "benign tumor of colon" EXACT [NCIT:C2894] synonym: "benign tumor of the colon" EXACT [NCIT:C2894] +synonym: "benign tumour of colon" EXACT OMO:0003005 [] +synonym: "benign tumour of the colon" EXACT OMO:0003005 [] synonym: "colon benign neoplasm" EXACT [MONDO:patterns/location] synonym: "colon neoplasm" BROAD [DOID:235] synonym: "colonic benign neoplasm" RELATED [DOID:235] synonym: "colonic Mass" EXACT [DOID:235, NCIT:C37904] synonym: "colonic tumor" BROAD [DOID:235, NCIT:C2953] +synonym: "colonic tumour" BROAD OMO:0003005 [] synonym: "neoplasm of colon" RELATED EXCLUDE [DOID:235] xref: DOID:235 {source="MONDO:equivalentTo"} xref: ICD9:211.3 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -34749,8 +35401,8 @@ is_a: MONDO:0005066 {source="DOID:2351/inferred", source="ICD10CM:E83.1/inferred id: MONDO:0002280 name: anemia def: "A reduction in the number of red blood cells, the amount of hemoglobin, and/or the volume of packed red blood cells. Clinically, anemia represents a reduction in the oxygen-transporting capacity of a designated volume of blood, resulting from an imbalance between blood loss (through hemorrhage or hemolysis) and blood production. Signs and symptoms of anemia may include pallor of the skin and mucous membranes, shortness of breath, palpitations of the heart, soft systolic murmurs, lethargy, and fatigability." [NCIT:C2869] -synonym: "anemia" EXACT [MONDO:ambiguous, NCIT:C2869] -synonym: "anemia" EXACT [DOID:2355] +synonym: "anaemia (disease)" EXACT OMO:0003005 [] +synonym: "anemia" EXACT [DOID:2355, MONDO:ambiguous, NCIT:C2869] synonym: "anemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:2355 {source="MONDO:equivalentTo"} xref: EFO:0004272 {source="DOID:2355", source="MONDO:equivalentTo"} @@ -34776,11 +35428,14 @@ property_value: IAO:0000589 "anemia (disease)" xsd:string id: MONDO:0002281 name: macrocytic anemia def: "Anemia that is characterized by increased red blood cell volume." [NCIT:P378] +synonym: "anaemia macrocytic" EXACT OMO:0003005 [] synonym: "anemia macrocytic" EXACT [DOID:2361, MTH:NOCODE] synonym: "D22S676" EXACT ABBREVIATION [Orphanet:119999] synonym: "D22S750" EXACT ABBREVIATION [Orphanet:119999] +synonym: "macrocytic Anaemia" EXACT OMO:0003005 [] +synonym: "macrocytic anaemia (disease)" EXACT OMO:0003005 [] +synonym: "macrocytic anaemia of unspecified cause" EXACT OMO:0003005 [] synonym: "macrocytic Anemia" EXACT [DOID:2361, NCIT:C34381] -synonym: "macrocytic anemia" EXACT [DOID:2361] synonym: "macrocytic anemia" EXACT [DOID:2361, MONDO:ambiguous] synonym: "macrocytic anemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "macrocytic anemia of unspecified cause" EXACT [DOID:2361] @@ -34924,12 +35579,16 @@ synonym: "clitoral cancer" RELATED EXCLUDE [DOID:2401] synonym: "clitoris cancer" EXACT [MONDO:patterns/location] synonym: "malignant clitoral neoplasm" EXACT [NCIT:C3557] synonym: "malignant clitoral tumor" EXACT [NCIT:C3557] +synonym: "malignant clitoral tumour" EXACT OMO:0003005 [] synonym: "malignant clitoris neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3557] synonym: "malignant clitoris tumor" EXACT [NCIT:C3557] +synonym: "malignant clitoris tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of clitoris" EXACT [MONDO:patterns/cancer, NCIT:C3557] synonym: "malignant neoplasm of the clitoris" EXACT [NCIT:C3557] synonym: "malignant tumor of clitoris" EXACT [DOID:2401, NCIT:C3557] synonym: "malignant tumor of the clitoris" EXACT [NCIT:C3557] +synonym: "malignant tumour of clitoris" EXACT OMO:0003005 [] +synonym: "malignant tumour of the clitoris" EXACT OMO:0003005 [] xref: DOID:2401 {source="MONDO:equivalentTo"} xref: ICD10CM:C51.2 {source="DOID:2401"} xref: ICD9:184.3 {source="MONDO:equivalentTo", source="DOID:2401", source="MONDO:i2s"} @@ -34955,12 +35614,18 @@ synonym: "cutaneous granular cell tumor" EXACT [NCIT:C5617] synonym: "granular cell neoplasm of skin" EXACT [NCIT:C5617] synonym: "granular cell neoplasm of the skin" EXACT [DOID:2410, NCIT:C5617] synonym: "granular cell skin tumor" EXACT [NCIT:C5617] +synonym: "granular cell skin tumour" EXACT OMO:0003005 [] synonym: "granular cell tumor of skin" EXACT [NCIT:C5617] synonym: "granular cell tumor of the skin" EXACT [NCIT:C5617] synonym: "granular cell tumor of zone of skin" EXACT [MONDO:design_pattern] +synonym: "granular cell tumour of skin" EXACT OMO:0003005 [] +synonym: "granular cell tumour of the skin" EXACT OMO:0003005 [] +synonym: "granular cell tumour of zone of skin" EXACT OMO:0003005 [] synonym: "skin granular cell neoplasm" EXACT [NCIT:C5617] synonym: "skin granular cell tumor" RELATED [DOID:2410] +synonym: "skin granular cell tumour" RELATED OMO:0003005 [] synonym: "zone of skin granular cell tumor" EXACT [MONDO:patterns/location] +synonym: "zone of skin granular cell tumour" EXACT OMO:0003005 [] xref: DOID:2410 {source="MONDO:equivalentTo"} xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C5617 {source="DOID:2410", source="MONDO:equivalentTo"} @@ -35006,10 +35671,14 @@ synonym: "glomus neoplasm of skin" EXACT [NCIT:C4491] synonym: "glomus neoplasm of the skin" EXACT [NCIT:C4491] synonym: "glomus skin neoplasm" EXACT [DOID:2430, NCIT:C4491] synonym: "glomus skin tumor" EXACT [NCIT:C4491] +synonym: "glomus skin tumour" EXACT OMO:0003005 [] synonym: "glomus tumor of skin" EXACT [NCIT:C4491] synonym: "glomus tumor of the skin" EXACT [NCIT:C4491] +synonym: "glomus tumour of skin" EXACT OMO:0003005 [] +synonym: "glomus tumour of the skin" EXACT OMO:0003005 [] synonym: "skin glomus neoplasm" EXACT [NCIT:C4491] synonym: "zone of skin glomus tumor" EXACT [MONDO:patterns/location] +synonym: "zone of skin glomus tumour" EXACT OMO:0003005 [] xref: DOID:2430 {source="MONDO:equivalentTo"} xref: NCIT:C4491 {source="DOID:2430", source="MONDO:equivalentTo"} xref: SCTID:254795008 {source="DOID:2430", source="MONDO:equivalentTo"} @@ -35034,24 +35703,32 @@ synonym: "adnexal neoplasm of skin" EXACT [NCIT:C4463] synonym: "adnexal neoplasm of the skin" EXACT [NCIT:C4463] synonym: "adnexal tumor of skin" EXACT [NCIT:C4463] synonym: "adnexal tumor of the skin" EXACT [NCIT:C4463] +synonym: "adnexal tumour of skin" EXACT OMO:0003005 [] +synonym: "adnexal tumour of the skin" EXACT OMO:0003005 [] synonym: "cutaneous adnexal neoplasm" EXACT [NCIT:C4463] synonym: "cutaneous appendage neoplasm" EXACT [] synonym: "cutaneous appendage neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "cutaneous appendage tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "cutaneous appendage tumour" EXACT OMO:0003005 [] synonym: "Epidermal appendage neoplasm" EXACT [NCIT:C4463] synonym: "Epidermal appendage tumor" EXACT [NCIT:C4463] +synonym: "Epidermal appendage tumour" EXACT OMO:0003005 [] synonym: "neoplasm of cutaneous appendage" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of Epidermal appendage" EXACT [NCIT:C4463] synonym: "neoplasm of skin appendage" EXACT [NCIT:C4463] synonym: "neoplasm of skin with adnexal differentiation" EXACT [DOID:2433] synonym: "neoplasm of the skin appendage" EXACT [DOID:2433, NCIT:C4463] synonym: "skin appendage neoplasm" EXACT [NCIT:C4463] -synonym: "skin appendage tumor" EXACT [DOID:2433] -synonym: "skin appendage tumor" EXACT [NCIT:C4463] +synonym: "skin appendage tumor" EXACT [DOID:2433, NCIT:C4463] +synonym: "skin appendage tumour" EXACT OMO:0003005 [] synonym: "tumor of cutaneous appendage" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of Epidermal appendage" EXACT [NCIT:C4463] synonym: "tumor of skin appendage" EXACT [NCIT:C4463] synonym: "tumor of the skin appendage" EXACT [NCIT:C4463] +synonym: "tumour of cutaneous appendage" EXACT OMO:0003005 [] +synonym: "tumour of Epidermal appendage" EXACT OMO:0003005 [] +synonym: "tumour of skin appendage" EXACT OMO:0003005 [] +synonym: "tumour of the skin appendage" EXACT OMO:0003005 [] xref: DOID:2433 {source="MONDO:equivalentTo"} xref: ICD9:239.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C4463 {source="DOID:2433", source="MONDO:equivalentTo"} @@ -35100,6 +35777,7 @@ name: dermis tumor def: "A benign, intermediate, or malignant neoplasm that arises from the dermis." [NCIT:P378] synonym: "dermal neoplasm" EXACT [NCIT:C4475] synonym: "dermal tumor" EXACT [NCIT:C4475] +synonym: "dermal tumour" EXACT OMO:0003005 [] synonym: "dermis neoplasm" EXACT [] synonym: "dermis neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "dermis tumor" EXACT [MONDO:patterns/neoplasm] @@ -35107,6 +35785,8 @@ synonym: "neoplasm of dermis" EXACT [DOID:2438, MONDO:patterns/neoplasm, NCIT:C4 synonym: "neoplasm of the dermis" EXACT [NCIT:C4475] synonym: "tumor of dermis" EXACT [DOID:2438, MONDO:patterns/neoplasm, NCIT:C4475] synonym: "tumor of the dermis" EXACT [NCIT:C4475] +synonym: "tumour of dermis" EXACT OMO:0003005 [] +synonym: "tumour of the dermis" EXACT OMO:0003005 [] xref: DOID:2438 {source="MONDO:equivalentTo"} xref: NCIT:C4475 {source="MONDO:equivalentTo", source="DOID:2438"} xref: SCTID:254735005 {source="DOID:2438"} @@ -35403,6 +36083,7 @@ synonym: "trachea neoplasm" BROAD [DOID:248] synonym: "tracheal leiomyoma" EXACT [NCIT:C6049] synonym: "tracheal neoplasm" BROAD [DOID:248] synonym: "tracheal tumor" BROAD [DOID:248, NCIT:C3419] +synonym: "tracheal tumour" BROAD OMO:0003005 [] xref: DOID:248 {source="MONDO:equivalentTo"} xref: MESH:D014134 {source="DOID:248"} xref: NCIT:C3419 {source="DOID:248"} @@ -35486,6 +36167,7 @@ intersection_of: disease_has_location UBERON:0001027 ! sensory nerve id: MONDO:0002322 name: angiodysplasia def: "Acquired degenerative dilation or expansion (ectasia) of normal blood vessels, often associated with aging. They are isolated, tortuous, thin-walled vessels and sources of bleeding. They occur most often in mucosal capillaries of the gastrointestinal tract leading to gastrointestinal hemorrhage and anemia." [MESH:D016888] +synonym: "angiodysplasia of stomach and duodenum with haemorrhage" NARROW OMO:0003005 [] synonym: "angiodysplasia of stomach and duodenum with hemorrhage" NARROW [DOID:2494] xref: DOID:2494 {source="MONDO:equivalentTo"} xref: ICD9:537.83 {source="DOID:2494"} @@ -35528,7 +36210,9 @@ is_obsolete: true id: MONDO:0002325 name: tooth erosion, non-bacterial def: "Progressive loss of tooth tissue by chemical processes that do not involve bacterial action. (Jablonski, Dictionary of Dentistry, 1992, p296)" [MESH:D014077-modified] +synonym: "generalised erosion" RELATED OMO:0003005 [] synonym: "generalized erosion" RELATED [DOID:2498] +synonym: "localised erosion" RELATED OMO:0003005 [] synonym: "localized erosion" RELATED [DOID:2498] synonym: "tooth erosion" EXACT [DOID:2498] xref: DOID:2498 {source="MONDO:equivalentTo"} @@ -35713,6 +36397,15 @@ def: "Neoplasms of the hematopoietic system, including hematopoietic cell neopla synonym: "blood cancer" NARROW [DOID:2531] synonym: "blood neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "blood tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "blood tumour" EXACT OMO:0003005 [] +synonym: "haematological tumours" EXACT OMO:0003005 [] +synonym: "haematopoietic and lymphoid system tumour" EXACT OMO:0003005 [] +synonym: "haematopoietic cancer" NARROW OMO:0003005 [] +synonym: "haematopoietic neoplasm" BROAD OMO:0003005 [] +synonym: "haematopoietic neoplasm (morphologic abnormality)" BROAD OMO:0003005 [] +synonym: "haematopoietic system neoplasm" EXACT OMO:0003005 [] +synonym: "haematopoietic system tumour" EXACT OMO:0003005 [] +synonym: "haematopoietic tumours" EXACT OMO:0003005 [] synonym: "hematologic cancer" RELATED [DOID:2531] synonym: "hematologic malignancy" NARROW [DOID:2531] synonym: "hematologic neoplasm" BROAD [DOID:2531] @@ -35725,12 +36418,17 @@ synonym: "hematopoietic neoplasm (morphologic abnormality)" BROAD [DOID:2531] synonym: "hematopoietic system neoplasm" EXACT [] synonym: "hematopoietic system tumor" EXACT [MONDO:patterns/neoplasm] synonym: "hematopoietic tumors" EXACT [DOID:2531, NCIT:C27134] +synonym: "malignant haematopoietic neoplasm" RELATED OMO:0003005 [] +synonym: "malignant haematopoietic neoplasm (morphologic abnormality)" NARROW OMO:0003005 [] synonym: "malignant hematopoietic neoplasm" RELATED EXCLUDE [DOID:2531] synonym: "malignant hematopoietic neoplasm (morphologic abnormality)" NARROW [DOID:2531] synonym: "neoplasm of blood" EXACT [MONDO:patterns/neoplasm] +synonym: "neoplasm of haematopoietic system" EXACT OMO:0003005 [] synonym: "neoplasm of hematopoietic system" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of blood" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of hematopoietic system" EXACT [MONDO:patterns/neoplasm] +synonym: "tumour of blood" EXACT OMO:0003005 [] +synonym: "tumour of haematopoietic system" EXACT OMO:0003005 [] xref: DOID:2531 {source="MONDO:equivalentTo"} xref: MESH:D019337 {source="DOID:2531", source="MONDO:equivalentTo"} xref: NCIT:C27134 {source="DOID:2531"} @@ -35972,10 +36670,13 @@ synonym: "cancer of glottis" EXACT [MONDO:patterns/cancer] synonym: "glottis cancer" EXACT [MONDO:patterns/location] synonym: "malignant glottis neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3544] synonym: "malignant glottis tumor" EXACT [NCIT:C3544] +synonym: "malignant glottis tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of glottis" EXACT [MONDO:patterns/cancer, NCIT:C3544] synonym: "malignant neoplasm of the glottis" EXACT [NCIT:C3544] synonym: "malignant tumor of glottis" EXACT [NCIT:C3544] synonym: "malignant tumor of the glottis" EXACT [DOID:2595, NCIT:C3544] +synonym: "malignant tumour of glottis" EXACT OMO:0003005 [] +synonym: "malignant tumour of the glottis" EXACT OMO:0003005 [] xref: DOID:2595 {source="MONDO:equivalentTo"} xref: ICD10CM:C32.0 {source="DOID:2595"} xref: ICD9:161.0 {source="DOID:2595", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -35997,12 +36698,16 @@ synonym: "cancer of larynx" EXACT [MONDO:patterns/cancer] synonym: "larynx cancer" EXACT [MONDO:patterns/location] synonym: "malignant laryngeal neoplasm" EXACT [NCIT:C7484] synonym: "malignant laryngeal tumor" EXACT [NCIT:C7484] +synonym: "malignant laryngeal tumour" EXACT OMO:0003005 [] synonym: "malignant larynx neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7484] synonym: "malignant larynx tumor" EXACT [NCIT:C7484] +synonym: "malignant larynx tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of larynx" EXACT [MONDO:patterns/cancer, NCIT:C7484] synonym: "malignant neoplasm of the larynx" EXACT [NCIT:C7484] synonym: "malignant tumor of larynx" EXACT [NCIT:C7484] synonym: "malignant tumor of the larynx" EXACT [NCIT:C7484] +synonym: "malignant tumour of larynx" EXACT OMO:0003005 [] +synonym: "malignant tumour of the larynx" EXACT OMO:0003005 [] xref: DOID:2596 {source="MONDO:equivalentTo"} xref: EFO:1000354 {source="MONDO:equivalentTo"} xref: ICD10CM:C32 {source="DOID:2596"} @@ -36030,10 +36735,13 @@ def: "A benign or malignant neoplasm that affects the glottic area of the larynx synonym: "glottis neoplasm" EXACT [NCIT:C4425] synonym: "glottis neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "glottis tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4425] +synonym: "glottis tumour" EXACT OMO:0003005 [] synonym: "neoplasm of glottis" EXACT [MONDO:patterns/neoplasm, NCIT:C4425] synonym: "neoplasm of the glottis" EXACT [NCIT:C4425] synonym: "tumor of glottis" EXACT [MONDO:patterns/neoplasm, NCIT:C4425] synonym: "tumor of the glottis" EXACT [DOID:2597, NCIT:C4425] +synonym: "tumour of glottis" EXACT OMO:0003005 [] +synonym: "tumour of the glottis" EXACT OMO:0003005 [] xref: DOID:2597 {source="MONDO:equivalentTo"} xref: NCIT:C4425 {source="DOID:2597", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: SCTID:126693009 {source="DOID:2597", source="MONDO:equivalentTo"} @@ -36048,15 +36756,20 @@ name: benign laryngeal neoplasm def: "A non-metastasizing neoplasm that arises from the larynx. Representative examples include squamous papilloma and hemangioma." [NCIT:C3601] synonym: "benign laryngeal neoplasm" EXACT [NCIT:C3601] synonym: "benign laryngeal tumor" EXACT [NCIT:C3601] +synonym: "benign laryngeal tumour" EXACT OMO:0003005 [] synonym: "benign larynx neoplasm" EXACT [NCIT:C3601] synonym: "benign larynx tumor" EXACT [NCIT:C3601] +synonym: "benign larynx tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of larynx" EXACT [NCIT:C3601] synonym: "benign neoplasm of the larynx" EXACT [NCIT:C3601] synonym: "benign tumor of larynx" EXACT [NCIT:C3601] synonym: "benign tumor of the larynx" EXACT [NCIT:C3601] +synonym: "benign tumour of larynx" EXACT OMO:0003005 [] +synonym: "benign tumour of the larynx" EXACT OMO:0003005 [] synonym: "laryngeal benign neoplasm" RELATED [DOID:2598] synonym: "laryngeal neoplasm, benign" EXACT [NCIT:C3601] synonym: "laryngeal tumor" BROAD [DOID:2598, NCIT:C3156] +synonym: "laryngeal tumour" BROAD OMO:0003005 [] synonym: "larynx benign neoplasm" EXACT [MONDO:patterns/location] synonym: "larynx neoplasm" BROAD [DOID:2598] synonym: "neoplasm of larynx" RELATED EXCLUDE [DOID:2598] @@ -36135,6 +36848,7 @@ synonym: "malignant hepatic flexure of colon neoplasm" EXACT [MONDO:patterns/can synonym: "malignant neoplasm of hepatic flexure" EXACT [DOID:260, ICD9CM:153.0] synonym: "malignant neoplasm of hepatic flexure of colon" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of hepatic flexure" EXACT [DOID:260] +synonym: "malignant tumour of hepatic flexure" EXACT OMO:0003005 [] xref: DOID:260 {source="MONDO:equivalentTo"} xref: ICD10CM:C18.3 {source="DOID:260"} xref: ICD9:153.0 {source="DOID:260", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -36223,6 +36937,7 @@ synonym: "cancer of transverse colon" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of transverse colon" EXACT [MONDO:patterns/cancer] synonym: "malignant transverse colon neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of transverse colon" EXACT [DOID:261] +synonym: "malignant tumour of transverse colon" EXACT OMO:0003005 [] synonym: "transverse colon cancer" EXACT [MONDO:patterns/location] xref: DOID:261 {source="MONDO:equivalentTo"} xref: ICD10CM:C18.4 {source="DOID:261"} @@ -36290,6 +37005,7 @@ synonym: "hemangiopericytoma of kidney" EXACT [NCIT:C4527] synonym: "hemangiopericytoma of the kidney" EXACT [NCIT:C4527] synonym: "kidney hemangiopericytoma" EXACT [MONDO:patterns/location] synonym: "kidney spindle cell tumor" EXACT [MONDO:patterns/location] +synonym: "kidney spindle cell tumour" EXACT OMO:0003005 [] synonym: "renal hemangiopericytoma" EXACT [DOID:262, NCIT:C4527] xref: DOID:262 {source="MONDO:equivalentTo"} xref: NCIT:C4527 {source="MONDO:equivalentTo", source="DOID:262"} @@ -36307,10 +37023,13 @@ synonym: "autonomic nervous system neoplasm" EXACT [NCIT:C5112] synonym: "autonomic nervous system neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "autonomic nervous system neoplasms" EXACT [NCIT:C5112] synonym: "autonomic nervous system tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5112] +synonym: "autonomic nervous system tumour" EXACT OMO:0003005 [] synonym: "neoplasm of autonomic nervous system" EXACT [MONDO:patterns/neoplasm, NCIT:C5112] synonym: "neoplasm of the autonomic nervous system" EXACT [NCIT:C5112] synonym: "tumor of autonomic nervous system" EXACT [DOID:2621, MONDO:patterns/neoplasm, NCIT:C5112] synonym: "tumor of the autonomic nervous system" EXACT [NCIT:C5112] +synonym: "tumour of autonomic nervous system" EXACT OMO:0003005 [] +synonym: "tumour of the autonomic nervous system" EXACT OMO:0003005 [] xref: DOID:2621 {source="MONDO:equivalentTo"} xref: NCIT:C5112 {source="MONDO:equivalentTo", source="DOID:2621", source="MONDO:exact-label-match"} xref: UMLS:C1332356 {source="NCIT:C5112", source="MONDO:equivalentTo", source="DOID:2621"} @@ -36326,14 +37045,17 @@ synonym: "cancer of kidney" EXACT [MONDO:patterns/cancer] synonym: "kidney cancer" EXACT [MONDO:patterns/location] synonym: "malignant kidney neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7548] synonym: "malignant kidney tumor" EXACT [NCIT:C7548] +synonym: "malignant kidney tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of kidney" EXACT [MONDO:patterns/cancer, NCIT:C7548] synonym: "malignant neoplasm of kidney except pelvis" EXACT [DOID:263] synonym: "malignant neoplasm of the kidney" EXACT [NCIT:C7548] synonym: "malignant renal neoplasm" EXACT [NCIT:C7548] synonym: "malignant renal tumor" EXACT [NCIT:C7548] -synonym: "malignant tumor of kidney" EXACT [NCIT:C7548] -synonym: "malignant tumor of kidney" EXACT [DOID:263] +synonym: "malignant renal tumour" EXACT OMO:0003005 [] +synonym: "malignant tumor of kidney" EXACT [DOID:263, NCIT:C7548] synonym: "malignant tumor of the kidney" EXACT [NCIT:C7548] +synonym: "malignant tumour of kidney" EXACT OMO:0003005 [] +synonym: "malignant tumour of the kidney" EXACT OMO:0003005 [] synonym: "renal cancer" RELATED EXCLUDE [DOID:263] xref: DOID:263 {source="MONDO:equivalentTo"} xref: ICD10CM:C64 {source="DOID:263"} @@ -36405,14 +37127,19 @@ id: MONDO:0002370 name: ovarian Brenner tumor def: "A benign, borderline, or malignant transitional cell neoplasm arising from the ovary. It constitutes between 1% and 2% of all ovarian neoplasms. The average age at presentation is about 50 years. Grossly it is usually unilateral, firm and white or yellowish. Microscopically it consists of solid and cystic nests of epithelial cells resembling transitional epithelium surrounded by an abundant stromal component of dense, fibroblastic nature." [NCIT:C3872] synonym: "benign ovarian Brenner tumor" NARROW [DOID:2636] +synonym: "benign ovarian Brenner tumour" NARROW OMO:0003005 [] synonym: "Brenner neoplasm of ovary" EXACT [NCIT:C3872] synonym: "Brenner neoplasm of the ovary" EXACT [NCIT:C3872] synonym: "Brenner tumor" BROAD [NCIT:C3872] synonym: "Brenner tumor of ovary" EXACT [NCIT:C3872] synonym: "Brenner tumor of the ovary" EXACT [NCIT:C3872] +synonym: "Brenner tumour" BROAD OMO:0003005 [] +synonym: "Brenner tumour of ovary" EXACT OMO:0003005 [] +synonym: "Brenner tumour of the ovary" EXACT OMO:0003005 [] synonym: "ovarian Brenner neoplasm" EXACT [NCIT:C3872] synonym: "ovarian Brenner tumor" EXACT [NCIT:C3872] synonym: "ovary Brenner tumor" EXACT [MONDO:patterns/location] +synonym: "ovary Brenner tumour" EXACT OMO:0003005 [] xref: DOID:2636 {source="MONDO:equivalentTo"} xref: EFO:1000112 {source="MONDO:equivalentTo"} xref: MESH:D001948 {source="DOID:2636"} @@ -36451,6 +37178,7 @@ is_a: MONDO:0002056 {source="DOID:2639", source="NCIT:C4272"} ! breast fibroaden id: MONDO:0002372 name: ovarian monodermal and highly specialized teratoma def: "A teratoma of the ovary composed exclusively or predominantly of a single type of tissue derived from the ectoderm or endoderm. A representative example is struma ovarii which is a teratoma composed exclusively or predominantly of thyroid tissue." [NCIT:C8113] +synonym: "ovarian germ cell monodermal and highly specialised teratoma" EXACT OMO:0003005 [] synonym: "ovarian germ cell monodermal and highly specialized teratoma" EXACT [NCIT:C8113] synonym: "ovarian monodermal and highly specialized teratoma" EXACT [DOID:2641, NCIT:C8113] xref: DOID:2641 {source="MONDO:equivalentTo"} @@ -36464,6 +37192,8 @@ name: benign mesothelioma def: "A benign proliferative neoplasm made up of epithelial and mesenchymal cells of the mesothelium which make up part of the serosal covering and lining of various organ surfaces within the body." [PMID:30285380] synonym: "benign tumor of mesothelial tissue" EXACT [] synonym: "benign tumor of mesothelium" EXACT [DOID:2645, NCIT:C4280] +synonym: "benign tumour of mesothelial tissue" EXACT OMO:0003005 [] +synonym: "benign tumour of mesothelium" EXACT OMO:0003005 [] synonym: "mesothelioma, benign" EXACT [MONDO:patterns/benign] xref: DOID:2645 {source="MONDO:equivalentTo"} xref: ICD10CM:C45 {source="MONDO:relatedTo", source="DOID:2645"} @@ -36559,8 +37289,8 @@ synonym: "dermoid" EXACT [NCIT:C9011] synonym: "dermoid choristoma" EXACT [DOID:2658] synonym: "dermoid cyst" EXACT [NCIT:C9011] synonym: "dermoid cyst, benign" EXACT [NCIT:C9011] -synonym: "dermoid tumor" EXACT [DOID:2658] -synonym: "dermoid tumor" EXACT [NCIT:C9011] +synonym: "dermoid tumor" EXACT [DOID:2658, NCIT:C9011] +synonym: "dermoid tumour" EXACT OMO:0003005 [] synonym: "mature cystic teratoma" EXACT [DOID:2658, NCIT:C9011] synonym: "subcutaneous cystic teratoma" EXACT [NCIT:C9011] synonym: "teratoma, benign" RELATED [DOID:2658] @@ -36633,8 +37363,13 @@ synonym: "sweat gland neoplasms" EXACT [NCIT:C3398] synonym: "sweat gland tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3398] synonym: "sweat gland tumor (morphologic abnormality)" EXACT [DOID:2664] synonym: "sweat gland tumor NOS (morphologic abnormality)" EXACT [DOID:2664] +synonym: "sweat gland tumour" EXACT OMO:0003005 [] +synonym: "sweat gland tumour (morphologic abnormality)" EXACT OMO:0003005 [] +synonym: "sweat gland tumour NOS (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "tumor of sweat gland" EXACT [MONDO:patterns/neoplasm, NCIT:C3398] synonym: "tumor of the sweat gland" EXACT [DOID:2664, NCIT:C3398] +synonym: "tumour of sweat gland" EXACT OMO:0003005 [] +synonym: "tumour of the sweat gland" EXACT OMO:0003005 [] xref: DOID:2664 {source="MONDO:equivalentTo"} xref: EFO:1001204 {source="MONDO:equivalentTo"} xref: ICD9:239.2 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -36673,6 +37408,7 @@ name: Pacinian tumor def: "A neurofibroma characterized by the presence of structures which resemble Vater-Pacini corpuscles." [NCIT:P378] synonym: "Pacinian neurofibroma" EXACT [DOID:2669, NCIT:C4328] synonym: "Pacinian tumor (morphologic abnormality)" EXACT [DOID:2669] +synonym: "Pacinian tumour (morphologic abnormality)" EXACT OMO:0003005 [] xref: DOID:2669 {source="MONDO:equivalentTo"} xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9507/0 {source="NCIT:C4328"} @@ -36710,6 +37446,7 @@ synonym: "adult mesoblastic nephroma" RELATED [NCIT:C37263] synonym: "benign MEST" EXACT [DOID:2678, NCIT:C37264] synonym: "MEST" EXACT ABBREVIATION [DOID:2678, NCIT:C37263] synonym: "mixed epithelial and stromal tumor of kidney" EXACT [DOID:2678] +synonym: "mixed epithelial and stromal tumour of kidney" EXACT OMO:0003005 [] synonym: "mixed epithelial stromal tumor of the kidney" EXACT [NCIT:C37263] xref: DOID:2678 {source="MONDO:equivalentObsolete"} xref: EFO:1000381 {source="MONDO:equivalentTo"} @@ -36869,6 +37606,15 @@ name: tenosynovial giant cell tumor, localized type def: "A well-circumscribed, lobulated tumor, completely or partially covered by a fibrous capsule. It usually arises in the fingers. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. The tumor is slow-growing, usually developing over several years. Clinical presentation includes painless edema of the affected site." [NCIT:C6532] synonym: "benign synovioma" RELATED [DOID:2701] synonym: "benign tumor of synovium" RELATED [DOID:2701, NCIT:C3829] +synonym: "benign tumour of synovium" RELATED OMO:0003005 [] +synonym: "localised giant cell neoplasm of tendon sheath" EXACT OMO:0003005 [] +synonym: "localised giant cell neoplasm of Tenosynovium" EXACT OMO:0003005 [] +synonym: "localised giant cell neoplasm of the Tenosynovium" EXACT OMO:0003005 [] +synonym: "localised giant cell tumour of tendon sheath" EXACT OMO:0003005 [] +synonym: "localised giant cell tumour of Tenosynovium" EXACT OMO:0003005 [] +synonym: "localised giant cell tumour of the Tenosynovium" EXACT OMO:0003005 [] +synonym: "localised tenosynovial giant cell neoplasm" EXACT OMO:0003005 [] +synonym: "localised tenosynovial giant cell tumour" EXACT OMO:0003005 [] synonym: "localized giant cell neoplasm of tendon sheath" EXACT [NCIT:C6532] synonym: "localized giant cell neoplasm of Tenosynovium" EXACT [NCIT:C6532] synonym: "localized giant cell neoplasm of the Tenosynovium" EXACT [NCIT:C6532] @@ -36925,12 +37671,16 @@ id: MONDO:0002401 name: malignant tenosynovial giant cell tumor def: "An uncommon malignant tumor arising from the tendon sheath. Morphologically, it is characterized by the presence of a cellular infiltrate reminiscent of a giant cell tumor with prominent malignant characteristics. Recurrent giant cell tumors with a sarcomatous dedifferentiation are included in this category as well." [NCIT:C6535] synonym: "giant cell tumor of tendon sheath, malignant" EXACT [DOID:2704] +synonym: "giant cell tumour of tendon sheath, malignant" EXACT OMO:0003005 [] synonym: "malignant giant cell neoplasm of tendon sheath" EXACT [NCIT:C6535] synonym: "malignant giant cell neoplasm of the tendon sheath" EXACT [DOID:2704, NCIT:C6535] synonym: "malignant giant cell tumor of tendon sheath" EXACT [NCIT:C6535] synonym: "malignant giant cell tumor of the tendon sheath" EXACT [NCIT:C6535] +synonym: "malignant giant cell tumour of tendon sheath" EXACT OMO:0003005 [] +synonym: "malignant giant cell tumour of the tendon sheath" EXACT OMO:0003005 [] synonym: "malignant tendon sheath giant cell neoplasm" EXACT [NCIT:C6535] synonym: "malignant tendon sheath giant cell tumor" EXACT [NCIT:C6535] +synonym: "malignant tendon sheath giant cell tumour" EXACT OMO:0003005 [] synonym: "malignant tenosynovial giant cell tumor" EXACT [NCIT:C6535] synonym: "tenosynovial giant cell tumor, malignant" EXACT [MONDO:patterns/malignant] xref: DOID:2704 {source="MONDO:equivalentTo"} @@ -36977,8 +37727,11 @@ synonym: "malignant neoplasm of the synovium" EXACT [NCIT:C6531] synonym: "malignant synovial membrane of synovial joint neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant synovial neoplasm" EXACT [NCIT:C6531] synonym: "malignant synovial tumor" EXACT [NCIT:C6531] +synonym: "malignant synovial tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of synovium" EXACT [DOID:2706, NCIT:C6531] synonym: "malignant tumor of the synovium" EXACT [NCIT:C6531] +synonym: "malignant tumour of synovium" EXACT OMO:0003005 [] +synonym: "malignant tumour of the synovium" EXACT OMO:0003005 [] synonym: "synovial membrane of synovial joint cancer" EXACT [] xref: DOID:2706 {source="MONDO:equivalentTo"} xref: NCIT:C6531 {source="MONDO:equivalentTo", source="DOID:2706"} @@ -37436,10 +38189,14 @@ synonym: "neoplasm of rectosigmoid junction" EXACT [MONDO:patterns/neoplasm, NCI synonym: "neoplasm of the rectosigmoid junction" EXACT [NCIT:C4877] synonym: "rectosigmoid junction neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "rectosigmoid junction tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "rectosigmoid junction tumour" EXACT OMO:0003005 [] synonym: "rectosigmoid neoplasm" EXACT [DOID:2780, NCIT:C4877] synonym: "rectosigmoid tumor" EXACT [DOID:2780, NCIT:C4877] +synonym: "rectosigmoid tumour" EXACT OMO:0003005 [] synonym: "tumor of rectosigmoid junction" EXACT [MONDO:patterns/neoplasm, NCIT:C4877] synonym: "tumor of the rectosigmoid junction" EXACT [NCIT:C4877] +synonym: "tumour of rectosigmoid junction" EXACT OMO:0003005 [] +synonym: "tumour of the rectosigmoid junction" EXACT OMO:0003005 [] xref: DOID:2780 {source="MONDO:equivalentTo"} xref: NCIT:C4877 {source="DOID:2780", source="MONDO:equivalentTo"} xref: SCTID:126848003 {source="DOID:2780", source="MONDO:equivalentTo"} @@ -37476,8 +38233,11 @@ synonym: "malignant neoplasm of the rectosigmoid junction" EXACT [NCIT:C7420] synonym: "malignant rectosigmoid junction neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant rectosigmoid neoplasm" EXACT [NCIT:C7420] synonym: "malignant rectosigmoid tumor" EXACT [DOID:2782, NCIT:C7420] +synonym: "malignant rectosigmoid tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of rectosigmoid junction" EXACT [NCIT:C7420] synonym: "malignant tumor of the rectosigmoid junction" EXACT [NCIT:C7420] +synonym: "malignant tumour of rectosigmoid junction" EXACT OMO:0003005 [] +synonym: "malignant tumour of the rectosigmoid junction" EXACT OMO:0003005 [] synonym: "rectosigmoid junction cancer" EXACT [MONDO:patterns/location] xref: DOID:2782 {source="MONDO:equivalentTo"} xref: ICD10CM:C19 {source="DOID:2782", source="MONDO:equivalentTo"} @@ -37612,8 +38372,10 @@ synonym: "cancer of the vestibulocochlear nerve" EXACT [NCIT:C4539] synonym: "cancer of vestibulocochlear nerve" EXACT [MONDO:patterns/cancer] synonym: "malignant acoustic nerve neoplasm" EXACT [NCIT:C4539] synonym: "malignant acoustic nerve tumor" EXACT [NCIT:C4539] +synonym: "malignant acoustic nerve tumour" EXACT OMO:0003005 [] synonym: "malignant eighth cranial nerve neoplasm" EXACT [NCIT:C4539] synonym: "malignant eighth cranial nerve tumor" EXACT [NCIT:C4539] +synonym: "malignant eighth cranial nerve tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of eighth cranial nerve" EXACT [NCIT:C4539] synonym: "malignant neoplasm of the acoustic nerve" EXACT [NCIT:C4539] synonym: "malignant neoplasm of the eighth cranial nerve" EXACT [NCIT:C4539] @@ -37626,8 +38388,16 @@ synonym: "malignant tumor of the acoustic nerve" EXACT [NCIT:C4539] synonym: "malignant tumor of the eighth cranial nerve" EXACT [NCIT:C4539] synonym: "malignant tumor of the vestibulocochlear nerve" EXACT [DOID:2814, NCIT:C4539] synonym: "malignant tumor of vestibulocochlear nerve" EXACT [NCIT:C4539] +synonym: "malignant tumour of acoustic nerve" EXACT OMO:0003005 [] +synonym: "malignant tumour of acoustic vestibular nerve" EXACT OMO:0003005 [] +synonym: "malignant tumour of eighth cranial nerve" EXACT OMO:0003005 [] +synonym: "malignant tumour of the acoustic nerve" EXACT OMO:0003005 [] +synonym: "malignant tumour of the eighth cranial nerve" EXACT OMO:0003005 [] +synonym: "malignant tumour of the vestibulocochlear nerve" EXACT OMO:0003005 [] +synonym: "malignant tumour of vestibulocochlear nerve" EXACT OMO:0003005 [] synonym: "malignant vestibulocochlear nerve neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant vestibulocochlear nerve tumor" EXACT [NCIT:C4539] +synonym: "malignant vestibulocochlear nerve tumour" EXACT OMO:0003005 [] synonym: "vestibulocochlear nerve cancer" EXACT [MONDO:patterns/location] xref: DOID:2814 {source="MONDO:equivalentTo"} xref: ICD10CM:C72.4 {source="DOID:2814"} @@ -37653,11 +38423,14 @@ synonym: "cranial nerve malignant neoplasm" RELATED [DOID:2815] synonym: "cranial nerve neoplasm, malignant" EXACT [NCIT:C3571] synonym: "malignant cranial nerve neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3571] synonym: "malignant cranial nerve tumor" EXACT [NCIT:C3571] +synonym: "malignant cranial nerve tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of cranial nerve" EXACT [DOID:2815, MONDO:patterns/cancer, NCIT:C3571] synonym: "malignant neoplasm of cranial nerves" EXACT [DOID:2815, ICD9CM:192.0] synonym: "malignant neoplasm of the cranial nerve" EXACT [NCIT:C3571] synonym: "malignant tumor of cranial nerve" EXACT [NCIT:C3571] synonym: "malignant tumor of the cranial nerve" EXACT [DOID:2815, NCIT:C3571] +synonym: "malignant tumour of cranial nerve" EXACT OMO:0003005 [] +synonym: "malignant tumour of the cranial nerve" EXACT OMO:0003005 [] xref: DOID:2815 {source="MONDO:equivalentTo"} xref: ICD10CM:C72.50 {source="DOID:2815"} xref: ICD9:192.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:2815"} @@ -37680,6 +38453,7 @@ synonym: "IIIrd cranial nerve neoplasm, malignant" EXACT [DOID:2816, NCIT:C6995] synonym: "malignant neoplasm of oculomotor nerve" EXACT [MONDO:patterns/cancer] synonym: "malignant oculomotor nerve neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant oculomotor nerve tumor" RELATED [DOID:2816] +synonym: "malignant oculomotor nerve tumour" RELATED OMO:0003005 [] synonym: "oculomotor nerve cancer" EXACT [MONDO:patterns/location] synonym: "oculomotor nerve neoplasm, malignant" EXACT [NCIT:C6995] synonym: "primary malignant neoplasm of oculomotor nerve" EXACT [DOID:2816] @@ -37697,12 +38471,16 @@ id: MONDO:0002435 name: oculomotor nerve neoplasm def: "A neoplasm involving a oculomotor nerve." [MONDO:patterns/neoplasm] synonym: "cranial nerve III tumor" RELATED [DOID:2817] +synonym: "cranial nerve III tumour" RELATED OMO:0003005 [] synonym: "IIIrd cranial nerve tumor" EXACT [NCIT:C6994] +synonym: "IIIrd cranial nerve tumour" EXACT OMO:0003005 [] synonym: "neoplasm of oculomotor nerve" EXACT [MONDO:patterns/neoplasm] synonym: "oculomotor nerve neoplasm" EXACT [NCIT:C6994] synonym: "oculomotor nerve neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "oculomotor nerve tumor" EXACT [DOID:2817, MONDO:patterns/neoplasm, NCIT:C6994] +synonym: "oculomotor nerve tumour" EXACT OMO:0003005 [] synonym: "tumor of oculomotor nerve" EXACT [MONDO:patterns/neoplasm] +synonym: "tumour of oculomotor nerve" EXACT OMO:0003005 [] xref: DOID:2817 {source="MONDO:equivalentTo"} xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C6994 {source="MONDO:equivalentTo", source="DOID:2817"} @@ -38006,11 +38784,14 @@ synonym: "benign phyllodes neoplasm of prostate" EXACT [NCIT:C5532] synonym: "benign phyllodes neoplasm of the prostate" EXACT [DOID:2885, NCIT:C5532] synonym: "benign phyllodes tumor of prostate" EXACT [NCIT:C5532] synonym: "benign phyllodes tumor of the prostate" EXACT [NCIT:C5532] +synonym: "benign phyllodes tumour of prostate" EXACT OMO:0003005 [] +synonym: "benign phyllodes tumour of the prostate" EXACT OMO:0003005 [] synonym: "benign prostate phyllodes neoplasm" EXACT [NCIT:C5532] synonym: "benign prostate phyllodes tumor" EXACT [NCIT:C5532] synonym: "phyllodes neoplasm of the prostate" BROAD [DOID:2885, NCIT:C7574] synonym: "prostate phyllodes tumor" BROAD [DOID:2885] synonym: "prostate phyllodes tumor, benign" EXACT [MONDO:patterns/benign] +synonym: "prostate phyllodes tumour" BROAD OMO:0003005 [] xref: DOID:2885 {source="MONDO:equivalentTo"} xref: NCIT:C5532 {source="MONDO:equivalentTo", source="DOID:2885"} xref: NCIT:C7574 {source="DOID:2885"} @@ -38172,12 +38953,15 @@ synonym: "lacrimal apparatus cancer" EXACT [] synonym: "lacrimal system neoplasm" EXACT [DOID:292] synonym: "lacrimal system neoplasms" EXACT [NCIT:C5102] synonym: "lacrimal system tumor" EXACT [NCIT:C5102] +synonym: "lacrimal system tumour" EXACT OMO:0003005 [] synonym: "malignant lacrimal apparatus neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of lacrimal apparatus" EXACT [MONDO:patterns/cancer] synonym: "neoplasm of lacrimal system" EXACT [NCIT:C5102] synonym: "neoplasm of the lacrimal system" EXACT [NCIT:C5102] synonym: "tumor of lacrimal system" EXACT [NCIT:C5102] synonym: "tumor of the lacrimal system" EXACT [DOID:292, NCIT:C5102] +synonym: "tumour of lacrimal system" EXACT OMO:0003005 [] +synonym: "tumour of the lacrimal system" EXACT OMO:0003005 [] xref: DOID:292 {source="MONDO:equivalentTo"} xref: NCIT:C5102 {source="MONDO:equivalentTo", source="DOID:292"} xref: SCTID:416510003 {source="MONDO:equivalentTo", source="DOID:292"} @@ -38254,13 +39038,16 @@ synonym: "cancer of lacrimal gland" EXACT [MONDO:patterns/cancer] synonym: "lacrimal gland cancer" EXACT [MONDO:patterns/location] synonym: "malignant lacrimal gland neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3563] synonym: "malignant lacrimal gland tumor" EXACT [NCIT:C3563] +synonym: "malignant lacrimal gland tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of lacrimal gland" EXACT [DOID:294, MONDO:patterns/cancer, NCIT:C3563] synonym: "malignant neoplasm of the lacrimal gland" EXACT [NCIT:C3563] -synonym: "malignant tumor of lacrimal gland" EXACT [DOID:294] -synonym: "malignant tumor of lacrimal gland" EXACT [NCIT:C3563] +synonym: "malignant tumor of lacrimal gland" EXACT [DOID:294, NCIT:C3563] synonym: "malignant tumor of the lacrimal gland" EXACT [NCIT:C3563] +synonym: "malignant tumour of lacrimal gland" EXACT OMO:0003005 [] +synonym: "malignant tumour of the lacrimal gland" EXACT OMO:0003005 [] synonym: "neoplasm of lacrimal gland" BROAD EXCLUDE [DOID:294] synonym: "tumor of the lacrimal gland" BROAD [DOID:294, NCIT:C4360] +synonym: "tumour of the lacrimal gland" BROAD OMO:0003005 [] xref: DOID:294 {source="MONDO:equivalentTo"} xref: ICD9:190.2 {source="DOID:294"} xref: ICD9:239.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -38372,10 +39159,13 @@ synonym: "carcinoma ex pleomorphic adenoma of the lacrimal gland" EXACT [NCIT:C6 synonym: "lacrimal gland carcinoma ex pleomorphic adenoma" EXACT [MONDO:patterns/location, NCIT:C6804] synonym: "lacrimal gland malignant mixed neoplasm" EXACT [MONDO:patterns/location, NCIT:C6804] synonym: "lacrimal gland malignant mixed tumor" EXACT [NCIT:C6804] +synonym: "lacrimal gland malignant mixed tumour" EXACT OMO:0003005 [] synonym: "malignant mixed neoplasm of lacrimal gland" EXACT [DOID:296, NCIT:C6090, NCIT:C6804] synonym: "malignant mixed neoplasm of the lacrimal gland" EXACT [NCIT:C6804] synonym: "malignant mixed tumor of lacrimal gland" EXACT [NCIT:C6804] synonym: "malignant mixed tumor of the lacrimal gland" EXACT [NCIT:C6804] +synonym: "malignant mixed tumour of lacrimal gland" EXACT OMO:0003005 [] +synonym: "malignant mixed tumour of the lacrimal gland" EXACT OMO:0003005 [] synonym: "mixed lacrimal gland cancer" RELATED [DOID:296] xref: DOID:296 {source="MONDO:equivalentTo"} xref: NCIT:C6804 {source="MONDO:equivalentTo", source="DOID:296"} @@ -38553,10 +39343,12 @@ synonym: "neuroendocrine neoplasm of prostate" EXACT [NCIT:C5545] synonym: "neuroendocrine neoplasm of prostate gland" EXACT [MONDO:design_pattern, MONDO:patterns/neuroendocrine_neoplasm] synonym: "neuroendocrine neoplasm of the prostate" EXACT [NCIT:C5545] synonym: "neuroendocrine tumor of the prostate" EXACT [DOID:2992, NCIT:C5545] +synonym: "neuroendocrine tumour of the prostate" EXACT OMO:0003005 [] synonym: "prostate gland NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "prostate gland neuroendocrine neoplasm" EXACT [MONDO:patterns/location] synonym: "prostate gland neuroendocrine tumor" EXACT [MONDO:patterns/location, MONDO:patterns/neuroendocrine_neoplasm] synonym: "prostate gland neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm] +synonym: "prostate gland neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "prostate neuroendocrine carcinoma" RELATED [ONCOTREE:PRNE] synonym: "prostate neuroendocrine neoplasm" EXACT [NCIT:C5545] xref: DOID:2992 {source="MONDO:equivalentTo"} @@ -38575,9 +39367,12 @@ name: mixed germ cell-sex cord-stromal tumor def: "A biphasic neoplasm that arises from the ovary or the testis. It is characterized by the presence of neoplastic germ cells and neoplastic sex cord-stromal cells. It includes the gonadoblastoma and mixed germ cell-sex cord stromal tumor, unclassifiable." [NCIT:C5241] synonym: "mixed germ cell-Sex cord neoplasm" EXACT [NCIT:C5241] synonym: "mixed germ cell-Sex cord tumor" EXACT [DOID:2996, NCIT:C5241] +synonym: "mixed germ cell-Sex cord tumour" EXACT OMO:0003005 [] synonym: "mixed germ cell-Sex cord-stromal neoplasm" EXACT [NCIT:C5241] synonym: "mixed germ cell-Sex cord-stromal tumor" EXACT [NCIT:C5241] synonym: "mixed germ cell-sex cord-stromal tumor (morphologic abnormality)" EXACT [DOID:2996] +synonym: "mixed germ cell-Sex cord-stromal tumour" EXACT OMO:0003005 [] +synonym: "mixed germ cell-sex cord-stromal tumour (morphologic abnormality)" EXACT OMO:0003005 [] xref: DOID:2996 {source="MONDO:equivalentTo"} xref: NCIT:C5241 {source="DOID:2996", source="MONDO:equivalentTo"} xref: SCTID:406096006 {source="DOID:2996"} @@ -38609,9 +39404,13 @@ synonym: "endometrioid tumor" EXACT [NCIT:C7113] synonym: "endometrioid tumor (morphologic abnormality)" EXACT [DOID:3001] synonym: "endometrioid tumor of female reproductive system" EXACT [NCIT:C7113] synonym: "endometrioid tumor of the female reproductive system" EXACT [NCIT:C7113] +synonym: "endometrioid tumour (morphologic abnormality)" EXACT OMO:0003005 [] +synonym: "endometrioid tumour of female reproductive system" EXACT OMO:0003005 [] +synonym: "endometrioid tumour of the female reproductive system" EXACT OMO:0003005 [] synonym: "female reproductive endometrioid cancer" RELATED [DOID:3001] synonym: "female reproductive endometrioid neoplasm" EXACT [DOID:3001, NCIT:C7113] synonym: "female reproductive endometrioid tumor" EXACT [NCIT:C7113] +synonym: "female reproductive endometrioid tumour" EXACT OMO:0003005 [] xref: DOID:3001 {source="MONDO:equivalentTo"} xref: EFO:0009118 {source="MONDO:equivalentTo"} xref: NCIT:C7113 {source="DOID:3001", source="MONDO:equivalentTo"} @@ -38628,11 +39427,13 @@ def: "An epithelial neoplasm with neuroendocrine differentiation that arises fro synonym: "neuroendocrine neoplasm of ovary" EXACT [MONDO:patterns/neuroendocrine_neoplasm, NCIT:C5237] synonym: "neuroendocrine neoplasm of the ovary" EXACT [NCIT:C5237] synonym: "neuroendocrine tumor of ovary" EXACT [DOID:3002, NCIT:C5237] +synonym: "neuroendocrine tumour of ovary" EXACT OMO:0003005 [] synonym: "ovarian neuroendocrine neoplasm" EXACT [NCIT:C5237] synonym: "ovary NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "ovary neuroendocrine neoplasm" EXACT [MONDO:patterns/location] synonym: "ovary neuroendocrine tumor" EXACT [MONDO:patterns/location, MONDO:patterns/neuroendocrine_neoplasm] synonym: "ovary neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm] +synonym: "ovary neuroendocrine tumour" EXACT OMO:0003005 [] xref: DOID:3002 {source="MONDO:equivalentTo"} xref: NCIT:C5237 {source="DOID:3002", source="MONDO:equivalentTo"} xref: UMLS:C1335172 {source="DOID:3002", source="MONDO:equivalentTo", source="NCIT:C5237"} @@ -38651,8 +39452,11 @@ synonym: "neoplasm of the nipple" EXACT [NCIT:C5212] synonym: "nipple neoplasm" EXACT [NCIT:C5212] synonym: "nipple neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "nipple tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5212] +synonym: "nipple tumour" EXACT OMO:0003005 [] synonym: "tumor of nipple" EXACT [DOID:3003, MONDO:patterns/neoplasm, NCIT:C5212] synonym: "tumor of the nipple" EXACT [NCIT:C5212] +synonym: "tumour of nipple" EXACT OMO:0003005 [] +synonym: "tumour of the nipple" EXACT OMO:0003005 [] xref: DOID:3003 {source="MONDO:equivalentTo"} xref: NCIT:C5212 {source="DOID:3003", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C1112166 {source="DOID:3003", source="MONDO:equivalentTo", source="NCIT:C5212"} @@ -38690,9 +39494,11 @@ synonym: "breast NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "breast neuroendocrine neoplasm" EXACT [MONDO:patterns/location, NCIT:C5169] synonym: "breast neuroendocrine tumor" EXACT [MONDO:patterns/location, MONDO:patterns/neuroendocrine_neoplasm] synonym: "breast neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm] +synonym: "breast neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "neuroendocrine neoplasm of breast" EXACT [MONDO:patterns/neuroendocrine_neoplasm, NCIT:C5169] synonym: "neuroendocrine neoplasm of the breast" EXACT [NCIT:C5169] synonym: "neuroendocrine tumor of the breast" EXACT [DOID:3009, NCIT:C5169] +synonym: "neuroendocrine tumour of the breast" EXACT OMO:0003005 [] xref: DOID:3009 {source="MONDO:equivalentTo"} xref: NCIT:C5169 {source="MONDO:equivalentTo", source="DOID:3009", source="MONDO:exact-label-match"} xref: UMLS:C1332635 {source="MONDO:equivalentTo", source="NCIT:C5169", source="DOID:3009"} @@ -38722,6 +39528,7 @@ name: breast granular cell tumor def: "A usually benign neoplasm that arises from the breast. It presents as a single, firm, and painless mass. It is characterized by the presence of neoplastic cells with eosinophilic granular cytoplasm." [NCIT:C40400] synonym: "breast granular cell tumor" EXACT [MONDO:patterns/location, NCIT:C40400] synonym: "granular cell tumor of breast" EXACT [MONDO:design_pattern] +synonym: "granular cell tumour of breast" EXACT OMO:0003005 [] xref: DOID:3011 {source="MONDO:equivalentTo"} xref: NCIT:C40400 {source="DOID:3011", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C1511312 {source="DOID:3011", source="MONDO:equivalentTo", source="NCIT:C40400"} @@ -38748,6 +39555,7 @@ id: MONDO:0002489 name: malignant breast phyllodes tumor def: "A phyllodes tumor of the breast characterized by infiltrative margins and a sarcomatous stromal component. The sarcomatous stroma usually displays features of fibrosarcoma. Liposarcomatous, osteosarcomatous, or rhabdomyosarcomatous elements may also be present." [NCIT:C4504] synonym: "breast malignant phyllodes tumor" RELATED [DOID:3016] +synonym: "breast malignant phyllodes tumour" RELATED OMO:0003005 [] synonym: "breast phyllodes tumor, malignant" EXACT [MONDO:patterns/malignant] synonym: "malignant breast phyllodes neoplasm" EXACT [NCIT:C4504] synonym: "malignant breast phyllodes tumor" EXACT [NCIT:C4504] @@ -38757,6 +39565,7 @@ synonym: "malignant cystosarcoma phyllodes of breast" EXACT [NCIT:C4504] synonym: "malignant cystosarcoma phyllodes of the breast" EXACT [NCIT:C4504] synonym: "malignant mammary phyllodes neoplasm" EXACT [NCIT:C4504] synonym: "malignant mammary phyllodes tumor" EXACT [DOID:3016, NCIT:C4504] +synonym: "malignant mammary phyllodes tumour" EXACT OMO:0003005 [] synonym: "malignant phyllodes breast neoplasm" EXACT [NCIT:C4504] synonym: "malignant phyllodes neoplasm" BROAD [DOID:3016] synonym: "malignant phyllodes neoplasm of breast" EXACT [NCIT:C4504] @@ -38765,8 +39574,13 @@ synonym: "malignant phyllodes tumor" RELATED EXCLUDE [DOID:3016] synonym: "malignant phyllodes tumor (morphologic abnormality)" EXACT [DOID:3016] synonym: "malignant phyllodes tumor of breast" EXACT [NCIT:C4504] synonym: "malignant phyllodes tumor of the breast" EXACT [NCIT:C4504] +synonym: "malignant phyllodes tumour" RELATED OMO:0003005 [] +synonym: "malignant phyllodes tumour (morphologic abnormality)" EXACT OMO:0003005 [] +synonym: "malignant phyllodes tumour of breast" EXACT OMO:0003005 [] +synonym: "malignant phyllodes tumour of the breast" EXACT OMO:0003005 [] synonym: "phyllodes breast neoplasm" BROAD [DOID:3016] synonym: "phyllodes breast tumor" BROAD [DOID:3016] +synonym: "phyllodes breast tumour" BROAD OMO:0003005 [] synonym: "phyllodes tumor, malignant" RELATED EXCLUDE [DOID:3016] synonym: "phyllodes tumor, malignant (morphologic abnormality)" BROAD [DOID:3016] xref: DOID:3016 {source="MONDO:equivalentTo"} @@ -38944,8 +39758,11 @@ synonym: "grade IV astrocytic neoplasm of brain" EXACT [NCIT:C4642] synonym: "grade IV astrocytic neoplasm of the brain" EXACT [NCIT:C4642] synonym: "grade IV astrocytic tumor of brain" EXACT [NCIT:C4642] synonym: "grade IV astrocytic tumor of the brain" EXACT [NCIT:C4642] +synonym: "grade IV astrocytic tumour of brain" EXACT OMO:0003005 [] +synonym: "grade IV astrocytic tumour of the brain" EXACT OMO:0003005 [] synonym: "grade IV brain astrocytic neoplasm" EXACT [NCIT:C4642] synonym: "grade IV brain astrocytic tumor" EXACT [NCIT:C4642] +synonym: "grade IV brain astrocytic tumour" EXACT OMO:0003005 [] xref: DOID:3073 {source="MONDO:equivalentTo"} xref: EFO:0006545 {source="MONDO:equivalentTo"} xref: NCIT:C4642 {source="MONDO:equivalentTo", source="DOID:3073"} @@ -38970,6 +39787,7 @@ synonym: "adult astrocytic neoplasm" EXACT [NCIT:C7049] synonym: "adult astrocytic tumor" EXACT [NCIT:C7049] synonym: "adult astrocytoma" EXACT [DOID:3076, NCIT:C7049] synonym: "astrocytic tumor" BROAD [NCIT:C7049] +synonym: "astrocytic tumour" BROAD OMO:0003005 [] xref: DOID:3076 {source="MONDO:equivalentTo"} xref: NCIT:C7049 {source="MONDO:equivalentTo", source="DOID:3076"} xref: UMLS:C1332183 {source="MONDO:equivalentTo", source="NCIT:C7049", source="DOID:3076"} @@ -38990,10 +39808,15 @@ def: "An astrocytic tumor appearing before the age of twenty one without designa synonym: "astrocytic tumor" BROAD [NCIT:C9022] synonym: "astrocytic tumor of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "astrocytic tumors, childhood" EXACT [NCIT:C9022] +synonym: "astrocytic tumour" BROAD OMO:0003005 [] +synonym: "astrocytic tumour of childhood" EXACT OMO:0003005 [] synonym: "childhood astrocytic neoplasm" EXACT [NCIT:C9022] synonym: "childhood astrocytic tumor" EXACT [NCIT:C9022] synonym: "juvenile astrocytoma" EXACT [DOID:3079] synonym: "juvenile astrocytoma (morphologic abnormality)" EXACT [DOID:3079] +synonym: "paediatric astrocytic neoplasm" EXACT OMO:0003005 [] +synonym: "paediatric astrocytic tumour" EXACT OMO:0003005 [] +synonym: "paediatric astrocytoma" EXACT OMO:0003005 [] synonym: "pediatric astrocytic neoplasm" EXACT [NCIT:C9022] synonym: "pediatric astrocytic tumor" EXACT [MONDO:patterns/childhood, NCIT:C9022] synonym: "pediatric astrocytoma" EXACT [DOID:3079, NCIT:C9022] @@ -39133,14 +39956,19 @@ name: kidney benign neoplasm def: "A non-metastasizing neoplasm that arises from the kidney. Representative examples include cystic nephroma, metanephric adenoma, oncocytoma, and urothelial papilloma of the renal pelvis." [NCIT:C4778] synonym: "benign kidney neoplasm" EXACT [NCIT:C4778] synonym: "benign kidney tumor" EXACT [NCIT:C4778] +synonym: "benign kidney tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of kidney" EXACT [NCIT:C4778] synonym: "benign neoplasm of the kidney" EXACT [NCIT:C4778] synonym: "benign renal neoplasm" EXACT [NCIT:C4778] synonym: "benign renal tumor" EXACT [NCIT:C4778] +synonym: "benign renal tumour" EXACT OMO:0003005 [] synonym: "benign tumor of kidney" EXACT [NCIT:C4778] synonym: "benign tumor of the kidney" EXACT [NCIT:C4778] +synonym: "benign tumour of kidney" EXACT OMO:0003005 [] +synonym: "benign tumour of the kidney" EXACT OMO:0003005 [] synonym: "kidney benign neoplasm" EXACT [MONDO:patterns/location] synonym: "renal and ureteral tumor" EXACT [DOID:3116, NCIT:C7514] +synonym: "renal and ureteral tumour" EXACT OMO:0003005 [] synonym: "renal neoplasm, benign" EXACT [NCIT:C4778] synonym: "renal tumor, benign" EXACT [NCIT:C4778] xref: DOID:3116 {source="MONDO:equivalentTo"} @@ -39163,20 +39991,26 @@ name: hepatobiliary neoplasm def: "A benign or malignant neoplasm that affects the liver parenchyma, bile ducts, and gallbladder. Representative examples of benign neoplasms include hepatocellular adenoma, bile duct adenoma, and gallbladder lipoma. Representative examples of malignant neoplasms include hepatocellular carcinoma, intrahepatic and extrahepatic cholangiocarcinoma, and gallbladder carcinoma." [NCIT:C8614] synonym: "hepatic and biliary neoplasms" EXACT [NCIT:C8614] synonym: "hepatic and biliary tumors" EXACT [NCIT:C8614] +synonym: "hepatic and biliary tumours" EXACT OMO:0003005 [] synonym: "hepatic, biliary, and gallbladder neoplasms" EXACT [NCIT:C8614] synonym: "hepato-biliary neoplasm" EXACT [NCIT:C8614] synonym: "hepato-biliary tumor" EXACT [NCIT:C8614] +synonym: "hepato-biliary tumour" EXACT OMO:0003005 [] synonym: "hepatobiliary benign neoplasm" NARROW [DOID:3117] synonym: "hepatobiliary neoplasm" EXACT [NCIT:C8614] synonym: "hepatobiliary system neoplasm" EXACT [] synonym: "hepatobiliary system neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "hepatobiliary system tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "hepatobiliary system tumour" EXACT OMO:0003005 [] synonym: "hepatobiliary tumor" EXACT [NCIT:C8614] synonym: "hepatobiliary tumors" EXACT [NCIT:C8614] +synonym: "hepatobiliary tumour" EXACT OMO:0003005 [] +synonym: "hepatobiliary tumours" EXACT OMO:0003005 [] synonym: "liver and biliary neoplasm" EXACT [NCIT:C8614] synonym: "liver and biliary system neoplasm" EXACT [NCIT:C8614] synonym: "neoplasm of hepatobiliary system" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of hepatobiliary system" EXACT [MONDO:patterns/neoplasm] +synonym: "tumour of hepatobiliary system" EXACT OMO:0003005 [] xref: DOID:0080355 {source="MONDO:equivalentTo"} xref: DOID:3117 {source="MONDO:mondoIsBroaderThanSource"} xref: EFO:0008550 {source="MONDO:equivalentTo"} @@ -39219,6 +40053,7 @@ synonym: "gastrointestinal cancer, NOS" RELATED EXCLUDE [NCIT:C4890] synonym: "gastrointestinal system cancer" EXACT [NCIT:C4890] synonym: "gastrointestinal tract cancer" EXACT [DOID:3119, NCIT:C4890] synonym: "GI tumor" BROAD [DOID:3119, NCIT:C3052] +synonym: "GI tumour" BROAD OMO:0003005 [] synonym: "malignant digestive system neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4890] synonym: "malignant gastrointestinal neoplasm" EXACT [NCIT:C4890] synonym: "malignant gastrointestinal system neoplasm" EXACT [NCIT:C4890] @@ -39357,8 +40192,12 @@ synonym: "giant cell neoplasm of the Tenosynovium" EXACT [NCIT:C3402] synonym: "giant cell tumor of tendon sheath" EXACT [DOID:314, ICD9CM:727.02, NCIT:C3402] synonym: "giant cell tumor of Tenosynovium" EXACT [DOID:314, NCIT:C3402] synonym: "giant cell tumor of the Tenosynovium" EXACT [NCIT:C3402] +synonym: "giant cell tumour of tendon sheath" EXACT OMO:0003005 [] +synonym: "giant cell tumour of Tenosynovium" EXACT OMO:0003005 [] +synonym: "giant cell tumour of the Tenosynovium" EXACT OMO:0003005 [] synonym: "tendon sheath giant cell neoplasm" EXACT [NCIT:C3402] synonym: "tendon sheath giant cell tumor" EXACT [MONDO:patterns/location, NCIT:C3402] +synonym: "tendon sheath giant cell tumour" EXACT OMO:0003005 [] synonym: "tenosynovial giant cell neoplasm" EXACT [NCIT:C3402] synonym: "tenosynovial giant cell tumor" EXACT [MONDO:0006443, NCIT:C3402] xref: DOID:314 {source="MONDO:equivalentTo"} @@ -39409,6 +40248,7 @@ def: "An inherited metabolic disorder caused by an enzyme deficiency, resulting subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:309005"} synonym: "disorder of lipid metabolism" BROAD [MONDO:0017707] +synonym: "dyslipidaemia" BROAD OMO:0003005 [] synonym: "dyslipidemia" BROAD [DOID:3146] synonym: "fatty acid metabolism disorder" RELATED [DOID:3146] synonym: "lipid metabolism disorder" BROAD [DOID:3146] @@ -39467,13 +40307,18 @@ synonym: "neoplasm of the synovium" EXACT [NCIT:C8964] synonym: "synovial membrane of synovial joint neoplasm" EXACT [] synonym: "synovial membrane of synovial joint neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "synovial membrane of synovial joint tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "synovial membrane of synovial joint tumour" EXACT OMO:0003005 [] synonym: "synovial neoplasm" EXACT [NCIT:C8964] synonym: "synovial neoplasm (morphologic abnormality)" EXACT [DOID:315] synonym: "synovial neoplasm NOS (morphologic abnormality)" EXACT [DOID:315] synonym: "synovial tumor" EXACT [NCIT:C8964] +synonym: "synovial tumour" EXACT OMO:0003005 [] synonym: "tumor of synovial membrane of synovial joint" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of synovium" EXACT [DOID:315, NCIT:C8964] synonym: "tumor of the synovium" EXACT [NCIT:C8964] +synonym: "tumour of synovial membrane of synovial joint" EXACT OMO:0003005 [] +synonym: "tumour of synovium" EXACT OMO:0003005 [] +synonym: "tumour of the synovium" EXACT OMO:0003005 [] xref: DOID:315 {source="MONDO:equivalentTo"} xref: NCIT:C8964 {source="DOID:315", source="MONDO:equivalentTo"} xref: SCTID:189829008 {source="DOID:315"} @@ -39529,12 +40374,17 @@ synonym: "skin benign neoplasm" RELATED [DOID:3165] synonym: "skin neoplasm" EXACT [DOID:3165, NCIT:C3372] synonym: "skin neoplasms" EXACT [NCIT:C3372] synonym: "skin tumor" EXACT [NCIT:C3372] +synonym: "skin tumour" EXACT OMO:0003005 [] synonym: "tumor of skin" EXACT [NCIT:C3372] synonym: "tumor of the skin" EXACT [DOID:3165, NCIT:C3372] synonym: "tumor of zone of skin" EXACT [MONDO:patterns/neoplasm] +synonym: "tumour of skin" EXACT OMO:0003005 [] +synonym: "tumour of the skin" EXACT OMO:0003005 [] +synonym: "tumour of zone of skin" EXACT OMO:0003005 [] synonym: "zone of skin neoplasm" EXACT [] synonym: "zone of skin neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "zone of skin tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "zone of skin tumour" EXACT OMO:0003005 [] xref: DOID:3165 {source="MONDO:equivalentTo"} xref: EFO:0004198 {source="MONDO:equivalentTo"} xref: ICD9:239.2 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -39557,9 +40407,12 @@ name: squamous cell neoplasm def: "A neoplasm that is composed of squamous epithelial cells. Squamous cell carcinoma is a representative example." [NCIT:C3792] synonym: "epidermoid cell neoplasm" EXACT [NCIT:C3792] synonym: "epidermoid cell tumor" EXACT [DOID:3168, NCIT:C3792] +synonym: "epidermoid cell tumour" EXACT OMO:0003005 [] synonym: "squamous cell neoplasm" EXACT [NCIT:C3792] synonym: "squamous cell tumor" EXACT [NCIT:C3792] synonym: "squamous cell tumor (qualifier value)" EXACT [DOID:3168] +synonym: "squamous cell tumour" EXACT OMO:0003005 [] +synonym: "squamous cell tumour (qualifier value)" EXACT OMO:0003005 [] xref: DOID:3168 {source="MONDO:equivalentTo"} xref: MESH:D018307 {source="DOID:3168", source="MONDO:equivalentTo"} xref: NCIT:C3792 {source="DOID:3168", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -39671,6 +40524,7 @@ name: childhood oligodendroglioma def: "An oligodendroglioma that arises from the central nervous system and occurs during childhood." [NCIT:C4045] synonym: "oligodendroglioma" BROAD [NCIT:C4045] synonym: "oligodendroglioma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] +synonym: "paediatric oligodendroglioma" EXACT OMO:0003005 [] synonym: "pediatric oligodendroglioma" EXACT [DOID:3183, MONDO:patterns/childhood, NCIT:C4045] xref: DOID:3183 {source="MONDO:equivalentTo"} xref: MESH:D009837 {source="DOID:3183"} @@ -39687,6 +40541,7 @@ def: "A oligodendroglioma that involves the spinal cord." [MONDO:patterns/locati synonym: "oligodendroglioma of spinal cord" EXACT [NCIT:C4535] synonym: "spinal cord oligodendroglioma" EXACT [MONDO:patterns/location, NCIT:C4535] synonym: "well differentiated spinal cord oligodendroglial tumor" EXACT [NCIT:C4535] +synonym: "well differentiated spinal cord oligodendroglial tumour" EXACT OMO:0003005 [] synonym: "well differentiated spinal cord oligodendroglioma" EXACT [DOID:3184, NCIT:C4535] xref: DOID:3184 {source="MONDO:equivalentTo"} xref: NCIT:C4535 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:3184"} @@ -39703,10 +40558,12 @@ name: spinal cord glioma def: "A neoplasm that arises from glial cells in the spinal cord. Representative examples include astrocytoma, oligodendroglioma, and ependymoma." [NCIT:C4534] synonym: "glial neoplasm spinal cord" EXACT [DOID:3185, NCIT:C4534] synonym: "glial tumor of spinal cord" EXACT [NCIT:C4534] +synonym: "glial tumour of spinal cord" EXACT OMO:0003005 [] synonym: "glioma of spinal cord" EXACT [DOID:3185] synonym: "malignant glioma of spinal cord" EXACT [MONDO:design_pattern] synonym: "spinal cord glial neoplasm" EXACT [NCIT:C4534] synonym: "spinal cord glial tumor" EXACT [NCIT:C4534] +synonym: "spinal cord glial tumour" EXACT OMO:0003005 [] synonym: "spinal cord glioma" EXACT [NCIT:C4534] synonym: "spinal cord malignant glioma" EXACT [MONDO:patterns/location] xref: DOID:3185 {source="MONDO:equivalentTo"} @@ -39728,6 +40585,7 @@ def: "An oligodendroglioma occurring during adulthood." [NCIT:C4014] synonym: "adult brain oligodendroglioma" NARROW [DOID:3186] synonym: "adult oligodendroglioma" EXACT [NCIT:C4014] synonym: "grade II adult oligodendroglial tumor" EXACT [DOID:3186, NCIT:C4014] +synonym: "grade II adult oligodendroglial tumour" EXACT OMO:0003005 [] synonym: "oligodendroglioma" BROAD [NCIT:C4014] synonym: "oligodendroglioma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] xref: DOID:3186 {source="MONDO:equivalentTo"} @@ -39834,10 +40692,11 @@ def: "A benign or malignant neoplasm arising from the perineural cells in the sh synonym: "neoplasm of nerve sheath" EXACT [NCIT:C4972] synonym: "neoplasm of the nerve sheath" EXACT [DOID:3193, NCIT:C4972] synonym: "nerve sheath neoplasm" EXACT [NCIT:C4972] -synonym: "nerve sheath tumor" EXACT [DOID:3193] -synonym: "nerve sheath tumor" EXACT [NCIT:C4972] +synonym: "nerve sheath tumor" EXACT [DOID:3193, NCIT:C4972] +synonym: "nerve sheath tumour" EXACT OMO:0003005 [] synonym: "peripheral nerve sheath neoplasm" EXACT [] synonym: "tumor of nerve sheath" EXACT [NCIT:C4972] +synonym: "tumour of nerve sheath" EXACT OMO:0003005 [] xref: DOID:3193 {source="MONDO:equivalentTo"} xref: MESH:D018317 {source="MONDO:equivalentTo", source="DOID:3193"} xref: NCIT:C4972 {source="MONDO:equivalentTo"} @@ -39902,6 +40761,8 @@ synonym: "hypoglossal nerve neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "hypoglossal nerve neoplasms" EXACT [NCIT:C5830] synonym: "hypoglossal nerve tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5830] synonym: "hypoglossal nerve tumors" EXACT [NCIT:C5830] +synonym: "hypoglossal nerve tumour" EXACT OMO:0003005 [] +synonym: "hypoglossal nerve tumours" EXACT OMO:0003005 [] synonym: "neoplasm of hypoglossal nerve" EXACT [MONDO:patterns/neoplasm, NCIT:C5830] synonym: "neoplasm of the hypoglossal nerve" EXACT [NCIT:C5830] synonym: "neoplasm of the twelfth cranial nerve" EXACT [NCIT:C5830] @@ -39910,12 +40771,19 @@ synonym: "tumor of hypoglossal nerve" EXACT [DOID:3198, MONDO:patterns/neoplasm, synonym: "tumor of the hypoglossal nerve" EXACT [NCIT:C5830] synonym: "tumor of the twelfth cranial nerve" EXACT [NCIT:C5830] synonym: "tumor of twelfth cranial nerve" EXACT [NCIT:C5830] +synonym: "tumour of hypoglossal nerve" EXACT OMO:0003005 [] +synonym: "tumour of the hypoglossal nerve" EXACT OMO:0003005 [] +synonym: "tumour of the twelfth cranial nerve" EXACT OMO:0003005 [] +synonym: "tumour of twelfth cranial nerve" EXACT OMO:0003005 [] synonym: "twelfth cranial nerve neoplasm" EXACT [NCIT:C5830] synonym: "twelfth cranial nerve neoplasms" EXACT [NCIT:C5830] synonym: "twelfth cranial nerve tumor" EXACT [NCIT:C5830] synonym: "twelfth cranial nerve tumors" EXACT [NCIT:C5830] +synonym: "twelfth cranial nerve tumour" EXACT OMO:0003005 [] +synonym: "twelfth cranial nerve tumours" EXACT OMO:0003005 [] synonym: "XIIth cranial nerve neoplasms" EXACT [NCIT:C5830] synonym: "XIIth cranial nerve tumors" EXACT [NCIT:C5830] +synonym: "XIIth cranial nerve tumours" EXACT OMO:0003005 [] xref: DOID:3198 {source="MONDO:equivalentTo"} xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C5830 {source="DOID:3198", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -39957,8 +40825,10 @@ name: cerebellopontine angle tumor def: "A neoplasm that affects the cerebellopontine angle. Representative examples include vestibular schwannoma and meningioma." [NCIT:P378] synonym: "C-P angle neoplasm" EXACT [NCIT:C5414] synonym: "C-P angle tumor" EXACT [NCIT:C5414] +synonym: "C-P angle tumour" EXACT OMO:0003005 [] synonym: "cerebellar Pontine angle neoplasm" EXACT [NCIT:C5414] synonym: "cerebellar Pontine angle tumor" EXACT [NCIT:C5414] +synonym: "cerebellar Pontine angle tumour" EXACT OMO:0003005 [] synonym: "cerebellopontine angle neoplasm" EXACT [NCIT:C5414] synonym: "cerebellopontine angle neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "cerebellopontine angle tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5414] @@ -39974,6 +40844,12 @@ synonym: "tumor of cerebellopontine angle" EXACT [MONDO:patterns/neoplasm, NCIT: synonym: "tumor of the C-P angle" EXACT [NCIT:C5414] synonym: "tumor of the cerebellar Pontine angle" EXACT [NCIT:C5414] synonym: "tumor of the cerebellopontine angle" EXACT [NCIT:C5414] +synonym: "tumour of C-P angle" EXACT OMO:0003005 [] +synonym: "tumour of cerebellar Pontine angle" EXACT OMO:0003005 [] +synonym: "tumour of cerebellopontine angle" EXACT OMO:0003005 [] +synonym: "tumour of the C-P angle" EXACT OMO:0003005 [] +synonym: "tumour of the cerebellar Pontine angle" EXACT OMO:0003005 [] +synonym: "tumour of the cerebellopontine angle" EXACT OMO:0003005 [] xref: DOID:3200 {source="MONDO:equivalentTo"} xref: NCIT:C5414 {source="DOID:3200", source="MONDO:equivalentTo"} xref: SCTID:126947009 {source="MONDO:equivalentTo"} @@ -40128,10 +41004,15 @@ name: jejunal somatostatinoma def: "A somatostatin-producing neuroendocrine tumor that arises from the jejunum. It is characterized by the presence of tubulo-glandular structures." [NCIT:P378] synonym: "Delta cell tumor of jejunum" EXACT [NCIT:C5787] synonym: "Delta cell tumor of the jejunum" EXACT [NCIT:C5787] +synonym: "Delta cell tumour of jejunum" EXACT OMO:0003005 [] +synonym: "Delta cell tumour of the jejunum" EXACT OMO:0003005 [] synonym: "jejunal delta cell somatostatin producing tumor" EXACT [DOID:3216] +synonym: "jejunal delta cell somatostatin producing tumour" EXACT OMO:0003005 [] synonym: "jejunal somatostatin producing tumor" EXACT [NCIT:C5787] +synonym: "jejunal somatostatin producing tumour" EXACT OMO:0003005 [] synonym: "jejunal somatostatin-producing NET" EXACT [NCIT:C5787] synonym: "jejunal somatostatin-producing neuroendocrine tumor" EXACT [NCIT:C5787] +synonym: "jejunal somatostatin-producing neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "Somatosatinoma of jejunum" EXACT [DOID:3216, NCIT:C5787] synonym: "Somatosatinoma of the jejunum" EXACT [NCIT:C5787] xref: DOID:3216 {source="MONDO:equivalentTo"} @@ -40145,13 +41026,17 @@ id: MONDO:0002564 name: jejunal neoplasm def: "A benign or malignant neoplasm that affects the wall of the jejunum. Representative examples include adenoma, carcinoma, and lymphoma." [NCIT:P378] synonym: "jejunal tumor" EXACT [DOID:3218, NCIT:C8401] +synonym: "jejunal tumour" EXACT OMO:0003005 [] synonym: "jejunum neoplasm" EXACT [] synonym: "jejunum neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "jejunum tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "jejunum tumour" EXACT OMO:0003005 [] synonym: "neoplasm of jejunum" EXACT [DOID:3218, MONDO:patterns/neoplasm] synonym: "neoplasm of the jejunum" EXACT [NCIT:C8401] synonym: "tumor of jejunum" EXACT [DOID:3218, MONDO:patterns/neoplasm] synonym: "tumor of the jejunum" EXACT [NCIT:C8401] +synonym: "tumour of jejunum" EXACT OMO:0003005 [] +synonym: "tumour of the jejunum" EXACT OMO:0003005 [] xref: DOID:3218 {source="MONDO:equivalentTo"} xref: MESH:D007580 {source="MONDO:equivalentTo", source="DOID:3218"} xref: NCIT:C8401 {source="MONDO:equivalentTo", source="DOID:3218"} @@ -40527,11 +41412,15 @@ synonym: "malignant neoplasm of thymus" EXACT [MONDO:patterns/cancer] synonym: "malignant Thymus neoplasm" EXACT [NCIT:C4962] synonym: "malignant thymus neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant Thymus tumor" EXACT [NCIT:C4962] +synonym: "malignant Thymus tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of the Thymus" EXACT [NCIT:C4962] synonym: "malignant tumor of Thymus" EXACT [NCIT:C4962] +synonym: "malignant tumour of the Thymus" EXACT OMO:0003005 [] +synonym: "malignant tumour of Thymus" EXACT OMO:0003005 [] synonym: "neoplasm of thymus" RELATED EXCLUDE [DOID:3277] synonym: "thymic neoplasm" BROAD [DOID:3277] synonym: "thymic tumor" BROAD [DOID:3277, NCIT:C3412] +synonym: "thymic tumour" BROAD OMO:0003005 [] synonym: "Thymus cancer" EXACT [NCIT:C4962] synonym: "thymus cancer" EXACT [MONDO:patterns/location] xref: DOID:3277 {source="MONDO:equivalentTo"} @@ -40564,6 +41453,7 @@ subset: ordo_histopathological_subtype {source="Orphanet:263310"} synonym: "medullary thymoma" EXACT [DOID:3279, NCIT:C6454] synonym: "primary thymic epithelial neoplasm type A" EXACT [Orphanet:263310] synonym: "primary thymic epithelial tumor type A" EXACT [Orphanet:263310] +synonym: "primary thymic epithelial tumour type A" EXACT OMO:0003005 [] synonym: "spindle cell thymoma" EXACT [NCIT:C6454] synonym: "thymoma type A" EXACT [MONDO:0016973, NCIT:C6454] synonym: "thymoma, medullary" EXACT [DOID:3279] @@ -40672,10 +41562,12 @@ synonym: "neoplasm of notochord" EXACT [MONDO:patterns/neoplasm] synonym: "notochord cancer" EXACT [MONDO:patterns/location] synonym: "notochord neoplasm" EXACT [] synonym: "notochord tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "notochord tumour" EXACT OMO:0003005 [] synonym: "notochordal cancer" RELATED [DOID:3303] synonym: "notochordal neoplasm" EXACT [NCIT:C7063] synonym: "notochordal tumor" EXACT [DOID:3303, NCIT:C7063] synonym: "tumor of notochord" EXACT [MONDO:patterns/neoplasm] +synonym: "tumour of notochord" EXACT OMO:0003005 [] xref: DOID:3303 {source="MONDO:equivalentTo"} xref: NCIT:C7063 {source="MONDO:equivalentTo", source="DOID:3303"} xref: UMLS:C1335069 {source="MONDO:equivalentTo", source="DOID:3303", source="NCIT:C7063"} @@ -40807,8 +41699,10 @@ def: "A benign or malignant mesenchymal neoplasm arising from the perivascular c synonym: "malignant perivascular cancer" NARROW [DOID:3316] synonym: "Pericytic neoplasm" EXACT [NCIT:C6528] synonym: "Pericytic tumor" EXACT [NCIT:C6528] +synonym: "Pericytic tumour" EXACT OMO:0003005 [] synonym: "perivascular neoplasm" EXACT [NCIT:C6528] synonym: "perivascular tumor" EXACT [NCIT:C6528] +synonym: "perivascular tumour" EXACT OMO:0003005 [] xref: DOID:3316 {source="MONDO:equivalentTo"} xref: NCIT:C6528 {source="MONDO:equivalentTo", source="DOID:3316"} xref: NCIT:C6530 {source="DOID:3316"} @@ -40965,10 +41859,13 @@ id: MONDO:0002616 name: mesenchymal cell neoplasm def: "A benign, intermediate, or malignant neoplasm that arises from the mesenchyma-derived cells of the soft tissue or bone. Representative examples include lipoma, leiomyoma, leiomyosarcoma and osteosarcoma." [NCIT:C7059] synonym: "benign miscellaneous mesenchymal tumor" EXACT [DOID:3350] +synonym: "benign miscellaneous mesenchymal tumour" EXACT OMO:0003005 [] synonym: "mesenchymal cell neoplasm" EXACT [NCIT:C7059] synonym: "mesenchymal cell tumor" EXACT [NCIT:C7059] +synonym: "mesenchymal cell tumour" EXACT OMO:0003005 [] synonym: "mesenchymal neoplasm" EXACT [NCIT:C7059] synonym: "mesenchymal tumor" EXACT [DOID:3350, NCIT:C7059] +synonym: "mesenchymal tumour" EXACT OMO:0003005 [] xref: DOID:3350 {source="MONDO:equivalentTo"} xref: NCIT:C6587 {source="DOID:3350"} xref: NCIT:C7059 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:3350"} @@ -41039,8 +41936,10 @@ relationship: excluded_subClassOf MONDO:0009807 {source="DOID:3354"} ! osteosarc id: MONDO:0002620 name: localized osteosarcoma def: "A non-disseminated osteosarcoma." [NCIT:C7780] +synonym: "localised osteogenic sarcoma" EXACT OMO:0003005 [] synonym: "localized osteogenic sarcoma" EXACT [DOID:3356, NCIT:C7780] synonym: "localized osteosarcoma" EXACT [NCIT:C7780] +synonym: "osteosarcoma, localised" EXACT OMO:0003005 [] synonym: "osteosarcoma, localized" EXACT [NCIT:C7780] xref: DOID:3356 {source="MONDO:equivalentTo"} xref: NCIT:C7780 {source="DOID:3356", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -41085,6 +41984,7 @@ synonym: "childhood osteosarcoma" EXACT [NCIT:C6585] synonym: "childhood osteosarcoma (disease)" EXACT [] synonym: "osteosarcoma" BROAD [NCIT:C6585] synonym: "osteosarcoma (disease) of childhood" EXACT [MONDO:patterns/childhood] +synonym: "paediatric osteosarcoma (disease)" EXACT OMO:0003005 [] synonym: "pediatric osteosarcoma" EXACT [NCIT:C6585] synonym: "pediatric osteosarcoma (disease)" EXACT [MONDO:patterns/childhood] xref: DOID:3361 {source="MONDO:equivalentTo"} @@ -41117,6 +42017,8 @@ name: Ewing sarcoma of bone def: "A small round cell bone tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It often affects the diaphysis or metaphyseal-diaphyseal portion of long bones. Clinical findings include pain and a mass in the involved area. fever, anemia, leukocytosis, and an increased sedimentation rate are often seen. X-ray examination reveals osteolytic lesions. The prognosis depends on the stage, anatomic location, and size of the tumor." [NCIT:C4835] synonym: "bone Ewing sarcoma" EXACT [DOID:3368] synonym: "bone Ewing's sarcoma" EXACT [DOID:3368, NCIT:C4835] +synonym: "bone localised Ewing sarcoma" EXACT OMO:0003005 [] +synonym: "bone localised Ewing's sarcoma" EXACT OMO:0003005 [] synonym: "bone localized Ewing sarcoma" EXACT [DOID:3368] synonym: "bone localized Ewing's sarcoma" EXACT [DOID:3368] synonym: "bone tissue Ewing sarcoma" EXACT [MONDO:patterns/location] @@ -41124,11 +42026,15 @@ synonym: "Ewing sarcoma of bone" EXACT [NCIT:C4835] synonym: "Ewing's sarcoma of bone" EXACT [DOID:3368, NCIT:C4835] synonym: "Ewing's sarcoma, osseous" EXACT [NCIT:C4835] synonym: "Ewing's sarcoma/bone peripheral primitive neuroectodermal tumor" EXACT [DOID:3368] +synonym: "Ewing's sarcoma/bone peripheral primitive neuroectodermal tumour" EXACT OMO:0003005 [] +synonym: "localised skeletal Ewing's sarcoma" EXACT OMO:0003005 [] synonym: "localized skeletal Ewing's sarcoma" EXACT [DOID:3368, NCIT:C6623] synonym: "osseous Ewing's sarcoma" EXACT [NCIT:C4835] synonym: "osseous Ewing's tumor" EXACT [NCIT:C4835] +synonym: "osseous Ewing's tumour" EXACT OMO:0003005 [] synonym: "skeletal Ewing's sarcoma" EXACT [NCIT:C4835] synonym: "skeletal Ewing's tumor" EXACT [DOID:3368, NCIT:C4835] +synonym: "skeletal Ewing's tumour" EXACT OMO:0003005 [] xref: DOID:3368 {source="MONDO:equivalentTo"} xref: ICD9:170.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C35871 {source="DOID:3368"} @@ -41152,10 +42058,13 @@ synonym: "accessory nerve neoplasm" EXACT [NCIT:C5829] synonym: "accessory XI nerve spinal component neoplasm" EXACT [] synonym: "accessory XI nerve spinal component neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "accessory XI nerve spinal component tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "accessory XI nerve spinal component tumour" EXACT OMO:0003005 [] synonym: "eleventh cranial nerve neoplasm" EXACT [NCIT:C5829] synonym: "eleventh cranial nerve neoplasms" EXACT [NCIT:C5829] synonym: "eleventh cranial nerve tumor" EXACT [NCIT:C5829] synonym: "eleventh cranial nerve tumors" EXACT [NCIT:C5829] +synonym: "eleventh cranial nerve tumour" EXACT OMO:0003005 [] +synonym: "eleventh cranial nerve tumours" EXACT OMO:0003005 [] synonym: "neoplasm of accessory nerve" EXACT [DOID:337] synonym: "neoplasm of accessory XI nerve spinal component" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of eleventh cranial nerve" EXACT [NCIT:C5829] @@ -41166,13 +42075,21 @@ synonym: "spinal accessory nerve neoplasm" EXACT [NCIT:C5829] synonym: "spinal accessory nerve neoplasms" EXACT [NCIT:C5829] synonym: "spinal accessory nerve tumor" EXACT [NCIT:C5829] synonym: "spinal accessory nerve tumors" EXACT [NCIT:C5829] +synonym: "spinal accessory nerve tumour" EXACT OMO:0003005 [] +synonym: "spinal accessory nerve tumours" EXACT OMO:0003005 [] synonym: "tumor of accessory XI nerve spinal component" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of eleventh cranial nerve" EXACT [NCIT:C5829] synonym: "tumor of spinal accessory nerve" EXACT [NCIT:C5829] synonym: "tumor of the eleventh cranial nerve" EXACT [NCIT:C5829] synonym: "tumor of the spinal accessory nerve" EXACT [NCIT:C5829] +synonym: "tumour of accessory XI nerve spinal component" EXACT OMO:0003005 [] +synonym: "tumour of eleventh cranial nerve" EXACT OMO:0003005 [] +synonym: "tumour of spinal accessory nerve" EXACT OMO:0003005 [] +synonym: "tumour of the eleventh cranial nerve" EXACT OMO:0003005 [] +synonym: "tumour of the spinal accessory nerve" EXACT OMO:0003005 [] synonym: "XIth cranial nerve neoplasms" EXACT [NCIT:C5829] synonym: "XIth cranial nerve tumors" EXACT [DOID:337, NCIT:C5829] +synonym: "XIth cranial nerve tumours" EXACT OMO:0003005 [] xref: DOID:337 {source="MONDO:equivalentTo"} xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C5829 {source="DOID:337", source="MONDO:equivalentTo"} @@ -41299,10 +42216,13 @@ synonym: "cranial nerve neoplasm" EXACT [NCIT:C2963] synonym: "cranial nerve neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "cranial nerve neoplasms" EXACT [NCIT:C2963] synonym: "cranial nerve tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C2963] +synonym: "cranial nerve tumour" EXACT OMO:0003005 [] synonym: "neoplasm of cranial nerve" EXACT [MONDO:patterns/neoplasm, NCIT:C2963] synonym: "neoplasm of the cranial nerve" EXACT [NCIT:C2963] synonym: "tumor of cranial nerve" EXACT [MONDO:patterns/neoplasm, NCIT:C2963] synonym: "tumor of the cranial nerve" EXACT [DOID:338, NCIT:C2963] +synonym: "tumour of cranial nerve" EXACT OMO:0003005 [] +synonym: "tumour of the cranial nerve" EXACT OMO:0003005 [] xref: DOID:338 {source="MONDO:equivalentObsolete"} xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D003390 {source="DOID:338", source="MONDO:equivalentTo"} @@ -41413,8 +42333,11 @@ synonym: "glossopharyngeal nerve neoplasm (disease)" EXACT [MONDO:patterns/locat synonym: "glossopharyngeal nerve neoplasms" EXACT [NCIT:C5828] synonym: "glossopharyngeal nerve tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5828] synonym: "glossopharyngeal nerve tumors" EXACT [NCIT:C5828] +synonym: "glossopharyngeal nerve tumour" EXACT OMO:0003005 [] +synonym: "glossopharyngeal nerve tumours" EXACT OMO:0003005 [] synonym: "IXth cranial nerve neoplasms" EXACT [NCIT:C5828] synonym: "IXth cranial nerve tumors" EXACT [NCIT:C5828] +synonym: "IXth cranial nerve tumours" EXACT OMO:0003005 [] synonym: "neoplasm of glossopharyngeal nerve" EXACT [MONDO:patterns/neoplasm, NCIT:C5828] synonym: "neoplasm of Ninth cranial nerve" EXACT [NCIT:C5828] synonym: "neoplasm of the glossopharyngeal nerve" EXACT [NCIT:C5828] @@ -41423,10 +42346,16 @@ synonym: "Ninth cranial nerve neoplasm" EXACT [NCIT:C5828] synonym: "Ninth cranial nerve neoplasms" EXACT [NCIT:C5828] synonym: "Ninth cranial nerve tumor" EXACT [NCIT:C5828] synonym: "Ninth cranial nerve tumors" EXACT [NCIT:C5828] +synonym: "Ninth cranial nerve tumour" EXACT OMO:0003005 [] +synonym: "Ninth cranial nerve tumours" EXACT OMO:0003005 [] synonym: "tumor of glossopharyngeal nerve" EXACT [DOID:3417, MONDO:patterns/neoplasm, NCIT:C5828] synonym: "tumor of Ninth cranial nerve" EXACT [NCIT:C5828] synonym: "tumor of the glossopharyngeal nerve" EXACT [NCIT:C5828] synonym: "tumor of the Ninth cranial nerve" EXACT [NCIT:C5828] +synonym: "tumour of glossopharyngeal nerve" EXACT OMO:0003005 [] +synonym: "tumour of Ninth cranial nerve" EXACT OMO:0003005 [] +synonym: "tumour of the glossopharyngeal nerve" EXACT OMO:0003005 [] +synonym: "tumour of the Ninth cranial nerve" EXACT OMO:0003005 [] xref: DOID:3417 {source="MONDO:equivalentTo"} xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C5828 {source="MONDO:equivalentTo", source="DOID:3417", source="MONDO:exact-label-match"} @@ -41469,6 +42398,7 @@ synonym: "cranial nerve II neoplasm" EXACT [] synonym: "cranial nerve II neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "cranial nerve II neoplasms" EXACT [NCIT:C4801] synonym: "cranial nerve II tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "cranial nerve II tumour" EXACT OMO:0003005 [] synonym: "neoplasm of cranial nerve II" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of optic nerve" EXACT [NCIT:C4801] synonym: "neoplasm of second cranial nerve" EXACT [NCIT:C4801] @@ -41479,15 +42409,21 @@ synonym: "neoplasms, second cranial nerve" EXACT [NCIT:C4801] synonym: "optic nerve neoplasm" EXACT [NCIT:C4801] synonym: "optic nerve neoplasms" EXACT [NCIT:C4801] synonym: "optic nerve tumor" EXACT [NCIT:C4801] +synonym: "optic nerve tumour" EXACT OMO:0003005 [] synonym: "second cranial nerve neoplasm" EXACT [NCIT:C4801] synonym: "second cranial nerve neoplasms" EXACT [NCIT:C4801] synonym: "second cranial nerve tumor" EXACT [NCIT:C4801] +synonym: "second cranial nerve tumour" EXACT OMO:0003005 [] synonym: "tumor of cranial nerve II" EXACT [MONDO:patterns/neoplasm] -synonym: "tumor of optic nerve" EXACT [DOID:3419] -synonym: "tumor of optic nerve" EXACT [NCIT:C4801] +synonym: "tumor of optic nerve" EXACT [DOID:3419, NCIT:C4801] synonym: "tumor of second cranial nerve" EXACT [DOID:3419, NCIT:C4801] synonym: "tumor of the optic nerve" EXACT [NCIT:C4801] synonym: "tumor of the second cranial nerve" EXACT [NCIT:C4801] +synonym: "tumour of cranial nerve II" EXACT OMO:0003005 [] +synonym: "tumour of optic nerve" EXACT OMO:0003005 [] +synonym: "tumour of second cranial nerve" EXACT OMO:0003005 [] +synonym: "tumour of the optic nerve" EXACT OMO:0003005 [] +synonym: "tumour of the second cranial nerve" EXACT OMO:0003005 [] xref: DOID:3419 {source="MONDO:equivalentTo"} xref: EFO:1001073 {source="MONDO:equivalentTo"} xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -41522,8 +42458,11 @@ synonym: "fourth cranial nerve neoplasm" EXACT [NCIT:C5825] synonym: "fourth cranial nerve neoplasms" EXACT [NCIT:C5825] synonym: "fourth cranial nerve tumor" EXACT [NCIT:C5825] synonym: "fourth cranial nerve tumors" EXACT [NCIT:C5825] +synonym: "fourth cranial nerve tumour" EXACT OMO:0003005 [] +synonym: "fourth cranial nerve tumours" EXACT OMO:0003005 [] synonym: "IVth cranial nerve neoplasms" EXACT [NCIT:C5825] synonym: "IVth cranial nerve tumors" EXACT [NCIT:C5825] +synonym: "IVth cranial nerve tumours" EXACT OMO:0003005 [] synonym: "neoplasm of fourth cranial nerve" EXACT [NCIT:C5825] synonym: "neoplasm of the fourth cranial nerve" EXACT [NCIT:C5825] synonym: "neoplasm of the trochlear nerve" EXACT [NCIT:C5825] @@ -41532,10 +42471,16 @@ synonym: "trochlear nerve neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "trochlear nerve neoplasms" EXACT [NCIT:C5825] synonym: "trochlear nerve tumor" EXACT [MONDO:patterns/neoplasm] synonym: "trochlear nerve tumors" EXACT [NCIT:C5825] +synonym: "trochlear nerve tumour" EXACT OMO:0003005 [] +synonym: "trochlear nerve tumours" EXACT OMO:0003005 [] synonym: "tumor of fourth cranial nerve" EXACT [NCIT:C5825] synonym: "tumor of the fourth cranial nerve" EXACT [NCIT:C5825] synonym: "tumor of the trochlear nerve" EXACT [NCIT:C5825] synonym: "tumor of trochlear nerve" EXACT [DOID:3421, MONDO:patterns/neoplasm, NCIT:C5825] +synonym: "tumour of fourth cranial nerve" EXACT OMO:0003005 [] +synonym: "tumour of the fourth cranial nerve" EXACT OMO:0003005 [] +synonym: "tumour of the trochlear nerve" EXACT OMO:0003005 [] +synonym: "tumour of trochlear nerve" EXACT OMO:0003005 [] xref: DOID:3421 {source="MONDO:equivalentTo"} xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C5825 {source="DOID:3421", source="MONDO:equivalentTo"} @@ -41873,11 +42818,15 @@ synonym: "cancer of iris" EXACT [MONDO:patterns/cancer] synonym: "iris cancer" EXACT [MONDO:patterns/location] synonym: "malignant iris neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant iris tumor" EXACT [NCIT:C4554] +synonym: "malignant iris tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of iris" EXACT [MONDO:patterns/cancer, NCIT:C4554] synonym: "malignant neoplasm of the iris" EXACT [DOID:3478, NCIT:C4554] synonym: "malignant tumor of iris" EXACT [DOID:3478] synonym: "malignant tumor of the iris" EXACT [NCIT:C4554] +synonym: "malignant tumour of iris" EXACT OMO:0003005 [] +synonym: "malignant tumour of the iris" EXACT OMO:0003005 [] synonym: "tumor of the iris" BROAD [DOID:3478, NCIT:C3142] +synonym: "tumour of the iris" BROAD OMO:0003005 [] xref: DOID:3478 {source="MONDO:equivalentTo"} xref: EFO:1000996 {source="MONDO:equivalentTo"} xref: MESH:D015811 {source="DOID:3478"} @@ -41902,12 +42851,17 @@ synonym: "malignant neoplasm of the uvea" EXACT [NCIT:C6105] synonym: "malignant neoplasm of uvea" EXACT [MONDO:patterns/cancer, NCIT:C6105] synonym: "malignant tumor of the uvea" EXACT [NCIT:C6105] synonym: "malignant tumor of uvea" EXACT [NCIT:C6105] +synonym: "malignant tumour of the uvea" EXACT OMO:0003005 [] +synonym: "malignant tumour of uvea" EXACT OMO:0003005 [] synonym: "malignant uvea neoplasm" EXACT [DOID:3479, MONDO:patterns/cancer, NCIT:C6105] synonym: "malignant uvea tumor" EXACT [NCIT:C6105] +synonym: "malignant uvea tumour" EXACT OMO:0003005 [] synonym: "malignant uveal neoplasm" EXACT [NCIT:C6105] synonym: "malignant uveal tumor" EXACT [DOID:3479, NCIT:C6105] +synonym: "malignant uveal tumour" EXACT OMO:0003005 [] synonym: "uvea cancer" EXACT [MONDO:patterns/location] synonym: "uveal tumor" BROAD [DOID:3479, NCIT:C3436] +synonym: "uveal tumour" BROAD OMO:0003005 [] xref: DOID:3479 {source="MONDO:equivalentTo"} xref: EFO:1001230 {source="MONDO:equivalentTo"} xref: MESH:D014604 {source="DOID:3479"} @@ -42260,12 +43214,18 @@ synonym: "malignant choroid plexus neoplasm" EXACT [MONDO:patterns/cancer, NCIT: synonym: "malignant choroid plexus neoplasms" EXACT [NCIT:C4533] synonym: "malignant choroid plexus tumor" EXACT [NCIT:C4533] synonym: "malignant choroid plexus tumors" EXACT [NCIT:C4533] +synonym: "malignant choroid plexus tumour" EXACT OMO:0003005 [] +synonym: "malignant choroid plexus tumours" EXACT OMO:0003005 [] synonym: "malignant neoplasm of choroid plexus" EXACT [MONDO:patterns/cancer, NCIT:C4533] synonym: "malignant neoplasm of the choroid plexus" EXACT [NCIT:C4533] synonym: "malignant tumor of choroid plexus" EXACT [NCIT:C4533] synonym: "malignant tumor of the choroid plexus" EXACT [NCIT:C4533] +synonym: "malignant tumour of choroid plexus" EXACT OMO:0003005 [] +synonym: "malignant tumour of the choroid plexus" EXACT OMO:0003005 [] synonym: "tumor of choroid plexus" BROAD [DOID:3540] synonym: "tumor of the choroid plexus" BROAD EXCLUDE [DOID:3540] +synonym: "tumour of choroid plexus" BROAD OMO:0003005 [] +synonym: "tumour of the choroid plexus" BROAD OMO:0003005 [] xref: DOID:3540 {source="MONDO:equivalentTo"} xref: MESH:D016545 {source="DOID:3540"} xref: NCIT:C3473 {source="DOID:3540"} @@ -42291,11 +43251,14 @@ synonym: "cerebral ventricle neoplasm" EXACT [DOID:3541] synonym: "intraventricular brain neoplasm" EXACT [NCIT:C2937] synonym: "intraventricular brain neoplasms" EXACT [NCIT:C2937] synonym: "intraventricular brain tumor" EXACT [NCIT:C2937] +synonym: "intraventricular brain tumour" EXACT OMO:0003005 [] synonym: "intraventricular neoplasm of brain" EXACT [NCIT:C2937] synonym: "intraventricular neoplasm of the brain" EXACT [NCIT:C2937] synonym: "intraventricular neoplasms" EXACT [NCIT:C2937] synonym: "intraventricular tumor of brain" EXACT [DOID:3541, NCIT:C2937] synonym: "intraventricular tumor of the brain" EXACT [NCIT:C2937] +synonym: "intraventricular tumour of brain" EXACT OMO:0003005 [] +synonym: "intraventricular tumour of the brain" EXACT OMO:0003005 [] synonym: "malignant brain ventricle neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of brain ventricle" EXACT [MONDO:patterns/cancer] xref: DOID:3541 {source="MONDO:equivalentTo"} @@ -42324,12 +43287,15 @@ def: "A choroid plexus neoplasm that occurs in an adult." [MONDO:design_pattern] synonym: "adult choroid plexus cancer" RELATED [DOID:3542] synonym: "adult choroid plexus neoplasm" EXACT [NCIT:C8568] synonym: "adult choroid plexus tumor" EXACT [DOID:3542, NCIT:C8568] +synonym: "adult choroid plexus tumour" EXACT OMO:0003005 [] synonym: "choroid plexus neoplasm" BROAD [NCIT:C8568] synonym: "choroid plexus neoplasm of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] synonym: "neoplasm of adult choroid plexus" EXACT [NCIT:C8568] synonym: "neoplasm of the adult choroid plexus" EXACT [DOID:3542, NCIT:C8568] synonym: "tumor of adult choroid plexus" EXACT [NCIT:C8568] synonym: "tumor of the adult choroid plexus" EXACT [NCIT:C8568] +synonym: "tumour of adult choroid plexus" EXACT OMO:0003005 [] +synonym: "tumour of the adult choroid plexus" EXACT OMO:0003005 [] xref: DOID:3542 {source="MONDO:equivalentTo"} xref: NCIT:C8568 {source="DOID:3542", source="MONDO:equivalentTo"} xref: UMLS:C0796430 {source="DOID:3542", source="MONDO:equivalentTo", source="NCIT:C8568"} @@ -42366,6 +43332,7 @@ synonym: "childhood choroid plexus cancer" RELATED [DOID:3545] synonym: "childhood choroid plexus carcinoma" EXACT [NCIT:C124292] synonym: "childhood choroid plexus neoplasm" BROAD [DOID:3545] synonym: "choroid plexus carcinoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] +synonym: "paediatric choroid plexus carcinoma" EXACT OMO:0003005 [] synonym: "pediatric choroid plexus carcinoma" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] xref: DOID:3545 {source="MONDO:equivalentTo"} xref: NCIT:C124292 {source="MONDO:equivalentTo"} @@ -42451,6 +43418,7 @@ synonym: "malignant neoplasm of liver" EXACT [DOID:3571, MONDO:patterns/cancer] synonym: "malignant neoplasm of liver, not specified as primary or secondary" EXACT [DOID:3571, ICD9CM:155.2] synonym: "malignant neoplasm of liver, primary" EXACT [DOID:3571, ICD9CM:155.0] synonym: "malignant tumor of liver" EXACT [DOID:3571] +synonym: "malignant tumour of liver" EXACT OMO:0003005 [] synonym: "neoplasm of liver" RELATED EXCLUDE [DOID:3571] synonym: "non-resectable primary hepatic malignant neoplasm" EXACT [DOID:3571] synonym: "primary cancer of liver" RELATED [GARD:0006608] @@ -42458,6 +43426,7 @@ synonym: "primary liver cancer" EXACT [DOID:3571] synonym: "primary malignant liver neoplasm" EXACT [NCIT:C34803] synonym: "primary malignant neoplasm of liver" EXACT [DOID:3571, NCIT:C34803] synonym: "primary tumor of the liver" RELATED [GARD:0006608] +synonym: "primary tumour of the liver" RELATED OMO:0003005 [] synonym: "Resectable malignant neoplasm of liver" EXACT [DOID:3571, NCIT:C7692] synonym: "resectable malignant neoplasm of the liver" EXACT [DOID:3571] xref: DOID:3571 {source="MONDO:equivalentTo"} @@ -42806,19 +43775,27 @@ def: "A primary or metastatic neoplasm that involves the space between the verte synonym: "epidural neoplasm" EXACT [NCIT:C3019] synonym: "epidural space neoplasm" EXACT [] synonym: "epidural space tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "epidural space tumour" EXACT OMO:0003005 [] synonym: "epidural spinal canal neoplasm" EXACT [NCIT:C3019] synonym: "epidural spinal canal tumor" EXACT [NCIT:C3019] synonym: "epidural spinal canal tumors" EXACT [NCIT:C3019] +synonym: "epidural spinal canal tumour" EXACT OMO:0003005 [] +synonym: "epidural spinal canal tumours" EXACT OMO:0003005 [] synonym: "epidural spinal neoplasms" EXACT [NCIT:C3019] synonym: "epidural spinal tumors" EXACT [NCIT:C3019] +synonym: "epidural spinal tumours" EXACT OMO:0003005 [] synonym: "epidural tumor" EXACT [NCIT:C3019] +synonym: "epidural tumour" EXACT OMO:0003005 [] synonym: "extradural neoplasm" EXACT [NCIT:C3019] synonym: "extradural spinal canal neoplasm" EXACT [NCIT:C3019] synonym: "extradural spinal canal neoplasms" EXACT [NCIT:C3019] synonym: "extradural spinal canal tumor" EXACT [NCIT:C3019] +synonym: "extradural spinal canal tumour" EXACT OMO:0003005 [] synonym: "extradural spinal neoplasms" EXACT [NCIT:C3019] synonym: "extradural spinal tumors" EXACT [NCIT:C3019] +synonym: "extradural spinal tumours" EXACT OMO:0003005 [] synonym: "extradural tumor" EXACT [DOID:3618, NCIT:C3019] +synonym: "extradural tumour" EXACT OMO:0003005 [] synonym: "neoplasm of epidural space" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of epidural spinal canal" EXACT [NCIT:C3019] synonym: "neoplasm of extradural spinal canal" EXACT [NCIT:C3019] @@ -42829,6 +43806,11 @@ synonym: "tumor of epidural spinal canal" EXACT [NCIT:C3019] synonym: "tumor of extradural spinal canal" EXACT [NCIT:C3019] synonym: "tumor of the epidural spinal canal" EXACT [NCIT:C3019] synonym: "tumor of the extradural spinal canal" EXACT [NCIT:C3019] +synonym: "tumour of epidural space" EXACT OMO:0003005 [] +synonym: "tumour of epidural spinal canal" EXACT OMO:0003005 [] +synonym: "tumour of extradural spinal canal" EXACT OMO:0003005 [] +synonym: "tumour of the epidural spinal canal" EXACT OMO:0003005 [] +synonym: "tumour of the extradural spinal canal" EXACT OMO:0003005 [] xref: DOID:3618 {source="MONDO:equivalentTo"} xref: EFO:1000923 {source="MONDO:equivalentTo"} xref: MESH:D015174 {source="MONDO:equivalentTo", source="DOID:3618"} @@ -42850,15 +43832,19 @@ synonym: "central nervous system cancer" EXACT [MONDO:patterns/location, NCIT:C4 synonym: "central nervous system neoplasms, malignant" EXACT [NCIT:C4627] synonym: "central nervous system tumor" BROAD [DOID:3620] synonym: "central nervous system tumors" EXACT [DOID:3620] +synonym: "central nervous system tumour" BROAD OMO:0003005 [] +synonym: "central nervous system tumours" EXACT OMO:0003005 [] synonym: "CNS cancer" EXACT [NCIT:C4627] synonym: "CNS malignant neoplasms" EXACT [NCIT:C4627] synonym: "CNS neoplasm" BROAD [DOID:3620] synonym: "CNS neoplasms, malignant" EXACT [NCIT:C4627] synonym: "malignant central nervous system neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4627] synonym: "malignant central nervous system tumor" EXACT [NCIT:C4627] +synonym: "malignant central nervous system tumour" EXACT OMO:0003005 [] synonym: "malignant CNS neoplasm" EXACT [NCIT:C4627] synonym: "malignant CNS neoplasms" EXACT [NCIT:C4627] synonym: "malignant CNS tumor" EXACT [NCIT:C4627] +synonym: "malignant CNS tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of central nervous system" EXACT [MONDO:patterns/cancer, NCIT:C4627] synonym: "malignant neoplasm of central nervous system, NOS" RELATED EXCLUDE [DOID:3620] synonym: "malignant neoplasm of CNS" EXACT [NCIT:C4627] @@ -42868,6 +43854,10 @@ synonym: "malignant tumor of central nervous system" EXACT [NCIT:C4627] synonym: "malignant tumor of CNS" EXACT [DOID:3620, NCIT:C4627] synonym: "malignant tumor of the central nervous system" EXACT [NCIT:C4627] synonym: "malignant tumor of the CNS" EXACT [NCIT:C4627] +synonym: "malignant tumour of central nervous system" EXACT OMO:0003005 [] +synonym: "malignant tumour of CNS" EXACT OMO:0003005 [] +synonym: "malignant tumour of the central nervous system" EXACT OMO:0003005 [] +synonym: "malignant tumour of the CNS" EXACT OMO:0003005 [] synonym: "neoplasm of central nervous system" RELATED EXCLUDE [DOID:3620] xref: DOID:3620 {source="MONDO:equivalentTo"} xref: EFO:0000326 {source="DOID:3620", source="MONDO:equivalentTo"} @@ -42898,14 +43888,19 @@ synonym: "malignant neoplasm of the uterus" EXACT [NCIT:C3552] synonym: "malignant neoplasm of uterus" EXACT [DOID:363, MONDO:patterns/cancer, NCIT:C3552] synonym: "malignant tumor of the uterus" EXACT [NCIT:C3552] synonym: "malignant tumor of uterus" EXACT [NCIT:C3552] +synonym: "malignant tumour of the uterus" EXACT OMO:0003005 [] +synonym: "malignant tumour of uterus" EXACT OMO:0003005 [] synonym: "malignant uterine neoplasm" EXACT [NCIT:C3552] synonym: "malignant uterine tumor" EXACT [DOID:363, NCIT:C3552] +synonym: "malignant uterine tumour" EXACT OMO:0003005 [] synonym: "malignant uterus neoplasm" EXACT [MONDO:patterns/cancer] synonym: "neoplasm of uterus" BROAD [DOID:363] synonym: "tumor of uterus" BROAD [DOID:363] +synonym: "tumour of uterus" BROAD OMO:0003005 [] synonym: "uterine cancer" EXACT [NCIT:C3552] synonym: "uterine cancer, NOS" RELATED EXCLUDE [NCIT:C3552] synonym: "uterine tumor" BROAD [DOID:363, NCIT:C3435] +synonym: "uterine tumour" BROAD OMO:0003005 [] synonym: "uterus cancer" EXACT [MONDO:patterns/location] synonym: "uterus neoplasm" BROAD [DOID:363] xref: DOID:363 {source="MONDO:equivalentTo"} @@ -42934,6 +43929,7 @@ id: MONDO:0002716 name: childhood spinal cord tumor def: "A benign or malignant neoplasm affecting the spinal cord during childhood." [NCIT:P378] synonym: "childhood spinal cord neoplasm" EXACT [DOID:3637, NCIT:C9234] +synonym: "paediatric spinal cord neoplasm" EXACT OMO:0003005 [] synonym: "pediatric spinal cord neoplasm" EXACT [MONDO:patterns/childhood] synonym: "spinal cord neoplasm of childhood" EXACT [MONDO:patterns/childhood] xref: DOID:3637 {source="MONDO:equivalentTo"} @@ -42986,10 +43982,13 @@ def: "A neoplasm (disease) that involves the conus medullaris." [MONDO:patterns/ synonym: "conus medullaris neoplasm" EXACT [NCIT:C5443] synonym: "conus medullaris neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "conus medullaris tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5443] +synonym: "conus medullaris tumour" EXACT OMO:0003005 [] synonym: "neoplasm of conus medullaris" EXACT [MONDO:patterns/neoplasm, NCIT:C5443] synonym: "neoplasm of the conus medullaris" EXACT [NCIT:C5443] synonym: "tumor of conus medullaris" EXACT [DOID:3641, MONDO:patterns/neoplasm, NCIT:C5443] synonym: "tumor of the conus medullaris" EXACT [NCIT:C5443] +synonym: "tumour of conus medullaris" EXACT OMO:0003005 [] +synonym: "tumour of the conus medullaris" EXACT OMO:0003005 [] xref: DOID:3641 {source="MONDO:equivalentTo"} xref: NCIT:C5443 {source="DOID:3641", source="MONDO:equivalentTo"} xref: UMLS:C1333153 {source="DOID:3641", source="MONDO:equivalentTo", source="NCIT:C5443"} @@ -43006,11 +44005,15 @@ synonym: "neoplasm of sella turcica" EXACT [NCIT:C4944] synonym: "neoplasm of the sella turcica" EXACT [NCIT:C4944] synonym: "sella turcica neoplasm" EXACT [NCIT:C4944] synonym: "sella turcica tumor" EXACT [NCIT:C4944] +synonym: "sella turcica tumour" EXACT OMO:0003005 [] synonym: "sellar neoplasm" EXACT [NCIT:C4944] synonym: "sellar tumor" EXACT [NCIT:C4944] +synonym: "sellar tumour" EXACT OMO:0003005 [] synonym: "selt" RELATED [ONCOTREE:SELT] synonym: "tumor of sella turcica" EXACT [DOID:3643, NCIT:C4944] synonym: "tumor of the sella turcica" EXACT [NCIT:C4944] +synonym: "tumour of sella turcica" EXACT OMO:0003005 [] +synonym: "tumour of the sella turcica" EXACT OMO:0003005 [] xref: DOID:3643 {source="MONDO:equivalentTo"} xref: NCIT:C4944 {source="DOID:3643", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: ONCOTREE:SELT {source="MONDO:equivalentTo"} @@ -43037,6 +44040,7 @@ synonym: "cranial nerve I neoplasms" EXACT [NCIT:C5121] synonym: "first cranial nerve neoplasm" EXACT [NCIT:C5121] synonym: "first cranial nerve neoplasms" EXACT [NCIT:C5121] synonym: "first cranial nerve tumor" EXACT [NCIT:C5121] +synonym: "first cranial nerve tumour" EXACT OMO:0003005 [] synonym: "neoplasm of first cranial nerve" EXACT [NCIT:C5121] synonym: "neoplasm of olfactory nerve" EXACT [MONDO:patterns/neoplasm, NCIT:C5121] synonym: "neoplasm of the first cranial nerve" EXACT [NCIT:C5121] @@ -43047,12 +44051,18 @@ synonym: "olfactory nerve neoplasm" EXACT [NCIT:C5121] synonym: "olfactory nerve neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "olfactory nerve neoplasms" EXACT [NCIT:C5121] synonym: "olfactory nerve tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5121] +synonym: "olfactory nerve tumour" EXACT OMO:0003005 [] synonym: "olfactory neural neoplasm" EXACT [NCIT:C5121] synonym: "olfactory neural tumor" EXACT [DOID:8256, NCIT:C5121] +synonym: "olfactory neural tumour" EXACT OMO:0003005 [] synonym: "tumor of first cranial nerve" EXACT [NCIT:C5121] synonym: "tumor of olfactory nerve" EXACT [DOID:366, MONDO:patterns/neoplasm, NCIT:C5121] synonym: "tumor of the first cranial nerve" EXACT [NCIT:C5121] synonym: "tumor of the olfactory nerve" EXACT [NCIT:C5121] +synonym: "tumour of first cranial nerve" EXACT OMO:0003005 [] +synonym: "tumour of olfactory nerve" EXACT OMO:0003005 [] +synonym: "tumour of the first cranial nerve" EXACT OMO:0003005 [] +synonym: "tumour of the olfactory nerve" EXACT OMO:0003005 [] xref: DOID:366 {source="MONDO:equivalentObsolete"} xref: DOID:8256 {source="MONDO:equivalentTo"} xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -43080,11 +44090,15 @@ synonym: "mast cell neoplasm" EXACT [NCIT:C9295] synonym: "Mast cell proliferative disease" EXACT [DOID:3664, NCIT:C9295] synonym: "Mast cell tumor" EXACT [NCIT:C9295] synonym: "mast cell tumor" EXACT [DOID:3664, NCIT:C9295] +synonym: "Mast cell tumour" EXACT OMO:0003005 [] +synonym: "mast cell tumour" EXACT OMO:0003005 [] synonym: "mastocytoma" RELATED EXCLUDE [DOID:3664] synonym: "neoplasm of Mast cells" EXACT [NCIT:C9295] synonym: "neoplasm of the Mast cells" EXACT [NCIT:C9295] synonym: "tumor of Mast cells" EXACT [NCIT:C9295] synonym: "tumor of the Mast cells" EXACT [NCIT:C9295] +synonym: "tumour of Mast cells" EXACT OMO:0003005 [] +synonym: "tumour of the Mast cells" EXACT OMO:0003005 [] xref: DOID:3664 {source="MONDO:equivalentTo"} xref: EFO:0009000 {source="MONDO:equivalentTo"} xref: ICD10CM:D47.0 {source="DOID:3664"} @@ -43153,8 +44167,8 @@ id: MONDO:0002728 name: rhabdoid tumor def: "An aggressive malignant embryonal neoplasm usually occurring during childhood. It is characterized by the presence of large cells with abundant cytoplasm, large eccentric nucleus, and a prominent nucleolus and it is associated with abnormalities of chromosome 22. It can arise from the central nervous system, kidney, and the soft tissues. The prognosis is poor." [NCIT:C3808] subset: ordo_disease {source="Orphanet:69077"} -synonym: "malignant rhabdoid tumor" EXACT [DOID:3672, MONDO:0005548] -synonym: "malignant rhabdoid tumor" EXACT [Orphanet:69077] +synonym: "malignant rhabdoid tumor" EXACT [DOID:3672, MONDO:0005548, Orphanet:69077] +synonym: "malignant rhabdoid tumour" EXACT OMO:0003005 [] synonym: "rhabdoid cancer" RELATED [DOID:3672] synonym: "rhabdoid sarcoma" EXACT [DOID:3672, NCIT:C3808] synonym: "rhabdoid tumor" EXACT [DOID:3672, MONDO:0019069, NCIT:C3808] @@ -43178,17 +44192,22 @@ name: rhabdoid tumor of the kidney def: "A rhabdoid tumor that arises from the kidney. It occurs in children and it is associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. The prognosis is poor." [NCIT:C8715] synonym: "kidney rhabdoid cancer" RELATED [DOID:3674] synonym: "kidney rhabdoid tumor" EXACT [DOID:3674, MONDO:patterns/location, NCIT:C8715] +synonym: "kidney rhabdoid tumour" EXACT OMO:0003005 [] synonym: "malignant rhabdoid tumor of kidney" EXACT [NCIT:C8715] synonym: "malignant rhabdoid tumor of the kidney" EXACT [NCIT:C8715] +synonym: "malignant rhabdoid tumour of kidney" EXACT OMO:0003005 [] +synonym: "malignant rhabdoid tumour of the kidney" EXACT OMO:0003005 [] synonym: "MRTK" EXACT ABBREVIATION [NCIT:C8715] synonym: "renal rhabdoid neoplasm" EXACT [NCIT:C8715] synonym: "renal rhabdoid tumor" EXACT [DOID:3674, NCIT:C8715] +synonym: "renal rhabdoid tumour" EXACT OMO:0003005 [] synonym: "rhabdoid neoplasm of kidney" EXACT [NCIT:C8715] synonym: "rhabdoid neoplasm of the kidney" EXACT [NCIT:C8715] synonym: "rhabdoid tumor of kidney" EXACT [NCIT:C8715] synonym: "rhabdoid tumor of the kidney" EXACT [MONDO:0006399, NCIT:C8715] -synonym: "rhabdoid tumor of the kidney" EXACT [NCIT:C8715] synonym: "rhabdoid tumor of the kidney (RTK)" EXACT [NCIT:C8715] +synonym: "rhabdoid tumour of kidney" EXACT OMO:0003005 [] +synonym: "rhabdoid tumour of the kidney (RTK)" EXACT OMO:0003005 [] xref: DOID:3674 {source="MONDO:equivalentTo"} xref: EFO:1000512 {source="MONDO:equivalentTo"} xref: NCIT:C8715 {source="DOID:3674", source="MONDO:equivalentTo", source="EFO:1000512"} @@ -43203,10 +44222,16 @@ name: childhood kidney neoplasm def: "A kidney neoplasm that occurs during childhood." [MONDO:design_pattern] synonym: "childhood kidney neoplasm" EXACT [NCIT:C6563] synonym: "childhood kidney tumor" EXACT [NCIT:C6563] +synonym: "childhood kidney tumour" EXACT OMO:0003005 [] synonym: "childhood renal neoplasm" EXACT [NCIT:C6563] synonym: "childhood renal tumor" EXACT [NCIT:C6563] +synonym: "childhood renal tumour" EXACT OMO:0003005 [] synonym: "kidney neoplasm" BROAD [NCIT:C6563] synonym: "kidney neoplasm of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] +synonym: "paediatric kidney neoplasm" EXACT OMO:0003005 [] +synonym: "paediatric kidney tumour" EXACT OMO:0003005 [] +synonym: "paediatric renal neoplasm" EXACT OMO:0003005 [] +synonym: "paediatric renal tumour" EXACT OMO:0003005 [] synonym: "pediatric kidney neoplasm" EXACT [MONDO:patterns/childhood, NCIT:C6563] synonym: "pediatric kidney tumor" EXACT [NCIT:C6563] synonym: "pediatric renal neoplasm" EXACT [NCIT:C6563] @@ -43231,8 +44256,10 @@ synonym: "cerebrum cancer" RELATED [DOID:368] synonym: "malignant cerebral hemisphere neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant cerebral hemispheric neoplasm" EXACT [NCIT:C4577] synonym: "malignant cerebral hemispheric tumor" EXACT [NCIT:C4577] +synonym: "malignant cerebral hemispheric tumour" EXACT OMO:0003005 [] synonym: "malignant cerebral neoplasm" EXACT [NCIT:C4577] synonym: "malignant cerebral tumor" EXACT [NCIT:C4577] +synonym: "malignant cerebral tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of cerebral hemisphere" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of cerebral hemispheres" EXACT [NCIT:C4577] synonym: "malignant neoplasm of cerebrum" EXACT [NCIT:C4577] @@ -43244,9 +44271,14 @@ synonym: "malignant tumor of cerebral hemispheres" EXACT [NCIT:C4577] synonym: "malignant tumor of cerebrum" EXACT [NCIT:C4577] synonym: "malignant tumor of the cerebral hemispheres" EXACT [NCIT:C4577] synonym: "malignant tumor of the cerebrum" EXACT [NCIT:C4577] +synonym: "malignant tumour of cerebral hemispheres" EXACT OMO:0003005 [] +synonym: "malignant tumour of cerebrum" EXACT OMO:0003005 [] +synonym: "malignant tumour of the cerebral hemispheres" EXACT OMO:0003005 [] +synonym: "malignant tumour of the cerebrum" EXACT OMO:0003005 [] synonym: "neoplasm of cerebrum" RELATED EXCLUDE [DOID:368] synonym: "telencephalon cancer" EXACT [MONDO:patterns/location] synonym: "tumor of cerebrum" BROAD [DOID:368, NCIT:C4874] +synonym: "tumour of cerebrum" BROAD OMO:0003005 [] xref: DOID:368 {source="MONDO:equivalentTo"} xref: ICD9:191.8 {source="DOID:368"} xref: NCIT:C4577 {source="MONDO:equivalentTo"} @@ -43269,12 +44301,16 @@ name: lung benign neoplasm def: "A non-metastasizing neoplasm that arises from the lung parenchyma or the bronchi. Representative examples include lung adenoma, lung hamartoma, and endobronchial lipoma." [NCIT:C4454] synonym: "benign lung neoplasm" EXACT [NCIT:C4454] synonym: "benign lung tumor" EXACT [NCIT:C4454] +synonym: "benign lung tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of lung" EXACT [NCIT:C4454] synonym: "benign neoplasm of the lung" EXACT [NCIT:C4454] synonym: "benign tumor of lung" EXACT [NCIT:C4454] synonym: "benign tumor of the lung" EXACT [NCIT:C4454] +synonym: "benign tumour of lung" EXACT OMO:0003005 [] +synonym: "benign tumour of the lung" EXACT OMO:0003005 [] synonym: "lung benign neoplasm" EXACT [MONDO:patterns/location] synonym: "tumor of the lung" BROAD [DOID:3683, NCIT:C3200] +synonym: "tumour of the lung" BROAD OMO:0003005 [] xref: DOID:3683 {source="MONDO:equivalentTo"} xref: MESH:D008175 {source="DOID:3683"} xref: NCIT:C3200 {source="DOID:3683"} @@ -43792,7 +44828,9 @@ synonym: "esophageal verrucous cancer" EXACT [NCIT:C27420] synonym: "esophageal verrucous carcinoma" EXACT [NCIT:C27420] synonym: "esophagus verrucous carcinoma" EXACT [MONDO:patterns/location] synonym: "verrucous carcinoma of esophagus" EXACT [DOID:3747, NCIT:C27420] +synonym: "verrucous carcinoma of oesophagus" EXACT OMO:0003005 [] synonym: "verrucous carcinoma of the esophagus" EXACT [DOID:3747, NCIT:C27420] +synonym: "verrucous carcinoma of the oesophagus" EXACT OMO:0003005 [] xref: DOID:3747 {source="MONDO:equivalentTo"} xref: NCIT:C27420 {source="MONDO:equivalentTo", source="DOID:3747"} xref: UMLS:C1333470 {source="NCIT:C27420", source="MONDO:equivalentTo", source="DOID:3747"} @@ -44128,16 +45166,22 @@ def: "A benign or malignant neoplasm that affects the skull base." [NCIT:C4676] synonym: "basicranium neoplasm" EXACT [] synonym: "basicranium neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "basicranium tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "basicranium tumour" EXACT OMO:0003005 [] synonym: "neoplasm of basicranium" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of skull base" EXACT [NCIT:C4676] synonym: "neoplasm of the skull base" EXACT [NCIT:C4676] synonym: "skull base cancer" RELATED [DOID:3842] synonym: "skull base neoplasm" EXACT [NCIT:C4676] synonym: "skull base tumor" EXACT [NCIT:C4676] +synonym: "skull base tumour" EXACT OMO:0003005 [] synonym: "tumor of basicranium" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of skull base" EXACT [NCIT:C4676] synonym: "tumor of the skull base" EXACT [NCIT:C4676] synonym: "tumors of skull base" EXACT [DOID:3842, NCIT:C4676] +synonym: "tumour of basicranium" EXACT OMO:0003005 [] +synonym: "tumour of skull base" EXACT OMO:0003005 [] +synonym: "tumour of the skull base" EXACT OMO:0003005 [] +synonym: "tumours of skull base" EXACT OMO:0003005 [] xref: DOID:3842 {source="MONDO:equivalentTo"} xref: MESH:D019292 {source="MONDO:equivalentTo", source="DOID:3842"} xref: NCIT:C4676 {source="MONDO:equivalentTo", source="DOID:3842", source="MONDO:exact-label-match"} @@ -44156,9 +45200,11 @@ synonym: "diencephalon cancer" EXACT [MONDO:patterns/location] synonym: "malignant diencephalic neoplasm" EXACT [DOID:3843, NCIT:C5126] synonym: "malignant diencephalic neoplasms" EXACT [NCIT:C5126] synonym: "malignant diencephalic tumor" EXACT [DOID:3843, NCIT:C5126] +synonym: "malignant diencephalic tumour" EXACT OMO:0003005 [] synonym: "malignant diencephalon neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of diencephalon" EXACT [MONDO:patterns/cancer] synonym: "tumor of diencephalon" EXACT [DOID:3843, NCIT:C5125] +synonym: "tumour of diencephalon" EXACT OMO:0003005 [] xref: DOID:3843 {source="MONDO:equivalentTo"} xref: NCIT:C5125 {source="DOID:3843"} xref: NCIT:C5126 {source="DOID:3843", source="MONDO:equivalentTo"} @@ -44177,7 +45223,9 @@ synonym: "adamantinous craniopharyngioma (morphologic abnormality)" EXACT [DOID: synonym: "adamantinous neoplasm of Rathke's pouch" EXACT [NCIT:C4726] synonym: "adamantinous Rathke's pouch neoplasm" EXACT [NCIT:C4726] synonym: "adamantinous Rathke's pouch tumor" EXACT [DOID:3846, NCIT:C4726] +synonym: "adamantinous Rathke's pouch tumour" EXACT OMO:0003005 [] synonym: "adamantinous tumor of Rathke's pouch" EXACT [NCIT:C4726] +synonym: "adamantinous tumour of Rathke's pouch" EXACT OMO:0003005 [] synonym: "craniopharyngioma, adamantinomatous" EXACT [DOID:3846] xref: DOID:3846 {source="MONDO:equivalentTo"} xref: EFO:1000069 {source="MONDO:equivalentTo"} @@ -44200,7 +45248,9 @@ synonym: "papillary neoplasm of Rathke's pouch" EXACT [NCIT:C4725] synonym: "papillary Rathke pouch neoplasm" EXACT [NCIT:C4725] synonym: "papillary Rathke's pouch neoplasm" EXACT [NCIT:C4725] synonym: "papillary Rathke's pouch tumor" EXACT [DOID:3847, NCIT:C4725] +synonym: "papillary Rathke's pouch tumour" EXACT OMO:0003005 [] synonym: "papillary tumor of Rathke's pouch" EXACT [NCIT:C4725] +synonym: "papillary tumour of Rathke's pouch" EXACT OMO:0003005 [] xref: DOID:3847 {source="MONDO:equivalentTo"} xref: EFO:1000447 {source="MONDO:equivalentTo"} xref: ICDO:9352/1 {source="NCIT:C4725"} @@ -44234,6 +45284,7 @@ synonym: "seminal vesicle neoplasm" EXACT [DOID:3855, NCIT:C39908] synonym: "seminal vesicle neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "seminal vesicle tumor" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of seminal vesicle" EXACT [MONDO:patterns/neoplasm] +synonym: "tumour of seminal vesicle" EXACT OMO:0003005 [] xref: DOID:3855 {source="MONDO:equivalentTo"} xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C39908 {source="MONDO:equivalentTo", source="DOID:3855"} @@ -44302,11 +45353,14 @@ synonym: "adult central nervous system embryonal tumor, NOS" RELATED EXCLUDE [NC synonym: "adult central nervous system embryonal tumor, not otherwise specified" RELATED EXCLUDE [NCIT:C5411] synonym: "adult central nervous system primitive neuroectodermal neoplasm" EXACT [NCIT:C5411] synonym: "adult central nervous system primitive neuroectodermal tumor" EXACT [NCIT:C5411] +synonym: "adult central nervous system primitive neuroectodermal tumour" EXACT OMO:0003005 [] synonym: "adult central primitive neuroectodermal neoplasm" EXACT [NCIT:C5411] synonym: "adult central primitive neuroectodermal tumor" EXACT [NCIT:C5411] +synonym: "adult central primitive neuroectodermal tumour" EXACT OMO:0003005 [] synonym: "adult CNS PNET" EXACT [DOID:3865, NCIT:C5411] synonym: "adult CNS primitive neuroectodermal neoplasm" EXACT [NCIT:C5411] synonym: "adult CNS primitive neuroectodermal tumor" EXACT [NCIT:C5411] +synonym: "adult CNS primitive neuroectodermal tumour" EXACT OMO:0003005 [] synonym: "central nervous system primitive neuroectodermal neoplasm of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] xref: DOID:3865 {source="MONDO:equivalentTo"} xref: NCIT:C5411 {source="DOID:3865", source="MONDO:equivalentTo"} @@ -44343,6 +45397,7 @@ synonym: "childhood medulloblastoma" EXACT [NCIT:C3997] synonym: "medulloblastoma" BROAD [NCIT:C3997] synonym: "medulloblastoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "medulloblastoma, childhood" RELATED [GARD:0009350] +synonym: "paediatric medulloblastoma" EXACT OMO:0003005 [] synonym: "pediatric medulloblastoma" EXACT [DOID:3869, MONDO:patterns/childhood, NCIT:C3997] xref: DOID:3869 {source="MONDO:equivalentTo"} xref: MESH:D008527 {source="DOID:3869"} @@ -44366,11 +45421,21 @@ synonym: "childhood central nervous system embryonal tumor, not otherwise specif synonym: "childhood central nervous system PNET" EXACT [NCIT:C5961] synonym: "childhood central nervous system primitive neuroectodermal neoplasm" EXACT [NCIT:C5961] synonym: "childhood central nervous system primitive neuroectodermal tumor" EXACT [NCIT:C5961] +synonym: "childhood central nervous system primitive neuroectodermal tumour" EXACT OMO:0003005 [] synonym: "childhood central primitive neuroectodermal neoplasm" EXACT [NCIT:C5961] synonym: "childhood central primitive neuroectodermal tumor" EXACT [NCIT:C5961] +synonym: "childhood central primitive neuroectodermal tumour" EXACT OMO:0003005 [] synonym: "childhood CNS PNET" EXACT [NCIT:C5961] synonym: "childhood CNS primitive neuroectodermal neoplasm" EXACT [NCIT:C5961] synonym: "childhood CNS primitive neuroectodermal tumor" EXACT [NCIT:C5961] +synonym: "childhood CNS primitive neuroectodermal tumour" EXACT OMO:0003005 [] +synonym: "paediatric central nervous system primitive neuroectodermal neoplasm" EXACT OMO:0003005 [] +synonym: "paediatric central nervous system primitive neuroectodermal tumour" EXACT OMO:0003005 [] +synonym: "paediatric central primitive neuroectodermal neoplasm" EXACT OMO:0003005 [] +synonym: "paediatric central primitive neuroectodermal tumour" EXACT OMO:0003005 [] +synonym: "paediatric CNS PNET" EXACT OMO:0003005 [] +synonym: "paediatric CNS primitive neuroectodermal neoplasm" EXACT OMO:0003005 [] +synonym: "paediatric CNS primitive neuroectodermal tumour" EXACT OMO:0003005 [] synonym: "pediatric central nervous system primitive neuroectodermal neoplasm" EXACT [MONDO:patterns/childhood, NCIT:C5961] synonym: "pediatric central nervous system primitive neuroectodermal tumor" EXACT [NCIT:C5961] synonym: "pediatric central primitive neuroectodermal neoplasm" EXACT [NCIT:C5961] @@ -44547,8 +45612,10 @@ synonym: "bronchial neoplasm (disease)" EXACT [https://orcid.org/0000-0002-6601- synonym: "bronchus neoplasm" EXACT [DOID:3906] synonym: "bronchus neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "bronchus tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "bronchus tumour" EXACT OMO:0003005 [] synonym: "neoplasm of bronchus" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of bronchus" EXACT [MONDO:patterns/neoplasm] +synonym: "tumour of bronchus" EXACT OMO:0003005 [] xref: DOID:3906 {source="MONDO:equivalentTo"} xref: EFO:1000849 {source="MONDO:equivalentTo"} xref: HP:0030077 {source="MONDO:otherHierarchy"} @@ -44656,12 +45723,16 @@ synonym: "adipose tissue cancer" EXACT [MONDO:patterns/location] synonym: "cancer of adipose tissue" EXACT [MONDO:patterns/cancer] synonym: "malignant adipose tissue neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4501] synonym: "malignant adipose tissue tumor" EXACT [NCIT:C4501] +synonym: "malignant adipose tissue tumour" EXACT OMO:0003005 [] synonym: "malignant lipomatous neoplasm" EXACT [NCIT:C4501] synonym: "malignant lipomatous tumor" EXACT [NCIT:C4501] +synonym: "malignant lipomatous tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of adipose tissue" EXACT [MONDO:patterns/cancer, NCIT:C4501] synonym: "malignant neoplasm of the adipose tissue" EXACT [NCIT:C4501] synonym: "malignant tumor of adipose tissue" EXACT [DOID:3939, NCIT:C4501] synonym: "malignant tumor of the adipose tissue" EXACT [NCIT:C4501] +synonym: "malignant tumour of adipose tissue" EXACT OMO:0003005 [] +synonym: "malignant tumour of the adipose tissue" EXACT OMO:0003005 [] xref: DOID:3939 {source="MONDO:equivalentObsolete"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C4501 {source="MONDO:equivalentObsolete", source="DOID:3939"} @@ -44736,14 +45807,19 @@ synonym: "adrenal neoplasm" BROAD [DOID:3953] synonym: "cancer of adrenal gland" EXACT [MONDO:patterns/cancer] synonym: "malignant adrenal gland neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C9338] synonym: "malignant adrenal gland tumor" EXACT [NCIT:C9338] +synonym: "malignant adrenal gland tumour" EXACT OMO:0003005 [] synonym: "malignant adrenal neoplasm" EXACT [NCIT:C9338] synonym: "malignant adrenal tumor" EXACT [DOID:3953, NCIT:C9338] +synonym: "malignant adrenal tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of adrenal gland" EXACT [DOID:3953, ICD9CM:194.0, MONDO:patterns/cancer, NCIT:C9338] synonym: "malignant neoplasm of the adrenal gland" EXACT [NCIT:C9338] synonym: "malignant tumor of adrenal gland" EXACT [NCIT:C9338] synonym: "malignant tumor of the adrenal gland" EXACT [NCIT:C9338] +synonym: "malignant tumour of adrenal gland" EXACT OMO:0003005 [] +synonym: "malignant tumour of the adrenal gland" EXACT OMO:0003005 [] synonym: "neoplasm of adrenal gland" BROAD EXCLUDE [DOID:3953] synonym: "tumor of the adrenal gland" BROAD [DOID:3953, NCIT:C2859] +synonym: "tumour of the adrenal gland" BROAD OMO:0003005 [] xref: DOID:3953 {source="MONDO:equivalentTo"} xref: ICD10CM:C74 {source="DOID:3953"} xref: ICD10CM:C74.9 {source="DOID:3953"} @@ -45130,8 +46206,11 @@ synonym: "malignant neoplasm of the skeletal muscle" EXACT [NCIT:C6516] synonym: "malignant skeletal muscle neoplasm" EXACT [NCIT:C6516] synonym: "malignant skeletal muscle tissue neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant skeletal muscle tumor" EXACT [NCIT:C6516] +synonym: "malignant skeletal muscle tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of skeletal muscle" EXACT [DOID:4043, NCIT:C6516] synonym: "malignant tumor of the skeletal muscle" EXACT [NCIT:C6516] +synonym: "malignant tumour of skeletal muscle" EXACT OMO:0003005 [] +synonym: "malignant tumour of the skeletal muscle" EXACT OMO:0003005 [] synonym: "skeletal muscle tissue cancer" EXACT [MONDO:patterns/location] xref: DOID:4043 {source="MONDO:equivalentTo"} xref: NCIT:C6516 {source="MONDO:equivalentTo", source="DOID:4043"} @@ -45153,10 +46232,15 @@ synonym: "skeletal muscle neoplasm" EXACT [NCIT:C6514] synonym: "skeletal muscle tissue neoplasm" EXACT [] synonym: "skeletal muscle tissue neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "skeletal muscle tissue tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "skeletal muscle tissue tumour" EXACT OMO:0003005 [] synonym: "skeletal muscle tumor" EXACT [NCIT:C6514] +synonym: "skeletal muscle tumour" EXACT OMO:0003005 [] synonym: "tumor of skeletal muscle" EXACT [DOID:4044, NCIT:C6514] synonym: "tumor of skeletal muscle tissue" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of the skeletal muscle" EXACT [NCIT:C6514] +synonym: "tumour of skeletal muscle" EXACT OMO:0003005 [] +synonym: "tumour of skeletal muscle tissue" EXACT OMO:0003005 [] +synonym: "tumour of the skeletal muscle" EXACT OMO:0003005 [] xref: DOID:4044 {source="MONDO:equivalentTo"} xref: ICD9:239.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C6514 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:4044"} @@ -45315,6 +46399,7 @@ def: "A malignant soft tissue neoplasm that arises from the gallbladder. Represe synonym: "gall bladder sarcoma" EXACT [MONDO:patterns/location] synonym: "gallbladder sarcoma" EXACT [NCIT:C5736] synonym: "malignant mesenchymal tumor of gallbladder" EXACT [DOID:4058, NCIT:C5736] +synonym: "malignant mesenchymal tumour of gallbladder" EXACT OMO:0003005 [] synonym: "sarcoma of gall bladder" EXACT [MONDO:patterns/sarcoma] synonym: "sarcoma of gallbladder" EXACT [NCIT:C5736] synonym: "sarcoma of the gallbladder" EXACT [NCIT:C5736] @@ -45592,13 +46677,17 @@ synonym: "neoplasm of trophoblast" EXACT [MONDO:patterns/neoplasm] synonym: "trophoblast neoplasm" EXACT [] synonym: "trophoblast neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "trophoblast tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "trophoblast tumour" EXACT OMO:0003005 [] synonym: "trophoblastic neoplasm" EXACT [NCIT:C3422] synonym: "trophoblastic neoplasm (morphologic abnormality)" EXACT [DOID:4085] synonym: "trophoblastic neoplasm NOS (morphologic abnormality)" EXACT [DOID:4085] synonym: "trophoblastic neoplasms" EXACT [NCIT:C3422] synonym: "trophoblastic tumor" EXACT [DOID:4085, NCIT:C3422] synonym: "trophoblastic tumor (qualifier value)" EXACT [DOID:4085] +synonym: "trophoblastic tumour" EXACT OMO:0003005 [] +synonym: "trophoblastic tumour (qualifier value)" EXACT OMO:0003005 [] synonym: "tumor of trophoblast" EXACT [MONDO:patterns/neoplasm] +synonym: "tumour of trophoblast" EXACT OMO:0003005 [] xref: DOID:4085 {source="MONDO:equivalentTo"} xref: MESH:D014328 {source="MONDO:equivalentTo", source="DOID:4085"} xref: NCIT:C3422 {source="MONDO:equivalentTo"} @@ -45622,6 +46711,7 @@ id: MONDO:0002874 name: testicular pure germ cell tumor def: "A germ cell tumor that arises from the testis and is characterized by the presence of one histologic component. This category includes seminoma, teratoma, embryonal carcinoma, yolk sac tumor, and trophoblastic tumor." [NCIT:C39915] synonym: "testicular Pure germ cell tumor" EXACT [NCIT:C39915] +synonym: "testicular Pure germ cell tumour" EXACT OMO:0003005 [] xref: DOID:4087 {source="MONDO:equivalentTo"} xref: NCIT:C39915 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:4087"} xref: UMLS:C1514608 {source="MONDO:equivalentTo", source="NCIT:C39915", source="DOID:4087"} @@ -45677,14 +46767,22 @@ subset: ordo_disease {source="Orphanet:213787"} synonym: "carcinosarcoma of the cervix uteri" EXACT [MONDO:0016278] synonym: "cervical carcinosarcoma" EXACT [NCIT:C36097, Orphanet:213787] synonym: "cervical malignant mixed mesodermal (Mullerian) tumor" EXACT [NCIT:C36097] +synonym: "cervical malignant mixed mesodermal (Mullerian) tumour" EXACT OMO:0003005 [] synonym: "cervical malignant mixed mesodermal (Müllerian) tumor" EXACT [NCIT:C36097] +synonym: "cervical malignant mixed mesodermal (Müllerian) tumour" EXACT OMO:0003005 [] synonym: "cervical malignant mixed mesodermal mullerian tumor" EXACT [DOID:4112] +synonym: "cervical malignant mixed mesodermal mullerian tumour" EXACT OMO:0003005 [] synonym: "cervical malignant mixed Mullerian tumor" EXACT [DOID:4112] +synonym: "cervical malignant mixed Mullerian tumour" EXACT OMO:0003005 [] synonym: "cervical malignant Mullerian mixed tumor" EXACT [Orphanet:213787] +synonym: "cervical malignant Mullerian mixed tumour" EXACT OMO:0003005 [] synonym: "cervical malignant Müllerian mixed tumor" EXACT [Orphanet:213787] +synonym: "cervical malignant Müllerian mixed tumour" EXACT OMO:0003005 [] synonym: "cervical mixed epithelial and mesenchymal neoplasm" EXACT [DOID:4112] synonym: "malignant Mullerian mixed tumor of the cervix uteri" EXACT [Orphanet:213787] +synonym: "malignant Mullerian mixed tumour of the cervix uteri" EXACT OMO:0003005 [] synonym: "malignant Müllerian mixed tumor of the cervix uteri" EXACT [Orphanet:213787] +synonym: "malignant Müllerian mixed tumour of the cervix uteri" EXACT OMO:0003005 [] synonym: "uterine cervix carcinosarcoma" EXACT [MONDO:patterns/location] xref: DOID:4112 {source="MONDO:equivalentTo"} xref: ICD10CM:C53 {source="Orphanet:213787/ntbt", source="Orphanet:213787"} @@ -45747,8 +46845,10 @@ name: uterine body mixed cancer def: "A primary malignant neoplasm of the uterine corpus characterized by the presence of an epithelial and a mesenchymal component. This category includes carcinosarcoma, carcinofibroma, and adenosarcoma." [NCIT:P378] synonym: "malignant body of uterus mixed neoplasm" EXACT [NCIT:C6311] synonym: "malignant body of uterus mixed tumor" EXACT [NCIT:C6311] +synonym: "malignant body of uterus mixed tumour" EXACT OMO:0003005 [] synonym: "malignant corpus uteri mixed neoplasm" EXACT [NCIT:C6311] synonym: "malignant corpus uteri mixed tumor" EXACT [NCIT:C6311] +synonym: "malignant corpus uteri mixed tumour" EXACT OMO:0003005 [] synonym: "malignant mixed neoplasm of body of uterus" EXACT [NCIT:C6311] synonym: "malignant mixed neoplasm of corpus uteri" EXACT [NCIT:C6311] synonym: "malignant mixed neoplasm of the body of uterus" EXACT [NCIT:C6311] @@ -45765,10 +46865,20 @@ synonym: "malignant mixed tumor of the uterine body" EXACT [NCIT:C6311] synonym: "malignant mixed tumor of the uterine corpus" EXACT [NCIT:C6311] synonym: "malignant mixed tumor of uterine body" EXACT [NCIT:C6311] synonym: "malignant mixed tumor of uterine corpus" EXACT [NCIT:C6311] +synonym: "malignant mixed tumour of body of uterus" EXACT OMO:0003005 [] +synonym: "malignant mixed tumour of corpus uteri" EXACT OMO:0003005 [] +synonym: "malignant mixed tumour of the body of uterus" EXACT OMO:0003005 [] +synonym: "malignant mixed tumour of the corpus uteri" EXACT OMO:0003005 [] +synonym: "malignant mixed tumour of the uterine body" EXACT OMO:0003005 [] +synonym: "malignant mixed tumour of the uterine corpus" EXACT OMO:0003005 [] +synonym: "malignant mixed tumour of uterine body" EXACT OMO:0003005 [] +synonym: "malignant mixed tumour of uterine corpus" EXACT OMO:0003005 [] synonym: "malignant uterine body mixed neoplasm" EXACT [NCIT:C6311] synonym: "malignant uterine body mixed tumor" EXACT [NCIT:C6311] +synonym: "malignant uterine body mixed tumour" EXACT OMO:0003005 [] synonym: "malignant uterine corpus mixed epithelial and mesenchymal neoplasm" EXACT [NCIT:C6311] synonym: "malignant uterine corpus mixed tumor" EXACT [NCIT:C6311] +synonym: "malignant uterine corpus mixed tumour" EXACT OMO:0003005 [] xref: DOID:4114 {source="MONDO:equivalentTo"} xref: NCIT:C6311 {source="DOID:4114", source="MONDO:equivalentTo"} xref: UMLS:C1334628 {source="DOID:4114", source="NCIT:C6311", source="MONDO:equivalentTo"} @@ -45823,11 +46933,14 @@ synonym: "colon NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "colon neuroendocrine neoplasm" EXACT [MONDO:patterns/location, NCIT:C5697] synonym: "colon neuroendocrine tumor" EXACT [MONDO:patterns/location, MONDO:patterns/neuroendocrine_neoplasm] synonym: "colon neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm] +synonym: "colon neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "colonic neuroendocrine neoplasm" EXACT [NCIT:C5697] synonym: "colonic neuroendocrine tumor" EXACT [DOID:4118, NCIT:C5697] +synonym: "colonic neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "neuroendocrine neoplasm of colon" EXACT [MONDO:patterns/neuroendocrine_neoplasm, NCIT:C5697] synonym: "neuroendocrine neoplasm of the colon" EXACT [NCIT:C5697] synonym: "neuroendocrine tumor of the colon" RELATED [Orphanet:100080] +synonym: "neuroendocrine tumour of the colon" RELATED OMO:0003005 [] xref: DOID:4118 {source="MONDO:equivalentTo"} xref: NCIT:C5697 {source="DOID:4118", source="MONDO:equivalentTo"} xref: Orphanet:100080 {source="MONDO:equivalentTo"} @@ -45843,14 +46956,17 @@ id: MONDO:0002883 name: intestinal neuroendocrine neoplasm def: "A neoplasm with neuroendocrine differentiation that arises from the small or large intestine. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." [NCIT:C5695] synonym: "intestinal neuroendocrine benign tumor" RELATED [DOID:4119] +synonym: "intestinal neuroendocrine benign tumour" RELATED OMO:0003005 [] synonym: "intestinal neuroendocrine neoplasm" EXACT [NCIT:C5695] synonym: "intestine NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "intestine neuroendocrine neoplasm" EXACT [MONDO:patterns/location] synonym: "intestine neuroendocrine tumor" EXACT [MONDO:patterns/location, MONDO:patterns/neuroendocrine_neoplasm] synonym: "intestine neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm] +synonym: "intestine neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "neuroendocrine neoplasm of intestine" EXACT [MONDO:patterns/neuroendocrine_neoplasm, NCIT:C5695] synonym: "neuroendocrine neoplasm of the intestine" EXACT [NCIT:C5695] synonym: "neuroendocrine tumor of intestine" EXACT [DOID:4119] +synonym: "neuroendocrine tumour of intestine" EXACT OMO:0003005 [] xref: DOID:4119 {source="MONDO:equivalentTo"} xref: NCIT:C5695 {source="MONDO:equivalentTo", source="DOID:4119"} xref: UMLS:C1334231 {source="NCIT:C5695", source="MONDO:equivalentTo", source="DOID:4119"} @@ -45965,14 +47081,19 @@ synonym: "malignant neoplasm of the orbit" EXACT [NCIT:C3562] synonym: "malignant orbit neoplasm" EXACT [NCIT:C3562] synonym: "malignant orbit of skull neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant orbit tumor" EXACT [NCIT:C3562] +synonym: "malignant orbit tumour" EXACT OMO:0003005 [] synonym: "malignant orbital neoplasm" EXACT [NCIT:C3562] synonym: "malignant orbital tumor" EXACT [NCIT:C3562] +synonym: "malignant orbital tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of orbit" EXACT [NCIT:C3562] synonym: "malignant tumor of the orbit" EXACT [NCIT:C3562] +synonym: "malignant tumour of orbit" EXACT OMO:0003005 [] +synonym: "malignant tumour of the orbit" EXACT OMO:0003005 [] synonym: "neoplasm of orbit proper" BROAD [DOID:4143] synonym: "orbit cancer" EXACT [DOID:4143] synonym: "orbit of skull cancer" EXACT [MONDO:patterns/location] synonym: "orbital tumor" BROAD [DOID:4143, NCIT:C3290] +synonym: "orbital tumour" BROAD OMO:0003005 [] xref: DOID:4143 {source="MONDO:equivalentTo"} xref: EFO:0007408 {source="MONDO:equivalentTo"} xref: ICD10CM:C69.6 {source="DOID:4143"} @@ -46094,8 +47215,11 @@ synonym: "malignant neoplasm of the skin" EXACT [NCIT:C2920] synonym: "malignant neoplasm of zone of skin" EXACT [MONDO:patterns/cancer] synonym: "malignant skin neoplasm" EXACT [NCIT:C2920] synonym: "malignant skin tumor" EXACT [NCIT:C2920] +synonym: "malignant skin tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of skin" EXACT [NCIT:C2920] synonym: "malignant tumor of the skin" EXACT [NCIT:C2920] +synonym: "malignant tumour of skin" EXACT OMO:0003005 [] +synonym: "malignant tumour of the skin" EXACT OMO:0003005 [] synonym: "malignant zone of skin neoplasm" EXACT [MONDO:patterns/cancer] synonym: "melanoma and non-melanoma skin cancer" EXACT [DOID:4159, NCIT:C2920] synonym: "skin cancer" EXACT [NCIT:C2920] @@ -46299,10 +47423,12 @@ def: "A neuroglial tumor that arises from the brain stem." [NCIT:C8501] synonym: "brain stem glioma" EXACT [NCIT:C8501] synonym: "brain stem neuroglial neoplasm" EXACT [NCIT:C8501] synonym: "brain stem neuroglial tumor" EXACT [NCIT:C8501] +synonym: "brain stem neuroglial tumour" EXACT OMO:0003005 [] synonym: "brainstem glioma" EXACT [NCIT:C8501] synonym: "brainstem malignant glioma" EXACT [MONDO:patterns/location] synonym: "brainstem neuroglial neoplasm" EXACT [NCIT:C8501] synonym: "brainstem neuroglial tumor" EXACT [DOID:4202, NCIT:C8501] +synonym: "brainstem neuroglial tumour" EXACT OMO:0003005 [] synonym: "diffuse brainstem glioma" EXACT [NCIT:C8501] synonym: "glioma of brain stem" EXACT [NCIT:C8501] synonym: "glioma of brainstem" EXACT [NCIT:C8501] @@ -46329,8 +47455,10 @@ synonym: "brainstem cancer" EXACT [MONDO:patterns/location] synonym: "cancer of brainstem" EXACT [MONDO:patterns/cancer] synonym: "malignant brain stem neoplasm" BROAD [NCIT:C3570] synonym: "malignant brain stem tumor" BROAD [NCIT:C3570] +synonym: "malignant brain stem tumour" BROAD OMO:0003005 [] synonym: "malignant brainstem neoplasm" BROAD [MONDO:patterns/cancer, NCIT:C3570] synonym: "malignant brainstem tumor" BROAD [NCIT:C3570] +synonym: "malignant brainstem tumour" BROAD OMO:0003005 [] synonym: "malignant neoplasm of brain stem" EXACT [DOID:4203, NCIT:C3570] synonym: "malignant neoplasm of brainstem" EXACT [DOID:4203, MONDO:patterns/cancer, NCIT:C3570] synonym: "malignant neoplasm of the brain stem" EXACT [NCIT:C3570] @@ -46339,12 +47467,19 @@ synonym: "malignant tumor of brain stem" EXACT [NCIT:C3570] synonym: "malignant tumor of brainstem" EXACT [DOID:4203, NCIT:C3570] synonym: "malignant tumor of the brain stem" EXACT [NCIT:C3570] synonym: "malignant tumor of the brainstem" EXACT [NCIT:C3570] +synonym: "malignant tumour of brain stem" EXACT OMO:0003005 [] +synonym: "malignant tumour of brainstem" EXACT OMO:0003005 [] +synonym: "malignant tumour of the brain stem" EXACT OMO:0003005 [] +synonym: "malignant tumour of the brainstem" EXACT OMO:0003005 [] synonym: "neoplasm of adult brain stem" BROAD [DOID:4203] synonym: "neoplasm of brain stem" BROAD [DOID:4203] synonym: "primary brain stem neoplasm" BROAD [DOID:4203] synonym: "primary brain stem tumor" BROAD [DOID:4203] +synonym: "primary brain stem tumour" BROAD OMO:0003005 [] synonym: "tumor of adult brainstem" BROAD EXCLUDE [DOID:4203] synonym: "tumor of the brainstem" BROAD [DOID:4203] +synonym: "tumour of adult brainstem" BROAD OMO:0003005 [] +synonym: "tumour of the brainstem" BROAD OMO:0003005 [] xref: DOID:4203 {source="MONDO:equivalentTo"} xref: ICD10CM:C71.7 {source="DOID:4203"} xref: ICD9:191.7 {source="DOID:4203", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -46375,15 +47510,20 @@ def: "A benign or malignant (primary or metastatic) tumor involving the cerebell synonym: "cerebellar cancer" RELATED EXCLUDE [DOID:4205] synonym: "cerebellar neoplasm" EXACT [NCIT:C2935] synonym: "cerebellar tumor" EXACT [NCIT:C2935] +synonym: "cerebellar tumour" EXACT OMO:0003005 [] synonym: "cerebellum cancer" RELATED [DOID:4205] synonym: "cerebellum neoplasm" EXACT [] synonym: "cerebellum neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "cerebellum tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "cerebellum tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of cerebellum" NARROW [DOID:4205, NCIT:C3569] +synonym: "malignant tumour of cerebellum" NARROW OMO:0003005 [] synonym: "neoplasm of cerebellum" EXACT [MONDO:patterns/neoplasm, NCIT:C2935] synonym: "neoplasm of the cerebellum" EXACT [NCIT:C2935] synonym: "tumor of cerebellum" EXACT [MONDO:patterns/neoplasm, NCIT:C2935] synonym: "tumor of the cerebellum" EXACT [NCIT:C2935] +synonym: "tumour of cerebellum" EXACT OMO:0003005 [] +synonym: "tumour of the cerebellum" EXACT OMO:0003005 [] xref: DOID:4205 {source="MONDO:equivalentTo"} xref: ICD10CM:C71.6 {source="DOID:4205"} xref: ICD9:191.6 {source="DOID:4205"} @@ -46410,9 +47550,11 @@ synonym: "brain stem neoplasm" EXACT [NCIT:C5969] synonym: "brainstem cancer of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "childhood brain stem neoplasm" EXACT [NCIT:C5969] synonym: "childhood brain stem tumor" EXACT [NCIT:C5969] +synonym: "childhood brain stem tumour" EXACT OMO:0003005 [] synonym: "childhood brainstem cancer" EXACT [MONDO:design_pattern] synonym: "childhood brainstem neoplasm" EXACT [NCIT:C5969] synonym: "childhood brainstem tumor" EXACT [NCIT:C5969] +synonym: "childhood brainstem tumour" EXACT OMO:0003005 [] synonym: "childhood neoplasm of brain stem" EXACT [NCIT:C5969] synonym: "childhood neoplasm of brainstem" EXACT [NCIT:C5969] synonym: "childhood neoplasm of the brain stem" EXACT [NCIT:C5969] @@ -46421,6 +47563,23 @@ synonym: "childhood tumor of brain stem" EXACT [NCIT:C5969] synonym: "childhood tumor of brainstem" EXACT [NCIT:C5969] synonym: "childhood tumor of the brain stem" EXACT [NCIT:C5969] synonym: "childhood tumor of the brainstem" EXACT [NCIT:C5969] +synonym: "childhood tumour of brain stem" EXACT OMO:0003005 [] +synonym: "childhood tumour of brainstem" EXACT OMO:0003005 [] +synonym: "childhood tumour of the brain stem" EXACT OMO:0003005 [] +synonym: "childhood tumour of the brainstem" EXACT OMO:0003005 [] +synonym: "paediatric brain stem neoplasm" EXACT OMO:0003005 [] +synonym: "paediatric brain stem tumour" EXACT OMO:0003005 [] +synonym: "paediatric brainstem cancer" EXACT OMO:0003005 [] +synonym: "paediatric brainstem neoplasm" EXACT OMO:0003005 [] +synonym: "paediatric brainstem tumour" EXACT OMO:0003005 [] +synonym: "paediatric neoplasm of brain stem" EXACT OMO:0003005 [] +synonym: "paediatric neoplasm of brainstem" EXACT OMO:0003005 [] +synonym: "paediatric neoplasm of the brain stem" EXACT OMO:0003005 [] +synonym: "paediatric neoplasm of the brainstem" EXACT OMO:0003005 [] +synonym: "paediatric tumour of brain stem" EXACT OMO:0003005 [] +synonym: "paediatric tumour of brainstem" EXACT OMO:0003005 [] +synonym: "paediatric tumour of the brain stem" EXACT OMO:0003005 [] +synonym: "paediatric tumour of the brainstem" EXACT OMO:0003005 [] synonym: "pediatric brain stem neoplasm" EXACT [NCIT:C5969] synonym: "pediatric brain stem tumor" EXACT [NCIT:C5969] synonym: "pediatric brainstem cancer" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] @@ -46451,7 +47610,11 @@ synonym: "childhood infratentorial neoplasm" EXACT [NCIT:C5802] synonym: "childhood infratentorial neoplasms" EXACT [NCIT:C5802] synonym: "childhood infratentorial tumor" EXACT [NCIT:C5802] synonym: "childhood infratentorial tumors" EXACT [NCIT:C5802] +synonym: "childhood infratentorial tumour" EXACT OMO:0003005 [] +synonym: "childhood infratentorial tumours" EXACT OMO:0003005 [] synonym: "infratentorial neoplasm of childhood" EXACT [MONDO:patterns/childhood] +synonym: "paediatric infratentorial neoplasm" EXACT OMO:0003005 [] +synonym: "paediatric infratentorial tumour" EXACT OMO:0003005 [] synonym: "pediatric infratentorial neoplasm" EXACT [MONDO:patterns/childhood, NCIT:C5802] synonym: "pediatric infratentorial tumor" EXACT [DOID:4207, NCIT:C5802] xref: DOID:4207 {source="MONDO:equivalentTo"} @@ -46540,6 +47703,8 @@ name: malignant ovarian Brenner tumor def: "A malignant neoplasm that arises from the ovary and is characterized by the presence of an invasive malignant transitional cell component and nests of benign transitional cells in a fibrotic stroma. When the neoplasm is confined to the ovary, the prognosis is good." [NCIT:C4270] synonym: "malignant Brenner tumor of ovary" EXACT [NCIT:C4270] synonym: "malignant Brenner tumor of the ovary" EXACT [NCIT:C4270] +synonym: "malignant Brenner tumour of ovary" EXACT OMO:0003005 [] +synonym: "malignant Brenner tumour of the ovary" EXACT OMO:0003005 [] synonym: "malignant ovarian Brenner tumor" EXACT [NCIT:C4270] synonym: "ovarian Brenner tumor, malignant" EXACT [MONDO:patterns/malignant] xref: DOID:4217 {source="MONDO:equivalentTo"} @@ -46596,6 +47761,7 @@ synonym: "body of uterus endometrioid stromal sarcoma" EXACT [MONDO:patterns/loc synonym: "endometrioid stromal sarcoma of body of uterus" EXACT [MONDO:design_pattern] synonym: "uterine corpus endometrial stromal sarcoma" EXACT [NCIT:C40219] synonym: "uterine corpus endometrial stromal tumor" EXACT [DOID:4227] +synonym: "uterine corpus endometrial stromal tumour" EXACT OMO:0003005 [] synonym: "uterine corpus ess" EXACT [NCIT:C40219] xref: DOID:4227 {source="MONDO:equivalentTo"} xref: NCIT:C40217 {source="DOID:4227"} @@ -46617,8 +47783,11 @@ synonym: "malignant neoplasm of smooth muscle" EXACT [NCIT:C6511] synonym: "malignant neoplasm of the smooth muscle" EXACT [NCIT:C6511] synonym: "malignant smooth muscle neoplasm" EXACT [NCIT:C6511] synonym: "malignant smooth muscle tumor" EXACT [NCIT:C6511] +synonym: "malignant smooth muscle tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of smooth muscle" EXACT [DOID:4230, NCIT:C6511] synonym: "malignant tumor of the smooth muscle" EXACT [NCIT:C6511] +synonym: "malignant tumour of smooth muscle" EXACT OMO:0003005 [] +synonym: "malignant tumour of the smooth muscle" EXACT OMO:0003005 [] synonym: "smooth muscle cancer" EXACT [NCIT:C6511] xref: DOID:4230 {source="MONDO:equivalentTo"} xref: NCIT:C6511 {source="MONDO:equivalentTo", source="DOID:4230"} @@ -46688,15 +47857,23 @@ def: "A malignant tumor composed of a mixture of carcinomatous and sarcomatous e synonym: "carcinosarcoma" EXACT [NCIT:C34448] synonym: "carcinosarcoma, malignant" EXACT [NCIT:C34448] synonym: "malignant mixed mesodermal (mullerian) tumor" EXACT [DOID:4236] +synonym: "malignant mixed mesodermal (mullerian) tumour" EXACT OMO:0003005 [] synonym: "malignant mixed Mullerian tumor" EXACT [DOID:4236] +synonym: "malignant mixed Mullerian tumour" EXACT OMO:0003005 [] synonym: "mesodermal mixed tumor" EXACT [DOID:4236] synonym: "mesodermal mixed tumor (morphologic abnormality)" EXACT [DOID:4236] +synonym: "mesodermal mixed tumour" EXACT OMO:0003005 [] +synonym: "mesodermal mixed tumour (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "mixed mesodermal (mullerian) tumor" EXACT [DOID:4236, NCIT:C3730] +synonym: "mixed mesodermal (mullerian) tumour" EXACT OMO:0003005 [] synonym: "mixed Mullerian tumor" RELATED [GARD:0006966] +synonym: "mixed Mullerian tumour" RELATED OMO:0003005 [] synonym: "mixed tumor, Mullerian" RELATED [GARD:0006966] synonym: "MMMT" EXACT ABBREVIATION [DOID:4236, NCIT:C8975] synonym: "mullerian mixed tumor" EXACT [DOID:4236] synonym: "mullerian mixed tumor (morphologic abnormality)" EXACT [DOID:4236] +synonym: "mullerian mixed tumour" EXACT OMO:0003005 [] +synonym: "mullerian mixed tumour (morphologic abnormality)" EXACT OMO:0003005 [] xref: DOID:4236 {source="MONDO:equivalentTo"} xref: ICDO:8980/3 {source="NCIT:C34448"} xref: MESH:D002296 {source="DOID:4236", source="MONDO:equivalentTo"} @@ -46998,6 +48175,7 @@ synonym: "fibroepithelial basal cell carcinoma" RELATED [DOID:4291] synonym: "fibroepithelioma of Pinkus" EXACT [NCIT:C4109] synonym: "fibroepithelioma of Pinkus type" EXACT [DOID:4291] synonym: "Pinkus tumor" EXACT [DOID:4291, NCIT:C4109] +synonym: "Pinkus tumour" EXACT OMO:0003005 [] xref: DOID:4291 {source="MONDO:equivalentTo"} xref: ICDO:8093/3 {source="NCIT:C4109"} xref: NCIT:C4109 {source="MONDO:equivalentTo", source="DOID:4291"} @@ -47246,7 +48424,9 @@ is_a: MONDO:0024652 ! embryonic cyst of fallopian tube id: MONDO:0002966 name: splenic manifestation of prolymphocytic leukemia def: "A prolymphocytic leukemia that involves the spleen." [MONDO:patterns/location] +synonym: "prolymphocytic leukaemia of spleen" EXACT OMO:0003005 [] synonym: "prolymphocytic leukemia of spleen" EXACT [MONDO:design_pattern] +synonym: "spleen prolymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "spleen prolymphocytic leukemia" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "splenic manifestation of prolymphocytic leukemia" EXACT [NCIT:C7297] xref: DOID:4334 {source="MONDO:equivalentTo"} @@ -47303,12 +48483,16 @@ synonym: "cancer of ciliary body" EXACT [MONDO:patterns/cancer] synonym: "ciliary body cancer" EXACT [MONDO:patterns/location] synonym: "malignant ciliary body neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4766] synonym: "malignant ciliary body tumor" EXACT [NCIT:C4766] +synonym: "malignant ciliary body tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of ciliary body" EXACT [DOID:4352, MONDO:patterns/cancer, NCIT:C4766] synonym: "malignant neoplasm of the ciliary body" EXACT [NCIT:C4766] synonym: "malignant tumor of ciliary body" EXACT [NCIT:C4766] synonym: "malignant tumor of the ciliary body" EXACT [DOID:4352, NCIT:C4766] +synonym: "malignant tumour of ciliary body" EXACT OMO:0003005 [] +synonym: "malignant tumour of the ciliary body" EXACT OMO:0003005 [] synonym: "neoplasm of ciliary body" BROAD EXCLUDE [DOID:4352] synonym: "tumor of the ciliary body" BROAD [DOID:4352, NCIT:C4364] +synonym: "tumour of the ciliary body" BROAD OMO:0003005 [] xref: DOID:4352 {source="MONDO:equivalentTo"} xref: ICD10CM:C69.4 {source="DOID:4352"} xref: NCIT:C4364 {source="DOID:4352"} @@ -47410,10 +48594,13 @@ synonym: "cervix cancer" EXACT [DOID:4362] synonym: "cervix uteri cancer" EXACT [DOID:4362] synonym: "malignant cervical neoplasm" EXACT [NCIT:C9311] synonym: "malignant cervical tumor" EXACT [NCIT:C9311] +synonym: "malignant cervical tumour" EXACT OMO:0003005 [] synonym: "malignant cervix neoplasm" EXACT [NCIT:C9311] synonym: "malignant cervix tumor" EXACT [NCIT:C9311] +synonym: "malignant cervix tumour" EXACT OMO:0003005 [] synonym: "malignant cervix uteri neoplasm" EXACT [NCIT:C9311] synonym: "malignant cervix uteri tumor" EXACT [NCIT:C9311] +synonym: "malignant cervix uteri tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of cervix" EXACT [NCIT:C9311] synonym: "malignant neoplasm of cervix uteri" EXACT [NCIT:C9311] synonym: "malignant neoplasm of the cervix" EXACT [NCIT:C9311] @@ -47426,10 +48613,18 @@ synonym: "malignant tumor of the cervix" EXACT [NCIT:C9311] synonym: "malignant tumor of the cervix uteri" EXACT [NCIT:C9311] synonym: "malignant tumor of the uterine cervix" EXACT [NCIT:C9311] synonym: "malignant tumor of uterine cervix" EXACT [NCIT:C9311] +synonym: "malignant tumour of cervix" EXACT OMO:0003005 [] +synonym: "malignant tumour of cervix uteri" EXACT OMO:0003005 [] +synonym: "malignant tumour of the cervix" EXACT OMO:0003005 [] +synonym: "malignant tumour of the cervix uteri" EXACT OMO:0003005 [] +synonym: "malignant tumour of the uterine cervix" EXACT OMO:0003005 [] +synonym: "malignant tumour of uterine cervix" EXACT OMO:0003005 [] synonym: "malignant uterine cervix neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C9311] synonym: "malignant uterine cervix tumor" EXACT [NCIT:C9311] +synonym: "malignant uterine cervix tumour" EXACT OMO:0003005 [] synonym: "neoplasm of uterine cervix" RELATED EXCLUDE [DOID:4362] synonym: "tumor of the cervix uteri" BROAD [DOID:4362, NCIT:C2940] +synonym: "tumour of the cervix uteri" BROAD OMO:0003005 [] synonym: "uterine cervical neoplasm" BROAD [DOID:4362] synonym: "uterine cervix cancer" EXACT [MONDO:patterns/location] xref: DOID:4362 {source="MONDO:equivalentTo"} @@ -47562,13 +48757,17 @@ name: peripheral primitive neuroectodermal tumor of bone def: "A small round cell tumor with neural differentiation arising from the bone. It may be associated with pain." [NCIT:C8776] synonym: "bone peripheral neuroepithelioma" EXACT [NCIT:C8776] synonym: "bone tissue peripheral primitive neuroectodermal tumor" EXACT [MONDO:patterns/location] +synonym: "bone tissue peripheral primitive neuroectodermal tumour" EXACT OMO:0003005 [] synonym: "osseous peripheral neuroepithelioma" EXACT [DOID:4388, NCIT:C8776] synonym: "peripheral neuroectodermal tumor of bone" EXACT [NCIT:C8776] synonym: "peripheral neuroectodermal tumor of the bone" EXACT [NCIT:C8776] +synonym: "peripheral neuroectodermal tumour of bone" EXACT OMO:0003005 [] +synonym: "peripheral neuroectodermal tumour of the bone" EXACT OMO:0003005 [] synonym: "peripheral neuroepithelioma of bone" EXACT [NCIT:C8776] synonym: "peripheral neuroepithelioma of the bone" EXACT [NCIT:C8776] synonym: "peripheral primitive neuroectodermal tumor of bone" EXACT [NCIT:C8776] synonym: "peripheral primitive neuroectodermal tumor of bone tissue" EXACT [MONDO:design_pattern] +synonym: "peripheral primitive neuroectodermal tumour of bone tissue" EXACT OMO:0003005 [] xref: DOID:4388 {source="MONDO:equivalentTo"} xref: NCIT:C8776 {source="DOID:4388", source="MONDO:equivalentTo"} xref: UMLS:C0855009 {source="DOID:4388", source="MONDO:equivalentTo", source="NCIT:C8776"} @@ -47583,6 +48782,8 @@ name: peripheral primitive neuroectodermal tumor of soft tissues def: "A small round cell tumor with neural differentiation arising from the soft tissues." [NCIT:C27471] synonym: "peripheral neuroectodermal tumor of soft tissues" EXACT [DOID:4389, NCIT:C27471] synonym: "peripheral neuroectodermal tumor of the soft tissues" EXACT [NCIT:C27471] +synonym: "peripheral neuroectodermal tumour of soft tissues" EXACT OMO:0003005 [] +synonym: "peripheral neuroectodermal tumour of the soft tissues" EXACT OMO:0003005 [] synonym: "peripheral neuroepithelioma of soft tissues" EXACT [NCIT:C27471] synonym: "peripheral neuroepithelioma of the soft tissues" EXACT [NCIT:C27471] synonym: "peripheral primitive neuroectodermal tumor of soft tissues" EXACT [NCIT:C27471] @@ -47719,6 +48920,7 @@ name: pancreatic somatostatinoma def: "A neuroendocrine tumor arising from the delta cells of the pancreas. It is characterized by inappropriate secretion of somatostatin and associated with diabetes mellitus, hypochlorhydria, gallbladder disease, diarrhea, steatorrhea, anemia, and weight loss." [NCIT:C95595] synonym: "pancreatic delta cell somatostatin producing neoplasm" EXACT [DOID:4432] synonym: "pancreatic somatostatin cell tumor" EXACT [DOID:4432, NCIT:C8006] +synonym: "pancreatic somatostatin cell tumour" EXACT OMO:0003005 [] xref: DOID:4432 {source="MONDO:equivalentTo"} xref: EFO:1001964 {source="MONDO:equivalentTo"} xref: NCIT:C8006 {source="DOID:4432"} @@ -47734,7 +48936,9 @@ synonym: "pancreatic Delta cell neoplasm" EXACT [NCIT:C28396] synonym: "pancreatic delta cell neoplasm" EXACT [DOID:4433] synonym: "pancreatic Delta cell NET" EXACT [NCIT:C28396] synonym: "pancreatic Delta cell neuroendocrine tumor" EXACT [NCIT:C28396] +synonym: "pancreatic Delta cell neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "pancreatic Delta cell tumor" EXACT [DOID:4433, NCIT:C28396] +synonym: "pancreatic Delta cell tumour" EXACT OMO:0003005 [] xref: DOID:4433 {source="MONDO:equivalentTo"} xref: NCIT:C28396 {source="DOID:4433", source="MONDO:equivalentTo"} xref: UMLS:C1335301 {source="NCIT:C28396", source="DOID:4433", source="MONDO:equivalentTo"} @@ -47748,11 +48952,15 @@ id: MONDO:0002995 name: small intestine neuroendocrine tumor, well differentiated, low or intermediate grade def: "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the small intestine." [NCIT:C96061] synonym: "carcinoid tumor of small intestine" RELATED [MONDO:cjm] +synonym: "carcinoid tumour of small intestine" RELATED OMO:0003005 [] synonym: "small intestinal NET" BROAD [NCIT:C96061] synonym: "small intestinal neuroendocrine tumor" BROAD [NCIT:C96061] +synonym: "small intestinal neuroendocrine tumour" BROAD OMO:0003005 [] synonym: "small intestinal well differentiated endocrine tumor" BROAD [NCIT:C96061] synonym: "small intestinal well differentiated endocrine tumor/carcinoma" NARROW [NCIT:C96061] +synonym: "small intestinal well differentiated endocrine tumour" BROAD OMO:0003005 [] synonym: "small intestine neuroendocrine tumor" BROAD [MONDO:patterns/location, NCIT:C5803] +synonym: "small intestine neuroendocrine tumour" BROAD OMO:0003005 [] xref: EFO:1001928 {source="MONDO:equivalentTo"} xref: NCIT:C96061 {source="MONDO:equivalentTo"} xref: UMLS:C3272528 {source="NCIT:C96061", source="MONDO:equivalentTo"} @@ -47840,8 +49048,10 @@ def: "A unique group of rare tumors of the central nervous system that affect ma synonym: "central nervous system germ cell neoplasm" EXACT [NCIT:C5461] synonym: "central nervous system germ cell tumor" EXACT [MONDO:patterns/location, NCIT:C5461] synonym: "central nervous system rare germ cell tumor" EXACT [MONDO:patterns/location] +synonym: "central nervous system rare germ cell tumour" EXACT OMO:0003005 [] synonym: "CNS germ cell neoplasm" EXACT [NCIT:C5461] synonym: "CNS germ cell tumor" EXACT [NCIT:C5461] +synonym: "CNS germ cell tumour" EXACT OMO:0003005 [] synonym: "germ cell neoplasm of central nervous system" EXACT [NCIT:C5461] synonym: "germ cell neoplasm of CNS" EXACT [NCIT:C5461] synonym: "germ cell neoplasm of the central nervous system" EXACT [NCIT:C5461] @@ -47850,6 +49060,10 @@ synonym: "germ cell tumor of central nervous system" EXACT [NCIT:C5461] synonym: "germ cell tumor of CNS" EXACT [NCIT:C5461] synonym: "germ cell tumor of the central nervous system" EXACT [NCIT:C5461] synonym: "germ cell tumor of the CNS" EXACT [DOID:4439, NCIT:C5461] +synonym: "germ cell tumour of central nervous system" EXACT OMO:0003005 [] +synonym: "germ cell tumour of CNS" EXACT OMO:0003005 [] +synonym: "germ cell tumour of the central nervous system" EXACT OMO:0003005 [] +synonym: "germ cell tumour of the CNS" EXACT OMO:0003005 [] xref: DOID:4439 {source="MONDO:equivalentTo"} xref: NCIT:C5461 {source="MONDO:equivalentTo", source="DOID:4439"} xref: UMLS:C1332880 {source="NCIT:C5461", source="MONDO:equivalentTo", source="DOID:4439"} @@ -47942,8 +49156,11 @@ name: macular retinal edema def: "Accumulation of intraretinal fluid and protein in the macula, which may result in swelling and decreased central vision." [NCIT:C35468] synonym: "edema, macular" RELATED [NCIT:C35468] synonym: "macula lutea retinal edema" EXACT [MONDO:patterns/location] +synonym: "macula lutea retinal oedema" EXACT OMO:0003005 [] synonym: "macular edema" EXACT [DOID:4449, NCIT:C35468] +synonym: "macular oedema" EXACT OMO:0003005 [] synonym: "retinal edema of macula lutea" EXACT [MONDO:design_pattern] +synonym: "retinal oedema of macula lutea" EXACT OMO:0003005 [] xref: DOID:4449 {source="MONDO:equivalentTo"} xref: MESH:D008269 {source="DOID:4449"} xref: NCIT:C35468 {source="MONDO:equivalentTo", source="DOID:4449"} @@ -47966,6 +49183,9 @@ def: "A renal cell carcinoma that occurs during childhood." [NCIT:P378] synonym: "childhood kidney cell carcinoma" EXACT [NCIT:C6568] synonym: "childhood renal cell carcinoma" EXACT [NCIT:C6568] synonym: "childhood renal cell carcinoma (disease)" EXACT [] +synonym: "paediatric kidney cell carcinoma" EXACT OMO:0003005 [] +synonym: "paediatric renal cell carcinoma" EXACT OMO:0003005 [] +synonym: "paediatric renal cell carcinoma (disease)" EXACT OMO:0003005 [] synonym: "pediatric kidney cell carcinoma" EXACT [NCIT:C6568] synonym: "pediatric renal cell carcinoma" EXACT [DOID:4454, NCIT:C6568] synonym: "pediatric renal cell carcinoma (disease)" EXACT [MONDO:patterns/childhood] @@ -48139,6 +49359,7 @@ name: malignant peritoneal solitary fibrous tumor def: "A malignant form of peritoneal solitary fibrous tumor." [MONDO:patterns/malignant] synonym: "peritoneal solitary fibrous tumor, malignant" EXACT [MONDO:patterns/malignant] synonym: "pleural and peritoneal solitary fibrous tumor" EXACT [DOID:4490, NCIT:C6893] +synonym: "pleural and peritoneal solitary fibrous tumour" EXACT OMO:0003005 [] xref: DOID:4490 {source="MONDO:equivalentTo"} intersection_of: MONDO:0037737 ! peritoneal solitary fibrous tumor intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant @@ -48212,6 +49433,8 @@ synonym: "angiosarcoma (disease) of childhood" EXACT [MONDO:patterns/childhood] synonym: "childhood angiosarcoma" EXACT [NCIT:C9174] synonym: "childhood angiosarcoma (disease)" EXACT [] synonym: "childhood hemangiosarcoma" EXACT [NCIT:C9174] +synonym: "paediatric angiosarcoma (disease)" EXACT OMO:0003005 [] +synonym: "paediatric hemangiosarcoma" EXACT OMO:0003005 [] synonym: "pediatric angiosarcoma" EXACT [NCIT:C9174] synonym: "pediatric angiosarcoma (disease)" EXACT [MONDO:patterns/childhood] synonym: "pediatric hemangiosarcoma" EXACT [DOID:4505, NCIT:C9174] @@ -48385,8 +49608,10 @@ id: MONDO:0003031 name: endometrioid stromal and related neoplasms of the cervix def: "A category of rare neoplasms that arise from the cervix. It includes low grade endometrioid stromal sarcoma and undifferentiated endocervical sarcoma." [NCIT:C40218] synonym: "cervix endometrial stromal tumor" RELATED [DOID:4521] +synonym: "cervix endometrial stromal tumour" RELATED OMO:0003005 [] synonym: "endometrioid stromal and related neoplasms of the cervix" EXACT [NCIT:C40218] synonym: "endometrioid stromal and related tumors of the cervix" EXACT [NCIT:C40218] +synonym: "endometrioid stromal and related tumours of the cervix" EXACT OMO:0003005 [] xref: DOID:4521 {source="MONDO:equivalentTo"} xref: NCIT:C40218 {source="DOID:4521", source="MONDO:equivalentTo"} xref: UMLS:C3642325 {source="DOID:4521", source="NCIT:C40218", source="MONDO:notFoundInDiseaseSubset"} @@ -48483,6 +49708,8 @@ synonym: "mucoepidermoid carcinoma" EXACT [NCIT:C3772] synonym: "mucoepidermoid carcinoma (morphologic abnormality)" EXACT [DOID:4531] synonym: "mucoepidermoid tumor" EXACT [EFO:1001049, MESH:D018298] synonym: "mucoepidermoid tumors" RELATED [MESH:D018298] +synonym: "mucoepidermoid tumour" EXACT OMO:0003005 [] +synonym: "mucoepidermoid tumours" RELATED OMO:0003005 [] synonym: "tumor, mucoepidermoid" RELATED [MESH:D018298] synonym: "tumors, mucoepidermoid" RELATED [MESH:D018298] xref: DOID:163 {source="MONDO:equivalentObsolete", source="EFO:1001049"} @@ -48625,8 +49852,10 @@ def: "Tumors or cancer of the anal gland." [MESH:D000694] synonym: "gland of anal canal neoplasm" EXACT [] synonym: "gland of anal canal neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "gland of anal canal tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "gland of anal canal tumour" EXACT OMO:0003005 [] synonym: "neoplasm of gland of anal canal" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of gland of anal canal" EXACT [MONDO:patterns/neoplasm] +synonym: "tumour of gland of anal canal" EXACT OMO:0003005 [] xref: DOID:4550 {source="MONDO:equivalentTo"} xref: EFO:1000804 {source="MONDO:equivalentTo"} xref: MESH:D000694 {source="MONDO:equivalentTo", source="DOID:4550"} @@ -48643,13 +49872,18 @@ synonym: "anal neoplasm" EXACT [DOID:4551, NCIT:C2877] synonym: "anal neoplasms, benign and malignant" EXACT [NCIT:C2877] synonym: "anal tumor" EXACT [NCIT:C2877] synonym: "anal tumors" EXACT [DOID:4551, NCIT:C2877] +synonym: "anal tumour" EXACT OMO:0003005 [] +synonym: "anal tumours" EXACT OMO:0003005 [] synonym: "anus neoplasm" EXACT [NCIT:C2877] synonym: "anus neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "anus tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "anus tumour" EXACT OMO:0003005 [] synonym: "neoplasm of anus" EXACT [DOID:4551, MONDO:patterns/neoplasm, NCIT:C2877] synonym: "neoplasm of the anus" EXACT [NCIT:C2877] synonym: "tumor of anus" EXACT [MONDO:patterns/neoplasm, NCIT:C2877] synonym: "tumor of the anus" EXACT [NCIT:C2877] +synonym: "tumour of anus" EXACT OMO:0003005 [] +synonym: "tumour of the anus" EXACT OMO:0003005 [] xref: DOID:4551 {source="MONDO:equivalentTo"} xref: EFO:0003835 {source="MONDO:equivalentTo"} xref: MESH:D001005 {source="DOID:4551", source="MONDO:equivalentTo"} @@ -48833,6 +50067,7 @@ synonym: "childhood meningioma" EXACT [NCIT:C8264] synonym: "childhood meningioma (disease)" EXACT [] synonym: "meningioma" BROAD [NCIT:C8264] synonym: "meningioma (disease) of childhood" EXACT [MONDO:patterns/childhood] +synonym: "paediatric meningioma (disease)" EXACT OMO:0003005 [] synonym: "pediatric meningioma" EXACT [NCIT:C8264] synonym: "pediatric meningioma (disease)" EXACT [MONDO:patterns/childhood] xref: DOID:4593 {source="MONDO:equivalentTo"} @@ -48863,6 +50098,7 @@ name: bile duct cancer def: "A malignant neoplasm involving the bile duct" [https://orcid.org/0000-0002-6601-2165] synonym: "bile duct cancer" EXACT [MONDO:patterns/location] synonym: "bile duct tumor" BROAD [DOID:4606, NCIT:C2898] +synonym: "bile duct tumour" BROAD OMO:0003005 [] synonym: "Ca extrahepatic bile ducts" EXACT [DOID:4606] synonym: "cancer of bile duct" EXACT [MONDO:patterns/cancer] synonym: "malignant bile duct neoplasm" EXACT [MONDO:patterns/cancer] @@ -48895,6 +50131,7 @@ synonym: "cancer of biliary tree" EXACT [MONDO:patterns/cancer] synonym: "malignant biliary tree neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of biliary tree" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of biliary tract" EXACT [DOID:4607] +synonym: "malignant tumour of biliary tract" EXACT OMO:0003005 [] xref: DOID:4607 {source="MONDO:equivalentTo"} xref: ICD10CM:C24.9 {source="DOID:4607"} xref: ICD9:156.9 {source="DOID:4607"} @@ -48917,16 +50154,20 @@ alt_id: MONDO:0002393 def: "A benign mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle tissue." [NCIT:C4882] synonym: "benign muscle neoplasm" EXACT [NCIT:C4882] synonym: "benign muscle tumor" EXACT [NCIT:C4882] +synonym: "benign muscle tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of muscle" EXACT [NCIT:C4882] synonym: "benign neoplasm of the muscle" EXACT [NCIT:C4882] synonym: "benign tumor of muscle" EXACT [NCIT:C4882] synonym: "benign tumor of the muscle" EXACT [NCIT:C4882] +synonym: "benign tumour of muscle" EXACT OMO:0003005 [] +synonym: "benign tumour of the muscle" EXACT OMO:0003005 [] synonym: "muscle benign neoplasm" RELATED [DOID:461] synonym: "muscle neoplasm" BROAD [DOID:461] synonym: "muscle tissue neoplasm" EXACT [DOID:461] synonym: "myoma" EXACT [NCIT:C4882] synonym: "myomatous neoplasm" RELATED EXCLUDE [DOID:461] synonym: "myomatous tumor" BROAD [DOID:461, NCIT:C4063] +synonym: "myomatous tumour" BROAD OMO:0003005 [] synonym: "neoplasm of muscle" RELATED EXCLUDE [DOID:461] xref: DOID:2691 {source="MONDO:equivalentTo"} xref: DOID:461 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} @@ -48960,14 +50201,19 @@ synonym: "benign intestinal neoplasm" EXACT [NCIT:C4609] synonym: "benign intestinal neoplasms" EXACT [NCIT:C4609] synonym: "benign intestinal tumor" EXACT [NCIT:C4609] synonym: "benign intestinal tumors" EXACT [NCIT:C4609] +synonym: "benign intestinal tumour" EXACT OMO:0003005 [] +synonym: "benign intestinal tumours" EXACT OMO:0003005 [] synonym: "benign intestine neoplasm" EXACT [NCIT:C4609] synonym: "benign intestine tumor" EXACT [NCIT:C4609] +synonym: "benign intestine tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of intestines" EXACT [NCIT:C4609] synonym: "benign neoplasm of the intestines" EXACT [NCIT:C4609] synonym: "benign neoplasms of large and/or small intestine" EXACT [NCIT:C4609] synonym: "benign neoplasms of the large and/or small intestine" EXACT [NCIT:C4609] synonym: "benign tumor of intestines" EXACT [NCIT:C4609] synonym: "benign tumor of the intestines" EXACT [NCIT:C4609] +synonym: "benign tumour of intestines" EXACT OMO:0003005 [] +synonym: "benign tumour of the intestines" EXACT OMO:0003005 [] synonym: "intestinal neoplasms, benign" EXACT [NCIT:C4609] synonym: "intestinal tumors, benign" EXACT [NCIT:C4609] synonym: "intestine benign neoplasm" EXACT [MONDO:patterns/location] @@ -49100,13 +50346,18 @@ synonym: "malignant neoplasm of retina" EXACT [DOID:4645, MONDO:patterns/cancer, synonym: "malignant neoplasm of the retina" EXACT [NCIT:C3216] synonym: "malignant retina neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3216] synonym: "malignant retina tumor" EXACT [NCIT:C3216] +synonym: "malignant retina tumour" EXACT OMO:0003005 [] synonym: "malignant retinal neoplasm" EXACT [DOID:4645, NCIT:C3216] synonym: "malignant retinal tumor" EXACT [NCIT:C3216] +synonym: "malignant retinal tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of retina" EXACT [NCIT:C3216] synonym: "malignant tumor of the retina" EXACT [NCIT:C3216] +synonym: "malignant tumour of retina" EXACT OMO:0003005 [] +synonym: "malignant tumour of the retina" EXACT OMO:0003005 [] synonym: "neoplasm of retina" BROAD EXCLUDE [DOID:4645] synonym: "retina cancer" EXACT [MONDO:patterns/location] synonym: "retinal tumor" BROAD [DOID:4645, NCIT:C4800] +synonym: "retinal tumour" BROAD OMO:0003005 [] xref: DOID:4645 {source="MONDO:equivalentTo"} xref: EFO:0005716 {source="MONDO:equivalentTo"} xref: ICD10CM:C69.2 {source="DOID:4645"} @@ -49399,6 +50650,8 @@ name: mucoepidermoid esophageal carcinoma def: "A rare carcinoma of the esophagus which contains squamous cells, mucus secreting cells, and cells of an intermediate type. (WHO)" [NCIT:P378] synonym: "esophagus mucoepidermoid carcinoma" EXACT [MONDO:patterns/location] synonym: "mucoepidermoid carcinoma of the esophagus" EXACT [DOID:4686, NCIT:C5343] +synonym: "mucoepidermoid carcinoma of the oesophagus" EXACT OMO:0003005 [] +synonym: "oesophagus mucoepidermoid carcinoma" EXACT OMO:0003005 [] xref: DOID:4686 {source="MONDO:equivalentTo"} xref: NCIT:C5343 {source="DOID:4686", source="MONDO:equivalentTo"} xref: UMLS:C1333461 {source="DOID:4686", source="MONDO:equivalentTo"} @@ -49444,10 +50697,19 @@ id: MONDO:0003097 name: childhood mediastinal neurogenic neoplasm synonym: "childhood mediastinal neurogenic neoplasm" EXACT [NCIT:C5429] synonym: "childhood mediastinal neurogenic tumor" EXACT [NCIT:C5429] +synonym: "childhood mediastinal neurogenic tumour" EXACT OMO:0003005 [] synonym: "childhood neurogenic neoplasm of mediastinum" EXACT [NCIT:C5429] synonym: "childhood neurogenic neoplasm of the mediastinum" EXACT [NCIT:C5429] synonym: "childhood neurogenic tumor of mediastinum" EXACT [NCIT:C5429] synonym: "childhood neurogenic tumor of the mediastinum" EXACT [NCIT:C5429] +synonym: "childhood neurogenic tumour of mediastinum" EXACT OMO:0003005 [] +synonym: "childhood neurogenic tumour of the mediastinum" EXACT OMO:0003005 [] +synonym: "paediatric mediastinal neurogenic neoplasm" EXACT OMO:0003005 [] +synonym: "paediatric mediastinal neurogenic tumour" EXACT OMO:0003005 [] +synonym: "paediatric neurogenic neoplasm of mediastinum" EXACT OMO:0003005 [] +synonym: "paediatric neurogenic neoplasm of the mediastinum" EXACT OMO:0003005 [] +synonym: "paediatric neurogenic tumour of mediastinum" EXACT OMO:0003005 [] +synonym: "paediatric neurogenic tumour of the mediastinum" EXACT OMO:0003005 [] synonym: "pediatric mediastinal neurogenic neoplasm" EXACT [NCIT:C5429] synonym: "pediatric mediastinal neurogenic tumor" EXACT [NCIT:C5429] synonym: "pediatric neurogenic neoplasm of mediastinum" EXACT [NCIT:C5429] @@ -49470,12 +50732,16 @@ def: "A neurogenic tumor that arises from the mediastinum. Neural tumors are the synonym: "malignant mediastinal neurogenic neoplasm" RELATED [DOID:4691] synonym: "mediastinal neural neoplasm" EXACT [NCIT:C6624] synonym: "mediastinal neural tumor" EXACT [NCIT:C6624] +synonym: "mediastinal neural tumour" EXACT OMO:0003005 [] synonym: "mediastinal neurogenic neoplasm" EXACT [NCIT:C6624] synonym: "mediastinal neurogenic tumor" EXACT [NCIT:C6624] +synonym: "mediastinal neurogenic tumour" EXACT OMO:0003005 [] synonym: "neurogenic neoplasm of mediastinum" EXACT [NCIT:C6624] synonym: "neurogenic neoplasm of the mediastinum" EXACT [NCIT:C6624] synonym: "neurogenic tumor of mediastinum" EXACT [DOID:4691, NCIT:C6624] synonym: "neurogenic tumor of the mediastinum" EXACT [NCIT:C6624] +synonym: "neurogenic tumour of mediastinum" EXACT OMO:0003005 [] +synonym: "neurogenic tumour of the mediastinum" EXACT OMO:0003005 [] xref: DOID:4691 {source="MONDO:equivalentTo"} xref: NCIT:C6624 {source="MONDO:equivalentTo", source="DOID:4691"} xref: UMLS:C1334672 {source="MONDO:equivalentTo", source="NCIT:C6624", source="DOID:4691"} @@ -49501,10 +50767,15 @@ synonym: "nerve plexus neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "nerve plexus neoplasms" EXACT [NCIT:C5822] synonym: "nerve plexus tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5822] synonym: "nerve plexus tumors" EXACT [NCIT:C5822] +synonym: "nerve plexus tumour" EXACT OMO:0003005 [] +synonym: "nerve plexus tumours" EXACT OMO:0003005 [] synonym: "neural plexus neoplasms" EXACT [NCIT:C5822] synonym: "neural plexus tumors" EXACT [DOID:4693, NCIT:C5822] +synonym: "neural plexus tumours" EXACT OMO:0003005 [] synonym: "tumor of nerve plexus" EXACT [MONDO:patterns/neoplasm, NCIT:C5822] synonym: "tumor of the nerve plexus" EXACT [NCIT:C5822] +synonym: "tumour of nerve plexus" EXACT OMO:0003005 [] +synonym: "tumour of the nerve plexus" EXACT OMO:0003005 [] xref: DOID:4693 {source="MONDO:equivalentTo"} xref: NCIT:C5822 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:4693"} xref: UMLS:C1334945 {source="MONDO:equivalentTo", source="NCIT:C5822", source="DOID:4693"} @@ -49537,9 +50808,15 @@ synonym: "nerve Root neoplasms" EXACT [NCIT:C5119] synonym: "nerve Root tumor" EXACT [NCIT:C5119] synonym: "nerve root tumor" EXACT [MONDO:patterns/neoplasm] synonym: "nerve Root tumors" EXACT [NCIT:C5119] +synonym: "nerve Root tumour" EXACT OMO:0003005 [] +synonym: "nerve root tumour" EXACT OMO:0003005 [] +synonym: "nerve Root tumours" EXACT OMO:0003005 [] synonym: "tumor of nerve Root" EXACT [DOID:4698, NCIT:C5119] synonym: "tumor of nerve root" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of the nerve Root" EXACT [NCIT:C5119] +synonym: "tumour of nerve Root" EXACT OMO:0003005 [] +synonym: "tumour of nerve root" EXACT OMO:0003005 [] +synonym: "tumour of the nerve Root" EXACT OMO:0003005 [] xref: DOID:4698 {source="MONDO:equivalentTo"} xref: NCIT:C5119 {source="DOID:4698", source="MONDO:equivalentTo"} xref: UMLS:C1334946 {source="DOID:4698", source="MONDO:equivalentTo", source="NCIT:C5119"} @@ -49553,14 +50830,18 @@ name: epicardium cancer def: "A malignant neoplasm involving the epicardium." [https://orcid.org/0000-0002-6601-2165] synonym: "cancer of epicardium" EXACT [MONDO:patterns/cancer] synonym: "epicardial tumor" BROAD [DOID:4699, NCIT:C5347] +synonym: "epicardial tumour" BROAD OMO:0003005 [] synonym: "epicardium cancer" EXACT [MONDO:patterns/location] synonym: "malignant epicardial neoplasm" EXACT [NCIT:C4568] synonym: "malignant epicardial tumor" EXACT [DOID:4699, NCIT:C4568] +synonym: "malignant epicardial tumour" EXACT OMO:0003005 [] synonym: "malignant epicardium neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of epicardium" EXACT [DOID:4699, MONDO:patterns/cancer, NCIT:C4568] synonym: "malignant neoplasm of the epicardium" EXACT [NCIT:C4568] synonym: "malignant tumor of epicardium" EXACT [NCIT:C4568] synonym: "malignant tumor of the epicardium" EXACT [NCIT:C4568] +synonym: "malignant tumour of epicardium" EXACT OMO:0003005 [] +synonym: "malignant tumour of the epicardium" EXACT OMO:0003005 [] xref: DOID:4699 {source="MONDO:equivalentTo"} xref: NCIT:C4568 {source="MONDO:equivalentTo"} xref: NCIT:C5347 {source="DOID:4699"} @@ -49614,6 +50895,8 @@ synonym: "infratentorial neoplasms, malignant" EXACT [NCIT:C4966] synonym: "malignant infratentorial neoplasm" EXACT [NCIT:C4966] synonym: "malignant infratentorial tumor" EXACT [NCIT:C4966] synonym: "malignant infratentorial tumors" EXACT [DOID:4706, NCIT:C4966] +synonym: "malignant infratentorial tumour" EXACT OMO:0003005 [] +synonym: "malignant infratentorial tumours" EXACT OMO:0003005 [] xref: DOID:4706 {source="MONDO:equivalentTo"} xref: ICD10CM:C71.7 {source="DOID:4706"} xref: MESH:D015192 {source="MONDO:equivalentTo", source="DOID:4706"} @@ -49628,10 +50911,13 @@ id: MONDO:0003108 name: cervicomedullary junction neoplasm synonym: "cervicomedullary junction neoplasms" EXACT [NCIT:C5423] synonym: "cervicomedullary junction tumor" EXACT [NCIT:C5423] +synonym: "cervicomedullary junction tumour" EXACT OMO:0003005 [] synonym: "neoplasm of cervicomedullary junction" EXACT [NCIT:C5423] synonym: "neoplasm of the cervicomedullary junction" EXACT [NCIT:C5423] synonym: "tumor of cervicomedullary junction" EXACT [NCIT:C5423] synonym: "tumor of the cervicomedullary junction" EXACT [DOID:4707, NCIT:C5423] +synonym: "tumour of cervicomedullary junction" EXACT OMO:0003005 [] +synonym: "tumour of the cervicomedullary junction" EXACT OMO:0003005 [] xref: DOID:4707 {source="MONDO:equivalentTo"} xref: NCIT:C5423 {source="MONDO:equivalentTo", source="DOID:4707"} xref: UMLS:C1332923 {source="MONDO:equivalentTo", source="NCIT:C5423", source="DOID:4707"} @@ -49689,10 +50975,13 @@ synonym: "neuroendocrine neoplasm of stomach" EXACT [MONDO:patterns/neuroendocri synonym: "neuroendocrine neoplasm of the stomach" EXACT [NCIT:C5696] synonym: "neuroendocrine tumor of stomach" RELATED [Orphanet:100075] synonym: "neuroendocrine tumor of the stomach" EXACT [DOID:4715, NCIT:C5696] +synonym: "neuroendocrine tumour of stomach" RELATED OMO:0003005 [] +synonym: "neuroendocrine tumour of the stomach" EXACT OMO:0003005 [] synonym: "stomach NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "stomach neuroendocrine neoplasm" EXACT [MONDO:patterns/location, NCIT:C5696] synonym: "stomach neuroendocrine tumor" EXACT [MONDO:patterns/location, MONDO:patterns/neuroendocrine_neoplasm] synonym: "stomach neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm] +synonym: "stomach neuroendocrine tumour" EXACT OMO:0003005 [] xref: DOID:4715 {source="MONDO:equivalentTo"} xref: NCIT:C5696 {source="MONDO:equivalentTo", source="DOID:4715", source="MONDO:exact-label-match"} xref: Orphanet:100075 {source="MONDO:equivalentTo"} @@ -49708,12 +50997,15 @@ id: MONDO:0003112 name: malignant gastric germ cell tumor def: "A malignant germ cell tumor that arises from the stomach. It includes choriocarcinoma and immature teratoma." [NCIT:C5486] synonym: "germ cell tumor of the stomach" EXACT [DOID:4716, NCIT:C6448] +synonym: "germ cell tumour of the stomach" EXACT OMO:0003005 [] synonym: "malignant gastric germ cell neoplasm" EXACT [NCIT:C5486] synonym: "malignant gastric germ cell tumor" EXACT [NCIT:C5486] synonym: "malignant germ cell neoplasm of stomach" EXACT [NCIT:C5486] synonym: "malignant germ cell neoplasm of the stomach" EXACT [NCIT:C5486] synonym: "malignant germ cell tumor of stomach" EXACT [NCIT:C5486] synonym: "malignant germ cell tumor of the stomach" EXACT [NCIT:C5486] +synonym: "malignant germ cell tumour of stomach" EXACT OMO:0003005 [] +synonym: "malignant germ cell tumour of the stomach" EXACT OMO:0003005 [] xref: DOID:4716 {source="MONDO:equivalentTo"} xref: NCIT:C5486 {source="MONDO:equivalentTo"} xref: NCIT:C6448 {source="DOID:4716"} @@ -49729,14 +51021,19 @@ id: MONDO:0003113 name: extragonadal germ cell cancer def: "A malignant germ cell tumor that develops as a primary tumor in an anatomic site other than the testis or ovary." [NCIT:C8881] synonym: "extragonadal germ cell malignant tumor" EXACT [DOID:4717] +synonym: "extragonadal germ cell malignant tumour" EXACT OMO:0003005 [] synonym: "extragonadal germ cell tumor, malignant" EXACT [MONDO:patterns/malignant] synonym: "malignant extragonadal germ cell tumor" EXACT [NCIT:C8881] +synonym: "malignant extragonadal germ cell tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of extragonadal germ cell" EXACT [NCIT:C8881] synonym: "malignant neoplasm of the extragonadal germ cell" EXACT [NCIT:C8881] synonym: "malignant tumor of extragonadal germ cell" EXACT [NCIT:C8881] synonym: "malignant tumor of the extragonadal germ cell" EXACT [NCIT:C8881] +synonym: "malignant tumour of extragonadal germ cell" EXACT OMO:0003005 [] +synonym: "malignant tumour of the extragonadal germ cell" EXACT OMO:0003005 [] synonym: "neoplasm of extragonadal germ cell" RELATED EXCLUDE [DOID:4717] synonym: "tumor of extragonadal germ cell" RELATED [DOID:4717] +synonym: "tumour of extragonadal germ cell" RELATED OMO:0003005 [] xref: DOID:4717 {source="MONDO:equivalentTo"} xref: NCIT:C3918 {source="DOID:4717"} xref: NCIT:C8881 {source="MONDO:equivalentTo", source="DOID:4717"} @@ -49821,7 +51118,9 @@ id: MONDO:0003118 name: testicular Brenner tumor def: "An uncommon usually benign neoplasm that arises from the testis. It is characterized by the presence of cysts lined by transitional cells and solid nests of transitional cells in a spindle cell stroma." [NCIT:P378] synonym: "testes, rudimentary Brenner tumor" EXACT [MONDO:patterns/location] +synonym: "testes, rudimentary Brenner tumour" EXACT OMO:0003005 [] synonym: "testis Brenner tumor" EXACT [MONDO:patterns/location] +synonym: "testis Brenner tumour" EXACT OMO:0003005 [] xref: DOID:4739 {source="MONDO:equivalentTo"} xref: NCIT:C39953 {source="MONDO:equivalentTo", source="DOID:4739"} xref: UMLS:C1515281 {source="MONDO:equivalentTo", source="DOID:4739"} @@ -49843,11 +51142,18 @@ synonym: "mixed germ cell neoplasm of the testis" RELATED [NCIT:C6347] synonym: "mixed germ cell tumor" RELATED [ONCOTREE:MGCT] synonym: "mixed germ cell tumor of testis" RELATED [DOID:4743, NCIT:C6347] synonym: "mixed germ cell tumor of the testis" RELATED [NCIT:C6347] +synonym: "mixed germ cell tumour" RELATED OMO:0003005 [] +synonym: "mixed germ cell tumour of testis" RELATED OMO:0003005 [] +synonym: "mixed germ cell tumour of the testis" RELATED OMO:0003005 [] synonym: "mixed testicular germ cell tumor" RELATED [DOID:4743] +synonym: "mixed testicular germ cell tumour" RELATED OMO:0003005 [] synonym: "testicular germ cell tumor (mixed)" RELATED [NCIT:C6347] +synonym: "testicular germ cell tumour (mixed)" RELATED OMO:0003005 [] synonym: "testicular mixed germ cell neoplasm" RELATED [NCIT:C6347] synonym: "testicular mixed germ cell tumor" RELATED [NCIT:C6347] +synonym: "testicular mixed germ cell tumour" RELATED OMO:0003005 [] synonym: "testis mixed germ cell tumor" RELATED [MONDO:patterns/location] +synonym: "testis mixed germ cell tumour" RELATED OMO:0003005 [] xref: DOID:4743 {source="MONDO:equivalentTo"} xref: NCIT:C6347 {source="DOID:4743", source="MONDO:equivalentTo"} xref: ONCOTREE:MGCT {source="MONDO:equivalentTo"} @@ -49903,9 +51209,12 @@ synonym: "Leydig cell neoplasm of testis" EXACT [NCIT:C6356] synonym: "Leydig cell neoplasm of the testis" EXACT [NCIT:C6356] synonym: "Leydig cell tumor of testis" EXACT [NCIT:C6356] synonym: "Leydig cell tumor of the testis" RELATED [NCIT:C6356] +synonym: "Leydig cell tumour of testis" EXACT OMO:0003005 [] +synonym: "Leydig cell tumour of the testis" RELATED OMO:0003005 [] synonym: "testicular Leydig cell neoplasm" EXACT [DOID:4756, NCIT:C6356] synonym: "testicular Leydig cell tumor" EXACT [NCIT:C6356] synonym: "testis Leydig cell tumor" EXACT [MONDO:patterns/location] +synonym: "testis Leydig cell tumour" EXACT OMO:0003005 [] xref: DOID:4756 {source="MONDO:equivalentTo"} xref: EFO:1000569 {source="MONDO:equivalentTo"} xref: NCIT:C6356 {source="DOID:4756", source="MONDO:equivalentTo", source="NCIT:C6356"} @@ -49926,9 +51235,13 @@ synonym: "sex cord-stromal neoplasm of testis" RELATED [NCIT:C6358] synonym: "sex cord-stromal neoplasm of the testis" RELATED [NCIT:C6358] synonym: "sex cord-stromal tumor of testis" EXACT [DOID:4757, NCIT:C6358, Orphanet:363489] synonym: "sex cord-stromal tumor of the testis" RELATED [NCIT:C6358] +synonym: "sex cord-stromal tumour of testis" EXACT OMO:0003005 [] +synonym: "sex cord-stromal tumour of the testis" RELATED OMO:0003005 [] synonym: "testicular sex cord-stromal neoplasm" EXACT [NCIT:C6358] synonym: "testicular sex cord-stromal tumor" EXACT [NCIT:C6358, Orphanet:363489] +synonym: "testicular sex cord-stromal tumour" EXACT OMO:0003005 [] synonym: "testis sex cord-stromal tumor" EXACT [MONDO:patterns/location] +synonym: "testis sex cord-stromal tumour" EXACT OMO:0003005 [] xref: DOID:4757 {source="MONDO:equivalentTo"} xref: ICD10CM:C62.1 {source="Orphanet:363489", source="Orphanet:363489/ntbt"} xref: NCIT:C6358 {source="MONDO:equivalentTo", source="DOID:4757", source="NCIT:C6358"} @@ -50110,15 +51423,18 @@ def: "A central nervous system embryonal tumor, not otherwise specified arising synonym: "C-P angle PNET" EXACT [NCIT:C5436] synonym: "C-P angle primitive neuroectodermal neoplasm" EXACT [NCIT:C5436] synonym: "C-P angle primitive neuroectodermal tumor" EXACT [NCIT:C5436] +synonym: "C-P angle primitive neuroectodermal tumour" EXACT OMO:0003005 [] synonym: "cerebellar Pontine angle PNET" EXACT [NCIT:C5436] synonym: "cerebellar Pontine angle primitive neuroectodermal neoplasm" EXACT [NCIT:C5436] synonym: "cerebellar Pontine angle primitive neuroectodermal tumor" EXACT [NCIT:C5436] +synonym: "cerebellar Pontine angle primitive neuroectodermal tumour" EXACT OMO:0003005 [] synonym: "cerebellopontine angle embryonal tumor, NOS" RELATED EXCLUDE [NCIT:C5436] synonym: "cerebellopontine angle embryonal tumor, not otherwise specified" RELATED EXCLUDE [NCIT:C5436] synonym: "cerebellopontine angle PNET" EXACT [DOID:4787, NCIT:C5436] synonym: "cerebellopontine angle primitive neuroectodermal" RELATED [DOID:4787] synonym: "cerebellopontine angle primitive neuroectodermal neoplasm" EXACT [NCIT:C5436] synonym: "cerebellopontine angle primitive neuroectodermal tumor" EXACT [NCIT:C5436] +synonym: "cerebellopontine angle primitive neuroectodermal tumour" EXACT OMO:0003005 [] synonym: "primitive neuroectodermal neoplasm of C-P angle" EXACT [NCIT:C5436] synonym: "primitive neuroectodermal neoplasm of cerebellar Pontine angle" EXACT [NCIT:C5436] synonym: "primitive neuroectodermal neoplasm of cerebellopontine angle" EXACT [NCIT:C5436] @@ -50131,6 +51447,12 @@ synonym: "primitive neuroectodermal tumor of cerebellopontine angle" EXACT [NCIT synonym: "primitive neuroectodermal tumor of the C-P angle" EXACT [NCIT:C5436] synonym: "primitive neuroectodermal tumor of the cerebellar Pontine angle" EXACT [NCIT:C5436] synonym: "primitive neuroectodermal tumor of the cerebellopontine angle" EXACT [NCIT:C5436] +synonym: "primitive neuroectodermal tumour of C-P angle" EXACT OMO:0003005 [] +synonym: "primitive neuroectodermal tumour of cerebellar Pontine angle" EXACT OMO:0003005 [] +synonym: "primitive neuroectodermal tumour of cerebellopontine angle" EXACT OMO:0003005 [] +synonym: "primitive neuroectodermal tumour of the C-P angle" EXACT OMO:0003005 [] +synonym: "primitive neuroectodermal tumour of the cerebellar Pontine angle" EXACT OMO:0003005 [] +synonym: "primitive neuroectodermal tumour of the cerebellopontine angle" EXACT OMO:0003005 [] xref: DOID:4787 {source="MONDO:equivalentTo"} xref: NCIT:C5436 {source="DOID:4787", source="MONDO:equivalentTo"} xref: UMLS:C1332904 {source="DOID:4787", source="MONDO:equivalentTo", source="NCIT:C5436"} @@ -50142,12 +51464,14 @@ id: MONDO:0003142 name: intracranial primitive neuroectodermal tumor def: "A primitive neuroectodermal tumor that involves the brain." [MONDO:patterns/location] synonym: "brain primitive neuroectodermal tumor" EXACT [MONDO:design_pattern, MONDO:patterns/location] +synonym: "brain primitive neuroectodermal tumour" EXACT OMO:0003005 [] synonym: "intracranial embryonal tumor, NOS" RELATED EXCLUDE [NCIT:C5817] synonym: "intracranial embryonal tumor, not otherwise specified" RELATED EXCLUDE [NCIT:C5817] synonym: "intracranial PNET" EXACT [DOID:4788, NCIT:C5817] synonym: "intracranial primitive neuroectodermal neoplasm" EXACT [NCIT:C5817] synonym: "intracranial primitive neuroectodermal tumor" EXACT [NCIT:C5817] synonym: "primitive neuroectodermal tumor of brain" EXACT [MONDO:design_pattern] +synonym: "primitive neuroectodermal tumour of brain" EXACT OMO:0003005 [] xref: DOID:4788 {source="MONDO:equivalentTo"} xref: NCIT:C5817 {source="MONDO:equivalentTo", source="DOID:4788"} xref: UMLS:C1334246 {source="NCIT:C5817", source="MONDO:equivalentTo", source="DOID:4788"} @@ -50206,6 +51530,7 @@ name: supratentorial primitive neuroectodermal tumor def: "A central nervous system embryonal tumor, not otherwise specified arising from the supratentorial region." [NCIT:P378] synonym: "CNS/supratentorial PNET" EXACT [NCIT:C6968] synonym: "supratent. primitive neuro. tumor" EXACT [NCIT:C6968] +synonym: "supratent. primitive neuro. tumour" EXACT OMO:0003005 [] synonym: "supratentorial embryonal tumor, NOS" RELATED EXCLUDE [NCIT:C6968] synonym: "supratentorial embryonal tumor, not otherwise specified" RELATED EXCLUDE [NCIT:C6968] synonym: "supratentorial PNET" EXACT [DOID:4791, NCIT:C6968] @@ -50310,6 +51635,7 @@ synonym: "adult brain stem glioma" EXACT [NCIT:C9091] synonym: "adult brainstem glioma" EXACT [NCIT:C9091] synonym: "adult brainstem neuroglial neoplasm" EXACT [NCIT:C9091] synonym: "adult brainstem neuroglial tumor" EXACT [DOID:4813, NCIT:C9091] +synonym: "adult brainstem neuroglial tumour" EXACT OMO:0003005 [] synonym: "brain stem glioma" BROAD [NCIT:C9091] synonym: "brain stem glioma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] synonym: "glioma of adult brain stem" EXACT [NCIT:C9091] @@ -50452,6 +51778,7 @@ replaced_by: MONDO:0016692 id: MONDO:0003163 name: cauda equina intradural extramedullary astrocytoma synonym: "intradural extramedullary astrocytic tumor of the Cauda equina" EXACT [DOID:4846, NCIT:C5408] +synonym: "intradural extramedullary astrocytic tumour of the Cauda equina" EXACT OMO:0003005 [] synonym: "intradural extramedullary astrocytoma of Cauda equina" EXACT [NCIT:C5408] synonym: "intradural extramedullary astrocytoma of the Cauda equina" EXACT [NCIT:C5408] synonym: "intradural extramedullary Cauda equina astrocytoma" EXACT [NCIT:C5408] @@ -50468,11 +51795,15 @@ def: "A neoplasm involving a cauda equina." [MONDO:patterns/neoplasm] synonym: "cauda equina neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "Cauda equina neoplasms" EXACT [NCIT:C5479] synonym: "cauda equina tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "cauda equina tumour" EXACT OMO:0003005 [] synonym: "neoplasm of cauda equina" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the Cauda equina" EXACT [NCIT:C5479] synonym: "tumor of Cauda equina" EXACT [NCIT:C5479] synonym: "tumor of cauda equina" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of the Cauda equina" EXACT [DOID:4847, NCIT:C5479] +synonym: "tumour of Cauda equina" EXACT OMO:0003005 [] +synonym: "tumour of cauda equina" EXACT OMO:0003005 [] +synonym: "tumour of the Cauda equina" EXACT OMO:0003005 [] xref: DOID:4847 {source="MONDO:equivalentTo"} xref: NCIT:C5479 {source="MONDO:equivalentTo", source="DOID:4847"} xref: SCTID:126963001 {source="MONDO:equivalentTo", source="DOID:4847"} @@ -50573,6 +51904,7 @@ synonym: "astrocytoma (excluding glioblastoma) of pineal body" EXACT [MONDO:desi synonym: "astrocytoma of pineal gland" EXACT [NCIT:C8274] synonym: "astrocytoma of the pineal gland" EXACT [NCIT:C8274] synonym: "pineal astrocytic tumor" EXACT [DOID:4858, NCIT:C8274] +synonym: "pineal astrocytic tumour" EXACT OMO:0003005 [] synonym: "pineal astrocytoma" EXACT [NCIT:C8274] synonym: "pineal body astrocytoma" EXACT [MONDO:patterns/location] synonym: "pineal body astrocytoma (excluding glioblastoma)" EXACT [MONDO:patterns/location] @@ -50780,6 +52112,7 @@ synonym: "cancer of trachea" BROAD [NCIT:C9347] synonym: "carcinoma of the trachea" EXACT [DOID:4876, NCIT:C9347] synonym: "carcinoma of trachea" EXACT [MONDO:patterns/carcinoma, NCIT:C9347] synonym: "Pancoast's tumor" RELATED EXCLUDE [DOID:4876] +synonym: "Pancoast's tumour" RELATED OMO:0003005 [] synonym: "trachea cancer" BROAD [NCIT:C9347] synonym: "trachea carcinoma" EXACT [MONDO:patterns/location, NCIT:C9347] synonym: "tracheal carcinoma" EXACT [NCIT:C9347] @@ -50828,12 +52161,17 @@ id: MONDO:0003186 name: esophageal adenoid cystic carcinoma def: "An infrequent esophageal carcinoma arising from esophageal glands. (WHO)" [NCIT:C5342] synonym: "adenoid cystic carcinoma of esophagus" EXACT [NCIT:C5342] +synonym: "adenoid cystic carcinoma of oesophagus" EXACT OMO:0003005 [] synonym: "adenoid cystic carcinoma of the esophagus" EXACT [NCIT:C5342] +synonym: "adenoid cystic carcinoma of the oesophagus" EXACT OMO:0003005 [] synonym: "adenoid cystic carcinoma, esophagus" EXACT [DOID:4878, NCIT:C5342] +synonym: "adenoid cystic carcinoma, oesophagus" EXACT OMO:0003005 [] synonym: "adenoid cystic esophagus carcinoma" EXACT [NCIT:C5342] +synonym: "adenoid cystic oesophagus carcinoma" EXACT OMO:0003005 [] synonym: "esophageal adenoid cystic cancer" EXACT [NCIT:C5342] synonym: "esophageal adenoid cystic carcinoma" EXACT [NCIT:C5342] synonym: "esophagus adenoid cystic carcinoma" EXACT [MONDO:patterns/location, NCIT:C5342] +synonym: "oesophagus adenoid cystic carcinoma" EXACT OMO:0003005 [] xref: DOID:4878 {source="MONDO:equivalentTo"} xref: NCIT:C5342 {source="MONDO:equivalentTo", source="DOID:4878", source="MONDO:exact-label-match"} xref: UMLS:C1333441 {source="NCIT:C5342", source="MONDO:equivalentTo", source="DOID:4878"} @@ -50923,7 +52261,9 @@ def: "A benign or malignant neoplasm that arises from the rete ovarii which is l synonym: "neoplasm of rete ovarii" EXACT [MONDO:patterns/neoplasm] synonym: "rete ovarii neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "rete ovarii tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "rete ovarii tumour" EXACT OMO:0003005 [] synonym: "tumor of rete ovarii" EXACT [MONDO:patterns/neoplasm] +synonym: "tumour of rete ovarii" EXACT OMO:0003005 [] xref: DOID:4895 {source="MONDO:equivalentTo"} xref: NCIT:C40016 {source="DOID:4895", source="MONDO:equivalentTo"} xref: UMLS:C1514909 {source="DOID:4895", source="MONDO:equivalentTo", source="NCIT:C40016"} @@ -51321,10 +52661,14 @@ synonym: "malignant apocrine neoplasm of skin" EXACT [NCIT:C6800] synonym: "malignant apocrine neoplasm of the skin" EXACT [NCIT:C6800] synonym: "malignant apocrine skin neoplasm" EXACT [NCIT:C6800] synonym: "malignant apocrine skin tumor" EXACT [NCIT:C6800] +synonym: "malignant apocrine skin tumour" EXACT OMO:0003005 [] synonym: "malignant apocrine sweat gland neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant apocrine tumor" EXACT [DOID:4934, NCIT:C6800] synonym: "malignant apocrine tumor of skin" EXACT [NCIT:C6800] synonym: "malignant apocrine tumor of the skin" EXACT [NCIT:C6800] +synonym: "malignant apocrine tumour" EXACT OMO:0003005 [] +synonym: "malignant apocrine tumour of skin" EXACT OMO:0003005 [] +synonym: "malignant apocrine tumour of the skin" EXACT OMO:0003005 [] synonym: "malignant neoplasm of apocrine sweat gland" EXACT [MONDO:patterns/cancer] xref: DOID:4934 {source="MONDO:equivalentTo"} xref: NCIT:C6800 {source="MONDO:equivalentTo", source="DOID:4934"} @@ -51441,9 +52785,11 @@ def: "A primary tumor of the central nervous system that arises from leptomening synonym: "central nervous system melanocytic neoplasm" EXACT [MONDO:patterns/location, NCIT:C5504] synonym: "central nervous system melanocytic neoplasms" EXACT [NCIT:C5504] synonym: "central nervous system melanocytic tumor" EXACT [NCIT:C5504] +synonym: "central nervous system melanocytic tumour" EXACT OMO:0003005 [] synonym: "central nervous system primary melanocytic lesion" RELATED [DOID:4955] synonym: "CNS melanocytic neoplasm" EXACT [NCIT:C5504] synonym: "CNS melanocytic tumor" EXACT [NCIT:C5504] +synonym: "CNS melanocytic tumour" EXACT OMO:0003005 [] synonym: "melanocytic neoplasm of central nervous system" EXACT [NCIT:C5504] synonym: "melanocytic neoplasm of CNS" EXACT [NCIT:C5504] synonym: "melanocytic neoplasm of the central nervous system" EXACT [NCIT:C5504] @@ -51452,6 +52798,10 @@ synonym: "melanocytic tumor of central nervous system" EXACT [NCIT:C5504] synonym: "melanocytic tumor of CNS" EXACT [NCIT:C5504] synonym: "melanocytic tumor of the central nervous system" EXACT [NCIT:C5504] synonym: "melanocytic tumor of the CNS" EXACT [DOID:4955, NCIT:C5504] +synonym: "melanocytic tumour of central nervous system" EXACT OMO:0003005 [] +synonym: "melanocytic tumour of CNS" EXACT OMO:0003005 [] +synonym: "melanocytic tumour of the central nervous system" EXACT OMO:0003005 [] +synonym: "melanocytic tumour of the CNS" EXACT OMO:0003005 [] synonym: "primary melanocytic lesion of meninges" RELATED [DOID:4955] synonym: "primary melanocytic lesions of the CNS" RELATED [DOID:4955, NCIT:C4661] xref: DOID:4955 {source="MONDO:equivalentTo"} @@ -51475,6 +52825,7 @@ synonym: "hemangiopericytoma of the central nervous system" RELATED [ONCOTREE:HP synonym: "hemangiopericytoma of the meninges" EXACT [NCIT:C4660] synonym: "meningeal cluster hemangiopericytoma" EXACT [MONDO:patterns/location] synonym: "meningeal cluster spindle cell tumor" EXACT [MONDO:patterns/location] +synonym: "meningeal cluster spindle cell tumour" EXACT OMO:0003005 [] synonym: "meningeal hemangiopericytoma" EXACT [DOID:4957, NCIT:C4660] synonym: "meningeal solitary fibrous tumor/hemangiopericytoma" EXACT [NCIT:C4660] synonym: "meninges hemangiopericytoma" EXACT [NCIT:C4660] @@ -51620,6 +52971,7 @@ id: MONDO:0003234 name: optic nerve astrocytoma def: "A astrocytoma (excluding glioblastoma) that involves the cranial nerve II." [MONDO:patterns/location] synonym: "astrocytic tumor of optic nerve" EXACT [DOID:4991, NCIT:C6769] +synonym: "astrocytic tumour of optic nerve" EXACT OMO:0003005 [] synonym: "astrocytoma (excluding glioblastoma) of cranial nerve II" EXACT [MONDO:design_pattern] synonym: "astrocytoma of optic nerve" EXACT [NCIT:C6769] synonym: "astrocytoma of the optic nerve" EXACT [NCIT:C6769] @@ -51791,15 +53143,23 @@ name: central nervous system mesenchymal non-meningothelial tumor def: "A benign or malignant mesenchymal neoplasm originating in the central nervous system or the meninges and showing fibrous, fibrohistiocytic, adipose, myoid, endothelial, chondroid or osseous, but not meningothelial differentiation. Depending on the histological features and clinical behavior of these neoplasms, their grade ranges from benign (WHO grade I) to highly malignant (WHO grade IV). (Adapted from WHO)" [NCIT:P378] synonym: "central nervous system mesenchymal, non-meningothelial neoplasm" EXACT [NCIT:C5449] synonym: "central nervous system mesenchymal, non-meningothelial tumor" EXACT [NCIT:C5449] +synonym: "central nervous system mesenchymal, non-meningothelial tumour" EXACT OMO:0003005 [] synonym: "central nervous system soft tissue neoplasm" EXACT [NCIT:C5449] synonym: "central nervous system soft tissue tumor" EXACT [NCIT:C5449] +synonym: "central nervous system soft tissue tumour" EXACT OMO:0003005 [] synonym: "CNS soft tissue neoplasm" EXACT [NCIT:C5449] synonym: "CNS soft tissue tumor" EXACT [NCIT:C5449] +synonym: "CNS soft tissue tumour" EXACT OMO:0003005 [] synonym: "mesenchymal non-meningothelial tumor of the central nervous system" EXACT [NCIT:C5449] +synonym: "mesenchymal non-meningothelial tumour of the central nervous system" EXACT OMO:0003005 [] synonym: "mesenchymal, non-meningothelial tumor of central nervous system" EXACT [NCIT:C5449] synonym: "mesenchymal, non-meningothelial tumor of CNS" EXACT [NCIT:C5449] synonym: "mesenchymal, non-meningothelial tumor of the CNS" EXACT [NCIT:C5449] +synonym: "mesenchymal, non-meningothelial tumour of central nervous system" EXACT OMO:0003005 [] +synonym: "mesenchymal, non-meningothelial tumour of CNS" EXACT OMO:0003005 [] +synonym: "mesenchymal, non-meningothelial tumour of the CNS" EXACT OMO:0003005 [] synonym: "non-meningothelial mesenchymal tumor" EXACT [DOID:502, NCIT:C6972] +synonym: "non-meningothelial mesenchymal tumour" EXACT OMO:0003005 [] synonym: "soft tissue neoplasm of central nervous system" EXACT [NCIT:C5449] synonym: "soft tissue neoplasm of CNS" EXACT [NCIT:C5449] synonym: "soft tissue neoplasm of the central nervous system" EXACT [NCIT:C5449] @@ -51808,6 +53168,10 @@ synonym: "soft tissue tumor of central nervous system" EXACT [NCIT:C5449] synonym: "soft tissue tumor of CNS" EXACT [NCIT:C5449] synonym: "soft tissue tumor of the central nervous system" EXACT [NCIT:C5449] synonym: "soft tissue tumor of the CNS" EXACT [NCIT:C5449] +synonym: "soft tissue tumour of central nervous system" EXACT OMO:0003005 [] +synonym: "soft tissue tumour of CNS" EXACT OMO:0003005 [] +synonym: "soft tissue tumour of the central nervous system" EXACT OMO:0003005 [] +synonym: "soft tissue tumour of the CNS" EXACT OMO:0003005 [] xref: DOID:502 {source="MONDO:equivalentTo"} xref: NCIT:C5449 {source="MONDO:equivalentTo"} xref: UMLS:C1332893 {source="MONDO:equivalentTo", source="NCIT:C5449"} @@ -51854,16 +53218,21 @@ name: adult pineal parenchymal tumor def: "A pineal parenchymal cell neoplasm (pineocytoma or pineoblastoma) occurring in adults." [NCIT:C8273] synonym: "adult pineal gland neoplasm" EXACT [NCIT:C8273] synonym: "adult pineal gland tumor" EXACT [NCIT:C8273] +synonym: "adult pineal gland tumour" EXACT OMO:0003005 [] synonym: "adult pineal parenchymal cell neoplasm" EXACT [NCIT:C8273] synonym: "adult pineal parenchymal cell tumor" EXACT [NCIT:C8273] +synonym: "adult pineal parenchymal cell tumour" EXACT OMO:0003005 [] synonym: "adult pineal parenchymal neoplasm" EXACT [DOID:5031, NCIT:C8273] synonym: "adult pineal parenchymal tumor" EXACT [NCIT:C8273] synonym: "parenchymal neoplasm of adult pineal gland" EXACT [NCIT:C8273] synonym: "parenchymal neoplasm of the adult pineal gland" EXACT [NCIT:C8273] synonym: "parenchymal tumor of adult pineal gland" EXACT [NCIT:C8273] synonym: "parenchymal tumor of the adult pineal gland" EXACT [NCIT:C8273] +synonym: "parenchymal tumour of adult pineal gland" EXACT OMO:0003005 [] +synonym: "parenchymal tumour of the adult pineal gland" EXACT OMO:0003005 [] synonym: "pineal parenchymal cell neoplasm of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] synonym: "pineal parenchymal cell tumor" BROAD [NCIT:C8273] +synonym: "pineal parenchymal cell tumour" BROAD OMO:0003005 [] xref: DOID:5031 {source="MONDO:equivalentTo"} xref: NCIT:C8273 {source="MONDO:equivalentTo", source="DOID:5031"} xref: UMLS:C0280794 {source="MONDO:equivalentTo", source="DOID:5031", source="NCIT:C8273"} @@ -51882,20 +53251,27 @@ synonym: "malignant neoplasm of pineal gland" EXACT [NCIT:C3573] synonym: "malignant neoplasm of the pineal gland" EXACT [NCIT:C3573] synonym: "malignant pineal area neoplasm" EXACT [NCIT:C3573] synonym: "malignant pineal area tumor" EXACT [NCIT:C3573] +synonym: "malignant pineal area tumour" EXACT OMO:0003005 [] synonym: "malignant pineal body neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant pineal gland neoplasm" EXACT [NCIT:C3573] synonym: "malignant pineal gland tumor" EXACT [NCIT:C3573] +synonym: "malignant pineal gland tumour" EXACT OMO:0003005 [] synonym: "malignant pineal region neoplasm" EXACT [NCIT:C3573] synonym: "malignant pineal region tumor" EXACT [DOID:5032, NCIT:C3573] +synonym: "malignant pineal region tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of pineal gland" EXACT [DOID:5032, NCIT:C3573] synonym: "malignant tumor of the pineal gland" EXACT [NCIT:C3573] +synonym: "malignant tumour of pineal gland" EXACT OMO:0003005 [] +synonym: "malignant tumour of the pineal gland" EXACT OMO:0003005 [] synonym: "neoplasm of pineal gland" BROAD EXCLUDE [DOID:5032] synonym: "neoplasm of the pineal region" BROAD [DOID:5032] synonym: "pineal body cancer" EXACT [MONDO:patterns/location] synonym: "pineal body neoplasm" BROAD EXCLUDE [DOID:5032] synonym: "pinealoma" RELATED [DOID:5032] synonym: "pineocytic tumor" BROAD [DOID:5032] +synonym: "pineocytic tumour" BROAD OMO:0003005 [] synonym: "tumor of the pineal region" BROAD [DOID:5032] +synonym: "tumour of the pineal region" BROAD OMO:0003005 [] xref: DOID:5032 {source="MONDO:equivalentTo"} xref: ICD10CM:C75.3 {source="DOID:5032"} xref: ICD9:194.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:5032"} @@ -51942,16 +53318,28 @@ synonym: "esophageal granular cell neoplasm" EXACT [NCIT:C5700] synonym: "esophageal granular cell tumor" EXACT [NCIT:C5700] synonym: "esophagus granular cell tumor" EXACT [MONDO:patterns/location] synonym: "granular cell esophageal tumor" EXACT [NCIT:C5700] +synonym: "granular cell esophageal tumour" EXACT OMO:0003005 [] synonym: "granular cell esophagus myoblastoma" EXACT [NCIT:C5700] synonym: "granular cell esophagus neoplasm" EXACT [NCIT:C5700] synonym: "granular cell esophagus tumor" EXACT [NCIT:C5700] synonym: "granular cell myoblastoma of esophagus" EXACT [NCIT:C5700] +synonym: "granular cell myoblastoma of oesophagus" EXACT OMO:0003005 [] synonym: "granular cell myoblastoma of the esophagus" EXACT [NCIT:C5700] +synonym: "granular cell myoblastoma of the oesophagus" EXACT OMO:0003005 [] synonym: "granular cell neoplasm of esophagus" EXACT [NCIT:C5700] +synonym: "granular cell neoplasm of oesophagus" EXACT OMO:0003005 [] synonym: "granular cell neoplasm of the esophagus" EXACT [NCIT:C5700] +synonym: "granular cell neoplasm of the oesophagus" EXACT OMO:0003005 [] +synonym: "granular cell oesophagus myoblastoma" EXACT OMO:0003005 [] +synonym: "granular cell oesophagus neoplasm" EXACT OMO:0003005 [] +synonym: "granular cell oesophagus tumour" EXACT OMO:0003005 [] synonym: "granular cell tumor of esophagus" EXACT [DOID:5040, NCIT:C5700] synonym: "granular cell tumor of the esophagus" EXACT [NCIT:C5700] +synonym: "granular cell tumour of oesophagus" EXACT OMO:0003005 [] +synonym: "granular cell tumour of the oesophagus" EXACT OMO:0003005 [] synonym: "malignant granular cell esophageal tumor" RELATED [DOID:5040] +synonym: "malignant granular cell esophageal tumour" RELATED OMO:0003005 [] +synonym: "oesophagus granular cell tumour" EXACT OMO:0003005 [] xref: DOID:5040 {source="MONDO:equivalentTo"} xref: NCIT:C5700 {source="MONDO:equivalentTo", source="DOID:5040"} xref: UMLS:C1333448 {source="MONDO:equivalentTo", source="DOID:5040", source="NCIT:C5700"} @@ -51969,6 +53357,7 @@ synonym: "granular cell tumor, malignant (morphologic abnormality)" EXACT [DOID: synonym: "malignant granular cell myoblastoma" EXACT [MONDO:0021087, NCIT:C4336] synonym: "malignant granular cell neoplasm" EXACT [DOID:5042, NCIT:C4336] synonym: "malignant granular cell tumor" EXACT [NCIT:C4336] +synonym: "malignant granular cell tumour" EXACT OMO:0003005 [] synonym: "myoblastoma, malignant" EXACT [NCIT:C4336] xref: DOID:5042 {source="MONDO:equivalentTo"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -51986,7 +53375,9 @@ id: MONDO:0003253 name: vulvar granular cell tumor def: "A usually benign granular cell tumor that arises from the vulva." [NCIT:C40328] synonym: "granular cell tumor of mammalian vulva" EXACT [MONDO:design_pattern] +synonym: "granular cell tumour of mammalian vulva" EXACT OMO:0003005 [] synonym: "mammalian vulva granular cell tumor" EXACT [MONDO:patterns/location] +synonym: "mammalian vulva granular cell tumour" EXACT OMO:0003005 [] synonym: "vulvar granular cell tumor" EXACT [NCIT:C40328] xref: DOID:5043 {source="MONDO:equivalentTo"} xref: NCIT:C40328 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5043"} @@ -52002,11 +53393,15 @@ name: cardiac granular cell neoplasm def: "A very rare granular cell tumor that arises from the heart." [NCIT:C5360] synonym: "Cardiac granular cell neoplasm" EXACT [NCIT:C5360] synonym: "Cardiac granular cell tumor" EXACT [NCIT:C5360] +synonym: "Cardiac granular cell tumour" EXACT OMO:0003005 [] synonym: "granular cell neoplasm of heart" EXACT [NCIT:C5360] synonym: "granular cell neoplasm of the heart" EXACT [NCIT:C5360] synonym: "granular cell tumor of heart" EXACT [DOID:5044, NCIT:C5360] synonym: "granular cell tumor of the heart" EXACT [NCIT:C5360] +synonym: "granular cell tumour of heart" EXACT OMO:0003005 [] +synonym: "granular cell tumour of the heart" EXACT OMO:0003005 [] synonym: "heart granular cell tumor" EXACT [MONDO:patterns/location] +synonym: "heart granular cell tumour" EXACT OMO:0003005 [] xref: DOID:5044 {source="MONDO:equivalentTo"} xref: NCIT:C5360 {source="MONDO:equivalentTo", source="DOID:5044"} xref: UMLS:C1332845 {source="NCIT:C5360", source="MONDO:equivalentTo", source="DOID:5044"} @@ -52028,10 +53423,14 @@ synonym: "granular cell neoplasm of mediastinum" EXACT [NCIT:C6601] synonym: "granular cell neoplasm of the mediastinum" EXACT [NCIT:C6601] synonym: "granular cell tumor of mediastinum" EXACT [DOID:5046, NCIT:C6601] synonym: "granular cell tumor of the mediastinum" EXACT [NCIT:C6601] +synonym: "granular cell tumour of mediastinum" EXACT OMO:0003005 [] +synonym: "granular cell tumour of the mediastinum" EXACT OMO:0003005 [] synonym: "mediastinal granular cell myoblastoma" EXACT [NCIT:C6601] synonym: "mediastinal granular cell neoplasm" EXACT [NCIT:C6601] synonym: "mediastinal granular cell tumor" EXACT [NCIT:C6601] +synonym: "mediastinal granular cell tumour" EXACT OMO:0003005 [] synonym: "mediastinum granular cell tumor" EXACT [MONDO:patterns/location] +synonym: "mediastinum granular cell tumour" EXACT OMO:0003005 [] xref: DOID:5046 {source="MONDO:equivalentTo"} xref: NCIT:C6601 {source="DOID:5046", source="MONDO:equivalentTo"} xref: UMLS:C1334656 {source="DOID:5046", source="MONDO:equivalentTo", source="NCIT:C6601"} @@ -52050,6 +53449,11 @@ synonym: "granular cell tumor of neurohypophysis" EXACT [] synonym: "granular cell tumor of the neurohypophysis" EXACT [MONDO:0006236, NCIT:C7017] synonym: "granular cell tumor of the Neurohypophysis (WHO grade I)" EXACT [NCIT:C7017] synonym: "granular cell tumor of the posterior pituitary gland" EXACT [NCIT:C7017] +synonym: "granular cell tumour of Neurohypophysis" EXACT OMO:0003005 [] +synonym: "granular cell tumour of neurohypophysis" EXACT OMO:0003005 [] +synonym: "granular cell tumour of the neurohypophysis" EXACT OMO:0003005 [] +synonym: "granular cell tumour of the Neurohypophysis (WHO grade I)" EXACT OMO:0003005 [] +synonym: "granular cell tumour of the posterior pituitary gland" EXACT OMO:0003005 [] synonym: "neurohypophysis granular cell tumor" EXACT [MONDO:patterns/location] xref: DOID:5047 {source="MONDO:equivalentTo"} xref: EFO:1000285 {source="MONDO:equivalentTo"} @@ -52072,12 +53476,17 @@ synonym: "neurohypophysis neoplasm" EXACT [] synonym: "neurohypophysis neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "Neurohypophysis tumor" EXACT [NCIT:C7157] synonym: "neurohypophysis tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "Neurohypophysis tumour" EXACT OMO:0003005 [] +synonym: "neurohypophysis tumour" EXACT OMO:0003005 [] synonym: "PITUICYTOMA, benign" EXACT [NCIT:C7157] synonym: "posterior pituitary gland neoplasm" EXACT [NCIT:C7157] synonym: "posterior pituitary gland tumor" EXACT [NCIT:C7157] +synonym: "posterior pituitary gland tumour" EXACT OMO:0003005 [] synonym: "posterior pituitary neoplasm" EXACT [NCIT:C7157] synonym: "posterior pituitary tumor" EXACT [DOID:5048, NCIT:C7157] +synonym: "posterior pituitary tumour" EXACT OMO:0003005 [] synonym: "tumor of neurohypophysis" EXACT [MONDO:patterns/neoplasm] +synonym: "tumour of neurohypophysis" EXACT OMO:0003005 [] xref: DOID:5048 {source="MONDO:equivalentTo"} xref: NCIT:C7157 {source="DOID:5048", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C1334957 {source="DOID:5048", source="NCIT:C7157", source="MONDO:equivalentTo"} @@ -52112,11 +53521,15 @@ synonym: "adult cerebellar neoplasm" EXACT [NCIT:C5968] synonym: "adult cerebellar neoplasms" EXACT [NCIT:C5968] synonym: "adult cerebellar tumor" EXACT [NCIT:C5968] synonym: "adult cerebellar tumors" EXACT [NCIT:C5968] +synonym: "adult cerebellar tumour" EXACT OMO:0003005 [] +synonym: "adult cerebellar tumours" EXACT OMO:0003005 [] synonym: "cerebellar neoplasm of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] synonym: "neoplasm of adult cerebellum" EXACT [NCIT:C5968] synonym: "neoplasm of the adult cerebellum" EXACT [NCIT:C5968] synonym: "tumor of adult cerebellum" EXACT [DOID:5056, NCIT:C5968] synonym: "tumor of the adult cerebellum" EXACT [NCIT:C5968] +synonym: "tumour of adult cerebellum" EXACT OMO:0003005 [] +synonym: "tumour of the adult cerebellum" EXACT OMO:0003005 [] xref: DOID:5056 {source="MONDO:equivalentTo"} xref: NCIT:C5968 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5056"} xref: UMLS:C1332197 {source="MONDO:equivalentTo", source="DOID:5056", source="NCIT:C5968"} @@ -52164,10 +53577,20 @@ synonym: "childhood cerebellar neoplasm" EXACT [NCIT:C5970] synonym: "childhood cerebellar neoplasms" EXACT [NCIT:C5970] synonym: "childhood cerebellar tumor" EXACT [NCIT:C5970] synonym: "childhood cerebellar tumors" EXACT [NCIT:C5970] +synonym: "childhood cerebellar tumour" EXACT OMO:0003005 [] +synonym: "childhood cerebellar tumours" EXACT OMO:0003005 [] synonym: "childhood neoplasm of cerebellum" EXACT [NCIT:C5970] synonym: "childhood neoplasm of the cerebellum" EXACT [NCIT:C5970] synonym: "childhood tumor of cerebellum" EXACT [NCIT:C5970] synonym: "childhood tumor of the cerebellum" EXACT [NCIT:C5970] +synonym: "childhood tumour of cerebellum" EXACT OMO:0003005 [] +synonym: "childhood tumour of the cerebellum" EXACT OMO:0003005 [] +synonym: "paediatric cerebellar neoplasm" EXACT OMO:0003005 [] +synonym: "paediatric cerebellar tumour" EXACT OMO:0003005 [] +synonym: "paediatric neoplasm of cerebellum" EXACT OMO:0003005 [] +synonym: "paediatric neoplasm of the cerebellum" EXACT OMO:0003005 [] +synonym: "paediatric tumour of cerebellum" EXACT OMO:0003005 [] +synonym: "paediatric tumour of the cerebellum" EXACT OMO:0003005 [] synonym: "pediatric cerebellar neoplasm" EXACT [NCIT:C5970] synonym: "pediatric cerebellar tumor" EXACT [NCIT:C5970] synonym: "pediatric neoplasm of cerebellum" EXACT [NCIT:C5970] @@ -52246,7 +53669,9 @@ subset: ordo_group_of_disorders {source="Orphanet:301"} synonym: "ependymal neoplasm" EXACT [DOID:5074, NCIT:C6770] synonym: "ependymal tumor" EXACT [MONDO:0017605, NCIT:C6770] synonym: "ependymal tumors" EXACT [DOID:5074] +synonym: "ependymal tumours" EXACT OMO:0003005 [] synonym: "ependymomal tumor" RELATED [ONCOTREE:EPMT] +synonym: "ependymomal tumour" RELATED OMO:0003005 [] xref: EFO:1000027 {source="MONDO:equivalentTo"} xref: ICD10CM:C71.7 {source="Orphanet:301", source="Orphanet:301/ntbt"} xref: NCIT:C6770 {source="MONDO:equivalentTo"} @@ -52273,11 +53698,13 @@ synonym: "glioma, mixed" EXACT [NCIT:C3903] synonym: "glioma, mixed, malignant" EXACT [NCIT:C3903] synonym: "mixed glial neoplasm" EXACT [NCIT:C3903] synonym: "mixed glial tumor" EXACT [NCIT:C3903] +synonym: "mixed glial tumour" EXACT OMO:0003005 [] synonym: "mixed glioma" EXACT [NCIT:C3903] synonym: "mixed glioma (morphologic abnormality)" EXACT [DOID:5076] synonym: "mixed gliomas" EXACT [DOID:5076, MTH:NOCODE] synonym: "mixed neuroglial neoplasm" EXACT [NCIT:C3903] synonym: "mixed neuroglial tumor" EXACT [DOID:5076, NCIT:C3903] +synonym: "mixed neuroglial tumour" EXACT OMO:0003005 [] xref: DOID:5076 {source="MONDO:equivalentTo"} xref: ICDO:9382/3 {source="NCIT:C3903"} xref: MESH:D005910 {source="DOID:5076"} @@ -52328,11 +53755,15 @@ synonym: "malignant neoplasm of sternum" EXACT [MONDO:patterns/cancer, NCIT:C840 synonym: "malignant neoplasm of the sternum" EXACT [NCIT:C8408] synonym: "malignant sternal neoplasm" EXACT [DOID:5090] synonym: "malignant sternal tumor" EXACT [DOID:5090, NCIT:C8408] +synonym: "malignant sternal tumour" EXACT OMO:0003005 [] synonym: "malignant sternum neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of sternum" EXACT [NCIT:C8408] synonym: "malignant tumor of the sternum" EXACT [NCIT:C8408] +synonym: "malignant tumour of sternum" EXACT OMO:0003005 [] +synonym: "malignant tumour of the sternum" EXACT OMO:0003005 [] synonym: "neoplasm of sternum" BROAD [DOID:5090] synonym: "sternal tumor" BROAD EXCLUDE [DOID:5090] +synonym: "sternal tumour" BROAD OMO:0003005 [] synonym: "sternum cancer" EXACT [MONDO:patterns/location] xref: DOID:5090 {source="MONDO:equivalentTo"} xref: NCIT:C6730 {source="DOID:5090"} @@ -52357,13 +53788,18 @@ synonym: "malignant neoplasm of thorax" EXACT [NCIT:C3576] synonym: "malignant thoracic neoplasm" EXACT [NCIT:C3576] synonym: "malignant thoracic segment of trunk neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant thoracic tumor" EXACT [NCIT:C3576] +synonym: "malignant thoracic tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of the thorax" EXACT [NCIT:C3576] synonym: "malignant tumor of thorax" EXACT [NCIT:C3576] +synonym: "malignant tumour of the thorax" EXACT OMO:0003005 [] +synonym: "malignant tumour of thorax" EXACT OMO:0003005 [] synonym: "thoracic segment of trunk cancer" EXACT [MONDO:patterns/location] synonym: "thoracic tumor" BROAD [DOID:5093, NCIT:C3406] +synonym: "thoracic tumour" BROAD OMO:0003005 [] synonym: "thorax cancer" EXACT [DOID:5093] synonym: "thorax neoplasm" BROAD [DOID:5093] synonym: "tumor of thorax" BROAD [DOID:5093] +synonym: "tumour of thorax" BROAD OMO:0003005 [] xref: DOID:5093 {source="MONDO:equivalentTo"} xref: ICD10CM:C76.1 {source="DOID:5093"} xref: ICD9:195.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:5093"} @@ -52387,13 +53823,17 @@ def: "A malignant neoplasm involving the middle ear" [https://orcid.org/0000-000 synonym: "cancer of middle ear" EXACT [MONDO:patterns/cancer] synonym: "malignant middle ear neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant middle Ear tumor" EXACT [NCIT:C4765] +synonym: "malignant middle Ear tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of middle ear" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of the middle Ear" EXACT [NCIT:C4765] synonym: "malignant tumor of middle Ear" EXACT [NCIT:C4765] synonym: "malignant tumor of the middle Ear" EXACT [NCIT:C4765] +synonym: "malignant tumour of middle Ear" EXACT OMO:0003005 [] +synonym: "malignant tumour of the middle Ear" EXACT OMO:0003005 [] synonym: "middle ear cancer" EXACT [MONDO:patterns/location] synonym: "neoplasm of middle ear" RELATED EXCLUDE [DOID:5099] synonym: "tumor of the middle ear" BROAD [DOID:5099, NCIT:C4412] +synonym: "tumour of the middle ear" BROAD OMO:0003005 [] xref: DOID:5099 {source="MONDO:equivalentTo"} xref: NCIT:C4412 {source="DOID:5099"} xref: NCIT:C4765 {source="MONDO:equivalentTo"} @@ -52441,12 +53881,16 @@ synonym: "ear cancer" EXACT [MONDO:patterns/location] synonym: "malignant Ear neoplasm" EXACT [NCIT:C9337] synonym: "malignant ear neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant Ear tumor" EXACT [NCIT:C9337] +synonym: "malignant Ear tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of Ear" EXACT [NCIT:C9337] synonym: "malignant neoplasm of ear" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of the Ear" EXACT [NCIT:C9337] synonym: "malignant tumor of Ear" EXACT [NCIT:C9337] synonym: "malignant tumor of ear" EXACT [DOID:5101, NCIT:C9337] synonym: "malignant tumor of the Ear" EXACT [NCIT:C9337] +synonym: "malignant tumour of Ear" EXACT OMO:0003005 [] +synonym: "malignant tumour of ear" EXACT OMO:0003005 [] +synonym: "malignant tumour of the Ear" EXACT OMO:0003005 [] xref: DOID:5101 {source="MONDO:equivalentTo"} xref: MESH:D004428 {source="DOID:5101", source="MONDO:equivalentTo"} xref: NCIT:C9337 {source="MONDO:equivalentTo"} @@ -52542,9 +53986,11 @@ synonym: "epididymal neoplasm" EXACT [NCIT:C39958] synonym: "epididymis neoplasm" EXACT [] synonym: "epididymis neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "epididymis tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "epididymis tumour" EXACT OMO:0003005 [] synonym: "neoplasm of epididymis" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of epididymus" EXACT [] synonym: "tumor of epididymis" EXACT [MONDO:patterns/neoplasm] +synonym: "tumour of epididymis" EXACT OMO:0003005 [] xref: DOID:512 {source="MONDO:equivalentTo"} xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C39958 {source="DOID:512", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -52974,11 +54420,14 @@ name: endometrial stromal tumor def: "Neoplasms of the endometrial stroma that sometimes involve the myometrium. These tumors contain cells that may closely or remotely resemble the normal stromal cells. Endometrial stromal neoplasms are divided into three categories: (1) benign stromal nodules; (2) low-grade stromal sarcoma, or endolymphatic stromal myosis; and (3) malignant endometrial stromal sarcoma (sarcoma, endometrial stromal)." [MESH:D036821] synonym: "endometrial stroma neoplasm" EXACT [] synonym: "endometrial stroma tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "endometrial stroma tumour" EXACT OMO:0003005 [] synonym: "endometrial stromal neoplasm" EXACT [DOID:5166, NCIT:C8384] synonym: "endometrial stromal tumor" EXACT [] synonym: "endometrial stromal tumor (morphologic abnormality)" EXACT [DOID:5166] +synonym: "endometrial stromal tumour (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "neoplasm of endometrial stroma" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of endometrial stroma" EXACT [MONDO:patterns/neoplasm] +synonym: "tumour of endometrial stroma" EXACT OMO:0003005 [] xref: DOID:5166 {source="MONDO:equivalentTo"} xref: EFO:1000920 {source="MONDO:equivalentTo"} xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -53033,8 +54482,10 @@ def: "A category of rare neoplasms that arise from the vagina. It includes low g synonym: "endometrioid stromal and related neoplasms of the vagina" EXACT [NCIT:C40269] synonym: "endometrioid stromal and related neoplasms of vagina" EXACT [MONDO:design_pattern] synonym: "endometrioid stromal and related tumors of the vagina" EXACT [NCIT:C40269] +synonym: "endometrioid stromal and related tumours of the vagina" EXACT OMO:0003005 [] synonym: "vagina endometrioid stromal and related neoplasms" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "vaginal endometrial stromal tumor" RELATED [DOID:5171] +synonym: "vaginal endometrial stromal tumour" RELATED OMO:0003005 [] xref: DOID:5171 {source="MONDO:equivalentTo"} xref: NCIT:C40269 {source="MONDO:equivalentTo", source="DOID:5171"} xref: UMLS:C3642328 {source="MONDO:notFoundInDiseaseSubset", source="DOID:5171", source="NCIT:C40269"} @@ -53068,8 +54519,11 @@ name: nonanaplastic kidney Wilms tumor def: "Wilms tumor of the kidney characterized by the absence of nuclear anaplasia." [NCIT:C6951] synonym: "nonanaplastic kidney Wilms tumor" EXACT [NCIT:C6951] synonym: "nonanaplastic renal Wilm's tumor" EXACT [DOID:5176, NCIT:C6951] +synonym: "nonanaplastic renal Wilm's tumour" EXACT OMO:0003005 [] synonym: "nonanaplastic renal Wilms tumor" EXACT [DOID:5176, NCIT:C6951] +synonym: "nonanaplastic renal Wilms tumour" EXACT OMO:0003005 [] synonym: "nonanaplastic renal Wilms' tumor" EXACT [NCIT:C6951] +synonym: "nonanaplastic renal Wilms' tumour" EXACT OMO:0003005 [] xref: NCIT:C6951 {source="MONDO:equivalentTo"} xref: UMLS:C1335062 {source="MONDO:equivalentTo", source="NCIT:C6951"} is_a: MONDO:0019004 {source="NCIT:C6951"} ! kidney Wilms tumor @@ -53080,7 +54534,10 @@ name: metachronous kidney Wilms' tumor def: "Wilms tumor arising in the remaining kidney following treatment of the original Wilms tumor." [NCIT:P378] synonym: "metachronous Wilms tumor" EXACT [NCIT:C38158] synonym: "metachronous Wilms tumor of the kidney" EXACT [DOID:5178, NCIT:C38158] +synonym: "metachronous Wilms tumour" EXACT OMO:0003005 [] +synonym: "metachronous Wilms tumour of the kidney" EXACT OMO:0003005 [] synonym: "metachronous Wilms' tumor" EXACT [NCIT:C38158] +synonym: "metachronous Wilms' tumour" EXACT OMO:0003005 [] xref: DOID:5178 {source="MONDO:equivalentTo"} xref: NCIT:C38158 {source="DOID:5178", source="MONDO:equivalentTo"} xref: UMLS:C1334705 {source="DOID:5178", source="NCIT:C38158", source="MONDO:equivalentTo"} @@ -53093,12 +54550,17 @@ name: mixed cell type kidney Wilms' tumor def: "Wilms tumor of the kidney characterized by the presence of blastema, epithelial, and mesenchymal components (triphasic pattern) or a combination of two of them (biphasic pattern)." [NCIT:P378] synonym: "mixed cell type kidney adenosarcoma" EXACT [NCIT:C9149] synonym: "mixed cell type kidney Wilms tumor" EXACT [NCIT:C9149] +synonym: "mixed cell type kidney Wilms tumour" EXACT OMO:0003005 [] synonym: "mixed cell type nephroblastoma" EXACT [NCIT:C9149] synonym: "mixed cell type renal adenosarcoma" EXACT [NCIT:C9149] synonym: "mixed cell type renal Wilm's tumor" EXACT [NCIT:C9149] +synonym: "mixed cell type renal Wilm's tumour" EXACT OMO:0003005 [] synonym: "mixed cell type renal Wilms tumor" EXACT [DOID:5179, NCIT:C9149] +synonym: "mixed cell type renal Wilms tumour" EXACT OMO:0003005 [] synonym: "mixed cell type renal Wilms' tumor" EXACT [NCIT:C9149] +synonym: "mixed cell type renal Wilms' tumour" EXACT OMO:0003005 [] synonym: "Mixed cell type Wilms tumor" EXACT [NCIT:C9149] +synonym: "Mixed cell type Wilms tumour" EXACT OMO:0003005 [] xref: DOID:5179 {source="MONDO:equivalentTo"} xref: NCIT:C9149 {source="DOID:5179", source="MONDO:equivalentTo"} xref: UMLS:C0279611 {source="DOID:5179", source="NCIT:C9149", source="MONDO:equivalentTo"} @@ -53111,16 +54573,21 @@ name: scrotum neoplasm def: "A benign or malignant neoplasm that affects the scrotum." [NCIT:C4380] synonym: "malignant scrotal neoplasm" NARROW [DOID:518] synonym: "malignant tumor of scrotum" NARROW [DOID:518] +synonym: "malignant tumour of scrotum" NARROW OMO:0003005 [] synonym: "neoplasm of scrotum" EXACT [MONDO:patterns/neoplasm, NCIT:C4380] synonym: "neoplasm of the scrotum" EXACT [NCIT:C4380] synonym: "scrotal Ca" EXACT [DOID:518] synonym: "scrotal neoplasm" EXACT [NCIT:C4380] synonym: "scrotal tumor" EXACT [NCIT:C4380] +synonym: "scrotal tumour" EXACT OMO:0003005 [] synonym: "scrotum cancer" NARROW EXCLUDE [DOID:518] synonym: "scrotum neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "scrotum tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "scrotum tumour" EXACT OMO:0003005 [] synonym: "tumor of scrotum" EXACT [MONDO:patterns/neoplasm, NCIT:C4380] synonym: "tumor of the scrotum" EXACT [NCIT:C4380] +synonym: "tumour of scrotum" EXACT OMO:0003005 [] +synonym: "tumour of the scrotum" EXACT OMO:0003005 [] xref: DOID:518 {source="MONDO:equivalentTo"} xref: ICD10CM:C63.2 {source="DOID:518"} xref: ICD9:187.7 {source="DOID:518"} @@ -53144,12 +54611,17 @@ def: "Wilms tumor of the kidney characterized by the predominance of the blastem synonym: "blastema predominant kidney adenosarcoma" EXACT [DOID:5182, NCIT:C9147] synonym: "blastema predominant kidney Wilms tumor" EXACT [NCIT:C9147] synonym: "blastema predominant kidney Wilms' tumor" RELATED [DOID:5182] +synonym: "blastema predominant kidney Wilms' tumour" RELATED OMO:0003005 [] synonym: "blastema predominant nephroblastoma" EXACT [NCIT:C9147] synonym: "blastema predominant renal adenosarcoma" EXACT [NCIT:C9147] synonym: "blastema predominant renal Wilm's tumor" EXACT [NCIT:C9147] +synonym: "blastema predominant renal Wilm's tumour" EXACT OMO:0003005 [] synonym: "blastema predominant renal Wilms tumor" EXACT [DOID:5182, NCIT:C9147] +synonym: "blastema predominant renal Wilms tumour" EXACT OMO:0003005 [] synonym: "blastema predominant renal Wilms' tumor" EXACT [NCIT:C9147] +synonym: "blastema predominant renal Wilms' tumour" EXACT OMO:0003005 [] synonym: "blastema predominant Wilms tumor" EXACT [NCIT:C9147] +synonym: "blastema predominant Wilms tumour" EXACT OMO:0003005 [] xref: DOID:5182 {source="MONDO:equivalentTo"} xref: NCIT:C9147 {source="MONDO:equivalentTo", source="DOID:5182"} xref: UMLS:C0279609 {source="NCIT:C9147", source="MONDO:equivalentTo", source="DOID:5182"} @@ -53160,12 +54632,15 @@ id: MONDO:0003321 name: hereditary Wilms tumor def: "Familial embryonal neoplasm derived from nephrogenic blastemal cells. Several lines of differentiation, including blastemal, stromal and epithelial, are usually expressed. Comprises approximately 1% of Wilms tumors. (AFIP fascicle version 2.0)" [NCIT:P378] synonym: "familial Wilms tumor" EXACT [NCIT:C8496] +synonym: "familial Wilms tumour" EXACT OMO:0003005 [] synonym: "familial Wilms' tumor" EXACT [NCIT:C8496] +synonym: "familial Wilms' tumour" EXACT OMO:0003005 [] synonym: "hereditary kidney adenosarcoma" EXACT [NCIT:C8496] synonym: "hereditary nephroblastoma" EXACT [NCIT:C8496] synonym: "hereditary renal adenosarcoma" EXACT [NCIT:C8496] synonym: "hereditary Wilms tumor" EXACT [DOID:5183, MONDO:patterns/hereditary, NCIT:C8496] synonym: "hereditary Wilms' tumor" EXACT [DOID:5183, NCIT:C8496] +synonym: "hereditary Wilms' tumour" EXACT OMO:0003005 [] synonym: "WT1" NARROW ABBREVIATION [DOID:5183] xref: DOID:5183 {source="MONDO:equivalentTo"} xref: NCIT:C8496 {source="MONDO:equivalentTo", source="DOID:5183"} @@ -53182,12 +54657,17 @@ name: epithelial predominant Wilms' tumor def: "Wilms tumor of the kidney characterized by the predominance of the epithelial component. The epithelial cells may form papillary and tubular patterns and pseudorosettes." [NCIT:P378] synonym: "epithelial predominant kidney adenosarcoma" EXACT [DOID:5189, NCIT:C9146] synonym: "epithelial predominant kidney Wilms tumor" EXACT [NCIT:C9146] +synonym: "epithelial predominant kidney Wilms tumour" EXACT OMO:0003005 [] synonym: "epithelial predominant nephroblastoma" EXACT [NCIT:C9146] synonym: "epithelial predominant renal adenosarcoma" EXACT [NCIT:C9146] synonym: "epithelial predominant renal Wilm's tumor" EXACT [NCIT:C9146] +synonym: "epithelial predominant renal Wilm's tumour" EXACT OMO:0003005 [] synonym: "epithelial predominant renal Wilms tumor" EXACT [DOID:5189, NCIT:C9146] +synonym: "epithelial predominant renal Wilms tumour" EXACT OMO:0003005 [] synonym: "epithelial predominant renal Wilms' tumor" EXACT [NCIT:C9146] +synonym: "epithelial predominant renal Wilms' tumour" EXACT OMO:0003005 [] synonym: "epithelial predominant Wilms tumor" EXACT [NCIT:C9146] +synonym: "epithelial predominant Wilms tumour" EXACT OMO:0003005 [] xref: DOID:5189 {source="MONDO:equivalentTo"} xref: NCIT:C9146 {source="DOID:5189", source="MONDO:equivalentTo"} xref: UMLS:C0279608 {source="DOID:5189", source="NCIT:C9146", source="MONDO:equivalentTo"} @@ -53449,6 +54929,7 @@ def: "A benign mesenchymal neoplasm arising from the perivascular cells of the c synonym: "benign Pericytic neoplasm" EXACT [NCIT:C6529] synonym: "benign pericytic neoplasm" EXACT [] synonym: "benign Pericytic tumor" EXACT [NCIT:C6529] +synonym: "benign Pericytic tumour" EXACT OMO:0003005 [] synonym: "benign perivascular neoplasm" EXACT [NCIT:C6529] synonym: "benign perivascular tumor" EXACT [NCIT:C6529] synonym: "pericytic neoplasm, benign" EXACT [MONDO:patterns/benign] @@ -53495,7 +54976,9 @@ synonym: "hilar cholangiocarcinoma" EXACT [DOID:4927, NCIT:C36077, Orphanet:9997 synonym: "hilar cholangiocellular carcinoma" RELATED [DOID:5246] synonym: "hilar portion of hepatic duct cholangiocarcinoma" EXACT [MONDO:patterns/location] synonym: "Klatskin tumor" EXACT [DOID:4927, MONDO:0020566, NCIT:C36077] +synonym: "Klatskin tumour" EXACT OMO:0003005 [] synonym: "Klatskin's tumor" EXACT [GARD:0010175, MONDO:0006822] +synonym: "Klatskin's tumour" EXACT OMO:0003005 [] synonym: "perihilar cholangiocarcinoma" RELATED [GARD:0010175] synonym: "perihilar extrahepatic bile duct carcinoma" EXACT [DOID:4927, NCIT:C5859] xref: DOID:4927 {source="MONDO:equivalentTo", source="EFO:1001005"} @@ -53737,6 +55220,7 @@ synonym: "small bowel leiomyosarcoma" EXACT [NCIT:C7085] synonym: "small intestinal leiomyosarcoma" EXACT [NCIT:C7085] synonym: "small intestine leiomyosarcoma" EXACT [MONDO:patterns/location, NCIT:C7085] synonym: "smooth muscle connective tissue tumor" RELATED [DOID:5271] +synonym: "smooth muscle connective tissue tumour" RELATED OMO:0003005 [] xref: DOID:5271 {source="MONDO:equivalentTo"} xref: ICD10CM:C17.0 {source="Orphanet:104076/btnt", source="Orphanet:104076"} xref: ICD10CM:C17.1 {source="Orphanet:104076/btnt", source="Orphanet:104076"} @@ -53809,6 +55293,8 @@ synonym: "malignant neoplasm of dermis" EXACT [DOID:5274, MONDO:patterns/cancer, synonym: "malignant neoplasm of the dermis" EXACT [NCIT:C4574] synonym: "malignant tumor of dermis" EXACT [NCIT:C4574] synonym: "malignant tumor of the dermis" EXACT [NCIT:C4574] +synonym: "malignant tumour of dermis" EXACT OMO:0003005 [] +synonym: "malignant tumour of the dermis" EXACT OMO:0003005 [] xref: DOID:5274 {source="MONDO:equivalentTo"} xref: NCIT:C4574 {source="MONDO:equivalentTo", source="DOID:5274"} xref: SCTID:255096006 {source="MONDO:equivalentTo", source="DOID:5274"} @@ -53841,7 +55327,9 @@ def: "An aggressive malignant smooth muscle neoplasm, arising from the esophagus synonym: "esophageal leiomyosarcoma" EXACT [NCIT:C5334] synonym: "esophagus leiomyosarcoma" EXACT [MONDO:patterns/location, NCIT:C5334] synonym: "leiomyosarcoma of esophagus" EXACT [DOID:5276, NCIT:C5334] +synonym: "leiomyosarcoma of oesophagus" EXACT OMO:0003005 [] synonym: "leiomyosarcoma of the esophagus" EXACT [NCIT:C5334] +synonym: "leiomyosarcoma of the oesophagus" EXACT OMO:0003005 [] xref: DOID:5276 {source="MONDO:equivalentTo"} xref: NCIT:C5334 {source="MONDO:equivalentTo", source="DOID:5276"} xref: UMLS:C1333454 {source="MONDO:equivalentTo", source="NCIT:C5334", source="DOID:5276"} @@ -54338,9 +55826,12 @@ synonym: "granulosa cell neoplasm of testis" RELATED [NCIT:C6357] synonym: "granulosa cell neoplasm of the testis" RELATED [NCIT:C6357] synonym: "granulosa cell tumor of testis" EXACT [DOID:5331, NCIT:C6357] synonym: "granulosa cell tumor of the testis" RELATED [NCIT:C6357] +synonym: "granulosa cell tumour of testis" EXACT OMO:0003005 [] +synonym: "granulosa cell tumour of the testis" RELATED OMO:0003005 [] synonym: "testicular granulosa cell neoplasm" RELATED [NCIT:C6357] synonym: "testicular granulosa cell tumor" EXACT [NCIT:C6357] synonym: "testis granulosa cell tumor" EXACT [MONDO:patterns/location] +synonym: "testis granulosa cell tumour" EXACT OMO:0003005 [] xref: DOID:5331 {source="MONDO:equivalentTo"} xref: EFO:1000567 {source="MONDO:equivalentTo"} xref: NCIT:C6357 {source="MONDO:equivalentTo", source="NCIT:C6357", source="DOID:5331"} @@ -54405,15 +55896,22 @@ name: pineal region yolk sac tumor def: "A yolk sac tumor that involves the pineal body." [MONDO:patterns/location] synonym: "endodermal sinus tumor of pineal region" RELATED [NCIT:C6752] synonym: "endodermal sinus tumor of the pineal region" RELATED [NCIT:C6752] +synonym: "endodermal sinus tumour of pineal region" RELATED OMO:0003005 [] +synonym: "endodermal sinus tumour of the pineal region" RELATED OMO:0003005 [] synonym: "pineal body yolk sac tumor" EXACT [MONDO:patterns/location] +synonym: "pineal body yolk sac tumour" EXACT OMO:0003005 [] synonym: "pineal endodermal sinus neoplasm" RELATED [NCIT:C6752] synonym: "pineal endodermal sinus tumor" RELATED [NCIT:C6752] +synonym: "pineal endodermal sinus tumour" RELATED OMO:0003005 [] synonym: "pineal region endodermal sinus neoplasm" RELATED [NCIT:C6752] synonym: "pineal region endodermal sinus tumor" RELATED [NCIT:C6752] +synonym: "pineal region endodermal sinus tumour" RELATED OMO:0003005 [] synonym: "pineal region yolk Sac neoplasm" EXACT [DOID:5341, NCIT:C6752] synonym: "pineal region yolk sac tumor" EXACT [NCIT:C6752] synonym: "yolk Sac tumor of pineal region" RELATED [NCIT:C6752] synonym: "yolk Sac tumor of the pineal region" RELATED [NCIT:C6752] +synonym: "yolk Sac tumour of pineal region" RELATED OMO:0003005 [] +synonym: "yolk Sac tumour of the pineal region" RELATED OMO:0003005 [] xref: DOID:5341 {source="MONDO:equivalentTo"} xref: NCIT:C6752 {source="MONDO:equivalentTo", source="NCIT:C6752", source="DOID:5341"} xref: UMLS:C1335420 {source="MONDO:equivalentTo", source="NCIT:C6752", source="DOID:5341"} @@ -54432,6 +55930,10 @@ synonym: "childhood endodermal sinus neoplasm" EXACT [DOID:5342, NCIT:C27364] synonym: "childhood endodermal sinus tumor" EXACT [NCIT:C27364] synonym: "childhood yolk Sac neoplasm" RELATED [NCIT:C27364] synonym: "childhood yolk Sac tumor" RELATED [NCIT:C27364] +synonym: "childhood yolk Sac tumour" RELATED OMO:0003005 [] +synonym: "paediatric endodermal sinus neoplasm" RELATED OMO:0003005 [] +synonym: "paediatric yolk Sac neoplasm" RELATED OMO:0003005 [] +synonym: "paediatric yolk Sac tumour" EXACT OMO:0003005 [] synonym: "pediatric endodermal sinus neoplasm" RELATED [NCIT:C27364] synonym: "pediatric yolk Sac neoplasm" RELATED [NCIT:C27364] synonym: "pediatric yolk Sac tumor" EXACT [DOID:5342, NCIT:C27364] @@ -54448,14 +55950,22 @@ def: "A yolk sac tumor that arises from the central nervous system and occurs du synonym: "central nervous system endodermal sinus tumor" EXACT [MONDO:patterns/location] synonym: "central nervous system yolk Sac tumor" BROAD [NCIT:C6209] synonym: "central nervous system yolk sac tumor" BROAD [MONDO:patterns/location] +synonym: "central nervous system yolk Sac tumour" BROAD OMO:0003005 [] +synonym: "central nervous system yolk sac tumour" BROAD OMO:0003005 [] synonym: "childhood central nervous system endodermal sinus neoplasm" EXACT [DOID:5343, NCIT:C6209] synonym: "childhood central nervous system endodermal sinus tumor" EXACT [NCIT:C6209] +synonym: "childhood central nervous system endodermal sinus tumour" EXACT OMO:0003005 [] synonym: "childhood central nervous system yolk Sac neoplasm" BROAD [NCIT:C6209] synonym: "childhood central nervous system yolk Sac tumor" BROAD [NCIT:C6209] +synonym: "childhood central nervous system yolk Sac tumour" BROAD OMO:0003005 [] +synonym: "paediatric central nervous system endodermal sinus neoplasm" EXACT OMO:0003005 [] +synonym: "paediatric central nervous system yolk Sac neoplasm" BROAD OMO:0003005 [] +synonym: "paediatric central nervous system yolk Sac tumour" BROAD OMO:0003005 [] synonym: "pediatric central nervous system endodermal sinus neoplasm" EXACT [NCIT:C6209] synonym: "pediatric central nervous system yolk Sac neoplasm" BROAD [NCIT:C6209] synonym: "pediatric central nervous system yolk Sac tumor" BROAD [DOID:5343, NCIT:C6209] synonym: "yolk Sac tumor of the CNS" BROAD [DOID:5343, NCIT:C7011] +synonym: "yolk Sac tumour of the CNS" BROAD OMO:0003005 [] xref: DOID:5343 {source="MONDO:equivalentTo"} xref: NCIT:C6209 {source="DOID:5343", source="MONDO:equivalentTo"} xref: NCIT:C7011 {source="DOID:5343"} @@ -54477,18 +55987,26 @@ synonym: "endodermal sinus neoplasm of testis" RELATED [NCIT:C8000] synonym: "endodermal sinus neoplasm of the testis" RELATED [NCIT:C8000] synonym: "endodermal sinus tumor of testis" RELATED [NCIT:C8000] synonym: "endodermal sinus tumor of the testis" RELATED [NCIT:C8000] +synonym: "endodermal sinus tumour of testis" RELATED OMO:0003005 [] +synonym: "endodermal sinus tumour of the testis" RELATED OMO:0003005 [] synonym: "endodermal-sinus tumor" RELATED [GARD:0000348] +synonym: "endodermal-sinus tumour" RELATED OMO:0003005 [] synonym: "Orchidoblastoma" RELATED [GARD:0000348] synonym: "testicular endodermal sinus neoplasm" RELATED [NCIT:C8000] synonym: "testicular endodermal sinus tumor" RELATED [NCIT:C8000] +synonym: "testicular endodermal sinus tumour" RELATED OMO:0003005 [] synonym: "testicular yolk Sac neoplasm" EXACT [DOID:5344, NCIT:C8000] synonym: "testicular yolk sac tumor" EXACT [MONDO:0006449, NCIT:C8000] synonym: "testis yolk sac tumor" EXACT [MONDO:patterns/location] +synonym: "testis yolk sac tumour" EXACT OMO:0003005 [] synonym: "yolk Sac neoplasm of testis" RELATED [NCIT:C8000] synonym: "yolk Sac neoplasm of the testis" RELATED [NCIT:C8000] synonym: "yolk sac tumor" RELATED [ONCOTREE:TYST] synonym: "yolk Sac tumor of testis" RELATED [NCIT:C8000] synonym: "yolk Sac tumor of the testis" RELATED [NCIT:C8000] +synonym: "yolk sac tumour" RELATED OMO:0003005 [] +synonym: "yolk Sac tumour of testis" RELATED OMO:0003005 [] +synonym: "yolk Sac tumour of the testis" RELATED OMO:0003005 [] xref: DOID:5344 {source="MONDO:equivalentTo"} xref: EFO:1000574 {source="MONDO:equivalentTo"} xref: NCIT:C8000 {source="DOID:5344", source="NCIT:C8000", source="MONDO:equivalentTo", source="EFO:1000574"} @@ -54512,9 +56030,13 @@ synonym: "malignant non-seminomatous germ cell neoplasm of testis" EXACT [NCIT:C synonym: "malignant non-seminomatous germ cell neoplasm of the testis" EXACT [NCIT:C5027] synonym: "malignant non-seminomatous germ cell tumor of testis" EXACT [DOID:5345, NCIT:C5027] synonym: "malignant non-seminomatous germ cell tumor of the testis" EXACT [NCIT:C5027] +synonym: "malignant non-seminomatous germ cell tumour of testis" EXACT OMO:0003005 [] +synonym: "malignant non-seminomatous germ cell tumour of the testis" EXACT OMO:0003005 [] synonym: "malignant testicular non-seminomatous germ cell neoplasm" EXACT [NCIT:C5027] synonym: "malignant testicular non-seminomatous germ cell tumor" EXACT [NCIT:C5027] +synonym: "malignant testicular non-seminomatous germ cell tumour" EXACT OMO:0003005 [] synonym: "testicular germ cell tumor non-seminomatous, malignant" EXACT [MONDO:patterns/malignant] +synonym: "testicular germ cell tumour non-seminomatous, malignant" EXACT OMO:0003005 [] synonym: "testicular non-seminomatous germ cell cancer" EXACT [NCIT:C5027] synonym: "testicular non-seminomatous germ cell tumor, malignant" EXACT [MONDO:patterns/malignant] synonym: "testicular non-seminomatous malignant germ cell neoplasm" EXACT [NCIT:C5027] @@ -54534,10 +56056,14 @@ name: adult yolk sac tumor def: "A yolk sac tumor that occurs in an adult." [MONDO:design_pattern] synonym: "adult endodermal sinus neoplasm" EXACT [DOID:5348, NCIT:C27241] synonym: "adult endodermal sinus tumor" EXACT [NCIT:C27241] +synonym: "adult endodermal sinus tumour" EXACT OMO:0003005 [] synonym: "adult yolk Sac neoplasm" EXACT [DOID:5348, NCIT:C27241] synonym: "adult yolk Sac tumor" EXACT [NCIT:C27241] +synonym: "adult yolk Sac tumour" EXACT OMO:0003005 [] synonym: "yolk Sac tumor" BROAD [NCIT:C27241] synonym: "yolk sac tumor of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] +synonym: "yolk Sac tumour" BROAD OMO:0003005 [] +synonym: "yolk sac tumour of adults" EXACT OMO:0003005 [] xref: DOID:5348 {source="MONDO:equivalentTo"} xref: NCIT:C27241 {source="DOID:5348", source="MONDO:equivalentTo"} xref: UMLS:C1332221 {source="NCIT:C27241", source="DOID:5348", source="MONDO:equivalentTo"} @@ -54553,9 +56079,13 @@ synonym: "adult central nervous system germ cell neoplasm" EXACT [NCIT:C6285] synonym: "adult central nervous system germ cell tumor" EXACT [NCIT:C6285] synonym: "adult CNS germ cell neoplasm" EXACT [NCIT:C6285] synonym: "adult CNS germ cell tumor" EXACT [NCIT:C6285] +synonym: "adult CNS germ cell tumour" EXACT OMO:0003005 [] synonym: "central nervous system adult germ cell tumor" RELATED [DOID:5349] +synonym: "central nervous system adult germ cell tumour" RELATED OMO:0003005 [] synonym: "central nervous system germ cell tumor" BROAD [NCIT:C6285] synonym: "central nervous system germ cell tumor of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] +synonym: "central nervous system germ cell tumour" BROAD OMO:0003005 [] +synonym: "central nervous system germ cell tumour of adults" EXACT OMO:0003005 [] synonym: "germ cell neoplasm of adult central nervous system" EXACT [NCIT:C6285] synonym: "germ cell neoplasm of adult CNS" EXACT [NCIT:C6285] synonym: "germ cell neoplasm of the adult central nervous system" EXACT [NCIT:C6285] @@ -54564,6 +56094,10 @@ synonym: "germ cell tumor of adult central nervous system" EXACT [NCIT:C6285] synonym: "germ cell tumor of adult CNS" EXACT [NCIT:C6285] synonym: "germ cell tumor of the adult central nervous system" EXACT [NCIT:C6285] synonym: "germ cell tumor of the adult CNS" EXACT [DOID:5349, NCIT:C6285] +synonym: "germ cell tumour of adult central nervous system" EXACT OMO:0003005 [] +synonym: "germ cell tumour of adult CNS" EXACT OMO:0003005 [] +synonym: "germ cell tumour of the adult central nervous system" EXACT OMO:0003005 [] +synonym: "germ cell tumour of the adult CNS" EXACT OMO:0003005 [] xref: DOID:5349 {source="MONDO:equivalentTo"} xref: NCIT:C6285 {source="MONDO:equivalentTo", source="DOID:5349"} xref: UMLS:C0280796 {source="NCIT:C6285", source="MONDO:equivalentTo", source="DOID:5349"} @@ -54689,6 +56223,7 @@ def: "A hemangiopericytoma arising from the breast." [NCIT:P378] comment: Editor note: check SFT/hemangiopericytoma/spindle cell tumor synonym: "breast hemangiopericytoma" EXACT [MONDO:patterns/location] synonym: "breast spindle cell tumor" EXACT [MONDO:patterns/location] +synonym: "breast spindle cell tumour" EXACT OMO:0003005 [] xref: DOID:5370 {source="MONDO:equivalentTo"} xref: NCIT:C40396 {source="MONDO:equivalentTo", source="DOID:5370"} xref: UMLS:C1511313 {source="MONDO:equivalentTo", source="DOID:5370", source="NCIT:C40396"} @@ -54717,12 +56252,14 @@ def: "A benign or malignant neoplasm arising from the hair follicle." [NCIT:C736 synonym: "hair follicle neoplasm" EXACT [NCIT:C7367] synonym: "hair follicle neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "hair follicle tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C7367] +synonym: "hair follicle tumour" EXACT OMO:0003005 [] synonym: "hair matrix neoplasm" RELATED [DOID:5375, NCIT:C7367] -synonym: "hair matrix tumor" RELATED [NCIT:C7367] -synonym: "hair matrix tumor" RELATED [DOID:5375] +synonym: "hair matrix tumor" RELATED [DOID:5375, NCIT:C7367] +synonym: "hair matrix tumour" RELATED OMO:0003005 [] synonym: "neoplasm of hair follicle" EXACT [MONDO:patterns/neoplasm, NCIT:C7367] synonym: "neoplasm of the hair follicle" EXACT [NCIT:C7367] synonym: "tumor of hair follicle" EXACT [MONDO:patterns/neoplasm] +synonym: "tumour of hair follicle" EXACT OMO:0003005 [] xref: DOID:5375 {source="MONDO:equivalentTo"} xref: NCIT:C7367 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5375"} xref: SCTID:44155009 {source="DOID:5375"} @@ -54947,6 +56484,7 @@ synonym: "bronchus adenoma" EXACT [MONDO:patterns/location] synonym: "lung papillary adenoma" EXACT [NCIT:C3494] synonym: "papillary adenoma of type II pneumocytes" EXACT [NCIT:C3494] synonym: "peripheral papillary tumor of type II pneumocytes" EXACT [NCIT:C3494] +synonym: "peripheral papillary tumour of type II pneumocytes" EXACT OMO:0003005 [] synonym: "type II pneumocyte adenoma" EXACT [NCIT:C3494] xref: DOID:5391 {source="MONDO:equivalentTo"} xref: ICDO:8260/0 {source="NCIT:C3494"} @@ -55015,27 +56553,39 @@ synonym: "prolactin producing neoplasm of the pituitary" EXACT [NCIT:C7910] synonym: "prolactin producing neoplasm of the pituitary gland" EXACT [NCIT:C7910] synonym: "prolactin producing pituitary gland neoplasm" EXACT [NCIT:C7910] synonym: "prolactin producing pituitary gland tumor" EXACT [NCIT:C7910] +synonym: "prolactin producing pituitary gland tumour" EXACT OMO:0003005 [] synonym: "prolactin producing pituitary neoplasm" EXACT [NCIT:C7910] synonym: "prolactin producing pituitary tumor" EXACT [NCIT:C7910] synonym: "prolactin producing tumor of pituitary" EXACT [NCIT:C7910] synonym: "prolactin producing tumor of pituitary gland" EXACT [NCIT:C7910] synonym: "prolactin producing tumor of the pituitary" EXACT [NCIT:C7910] synonym: "prolactin producing tumor of the pituitary gland" EXACT [NCIT:C7910] +synonym: "prolactin producing tumour of pituitary" EXACT OMO:0003005 [] +synonym: "prolactin producing tumour of pituitary gland" EXACT OMO:0003005 [] +synonym: "prolactin producing tumour of the pituitary" EXACT OMO:0003005 [] +synonym: "prolactin producing tumour of the pituitary gland" EXACT OMO:0003005 [] synonym: "prolactin secreting neoplasm of pituitary" EXACT [NCIT:C7910] synonym: "prolactin secreting neoplasm of pituitary gland" EXACT [NCIT:C7910] synonym: "prolactin secreting neoplasm of the pituitary" EXACT [NCIT:C7910] synonym: "prolactin secreting neoplasm of the pituitary gland" EXACT [NCIT:C7910] synonym: "prolactin secreting pituitary gland neoplasm" EXACT [NCIT:C7910] synonym: "prolactin secreting pituitary gland tumor" EXACT [NCIT:C7910] +synonym: "prolactin secreting pituitary gland tumour" EXACT OMO:0003005 [] synonym: "prolactin secreting pituitary neoplasm" EXACT [NCIT:C7910] synonym: "prolactin secreting pituitary tumor" EXACT [NCIT:C7910] +synonym: "prolactin secreting pituitary tumour" EXACT OMO:0003005 [] synonym: "prolactin secreting tumor of pituitary" EXACT [DOID:5396, NCIT:C7910] synonym: "prolactin secreting tumor of pituitary gland" EXACT [NCIT:C7910] synonym: "prolactin secreting tumor of the pituitary" EXACT [NCIT:C7910] synonym: "prolactin secreting tumor of the pituitary gland" EXACT [NCIT:C7910] +synonym: "prolactin secreting tumour of pituitary" EXACT OMO:0003005 [] +synonym: "prolactin secreting tumour of pituitary gland" EXACT OMO:0003005 [] +synonym: "prolactin secreting tumour of the pituitary" EXACT OMO:0003005 [] +synonym: "prolactin secreting tumour of the pituitary gland" EXACT OMO:0003005 [] synonym: "prolactin-producing pituitary gland carcinoma" RELATED EXCLUDE [DOID:5396] synonym: "prolactin-producing pituitary gland neoplasm" EXACT [NCIT:C7910] synonym: "prolactin-producing pituitary gland tumor" EXACT [NCIT:C7910] +synonym: "prolactin-producing pituitary gland tumour" EXACT OMO:0003005 [] xref: DOID:5396 {source="MONDO:equivalentTo"} xref: NCIT:C5962 {source="DOID:5396"} xref: NCIT:C7910 {source="MONDO:equivalentObsolete", source="DOID:5396"} @@ -55425,15 +56975,20 @@ def: "A malignant neoplasm involving the conjunctiva." [https://orcid.org/0000-0 synonym: "cancer of conjunctiva" BROAD [MONDO:patterns/cancer] synonym: "conjunctiva cancer" EXACT [MONDO:patterns/location] synonym: "conjunctival tumor" BROAD [DOID:5467, NCIT:C2961] +synonym: "conjunctival tumour" BROAD OMO:0003005 [] synonym: "malignant conjunctiva neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3564] synonym: "malignant conjunctiva tumor" EXACT [NCIT:C3564] +synonym: "malignant conjunctiva tumour" EXACT OMO:0003005 [] synonym: "malignant conjunctival neoplasm" EXACT [NCIT:C3564] synonym: "malignant conjunctival tumor" EXACT [DOID:5467, NCIT:C3564] +synonym: "malignant conjunctival tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of conjunctiva" EXACT [DOID:5467, MONDO:patterns/cancer, NCIT:C3564] synonym: "malignant neoplasm of conjunctiva (primary)" EXACT [DOID:5467] synonym: "malignant neoplasm of the conjunctiva" EXACT [NCIT:C3564] synonym: "malignant tumor of conjunctiva" EXACT [NCIT:C3564] synonym: "malignant tumor of the conjunctiva" EXACT [NCIT:C3564] +synonym: "malignant tumour of conjunctiva" EXACT OMO:0003005 [] +synonym: "malignant tumour of the conjunctiva" EXACT OMO:0003005 [] synonym: "neoplasm of conjunctiva" BROAD EXCLUDE [DOID:5467] xref: DOID:5467 {source="MONDO:equivalentTo"} xref: ICD10CM:C69.0 {source="DOID:5467"} @@ -55830,6 +57385,7 @@ def: "An ependymoma that arises from the central nervous system and occurs durin synonym: "childhood ependymoma" EXACT [DOID:5509, NCIT:C8578] synonym: "ependymoma" BROAD [NCIT:C8578] synonym: "ependymoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] +synonym: "paediatric ependymoma" EXACT OMO:0003005 [] synonym: "pediatric ependymoma" EXACT [MONDO:patterns/childhood, NCIT:C8578] xref: DOID:5509 {source="MONDO:equivalentTo"} xref: MESH:C531673 {source="MONDO:equivalentTo"} @@ -55843,7 +57399,9 @@ id: MONDO:0003479 name: toxic pneumonitis def: "A pneumonia that is an acute inflammation of the lungs induced by inhalation of metal fumes or toxic gasses and vapors. It is a sentinel health event (occupational) associated with exposure to ammonia (refrigeration, fertilizer, and oil refining industries), chlorine (alkali and bleach industries), nitrogen oxides (silo fillers, arc welders, and nitric acid industry), sulfur dioxide (paper, refrigeration, and oil refining industries), cadmium (processors and cadmium smelters), trimellitic anhydride (plastics and organic chemical synthesis), and vanadium pentoxide (boilermakers). The two types of pulmonary agents are central and peripheral. Central pulmonary agents, for example, ammonia, are water soluble irritants that injure the upper airways. Peripheral pulmonary agents, for example, phosgene, NOx, and PFIB, are slightly water soluble irritants that injure the alveolar-capillary membranes. Chlorine has both central and peripheral effects." [DOID:551, http://hazmap.nlm.nih.gov/cgi-bin/hazmap_generic?tbl=TblDiseases&id=306] synonym: "acute chemical fume pulmonary edema" EXACT [DOID:551] +synonym: "acute chemical fume pulmonary oedema" EXACT OMO:0003005 [] synonym: "acute chemical pulmonary edema" EXACT [DOID:551] +synonym: "acute chemical pulmonary oedema" EXACT OMO:0003005 [] xref: DOID:551 {source="MONDO:equivalentTo"} xref: ICD9:506.9 {source="DOID:551"} xref: SCTID:233733000 {source="MONDO:equivalentTo"} @@ -56061,6 +57619,7 @@ name: ovarian squamous cell neoplasm def: "A squamous cell tumor that arises from the ovary and is not associated with a germ cell tumor." [NCIT:C40092] synonym: "ovarian squamous cell neoplasm" EXACT [NCIT:C40092] synonym: "ovarian squamous cell tumor" EXACT [NCIT:C40092] +synonym: "ovarian squamous cell tumour" EXACT OMO:0003005 [] synonym: "ovary squamous cell neoplasm" EXACT [MONDO:patterns/location] xref: DOID:5532 {source="MONDO:equivalentObsolete"} xref: NCIT:C40092 {source="DOID:5532", source="MONDO:equivalentObsolete"} @@ -56206,14 +57765,18 @@ synonym: "anal canal NET" RELATED [MONDO:patterns/neuroendocrine_neoplasm] synonym: "anal canal neuroendocrine neoplasm" EXACT [MONDO:patterns/location, NCIT:C5603] synonym: "anal canal neuroendocrine tumor" RELATED [MONDO:patterns/neuroendocrine_neoplasm] synonym: "anal canal neuroendocrine tumor, well differentiated, low or intermediate grade" RELATED [MONDO:patterns/neuroendocrine_neoplasm] +synonym: "anal canal neuroendocrine tumour" RELATED OMO:0003005 [] synonym: "anal neuroendocrine neoplasm" EXACT [NCIT:C5603] synonym: "anal neuroendocrine tumor" RELATED [DOID:5545] +synonym: "anal neuroendocrine tumour" RELATED OMO:0003005 [] synonym: "anus neuroendocrine neoplasm" EXACT [MONDO:patterns/location] synonym: "anus neuroendocrine tumor" RELATED [MONDO:patterns/location] +synonym: "anus neuroendocrine tumour" RELATED OMO:0003005 [] synonym: "neuroendocrine neoplasm of anal canal" EXACT [MONDO:design_pattern, MONDO:patterns/neuroendocrine_neoplasm] synonym: "neuroendocrine neoplasm of anus" EXACT [NCIT:C5603] synonym: "neuroendocrine neoplasm of the anus" EXACT [NCIT:C5603] synonym: "neuroendocrine tumor of anus" RELATED [DOID:5545, NCIT:C5603] +synonym: "neuroendocrine tumour of anus" RELATED OMO:0003005 [] xref: DOID:5545 {source="MONDO:equivalentTo"} xref: NCIT:C5603 {source="DOID:5545", source="MONDO:equivalentTo"} xref: SCTID:717917007 {source="MONDO:equivalentTo"} @@ -56336,6 +57899,8 @@ synonym: "malignant germ cell neoplasm of testis" EXACT [NCIT:C9063] synonym: "malignant germ cell neoplasm of the testis" EXACT [NCIT:C9063] synonym: "malignant germ cell tumor of testis" EXACT [DOID:5556, NCIT:C9063] synonym: "malignant germ cell tumor of the testis" EXACT [NCIT:C9063] +synonym: "malignant germ cell tumour of testis" EXACT OMO:0003005 [] +synonym: "malignant germ cell tumour of the testis" EXACT OMO:0003005 [] synonym: "malignant testicular germ cell neoplasm" EXACT [NCIT:C9063] synonym: "malignant testicular germ cell tumor" EXACT [NCIT:C9063] synonym: "testicular ca. (no germ/tropho.)" EXACT [NCIT:C9063] @@ -56367,10 +57932,13 @@ name: mediastinal mesenchymal tumor def: "A benign or malignant soft tissue neoplasm of the mediastinum. Representative examples of benign mediastinal soft tissue neoplasms include chondroma, leiomyoma, lipoma, and rhabdomyoma. Representative examples of malignant mediastinal soft tissue neoplasms include angiosarcoma, leiomyosarcoma, liposarcoma, osteosarcoma, rhabdomyosarcoma, and synovial sarcoma." [NCIT:P378] synonym: "mediastinal soft tissue neoplasm" EXACT [NCIT:C6637] synonym: "mediastinal soft tissue tumor" EXACT [NCIT:C6637] +synonym: "mediastinal soft tissue tumour" EXACT OMO:0003005 [] synonym: "soft tissue neoplasm of mediastinum" EXACT [NCIT:C6637] synonym: "soft tissue neoplasm of the mediastinum" EXACT [NCIT:C6637] synonym: "soft tissue tumor of mediastinum" EXACT [DOID:5560, NCIT:C6637] synonym: "soft tissue tumor of the mediastinum" EXACT [NCIT:C6637] +synonym: "soft tissue tumour of mediastinum" EXACT OMO:0003005 [] +synonym: "soft tissue tumour of the mediastinum" EXACT OMO:0003005 [] xref: DOID:5560 {source="MONDO:equivalentTo"} xref: NCIT:C6637 {source="MONDO:equivalentTo", source="DOID:5560"} xref: UMLS:C1334669 {source="MONDO:equivalentTo", source="DOID:5560", source="NCIT:C6637"} @@ -56529,10 +58097,15 @@ id: MONDO:0003523 name: gastrin-producing neuroendocrine tumor def: "A gastrin-producing neuroendocrine tumor. It is usually located in the pancreas but it is also found at other anatomic sites, including the stomach and small intestine." [NCIT:C3050] synonym: "G cell tumor" EXACT [NCIT:C3050] +synonym: "G cell tumour" EXACT OMO:0003005 [] synonym: "G-cell gastrin producing tumor" EXACT [NCIT:C3050] +synonym: "G-cell gastrin producing tumour" EXACT OMO:0003005 [] synonym: "G-cell tumor" EXACT [NCIT:C3050] +synonym: "G-cell tumour" EXACT OMO:0003005 [] synonym: "gastrin cell tumor" EXACT [DOID:5577] +synonym: "gastrin cell tumour" EXACT OMO:0003005 [] synonym: "gastrin secreting tumor" EXACT [DOID:5577, NCIT:C3050] +synonym: "gastrin secreting tumour" EXACT OMO:0003005 [] synonym: "gastrin-producing NET" EXACT [NCIT:C3050] synonym: "gastrin-producing neuroendocrine tumor" EXACT [NCIT:C3050] synonym: "gastrinoma" EXACT [NCIT:C3050] @@ -56553,15 +58126,22 @@ id: MONDO:0003524 name: gastric gastrin-producing neuroendocrine tumor def: "A well differentiated neuroendocrine tumor that arises from the stomach. It produces gastrin and it may be associated with Zollinger-Ellison syndrome." [NCIT:C27444] synonym: "gastric G-cell gastrin producing tumor" EXACT [DOID:5579] +synonym: "gastric G-cell gastrin producing tumour" EXACT OMO:0003005 [] synonym: "gastric gastrin producing tumor" EXACT [NCIT:C27444] +synonym: "gastric gastrin producing tumour" EXACT OMO:0003005 [] synonym: "gastric gastrin-producing NET" EXACT [NCIT:C27444] synonym: "gastric gastrin-producing neuroendocrine tumor" EXACT [NCIT:C27444] synonym: "gastric gastrinoma" RELATED [DOID:5579] synonym: "gastrin producing neuroendocrine tumor of the stomach" EXACT [NCIT:C27444] +synonym: "gastrin producing neuroendocrine tumour of the stomach" EXACT OMO:0003005 [] synonym: "gastrin producing tumor of the stomach" EXACT [NCIT:C27444] +synonym: "gastrin producing tumour of the stomach" EXACT OMO:0003005 [] synonym: "gastrin-producing neuroendocrine tumor of stomach" EXACT [MONDO:design_pattern] synonym: "gastrin-producing neuroendocrine tumor of the stomach" EXACT [NCIT:C27444] +synonym: "gastrin-producing neuroendocrine tumour of stomach" EXACT OMO:0003005 [] +synonym: "gastrin-producing neuroendocrine tumour of the stomach" EXACT OMO:0003005 [] synonym: "stomach gastrin-producing neuroendocrine tumor" EXACT [MONDO:design_pattern, MONDO:patterns/location] +synonym: "stomach gastrin-producing neuroendocrine tumour" EXACT OMO:0003005 [] xref: DOID:5579 {source="MONDO:equivalentTo"} xref: NCIT:C27444 {source="DOID:5579", source="MONDO:equivalentTo"} xref: UMLS:C1333767 {source="DOID:5579", source="NCIT:C27444", source="MONDO:equivalentTo"} @@ -56577,11 +58157,15 @@ name: pancreatic gastrin-producing neuroendocrine tumor def: "A usually malignant gastrin-producing neuroendocrine tumor arising from the pancreas. It may or may not be associated with inappropriate secretion of gastrin and an associated clinical syndrome." [NCIT:C9069] comment: Editor note: determine difference between NCIT:C95596 and NCIT:C9069 synonym: "gastrin-producing neuroendocrine tumor of pancreas" EXACT [MONDO:design_pattern] +synonym: "gastrin-producing neuroendocrine tumour of pancreas" EXACT OMO:0003005 [] synonym: "islet cell tumor, ulcerogenic" RELATED [MESH:D015408] synonym: "pancreas gastrin-producing neuroendocrine tumor" EXACT [MONDO:design_pattern, MONDO:patterns/location] +synonym: "pancreas gastrin-producing neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "pancreatic G-cell tumor" EXACT [DOID:5580, NCIT:C9069] +synonym: "pancreatic G-cell tumour" EXACT OMO:0003005 [] synonym: "pancreatic gastrin producing NET" EXACT [NCIT:C9069] synonym: "pancreatic gastrin producing tumor" EXACT [NCIT:C9069] +synonym: "pancreatic gastrin producing tumour" EXACT OMO:0003005 [] synonym: "pancreatic gastrin-producing neuroendocrine tumor" EXACT [NCIT:C9069] synonym: "pancreatic gastrinoma" RELATED EXCLUDE [DOID:5580] xref: DOID:5580 {source="MONDO:equivalentTo"} @@ -56611,6 +58195,7 @@ replaced_by: MONDO:0007566 id: MONDO:0003528 name: Volkmann contracture def: "An ischemic contracture of the forearm that most often occurs secondary to trauma." [NCIT:P378] +synonym: "Volkmann's ischaemic contracture" EXACT OMO:0003005 [] synonym: "Volkmann's ischemic contracture" EXACT [DOID:5587, ICD9CM:958.6, NCIT:C35130] xref: DOID:5587 {source="MONDO:equivalentTo"} xref: ICD10CM:T79.6 {source="DOID:5587"} @@ -56779,13 +58364,21 @@ id: MONDO:0003539 name: T-cell adult acute lymphocytic leukemia def: "An acute T-lymphoblastic leukemia occurring in adults." [NCIT:P378] synonym: "acute Adult T-cell Leukemia-lymphoma" EXACT [DOID:5602] +synonym: "adult acute lymphoblastic leukaemia of T cell" EXACT OMO:0003005 [] synonym: "adult acute lymphoblastic leukemia of T cell" EXACT [MONDO:design_pattern] +synonym: "adult precursor T lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "adult precursor T lymphoblastic leukemia" EXACT [DOID:5602, NCIT:C9142] +synonym: "adult precursor T-lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "adult precursor T-lymphoblastic leukemia" EXACT [NCIT:C9142] +synonym: "adult T acute lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "adult T acute lymphoblastic leukemia" EXACT [NCIT:C9142] +synonym: "adult T-cell acute lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "adult T-cell acute lymphoblastic leukemia" EXACT [NCIT:C9142] +synonym: "T Acute Lymphoblastic Leukaemia" EXACT OMO:0003005 [] synonym: "T Acute Lymphoblastic Leukemia" EXACT [NCIT:C9142] +synonym: "T cell adult acute lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "T cell adult acute lymphoblastic leukemia" EXACT [MONDO:design_pattern, MONDO:patterns/location] +synonym: "T cell adult acute lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "T cell adult acute lymphocytic leukemia" EXACT [MONDO:patterns/location] synonym: "T cell adult ALL" EXACT [NCIT:C9142] synonym: "T-cell adult ALL" EXACT [NCIT:C9142] @@ -56802,7 +58395,9 @@ relationship: has_characteristic PATO:0000389 ! acute [Term] id: MONDO:0003540 name: acute T cell leukemia +synonym: "precursor T lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "precursor T lymphoblastic leukemia" EXACT [DOID:5603, NCIT:C3183] +synonym: "T-cell acute lymphoblastic leukaemia" RELATED OMO:0003005 [] synonym: "T-cell acute lymphoblastic leukemia" RELATED EXCLUDE [DOID:5603] xref: CSP:2004-1600 {source="DOID:5603"} xref: CSP:2004-1803 {source="DOID:5603"} @@ -56826,12 +58421,17 @@ property_value: confidence "0.33333333333333326" xsd:double id: MONDO:0003541 name: adult acute lymphoblastic leukemia def: "An acute lymphoblastic leukemia occurring during adulthood." [NCIT:C4967] +synonym: "acute lymphoblastic leukaemia (ALL)" BROAD OMO:0003005 [] synonym: "acute lymphoblastic leukemia (ALL)" BROAD [NCIT:C4967] synonym: "adult acute lymphoblastic leukemia" EXACT [NCIT:C4967] +synonym: "adult acute lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "adult acute lymphocytic leukemia" EXACT [NCIT:C4967] +synonym: "adult acute lymphogenous leukaemia" EXACT OMO:0003005 [] synonym: "adult acute lymphogenous leukemia" EXACT [NCIT:C4967] +synonym: "adult acute lymphoid leukaemia" EXACT OMO:0003005 [] synonym: "adult acute lymphoid leukemia" EXACT [DOID:5604, NCIT:C4967] synonym: "adult ALL" EXACT [NCIT:C4967] +synonym: "adult precursor lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "adult precursor lymphoblastic leukemia" EXACT [NCIT:C4967] xref: DOID:5604 {source="MONDO:equivalentTo"} xref: NCIT:C4967 {source="MONDO:equivalentTo", source="DOID:5604"} @@ -56882,18 +58482,23 @@ name: spinal cord cancer def: "A primary or metastatic malignant neoplasm affecting the spinal cord. Representative examples include lymphoma, melanoma, and sarcoma." [NCIT:C3572] synonym: "cancer of spinal cord" EXACT [MONDO:patterns/cancer] synonym: "intraspinal tumor" BROAD [DOID:5612, NCIT:C3382] +synonym: "intraspinal tumour" BROAD OMO:0003005 [] synonym: "malignant neoplasm of spinal cord" EXACT [MONDO:patterns/cancer, NCIT:C3572] synonym: "malignant neoplasm of the spinal cord" EXACT [NCIT:C3572] synonym: "malignant spinal cord neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3572] synonym: "malignant spinal cord tumor" EXACT [NCIT:C3572] +synonym: "malignant spinal cord tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of spinal cord" EXACT [NCIT:C3572] synonym: "malignant tumor of the spinal cord" EXACT [DOID:5612, NCIT:C3572] +synonym: "malignant tumour of spinal cord" EXACT OMO:0003005 [] +synonym: "malignant tumour of the spinal cord" EXACT OMO:0003005 [] synonym: "spinal cancer" EXACT [DOID:5612] synonym: "spinal cord cancer" EXACT [MONDO:patterns/location] synonym: "spinal cord neoplasm" BROAD [DOID:5612] synonym: "spinal neoplasm" RELATED [DOID:5612] synonym: "spine cancer" EXACT [NCIT:C3572] synonym: "tumor of the spinal cord" BROAD [DOID:5612, NCIT:C3381] +synonym: "tumour of the spinal cord" BROAD OMO:0003005 [] xref: DOID:5612 {source="MONDO:equivalentTo"} xref: ICD10CM:C72.0 {source="DOID:5612", source="MONDO:equivalentTo"} xref: ICD9:192.2 {source="DOID:5612", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -56923,10 +58528,15 @@ synonym: "intradural extramedullary neoplasm of the spinal canal" EXACT [NCIT:C5 synonym: "intradural extramedullary spinal canal neoplasm" EXACT [NCIT:C5135] synonym: "intradural extramedullary spinal canal tumor" EXACT [NCIT:C5135] synonym: "intradural extramedullary spinal canal tumors" EXACT [NCIT:C5135] +synonym: "intradural extramedullary spinal canal tumour" EXACT OMO:0003005 [] +synonym: "intradural extramedullary spinal canal tumours" EXACT OMO:0003005 [] synonym: "intradural extramedullary spinal neoplasms" EXACT [NCIT:C5135] synonym: "intradural extramedullary spinal tumors" EXACT [DOID:5615, NCIT:C5135] +synonym: "intradural extramedullary spinal tumours" EXACT OMO:0003005 [] synonym: "intradural extramedullary tumor of spinal canal" EXACT [NCIT:C5135] synonym: "intradural extramedullary tumor of the spinal canal" EXACT [NCIT:C5135] +synonym: "intradural extramedullary tumour of spinal canal" EXACT OMO:0003005 [] +synonym: "intradural extramedullary tumour of the spinal canal" EXACT OMO:0003005 [] synonym: "spinal canal intradural extramedullary neoplasm" RELATED [DOID:5615] xref: DOID:5615 {source="MONDO:equivalentTo"} xref: NCIT:C5135 {source="MONDO:equivalentTo", source="DOID:5615"} @@ -57004,6 +58614,7 @@ def: "An esophageal carcinoma characterized by the presence of distinguishable s synonym: "esophageal adenosquamous cancer" EXACT [NCIT:C27421] synonym: "esophageal adenosquamous carcinoma" EXACT [NCIT:C27421] synonym: "esophagus adenosquamous carcinoma" EXACT [MONDO:patterns/location] +synonym: "oesophagus adenosquamous carcinoma" EXACT OMO:0003005 [] xref: DOID:5625 {source="MONDO:equivalentTo"} xref: NCIT:C27421 {source="DOID:5625", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C2063886 {source="NCIT:C27421", source="MONDO:equivalentTo"} @@ -57158,6 +58769,7 @@ synonym: "giant cell malignant fibrous histiocytoma" EXACT [NCIT:C8380] synonym: "malignant giant cell neoplasm of soft parts" EXACT [DOID:5638, NCIT:C8380] synonym: "malignant giant cell tumor of soft parts" EXACT [NCIT:C8380] synonym: "malignant giant cell tumor of soft parts (morphologic abnormality)" EXACT [DOID:5638] +synonym: "malignant giant cell tumour of soft parts (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "malignant Osteoclastoma" EXACT [NCIT:C8380] synonym: "undifferentiated pleomorphic sarcoma with osteoclast-like giant cells" EXACT [NCIT:C8380] xref: DOID:5638 {source="MONDO:equivalentTo"} @@ -57176,7 +58788,9 @@ synonym: "neoplasm of rete testis" EXACT [MONDO:patterns/neoplasm] synonym: "rete testis neoplasm" EXACT [NCIT:C39955] synonym: "rete testis neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "rete testis tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "rete testis tumour" EXACT OMO:0003005 [] synonym: "tumor of rete testis" EXACT [MONDO:patterns/neoplasm] +synonym: "tumour of rete testis" EXACT OMO:0003005 [] xref: DOID:5639 {source="MONDO:equivalentTo"} xref: NCIT:C39955 {source="MONDO:equivalentTo", source="DOID:5639", source="MONDO:exact-label-match"} xref: UMLS:C1514912 {source="MONDO:equivalentTo", source="NCIT:C39955", source="DOID:5639"} @@ -57329,7 +58943,9 @@ synonym: "lymphoepithelioma" EXACT [NCIT:C4107] synonym: "lymphoepithelioma-like carcinoma" EXACT [DOID:5660, NCIT:C27387, NCIT:C4107] synonym: "nasopharyngeal type undifferentiated carcinoma" EXACT [DOID:5660, NCIT:C4107] synonym: "Schmincke tumor" EXACT [NCIT:C4107] +synonym: "Schmincke tumour" EXACT OMO:0003005 [] synonym: "Schminke tumor" EXACT [NCIT:C4107] +synonym: "Schminke tumour" EXACT OMO:0003005 [] xref: DOID:5660 {source="MONDO:equivalentTo"} xref: ICDO:8082/3 {source="NCIT:C4107"} xref: NCIT:C4107 {source="MONDO:equivalentTo", source="DOID:5660"} @@ -57361,12 +58977,15 @@ synonym: "external ear cancer" EXACT [MONDO:patterns/location] synonym: "malignant external Ear neoplasm" EXACT [NCIT:C4653] synonym: "malignant external ear neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant external Ear tumor" EXACT [NCIT:C4653] +synonym: "malignant external Ear tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of external Ear" EXACT [NCIT:C4653] synonym: "malignant neoplasm of external ear" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of the external Ear" EXACT [NCIT:C4653] synonym: "malignant neoplasm of the external ear" EXACT [DOID:5665, NCIT:C4653] synonym: "malignant tumor of external Ear" EXACT [NCIT:C4653] synonym: "malignant tumor of the external Ear" EXACT [NCIT:C4653] +synonym: "malignant tumour of external Ear" EXACT OMO:0003005 [] +synonym: "malignant tumour of the external Ear" EXACT OMO:0003005 [] xref: DOID:5665 {source="MONDO:equivalentTo"} xref: NCIT:C4653 {source="DOID:5665", source="MONDO:equivalentTo"} xref: SCTID:277156006 {source="DOID:5665", source="MONDO:equivalentTo"} @@ -57414,11 +59033,14 @@ synonym: "extragonadal non-seminomatous germ cell cancer" EXACT [NCIT:C8885] synonym: "extragonadal primary Nonseminoma" EXACT [NCIT:C8885] synonym: "malignant extragonadal non-seminomatous germ cell neoplasm" EXACT [NCIT:C8885] synonym: "malignant extragonadal non-seminomatous germ cell tumor" EXACT [NCIT:C8885] +synonym: "malignant extragonadal non-seminomatous germ cell tumour" EXACT OMO:0003005 [] synonym: "malignant extragonadal Nonseminoma" EXACT [NCIT:C8885] synonym: "malignant neoplasm of extragonadal non-seminomatous germ cell" EXACT [NCIT:C8885] synonym: "malignant neoplasm of the extragonadal non-seminomatous germ cell" EXACT [NCIT:C8885] synonym: "malignant tumor of extragonadal non-seminomatous germ cell" EXACT [NCIT:C8885] synonym: "malignant tumor of the extragonadal non-seminomatous germ cell" EXACT [NCIT:C8885] +synonym: "malignant tumour of extragonadal non-seminomatous germ cell" EXACT OMO:0003005 [] +synonym: "malignant tumour of the extragonadal non-seminomatous germ cell" EXACT OMO:0003005 [] synonym: "primary malignant extragonadal Nonseminoma" EXACT [DOID:5677, NCIT:C8885] xref: DOID:5677 {source="MONDO:equivalentTo"} xref: NCIT:C8885 {source="DOID:5677", source="MONDO:equivalentTo"} @@ -57434,13 +59056,21 @@ id: MONDO:0003579 name: retinal nerve fiber layer disorder def: "A disease that involves the nerve fiber layer of retina." [MONDO:patterns/location] synonym: "disease of nerve fiber layer of retina" EXACT [MONDO:design_pattern, MONDO:patterns/location_top] +synonym: "disease of nerve fibre layer of retina" EXACT OMO:0003005 [] synonym: "disease or disorder of nerve fiber layer of retina" EXACT [] +synonym: "disease or disorder of nerve fibre layer of retina" EXACT OMO:0003005 [] synonym: "disorder of nerve fiber layer of retina" EXACT [MONDO:design_pattern, MONDO:patterns/location_top] +synonym: "disorder of nerve fibre layer of retina" EXACT OMO:0003005 [] synonym: "nerve fiber bundle defect" RELATED [DOID:5678] synonym: "nerve fiber layer of retina disease" EXACT [MONDO:design_pattern] synonym: "nerve fiber layer of retina disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] +synonym: "nerve fibre bundle defect" RELATED OMO:0003005 [] +synonym: "nerve fibre layer of retina disease" EXACT OMO:0003005 [] +synonym: "nerve fibre layer of retina disease or disorder" EXACT OMO:0003005 [] synonym: "retinal nerve fiber bundle defects" EXACT [DOID:5678, ICD9CM:362.85] synonym: "retinal nerve fiber bundle deficiency" EXACT [DOID:5678] +synonym: "retinal nerve fibre bundle defects" EXACT OMO:0003005 [] +synonym: "retinal nerve fibre bundle deficiency" EXACT OMO:0003005 [] xref: DOID:5678 {source="MONDO:equivalentTo"} xref: ICD9:362.85 {source="DOID:5678"} xref: SCTID:193428001 {source="MONDO:equivalentTo"} @@ -57573,7 +59203,9 @@ def: "A malignant adipose tissue neoplasm of the esophagus, characterized by mul synonym: "esophageal liposarcoma" EXACT [NCIT:C5705] synonym: "esophagus liposarcoma" EXACT [MONDO:patterns/location, NCIT:C5705] synonym: "liposarcoma of esophagus" EXACT [DOID:5694, NCIT:C5705] +synonym: "liposarcoma of oesophagus" EXACT OMO:0003005 [] synonym: "liposarcoma of the esophagus" EXACT [NCIT:C5705] +synonym: "liposarcoma of the oesophagus" EXACT OMO:0003005 [] xref: DOID:5694 {source="MONDO:equivalentTo"} xref: NCIT:C5705 {source="MONDO:equivalentTo", source="DOID:5694"} xref: UMLS:C1333456 {source="MONDO:equivalentTo", source="DOID:5694", source="NCIT:C5705"} @@ -57830,14 +59462,21 @@ synonym: "non-functioning neoplasm of the pituitary" EXACT [NCIT:C4009] synonym: "non-functioning neoplasm of the pituitary gland" EXACT [NCIT:C4009] synonym: "non-functioning pituitary gland neoplasm" EXACT [NCIT:C4009] synonym: "non-functioning pituitary gland tumor" EXACT [NCIT:C4009] +synonym: "non-functioning pituitary gland tumour" EXACT OMO:0003005 [] synonym: "non-functioning pituitary neoplasm" EXACT [NCIT:C4009] synonym: "non-functioning pituitary tumor" EXACT [NCIT:C4009] +synonym: "non-functioning pituitary tumour" EXACT OMO:0003005 [] synonym: "non-functioning tumor of pituitary" EXACT [NCIT:C4009] synonym: "non-functioning tumor of pituitary gland" EXACT [NCIT:C4009] synonym: "non-functioning tumor of the pituitary" EXACT [NCIT:C4009] synonym: "non-functioning tumor of the pituitary gland" EXACT [NCIT:C4009] +synonym: "non-functioning tumour of pituitary" EXACT OMO:0003005 [] +synonym: "non-functioning tumour of pituitary gland" EXACT OMO:0003005 [] +synonym: "non-functioning tumour of the pituitary" EXACT OMO:0003005 [] +synonym: "non-functioning tumour of the pituitary gland" EXACT OMO:0003005 [] synonym: "nonfunctional pituitary gland neoplasm" EXACT [NCIT:C4009] synonym: "Nonfunctioning pituitary tumor" EXACT [NCIT:C4009] +synonym: "Nonfunctioning pituitary tumour" EXACT OMO:0003005 [] synonym: "pituitary gland non-functioning endocrine neoplasm" EXACT [MONDO:patterns/location] xref: NCIT:C4009 {source="MONDO:equivalentObsolete", source="DOID:5715"} xref: SCTID:448563005 {source="MONDO:equivalentTo"} @@ -57856,13 +59495,16 @@ synonym: "functioning endocrine neoplasm of pituitary gland" EXACT [MONDO:design synonym: "functioning pituitary gland neoplasm" EXACT [NCIT:C7047] synonym: "functioning pituitary neoplasm" EXACT [] synonym: "functioning pituitary tumor" RELATED [] +synonym: "functioning pituitary tumour" RELATED OMO:0003005 [] synonym: "growth hormone producing pituitary tumor" RELATED EXCLUDE [DOID:5716] +synonym: "growth hormone producing pituitary tumour" RELATED OMO:0003005 [] synonym: "hormone producing pituitary cancer" RELATED [DOID:5716] synonym: "hormone producing pituitary neoplasm" EXACT [NCIT:C7047] synonym: "pituitary gland functioning endocrine neoplasm" EXACT [MONDO:patterns/location] synonym: "pituitary neoplasms, hormone producing" EXACT [NCIT:C7047] synonym: "pituitary tumors, hormone producing" EXACT [DOID:5716, NCIT:C7047] synonym: "secretory pituitary tumor" RELATED [] +synonym: "secretory pituitary tumour" RELATED OMO:0003005 [] synonym: "somatotropinoma" RELATED [DOID:5716, NCIT:C7911] xref: DOID:5716 {source="MONDO:equivalentTo"} xref: ICD9:237.0 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -57895,13 +59537,17 @@ subset: gard_rare {source="GARD:0005755"} synonym: "adrenal medulla cancer" EXACT [MONDO:patterns/location] synonym: "adrenal medulla neoplasm" BROAD [DOID:5719] synonym: "adrenal medulla tumor" BROAD [DOID:5719] +synonym: "adrenal medulla tumour" BROAD OMO:0003005 [] synonym: "cancer of adrenal medulla" EXACT [MONDO:patterns/cancer] synonym: "malignant adrenal medulla neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4396] synonym: "malignant adrenal medulla tumor" EXACT [NCIT:C4396] +synonym: "malignant adrenal medulla tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of adrenal medulla" EXACT [DOID:5719, MONDO:patterns/cancer, NCIT:C4396] synonym: "malignant neoplasm of the adrenal medulla" EXACT [NCIT:C4396] synonym: "malignant tumor of adrenal medulla" EXACT [NCIT:C4396] synonym: "malignant tumor of the adrenal medulla" EXACT [DOID:5719, NCIT:C4396] +synonym: "malignant tumour of adrenal medulla" EXACT OMO:0003005 [] +synonym: "malignant tumour of the adrenal medulla" EXACT OMO:0003005 [] xref: DOID:5719 {source="MONDO:equivalentTo"} xref: ICD10CM:C74.1 {source="DOID:5719"} xref: NCIT:C4396 {source="MONDO:equivalentTo", source="DOID:5719"} @@ -57937,6 +59583,7 @@ relationship: excluded_subClassOf MONDO:0002121 {source="DOID:572"} ! mononeurit id: MONDO:0003608 name: optic atrophy def: "A disorder characterized by loss of optic nerve fibers. It may be inherited or acquired. Acquired causes include ischemia, optic nerve neuropathy, glaucoma, trauma, radiation, brain tumors, and multiple sclerosis. It leads to vision disturbances." [NCIT:P378] +synonym: "atrophy of optic disc" EXACT OMO:0003005 [] synonym: "atrophy of optic disk" EXACT [DOID:5723] xref: DOID:5723 {source="MONDO:equivalentTo"} xref: ICD10CM:H47.2 {source="MONDO:equivalentTo", source="DOID:5723"} @@ -58004,6 +59651,7 @@ synonym: "cancer of uterine ligament" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of uterine ligament" EXACT [MONDO:patterns/cancer] synonym: "malignant uterine ligament neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C126498] synonym: "tumor of the uterine ligament" RELATED EXCLUDE [DOID:5727] +synonym: "tumour of the uterine ligament" RELATED OMO:0003005 [] synonym: "uterine ligament cancer" EXACT [MONDO:patterns/location] xref: DOID:5727 {source="MONDO:equivalentTo"} xref: NCIT:C126498 {source="MONDO:equivalentTo"} @@ -58169,8 +59817,10 @@ name: small intestinal vasoactive intestinal peptide producing tumor def: "A neuroendocrine tumor that arises from the small intestine and produces vasoactive intestinal peptide." [NCIT:P378] synonym: "small intestinal vasoactive intestinal peptide producing tumor" EXACT [NCIT:C27455] synonym: "small intestinal VIP producing tumor" EXACT [DOID:5740, NCIT:C27455] +synonym: "small intestinal VIP producing tumour" EXACT OMO:0003005 [] synonym: "small intestinal VIP-producing NET" EXACT [NCIT:C27455] synonym: "small intestinal VIP-producing neuroendocrine tumor" EXACT [NCIT:C27455] +synonym: "small intestinal VIP-producing neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "small intestinal VIPoma" EXACT [NCIT:C27455] xref: DOID:5740 {source="MONDO:equivalentTo"} xref: NCIT:C27455 {source="DOID:5740", source="MONDO:equivalentTo"} @@ -58188,7 +59838,9 @@ synonym: "pancreatic vasoactive intestinal peptide producing tumor" EXACT [NCIT: synonym: "pancreatic VIP producing neoplasm" EXACT [NCIT:C27454] synonym: "pancreatic VIP producing NET" EXACT [NCIT:C27454] synonym: "pancreatic VIP producing tumor" EXACT [DOID:5741, NCIT:C27454] +synonym: "pancreatic VIP producing tumour" EXACT OMO:0003005 [] synonym: "pancreatic VIP-producing neuroendocrine tumor" EXACT [NCIT:C27454] +synonym: "pancreatic VIP-producing neuroendocrine tumour" EXACT OMO:0003005 [] xref: DOID:5741 {source="MONDO:equivalentTo"} xref: NCIT:C27454 {source="DOID:5741", source="MONDO:equivalentTo"} xref: NCIT:C95599 {source="DOID:5741"} @@ -58433,8 +60085,10 @@ synonym: "CCSTL" EXACT ABBREVIATION [NCIT:C38152] synonym: "clear cell-Sugar-tumor of lung" EXACT [NCIT:C38152] synonym: "clear cell-Sugar-tumor of the lung" EXACT [NCIT:C38152] synonym: "lung clear cell tumor" EXACT [NCIT:C38152] +synonym: "lung clear cell tumour" EXACT OMO:0003005 [] synonym: "lung clear cell-sugar-tumor" RELATED [DOID:5763] synonym: "Sugar tumor" EXACT [NCIT:C38152] +synonym: "Sugar tumour" EXACT OMO:0003005 [] xref: DOID:5763 {source="MONDO:equivalentTo"} xref: NCIT:C38152 {source="DOID:5763", source="MONDO:equivalentTo"} xref: UMLS:C1333065 {source="DOID:5763", source="MONDO:equivalentTo", source="NCIT:C38152"} @@ -58471,14 +60125,18 @@ name: lung hilum neoplasm def: "A benign or malignant neoplasm that arises from the hilar region of the lung." [NCIT:C5671] synonym: "hilar lung neoplasm" EXACT [NCIT:C5671] synonym: "hilar lung tumor" EXACT [NCIT:C5671] +synonym: "hilar lung tumour" EXACT OMO:0003005 [] synonym: "lung hilum neoplasm" EXACT [NCIT:C5671] synonym: "lung hilum tumor" EXACT [DOID:5767, NCIT:C5671] +synonym: "lung hilum tumour" EXACT OMO:0003005 [] synonym: "lung hilus neoplasm" EXACT [] synonym: "lung hilus neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "lung hilus tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "lung hilus tumour" EXACT OMO:0003005 [] synonym: "neoplasm of hilus of lung" EXACT [DOID:5767] synonym: "neoplasm of lung hilus" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of lung hilus" EXACT [MONDO:patterns/neoplasm] +synonym: "tumour of lung hilus" EXACT OMO:0003005 [] xref: DOID:5767 {source="MONDO:equivalentTo"} xref: NCIT:C5671 {source="MONDO:equivalentTo", source="DOID:5767"} xref: SCTID:126707007 {source="MONDO:equivalentTo", source="DOID:5767"} @@ -58510,13 +60168,25 @@ relationship: excluded_subClassOf MONDO:0002615 {source="DOID:5769"} ! xanthomat id: MONDO:0003641 name: central nervous system hematopoietic neoplasm def: "A primary or metastatic neoplasm of hematopoietic origin that affects the brain, meninges, or spinal cord. Representative examples include Hodgkin and non-Hodgkin lymphomas, histiocytic tumors, and leukemias." [NCIT:C5503] +synonym: "central nervous system haematopoietic and lymphoid system neoplasm" EXACT OMO:0003005 [] +synonym: "central nervous system haematopoietic neoplasms" EXACT OMO:0003005 [] +synonym: "central nervous system haematopoietic tumour" EXACT OMO:0003005 [] synonym: "central nervous system hematologic cancer" RELATED [DOID:5772] synonym: "central nervous system hematopoietic and lymphoid system neoplasm" EXACT [MONDO:patterns/location] synonym: "central nervous system hematopoietic neoplasm" EXACT [NCIT:C5503] synonym: "central nervous system hematopoietic neoplasms" EXACT [NCIT:C5503] synonym: "central nervous system hematopoietic tumor" EXACT [NCIT:C5503] +synonym: "CNS haematopoietic neoplasm" EXACT OMO:0003005 [] +synonym: "CNS haematopoietic tumour" EXACT OMO:0003005 [] synonym: "CNS hematopoietic neoplasm" EXACT [NCIT:C5503] synonym: "CNS hematopoietic tumor" EXACT [DOID:5772, NCIT:C5503] +synonym: "haematopoietic and lymphoid system neoplasm of central nervous system" EXACT OMO:0003005 [] +synonym: "haematopoietic neoplasm of central nervous system" EXACT OMO:0003005 [] +synonym: "haematopoietic neoplasm of CNS" EXACT OMO:0003005 [] +synonym: "haematopoietic neoplasm of the central nervous system" EXACT OMO:0003005 [] +synonym: "haematopoietic neoplasm of the CNS" EXACT OMO:0003005 [] +synonym: "haematopoietic tumour of central nervous system" EXACT OMO:0003005 [] +synonym: "haematopoietic tumour of the central nervous system" EXACT OMO:0003005 [] synonym: "hematopoietic and lymphoid system neoplasm of central nervous system" EXACT [MONDO:design_pattern] synonym: "hematopoietic neoplasm of central nervous system" EXACT [DOID:5772, NCIT:C5503] synonym: "hematopoietic neoplasm of CNS" EXACT [NCIT:C5503] @@ -58599,12 +60269,14 @@ synonym: "NET of the rectum" EXACT [Orphanet:100081] synonym: "neuroendocrine neoplasm of rectum" EXACT [MONDO:patterns/neuroendocrine_neoplasm, NCIT:C5698] synonym: "neuroendocrine neoplasm of the rectum" EXACT [NCIT:C5698] synonym: "neuroendocrine tumor of rectum" EXACT [DOID:5777, NCIT:C5698] +synonym: "neuroendocrine tumour of rectum" EXACT OMO:0003005 [] synonym: "rectal NET" EXACT [Orphanet:100081] synonym: "rectal neuroendocrine neoplasm" EXACT [NCIT:C5698] synonym: "rectum NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "rectum neuroendocrine neoplasm" EXACT [MONDO:patterns/location] synonym: "rectum neuroendocrine tumor" EXACT [MONDO:patterns/location, MONDO:patterns/neuroendocrine_neoplasm] synonym: "rectum neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm] +synonym: "rectum neuroendocrine tumour" EXACT OMO:0003005 [] xref: DOID:5777 {source="MONDO:equivalentTo"} xref: NCIT:C5698 {source="DOID:5777", source="MONDO:equivalentTo"} xref: Orphanet:100081 {source="MONDO:equivalentTo"} @@ -58660,13 +60332,21 @@ synonym: "esophageal neuroendocrine neoplasm" EXACT [Orphanet:506136] synonym: "esophageal neuroendocrine tumor" EXACT [NCIT:C95616] synonym: "esophageal well differentiated endocrine tumor" EXACT [NCIT:C95616] synonym: "esophageal well differentiated endocrine tumor/carcinoma" EXACT [NCIT:C95616] +synonym: "esophageal well differentiated endocrine tumour" EXACT OMO:0003005 [] synonym: "esophagus NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "esophagus neuroendocrine neoplasm" EXACT [MONDO:patterns/location] synonym: "esophagus neuroendocrine tumor" EXACT [MONDO:patterns/location, MONDO:patterns/neuroendocrine_neoplasm] synonym: "esophagus neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "NEN of esophagus" EXACT [Orphanet:506136] +synonym: "NEN of oesophagus" EXACT OMO:0003005 [] synonym: "neuroendocrine neoplasm of esophagus" EXACT [MONDO:patterns/neuroendocrine_neoplasm, Orphanet:506136] +synonym: "neuroendocrine neoplasm of oesophagus" EXACT OMO:0003005 [] synonym: "neuroendocrine tumor of esophagus" EXACT [DOID:5784, NCIT:C5821] +synonym: "neuroendocrine tumour of oesophagus" EXACT OMO:0003005 [] +synonym: "oesophagus NET" EXACT OMO:0003005 [] +synonym: "oesophagus neuroendocrine neoplasm" EXACT OMO:0003005 [] +synonym: "oesophagus neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT OMO:0003005 [] +synonym: "oesophagus neuroendocrine tumour" EXACT OMO:0003005 [] xref: DOID:5784 {source="MONDO:equivalentTo"} xref: NCIT:C5821 {source="DOID:5784"} xref: NCIT:C95616 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -58793,6 +60473,7 @@ subset: gard_rare {source="GARD:0010897"} synonym: "B-cell lymphoma, unclassifiable, with features Intermediate between diffuse large B-cell lymphoma and Classic Hodgkin lymphoma" EXACT [NCIT:C37869] synonym: "B-cell lymphoma, unclassifiable, with features Intermediate between diffuse large B-cell lymphoma and classical Hodgkin lymphoma" EXACT [NCIT:C37869] synonym: "Gray zone lymphoma" EXACT [NCIT:C37869] +synonym: "Grey zone lymphoma" EXACT OMO:0003005 [] synonym: "Hodgkin-like anaplastic large cell lymphoma" EXACT [NCIT:C37869] synonym: "large B-cell lymphoma with Hodgkin features" EXACT [NCIT:C37869] xref: DOID:5822 {source="MONDO:equivalentTo"} @@ -58874,6 +60555,7 @@ intersection_of: disease_has_location UBERON:0036262 ! uterine ligament id: MONDO:0003664 name: hemolytic anemia def: "Anemia resulting from the premature destruction of the peripheral blood red cells. It may be congenital or it may be caused by infections, medications, or malignancies." [NCIT:C34376] +synonym: "anaemia hemolytic" EXACT OMO:0003005 [] synonym: "anemia hemolytic" EXACT [DOID:583, MTH:NOCODE] synonym: "anemia, hemolytic" EXACT [NCIT:C34376] synonym: "hemolytic anemia" EXACT [NCIT:C34376] @@ -58974,10 +60656,12 @@ synonym: "seminoma of testis" EXACT [DOID:5842, NCIT:C7328, Orphanet:842] synonym: "seminoma of the testis" EXACT [NCIT:C7328] synonym: "seminoma testis" EXACT [DOID:5842] synonym: "seminomatous germ cell tumor of testis" EXACT [Orphanet:842] +synonym: "seminomatous germ cell tumour of testis" EXACT OMO:0003005 [] synonym: "testicular seminoma" EXACT [MONDO:ambiguous, NCIT:C7328, Orphanet:842] synonym: "testicular seminoma (disease)" EXACT [MONDO:0005245] synonym: "testicular seminoma Pure" EXACT [DOID:5842, NCIT:C7328] synonym: "testicular seminomatous germ cell tumor" EXACT [MONDO:0019400] +synonym: "testicular seminomatous germ cell tumour" EXACT OMO:0003005 [] synonym: "testis seminoma" EXACT [MONDO:patterns/location] xref: DOID:5842 {source="MONDO:equivalentTo"} xref: EFO:0003101 {source="MONDO:equivalentTo"} @@ -59151,6 +60835,7 @@ is_a: MONDO:0008977 {source="DOID:5861", source="NCIT:C4303", source="ONCOTREE:M id: MONDO:0003682 name: localized chondrosarcoma def: "A non-disseminated skeletal or extraskeletal chondrosarcoma." [NCIT:C8778] +synonym: "chondrosarcoma, localised" EXACT OMO:0003005 [] synonym: "chondrosarcoma, localized" EXACT [NCIT:C8778] synonym: "localized chondrosarcoma" EXACT [NCIT:C8778] xref: DOID:5862 {source="MONDO:equivalentTo"} @@ -59180,7 +60865,10 @@ synonym: "germ cell neoplasm of retroperitoneum" EXACT [NCIT:C6447] synonym: "germ cell neoplasm of the retroperitoneum" EXACT [NCIT:C6447] synonym: "germ cell tumor of retroperitoneum" EXACT [DOID:5874, NCIT:C6447] synonym: "germ cell tumor of the retroperitoneum" EXACT [NCIT:C6447] +synonym: "germ cell tumour of retroperitoneum" EXACT OMO:0003005 [] +synonym: "germ cell tumour of the retroperitoneum" EXACT OMO:0003005 [] synonym: "retroperitoneal germ cell tumor" EXACT [NCIT:C6447] +synonym: "retroperitoneal germ cell tumour" EXACT OMO:0003005 [] xref: DOID:5874 {source="MONDO:equivalentTo"} xref: NCIT:C6447 {source="DOID:5874", source="MONDO:equivalentTo"} xref: UMLS:C1335776 {source="DOID:5874", source="MONDO:equivalentTo", source="NCIT:C6447"} @@ -59197,13 +60885,19 @@ synonym: "apocrine neoplasm of skin" EXACT [NCIT:C6798] synonym: "apocrine neoplasm of the skin" EXACT [NCIT:C6798] synonym: "apocrine skin neoplasm" EXACT [NCIT:C6798] synonym: "apocrine skin tumor" EXACT [NCIT:C6798] +synonym: "apocrine skin tumour" EXACT OMO:0003005 [] synonym: "apocrine sweat gland neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "apocrine sweat gland tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "apocrine sweat gland tumour" EXACT OMO:0003005 [] synonym: "apocrine tumor" EXACT [DOID:5876, NCIT:C6798] synonym: "apocrine tumor of skin" EXACT [NCIT:C6798] synonym: "apocrine tumor of the skin" EXACT [NCIT:C6798] +synonym: "apocrine tumour" EXACT OMO:0003005 [] +synonym: "apocrine tumour of skin" EXACT OMO:0003005 [] +synonym: "apocrine tumour of the skin" EXACT OMO:0003005 [] synonym: "neoplasm of apocrine sweat gland" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of apocrine sweat gland" EXACT [MONDO:patterns/neoplasm] +synonym: "tumour of apocrine sweat gland" EXACT OMO:0003005 [] xref: DOID:5876 {source="MONDO:equivalentTo"} xref: NCIT:C6798 {source="DOID:5876", source="MONDO:equivalentTo"} xref: UMLS:C0346028 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C6798"} @@ -59220,11 +60914,14 @@ synonym: "cancer of endocardium" EXACT [MONDO:patterns/cancer] synonym: "endocardium cancer" EXACT [MONDO:patterns/location] synonym: "malignant endocardial neoplasm" EXACT [NCIT:C4570] synonym: "malignant endocardial tumor" EXACT [DOID:5877, NCIT:C4570] +synonym: "malignant endocardial tumour" EXACT OMO:0003005 [] synonym: "malignant endocardium neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of endocardium" EXACT [DOID:5877, MONDO:patterns/cancer, NCIT:C4570] synonym: "malignant neoplasm of the endocardium" EXACT [NCIT:C4570] synonym: "malignant tumor of endocardium" EXACT [DOID:5877, NCIT:C4570] synonym: "malignant tumor of the endocardium" EXACT [NCIT:C4570] +synonym: "malignant tumour of endocardium" EXACT OMO:0003005 [] +synonym: "malignant tumour of the endocardium" EXACT OMO:0003005 [] xref: DOID:5877 {source="MONDO:equivalentTo"} xref: NCIT:C4570 {source="MONDO:equivalentTo", source="DOID:5877"} xref: NCIT:C5346 {source="DOID:5877"} @@ -59249,10 +60946,13 @@ synonym: "WDPM" EXACT ABBREVIATION [NCIT:C7635] synonym: "well differentiated papillary mesothelioma" EXACT [NCIT:C7635] synonym: "well-differentiated mesothelial papillary neoplasm" EXACT [NCIT:C7635] synonym: "well-differentiated mesothelial papillary tumor" EXACT [NCIT:C7635] +synonym: "well-differentiated mesothelial papillary tumour" EXACT OMO:0003005 [] synonym: "well-differentiated papillary neoplasm of mesothelium" EXACT [NCIT:C7635] synonym: "well-differentiated papillary neoplasm of the mesothelium" EXACT [NCIT:C7635] synonym: "well-differentiated papillary tumor of mesothelium" EXACT [DOID:5884, NCIT:C7635] synonym: "well-differentiated papillary tumor of the mesothelium" EXACT [NCIT:C7635] +synonym: "well-differentiated papillary tumour of mesothelium" EXACT OMO:0003005 [] +synonym: "well-differentiated papillary tumour of the mesothelium" EXACT OMO:0003005 [] xref: DOID:5884 {source="MONDO:equivalentTo"} xref: ICDO:9052/1 {source="NCIT:C7635"} xref: NCIT:C7635 {source="DOID:5884", source="MONDO:equivalentTo"} @@ -59264,8 +60964,11 @@ id: MONDO:0003689 name: familial hemolytic anemia def: "A congenital hemolytic anemia caused by defects of the erythrocyte membrane, enzyme deficiencies, or hemoglobinopathies." [NCIT:C34379] subset: gard_rare {source="GARD:0006167"} +synonym: "anaemia hemolytic congenital" RELATED OMO:0003005 [] synonym: "anemia hemolytic congenital" RELATED [GARD:0006167] +synonym: "congenital hemolytic anaemia" EXACT OMO:0003005 [] synonym: "congenital hemolytic anemia" EXACT [NCIT:C34379] +synonym: "hereditary hemolytic anaemia" EXACT OMO:0003005 [] synonym: "hereditary hemolytic anemia" EXACT [DOID:589, MONDO:patterns/hereditary, NCIT:C34379] xref: DOID:589 {source="MONDO:equivalentTo"} xref: ICD10CM:D58.9 {source="DOID:589"} @@ -59310,6 +61013,7 @@ def: "A malignant mesenchymoma occurring in children." [NCIT:C8097] synonym: "childhood malignant mesenchymoma" EXACT [NCIT:C8097] synonym: "malignant mesenchymoma" BROAD [NCIT:C8097] synonym: "malignant mesenchymoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] +synonym: "paediatric malignant mesenchymoma" EXACT OMO:0003005 [] synonym: "pediatric malignant mesenchymoma" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] xref: DOID:5893 {source="MONDO:equivalentTo"} xref: NCIT:C8097 {source="DOID:5893", source="MONDO:equivalentTo"} @@ -59454,15 +61158,20 @@ def: "A neoplasm (disease) that involves the brachial nerve plexus." [MONDO:patt synonym: "brachial nerve plexus neoplasm" EXACT [] synonym: "brachial nerve plexus neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "brachial nerve plexus tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "brachial nerve plexus tumour" EXACT OMO:0003005 [] synonym: "brachial plexus neoplasm" EXACT [NCIT:C5823] synonym: "brachial plexus neoplasms" EXACT [NCIT:C5823] synonym: "brachial plexus tumor" EXACT [NCIT:C5823] +synonym: "brachial plexus tumour" EXACT OMO:0003005 [] synonym: "neoplasm of brachial nerve plexus" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of brachial plexus" EXACT [NCIT:C5823] synonym: "neoplasm of the brachial plexus" EXACT [NCIT:C5823] synonym: "tumor of brachial nerve plexus" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of brachial plexus" EXACT [NCIT:C5823] synonym: "tumor of the brachial plexus" EXACT [DOID:5913, NCIT:C5823] +synonym: "tumour of brachial nerve plexus" EXACT OMO:0003005 [] +synonym: "tumour of brachial plexus" EXACT OMO:0003005 [] +synonym: "tumour of the brachial plexus" EXACT OMO:0003005 [] xref: DOID:5913 {source="MONDO:equivalentTo"} xref: NCIT:C5823 {source="MONDO:equivalentTo", source="DOID:5913", source="MONDO:exact-label-match"} xref: UMLS:C1332602 {source="MONDO:equivalentTo", source="DOID:5913", source="NCIT:C5823"} @@ -59479,6 +61188,7 @@ synonym: "nonencapsulated sclerosing carcinoma" EXACT [NCIT:C7427] synonym: "nonencapsulated sclerosing neoplasm" EXACT [DOID:5914, NCIT:C7427] synonym: "nonencapsulated sclerosing papillary thyroid carcinoma" EXACT [NCIT:C7427] synonym: "nonencapsulated sclerosing tumor" EXACT [NCIT:C7427] +synonym: "nonencapsulated sclerosing tumour" EXACT OMO:0003005 [] synonym: "papillary carcinoma, diffuse sclerosing" EXACT [DOID:5914] synonym: "thyroid gland diffuse sclerosing papillary carcinoma" EXACT [NCIT:C7427] xref: DOID:5914 {source="MONDO:equivalentTo"} @@ -59614,9 +61324,14 @@ synonym: "mixed germ cell neoplasm of the ovary" EXACT [NCIT:C8114] synonym: "mixed germ cell tumor" RELATED [ONCOTREE:OMGCT] synonym: "mixed germ cell tumor of ovary" EXACT [DOID:5936, NCIT:C8114] synonym: "mixed germ cell tumor of the ovary" EXACT [NCIT:C8114] +synonym: "mixed germ cell tumour" RELATED OMO:0003005 [] +synonym: "mixed germ cell tumour of ovary" EXACT OMO:0003005 [] +synonym: "mixed germ cell tumour of the ovary" EXACT OMO:0003005 [] synonym: "ovarian mixed germ cell neoplasm" EXACT [NCIT:C8114] synonym: "ovarian mixed germ cell tumor" EXACT [NCIT:C8114] +synonym: "ovarian mixed germ cell tumour" EXACT OMO:0003005 [] synonym: "ovary mixed germ cell tumor" EXACT [MONDO:patterns/location] +synonym: "ovary mixed germ cell tumour" EXACT OMO:0003005 [] xref: DOID:5936 {source="MONDO:equivalentTo"} xref: NCIT:C8114 {source="MONDO:equivalentTo", source="DOID:5936"} xref: ONCOTREE:OMGCT {source="MONDO:equivalentTo"} @@ -59710,6 +61425,8 @@ synonym: "papillary neoplasm of renal pelvis" EXACT [DOID:5975, NCIT:C8603] synonym: "papillary neoplasm of the renal pelvis" EXACT [NCIT:C8603] synonym: "papillary tumor of renal pelvis" EXACT [NCIT:C8603] synonym: "papillary tumor of the renal pelvis" EXACT [NCIT:C8603] +synonym: "papillary tumour of renal pelvis" EXACT OMO:0003005 [] +synonym: "papillary tumour of the renal pelvis" EXACT OMO:0003005 [] synonym: "renal pelvis papillary tumor" EXACT [NCIT:C8603] synonym: "renal pelvis papillary urothelial neoplasm" EXACT [NCIT:C8603] xref: DOID:5975 {source="MONDO:equivalentTo"} @@ -59742,6 +61459,7 @@ name: renal pelvis neoplasm def: "A neoplasm (disease) that involves the renal pelvis." [MONDO:patterns/location] synonym: "kidney pelvis neoplasm" EXACT [NCIT:C8404] synonym: "kidney pelvis tumor" EXACT [NCIT:C8404] +synonym: "kidney pelvis tumour" EXACT OMO:0003005 [] synonym: "neoplasm of kidney pelvis" EXACT [NCIT:C8404] synonym: "neoplasm of renal pelvis" EXACT [MONDO:patterns/neoplasm, NCIT:C8404] synonym: "neoplasm of the kidney pelvis" EXACT [NCIT:C8404] @@ -59749,10 +61467,15 @@ synonym: "neoplasm of the renal pelvis" EXACT [NCIT:C8404] synonym: "renal pelvis neoplasm" EXACT [NCIT:C8404] synonym: "renal pelvis neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "renal pelvis tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C8404] +synonym: "renal pelvis tumour" EXACT OMO:0003005 [] synonym: "tumor of kidney pelvis" EXACT [DOID:5977, NCIT:C8404] synonym: "tumor of renal pelvis" EXACT [MONDO:patterns/neoplasm, NCIT:C8404] synonym: "tumor of the kidney pelvis" EXACT [NCIT:C8404] synonym: "tumor of the renal pelvis" EXACT [NCIT:C8404] +synonym: "tumour of kidney pelvis" EXACT OMO:0003005 [] +synonym: "tumour of renal pelvis" EXACT OMO:0003005 [] +synonym: "tumour of the kidney pelvis" EXACT OMO:0003005 [] +synonym: "tumour of the renal pelvis" EXACT OMO:0003005 [] xref: DOID:5977 {source="MONDO:equivalentTo"} xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C8404 {source="DOID:5977", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -59915,6 +61638,7 @@ id: MONDO:0003729 name: aleukemic leukemia cutis def: "Infiltration of the skin and subcutaneous tissue by leukemic cells without evidence of leukemia in the bone marrow and peripheral blood. It results in clinically identifiable skin lesions. It may be the first manifestation of acute leukemia, preceding the involvement of the bone marrow and peripheral blood by the leukemic process." [NCIT:C4983] synonym: "aleukemic leukemia cutis" EXACT [NCIT:C4983] +synonym: "leukaemia subleukemic" RELATED OMO:0003005 [] synonym: "leukemia subleukemic" RELATED [GARD:0006892] xref: DOID:6003 {source="MONDO:equivalentTo"} xref: NCIT:C4983 {source="DOID:6003", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -59927,6 +61651,7 @@ name: aleukemic leukemia def: "A leukemia characterized by the absence of leukemic cells in the peripheral blood." [NCIT:C4982] synonym: "aleukemic leukemia" EXACT [NCIT:C4982] synonym: "aleukemic myelosis" RELATED [DOID:6004] +synonym: "subleukemic leukaemia" RELATED OMO:0003005 [] synonym: "subleukemic leukemia" RELATED [DOID:12965] xref: DOID:12965 {source="MONDO:equivalentTo"} xref: DOID:6004 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} @@ -60097,8 +61822,11 @@ name: juvenile type testicular granulosa cell tumor def: "A rare sex cord-stromal tumor that arises from the testis. It is the most frequent congenital testicular neoplasm and is usually diagnosed during the perinatal period. It usually presents as an asymptomatic scrotal or abdominal mass. Morphologically it is characterized by the presence of cysts that are lined by cells resembling granulosa and theca cells." [NCIT:P378] synonym: "juvenile granulosa cell tumor" BROAD [DOID:6032] synonym: "juvenile granulosa cell tumor (morphologic abnormality)" BROAD [DOID:6032] +synonym: "juvenile granulosa cell tumour" BROAD OMO:0003005 [] +synonym: "juvenile granulosa cell tumour (morphologic abnormality)" BROAD OMO:0003005 [] synonym: "juvenile type granulosa cell neoplasm" BROAD [DOID:6032] synonym: "juvenile type granulosa cell tumor" BROAD [DOID:6032, NCIT:C4207] +synonym: "juvenile type granulosa cell tumour" BROAD OMO:0003005 [] xref: DOID:6032 {source="MONDO:equivalentTo"} xref: NCIT:C39947 {source="MONDO:equivalentTo", source="DOID:6032"} xref: SCTID:189735004 {source="DOID:6032"} @@ -60134,6 +61862,7 @@ def: "A malignant hemangiopericytoma arising in the heart." [NCIT:P378] comment: Editor note: check SFT/hemangiopericytoma/spindle cell tumor synonym: "heart hemangiopericytoma" EXACT [MONDO:patterns/location] synonym: "heart spindle cell tumor" EXACT [MONDO:patterns/location] +synonym: "heart spindle cell tumour" EXACT OMO:0003005 [] synonym: "malignant Cardiac hemangiopericytoma" EXACT [NCIT:C5365] synonym: "malignant heart hemangiopericytoma" EXACT [NCIT:C5365] synonym: "malignant hemangiopericytoma of heart" EXACT [DOID:6034, NCIT:C5365] @@ -60224,12 +61953,17 @@ name: esophageal disorder def: "A non-neoplastic or neoplastic disorder that affects the esophagus. Representative examples of non-neoplastic disorders include esophagitis and esophageal ulcer. Representative examples of neoplastic disorders include carcinomas, lymphomas, and melanomas." [NCIT:C3027] subset: rare_grouping synonym: "disease of esophagus" EXACT [MONDO:patterns/location_top] +synonym: "disease of oesophagus" EXACT OMO:0003005 [] synonym: "disease or disorder of esophagus" EXACT [] +synonym: "disease or disorder of oesophagus" EXACT OMO:0003005 [] synonym: "disorder of esophagus" EXACT [MONDO:patterns/location_top] +synonym: "disorder of oesophagus" EXACT OMO:0003005 [] synonym: "esophageal disorder" EXACT [NCIT:C3027] synonym: "esophageal ulcer" NARROW [DOID:6050, NCIT:C26950] synonym: "esophagus disease" EXACT [MONDO:patterns/location] synonym: "esophagus disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] +synonym: "oesophagus disease" EXACT OMO:0003005 [] +synonym: "oesophagus disease or disorder" EXACT OMO:0003005 [] xref: DOID:6050 {source="MONDO:equivalentTo"} xref: ICD10CM:K20-K31 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:K22.9 {source="DOID:6050"} @@ -60256,12 +61990,16 @@ id: MONDO:0003750 name: childhood central nervous system germ cell tumor def: "A germ cell tumor of the central nervous system occurring in children." [NCIT:C6205] synonym: "central nervous system childhood germ cell tumor" EXACT [MONDO:patterns/location] +synonym: "central nervous system childhood germ cell tumour" EXACT OMO:0003005 [] synonym: "central nervous system germ cell tumor" BROAD [NCIT:C6205] +synonym: "central nervous system germ cell tumour" BROAD OMO:0003005 [] +synonym: "central nervous system paediatric germ cell cancer" EXACT OMO:0003005 [] synonym: "central nervous system pediatric germ cell cancer" EXACT [MONDO:patterns/location] synonym: "childhood central nervous system germ cell neoplasm" EXACT [NCIT:C6205] synonym: "childhood central nervous system germ cell tumor" EXACT [NCIT:C6205] synonym: "childhood CNS germ cell neoplasm" EXACT [NCIT:C6205] synonym: "childhood CNS germ cell tumor" EXACT [NCIT:C6205] +synonym: "childhood CNS germ cell tumour" EXACT OMO:0003005 [] synonym: "childhood germ cell neoplasm of central nervous system" EXACT [NCIT:C6205] synonym: "childhood germ cell neoplasm of CNS" EXACT [NCIT:C6205] synonym: "childhood germ cell neoplasm of the central nervous system" EXACT [NCIT:C6205] @@ -60270,6 +62008,22 @@ synonym: "childhood germ cell tumor of central nervous system" EXACT [NCIT:C6205 synonym: "childhood germ cell tumor of CNS" EXACT [NCIT:C6205] synonym: "childhood germ cell tumor of the central nervous system" EXACT [NCIT:C6205] synonym: "childhood germ cell tumor of the CNS" EXACT [NCIT:C6205] +synonym: "childhood germ cell tumour of central nervous system" EXACT OMO:0003005 [] +synonym: "childhood germ cell tumour of CNS" EXACT OMO:0003005 [] +synonym: "childhood germ cell tumour of the central nervous system" EXACT OMO:0003005 [] +synonym: "childhood germ cell tumour of the CNS" EXACT OMO:0003005 [] +synonym: "paediatric central nervous system germ cell neoplasm" EXACT OMO:0003005 [] +synonym: "paediatric central nervous system germ cell tumour" EXACT OMO:0003005 [] +synonym: "paediatric CNS germ cell neoplasm" EXACT OMO:0003005 [] +synonym: "paediatric CNS germ cell tumour" EXACT OMO:0003005 [] +synonym: "paediatric germ cell neoplasm of central nervous system" EXACT OMO:0003005 [] +synonym: "paediatric germ cell neoplasm of CNS" EXACT OMO:0003005 [] +synonym: "paediatric germ cell neoplasm of the central nervous system" EXACT OMO:0003005 [] +synonym: "paediatric germ cell neoplasm of the CNS" EXACT OMO:0003005 [] +synonym: "paediatric germ cell tumour of central nervous system" EXACT OMO:0003005 [] +synonym: "paediatric germ cell tumour of CNS" EXACT OMO:0003005 [] +synonym: "paediatric germ cell tumour of the central nervous system" EXACT OMO:0003005 [] +synonym: "paediatric germ cell tumour of the CNS" EXACT OMO:0003005 [] synonym: "pediatric central nervous system germ cell neoplasm" EXACT [NCIT:C6205] synonym: "pediatric central nervous system germ cell tumor" EXACT [NCIT:C6205] synonym: "pediatric CNS germ cell neoplasm" EXACT [NCIT:C6205] @@ -60297,6 +62051,10 @@ def: "A germ cell tumor that occurs during childhood." [NCIT:C7928] synonym: "childhood germ cell neoplasm" EXACT [NCIT:C7928] synonym: "childhood germ cell tumor" EXACT [NCIT:C7928] synonym: "germ cell tumor" BROAD [NCIT:C7928] +synonym: "germ cell tumour" BROAD OMO:0003005 [] +synonym: "paediatric germ cell cancer" RELATED OMO:0003005 [] +synonym: "paediatric germ cell neoplasm" EXACT OMO:0003005 [] +synonym: "paediatric germ cell tumour" EXACT OMO:0003005 [] synonym: "pediatric germ cell cancer" RELATED [DOID:6053] synonym: "pediatric germ cell neoplasm" EXACT [DOID:6053, NCIT:C7928] synonym: "pediatric germ cell tumor" EXACT [DOID:6053, NCIT:C7928] @@ -60387,8 +62145,11 @@ synonym: "mucinous neoplasm of ovary" EXACT [NCIT:C5242] synonym: "mucinous neoplasm of the ovary" EXACT [NCIT:C5242] synonym: "mucinous tumor of ovary" EXACT [DOID:6067, NCIT:C5242] synonym: "mucinous tumor of the ovary" EXACT [NCIT:C5242] +synonym: "mucinous tumour of ovary" EXACT OMO:0003005 [] +synonym: "mucinous tumour of the ovary" EXACT OMO:0003005 [] synonym: "ovarian mucinous neoplasm" EXACT [NCIT:C5242] synonym: "ovarian mucinous tumor" EXACT [DOID:6067, NCIT:C5242] +synonym: "ovarian mucinous tumour" EXACT OMO:0003005 [] xref: DOID:6067 {source="MONDO:equivalentTo"} xref: NCIT:C40033 {source="DOID:6067"} xref: NCIT:C5242 {source="MONDO:equivalentTo", source="DOID:6067"} @@ -60423,10 +62184,14 @@ name: childhood testicular germ cell tumor def: "A germ cell tumor that arises from the testis during childhood." [NCIT:C6552] synonym: "childhood testicular germ cell neoplasm" EXACT [NCIT:C6552] synonym: "childhood testicular germ cell tumor" EXACT [NCIT:C6552] +synonym: "paediatric testicular germ cell neoplasm" EXACT OMO:0003005 [] +synonym: "paediatric testicular germ cell tumour" EXACT OMO:0003005 [] synonym: "pediatric testicular germ cell neoplasm" EXACT [DOID:6082, NCIT:C6552] synonym: "pediatric testicular germ cell tumor" EXACT [MONDO:patterns/childhood, NCIT:C6552] synonym: "testicular germ cell tumor" BROAD [NCIT:C6552] synonym: "testicular germ cell tumor of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] +synonym: "testicular germ cell tumour" BROAD OMO:0003005 [] +synonym: "testicular germ cell tumour of childhood" EXACT OMO:0003005 [] xref: DOID:6082 {source="MONDO:equivalentTo"} xref: NCIT:C6552 {source="DOID:6082", source="MONDO:equivalentTo"} xref: UMLS:C0796663 {source="DOID:6082", source="MONDO:equivalentTo"} @@ -60441,9 +62206,15 @@ name: childhood ovarian yolk sac tumor def: "A yolk sac tumor that arises from the ovary and occurs in children." [NCIT:C6551] synonym: "childhood ovarian endodermal sinus neoplasm" EXACT [DOID:6083, NCIT:C6551] synonym: "childhood ovarian endodermal sinus tumor" RELATED [NCIT:C6551] +synonym: "childhood ovarian endodermal sinus tumour" RELATED OMO:0003005 [] synonym: "childhood ovarian yolk Sac neoplasm" RELATED [NCIT:C6551] synonym: "childhood ovarian yolk sac tumor" EXACT [NCIT:C6551] synonym: "ovary childhood endodermal sinus tumor" EXACT [MONDO:patterns/location] +synonym: "ovary childhood endodermal sinus tumour" EXACT OMO:0003005 [] +synonym: "paediatric ovarian endodermal sinus neoplasm" RELATED OMO:0003005 [] +synonym: "paediatric ovarian endodermal sinus tumour" RELATED OMO:0003005 [] +synonym: "paediatric ovarian yolk Sac neoplasm" RELATED OMO:0003005 [] +synonym: "paediatric ovarian yolk Sac tumour" EXACT OMO:0003005 [] synonym: "pediatric ovarian endodermal sinus neoplasm" RELATED [NCIT:C6551] synonym: "pediatric ovarian endodermal sinus tumor" RELATED [NCIT:C6551] synonym: "pediatric ovarian yolk Sac neoplasm" RELATED [NCIT:C6551] @@ -60462,8 +62233,12 @@ name: pediatric ovarian germ cell tumor def: "A germ cell tumor that arises from the ovary and occurs in children." [NCIT:P378] synonym: "childhood ovarian germ cell neoplasm" EXACT [NCIT:C8588] synonym: "childhood ovarian germ cell tumor" EXACT [NCIT:C8588] +synonym: "childhood ovarian germ cell tumour" EXACT OMO:0003005 [] synonym: "ovarian germ cell tumor" BROAD [NCIT:C8588] synonym: "ovarian germ cell tumor of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] +synonym: "ovarian germ cell tumour" BROAD OMO:0003005 [] +synonym: "ovarian germ cell tumour of childhood" EXACT OMO:0003005 [] +synonym: "paediatric ovarian germ cell neoplasm" EXACT OMO:0003005 [] synonym: "pediatric ovarian germ cell neoplasm" EXACT [DOID:6084, NCIT:C8588] synonym: "pediatric ovarian germ cell tumor" EXACT [MONDO:patterns/childhood, NCIT:C8588] xref: DOID:6084 {source="MONDO:equivalentTo"} @@ -60512,6 +62287,8 @@ synonym: "malignant neoplasm of leptomeninx" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of the leptomeninges" RELATED [NCIT:C8506] synonym: "malignant tumor of leptomeninges" EXACT [DOID:6086, NCIT:C8506] synonym: "malignant tumor of the leptomeninges" RELATED [NCIT:C8506] +synonym: "malignant tumour of leptomeninges" EXACT OMO:0003005 [] +synonym: "malignant tumour of the leptomeninges" RELATED OMO:0003005 [] xref: DOID:6086 {source="MONDO:equivalentTo"} xref: NCIT:C8506 {source="MONDO:equivalentTo", source="DOID:6086", source="NCIT:C8506"} xref: UMLS:C1334596 {source="MONDO:equivalentTo", source="DOID:6086", source="NCIT:C8506"} @@ -60551,6 +62328,7 @@ name: pediatric leptomeningeal melanoma def: "A melanoma that arises from leptomeningeal melanocytes and occurs in childhood." [NCIT:P378] synonym: "childhood leptomeningeal melanoma" EXACT [NCIT:C5318] synonym: "childhood meningeal melanoma" EXACT [NCIT:C5318] +synonym: "paediatric meningeal melanoma" EXACT OMO:0003005 [] synonym: "pediatric meningeal melanoma" EXACT [NCIT:C5318] xref: DOID:6089 {source="MONDO:equivalentTo"} xref: NCIT:C5318 {source="MONDO:equivalentTo", source="DOID:6089"} @@ -60586,14 +62364,21 @@ synonym: "malignant thalamic neoplasm" EXACT [NCIT:C4576] synonym: "malignant thalamic neoplasms" EXACT [NCIT:C4576] synonym: "malignant thalamic tumor" EXACT [NCIT:C4576] synonym: "malignant thalamic tumors" EXACT [NCIT:C4576] +synonym: "malignant thalamic tumour" EXACT OMO:0003005 [] +synonym: "malignant thalamic tumours" EXACT OMO:0003005 [] synonym: "malignant thalamus neoplasm" EXACT [NCIT:C4576] synonym: "malignant thalamus neoplasms" EXACT [NCIT:C4576] synonym: "malignant thalamus tumor" EXACT [NCIT:C4576] synonym: "malignant thalamus tumors" EXACT [NCIT:C4576] +synonym: "malignant thalamus tumour" EXACT OMO:0003005 [] +synonym: "malignant thalamus tumours" EXACT OMO:0003005 [] synonym: "malignant tumor of thalamus" EXACT [DOID:6098, NCIT:C4576] synonym: "malignant tumor of the thalamus" EXACT [NCIT:C4576] +synonym: "malignant tumour of thalamus" EXACT OMO:0003005 [] +synonym: "malignant tumour of the thalamus" EXACT OMO:0003005 [] synonym: "thalamic neoplasm" RELATED [DOID:6098] synonym: "tumor of thalamus" EXACT [DOID:6098, NCIT:C6221] +synonym: "tumour of thalamus" EXACT OMO:0003005 [] xref: DOID:6098 {source="MONDO:equivalentTo"} xref: NCIT:C4576 {source="MONDO:equivalentTo", source="DOID:6098"} xref: NCIT:C6221 {source="DOID:6098"} @@ -61005,6 +62790,9 @@ synonym: "childhood choriocarcinoma of testis" EXACT [NCIT:C6544] synonym: "childhood choriocarcinoma of the testis" EXACT [NCIT:C6544] synonym: "childhood testicular choriocarcinoma" EXACT [NCIT:C6544] synonym: "choriocarcinoma of testis of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] +synonym: "paediatric choriocarcinoma of testis" EXACT OMO:0003005 [] +synonym: "paediatric choriocarcinoma of the testis" EXACT OMO:0003005 [] +synonym: "paediatric testicular choriocarcinoma" EXACT OMO:0003005 [] synonym: "pediatric choriocarcinoma of testis" EXACT [MONDO:patterns/childhood, NCIT:C6544] synonym: "pediatric choriocarcinoma of the testis" EXACT [NCIT:C6544] synonym: "pediatric testicular choriocarcinoma" EXACT [DOID:6160, NCIT:C6544] @@ -61022,7 +62810,11 @@ def: "A malignant mixed germ cell neoplasm that arises from the testis during ch synonym: "childhood mixed testicular germ cell cancer" EXACT [MONDO:design_pattern] synonym: "childhood testicular mixed germ cell neoplasm" RELATED [NCIT:C6542] synonym: "childhood testicular mixed germ cell tumor" RELATED [NCIT:C6542] +synonym: "childhood testicular mixed germ cell tumour" RELATED OMO:0003005 [] synonym: "mixed testicular germ cell cancer of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] +synonym: "paediatric mixed testicular germ cell cancer" EXACT OMO:0003005 [] +synonym: "paediatric testicular mixed germ cell neoplasm" RELATED OMO:0003005 [] +synonym: "paediatric testicular mixed germ cell tumour" RELATED OMO:0003005 [] synonym: "pediatric mixed testicular germ cell cancer" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "pediatric testicular mixed germ cell neoplasm" RELATED [NCIT:C6542] synonym: "pediatric testicular mixed germ cell tumor" RELATED [DOID:6161, NCIT:C6542] @@ -61040,6 +62832,9 @@ def: "An embryonal carcinoma that arises from the testis during childhood." [NCI synonym: "childhood embryonal carcinoma of testis" EXACT [NCIT:C6545] synonym: "childhood embryonal carcinoma of the testis" EXACT [DOID:6162, NCIT:C6545] synonym: "childhood testicular embryonal carcinoma" EXACT [NCIT:C6545] +synonym: "paediatric embryonal carcinoma of testis" EXACT OMO:0003005 [] +synonym: "paediatric embryonal carcinoma of the testis" EXACT OMO:0003005 [] +synonym: "paediatric testicular embryonal carcinoma" EXACT OMO:0003005 [] synonym: "pediatric embryonal carcinoma of testis" EXACT [NCIT:C6545] synonym: "pediatric embryonal carcinoma of the testis" EXACT [NCIT:C6545] synonym: "pediatric testicular embryonal carcinoma" EXACT [DOID:6162, MONDO:patterns/childhood, NCIT:C6545] @@ -61117,28 +62912,44 @@ synonym: "malignant mixed mesodermal Mullerian neoplasm of ovary" EXACT [NCIT:C9 synonym: "malignant mixed mesodermal Mullerian neoplasm of the ovary" EXACT [NCIT:C9192] synonym: "malignant mixed mesodermal Mullerian tumor of ovary" EXACT [NCIT:C9192] synonym: "malignant mixed mesodermal Mullerian tumor of the ovary" EXACT [NCIT:C9192] +synonym: "malignant mixed mesodermal Mullerian tumour of ovary" EXACT OMO:0003005 [] +synonym: "malignant mixed mesodermal Mullerian tumour of the ovary" EXACT OMO:0003005 [] synonym: "malignant mixed mesodermal Müllerian neoplasm of ovary" EXACT [NCIT:C9192] synonym: "malignant mixed mesodermal Müllerian neoplasm of the ovary" EXACT [NCIT:C9192] synonym: "malignant mixed mesodermal Müllerian tumor of ovary" EXACT [NCIT:C9192] synonym: "malignant mixed mesodermal Müllerian tumor of the ovary" EXACT [NCIT:C9192] +synonym: "malignant mixed mesodermal Müllerian tumour of ovary" EXACT OMO:0003005 [] +synonym: "malignant mixed mesodermal Müllerian tumour of the ovary" EXACT OMO:0003005 [] synonym: "malignant mixed Müllerian tumor of the ovary" RELATED [Orphanet:213512] +synonym: "malignant mixed Müllerian tumour of the ovary" RELATED OMO:0003005 [] synonym: "MMMT of the ovary" EXACT [Orphanet:213512] synonym: "ovarian carcinosarcoma" EXACT [MONDO:0006331, NCIT:C9192, Orphanet:213512] synonym: "ovarian carcinosarcoma/malignant mixed mesodermal tumor" RELATED [ONCOTREE:OCS] +synonym: "ovarian carcinosarcoma/malignant mixed mesodermal tumour" RELATED OMO:0003005 [] synonym: "ovarian malignant mesodermal (Mullerian) mixed tumor" EXACT [NCIT:C9192] synonym: "ovarian malignant mesodermal (mullerian) mixed tumor" EXACT [DOID:6170] +synonym: "ovarian malignant mesodermal (Mullerian) mixed tumour" EXACT OMO:0003005 [] +synonym: "ovarian malignant mesodermal (mullerian) mixed tumour" EXACT OMO:0003005 [] synonym: "ovarian malignant mesodermal (Müllerian) mixed tumor" EXACT [NCIT:C9192] +synonym: "ovarian malignant mesodermal (Müllerian) mixed tumour" EXACT OMO:0003005 [] synonym: "ovarian malignant mixed epithelial mesenchymal tumor" EXACT [Orphanet:213512] +synonym: "ovarian malignant mixed epithelial mesenchymal tumour" EXACT OMO:0003005 [] synonym: "ovarian malignant mixed mesodermal (Mullerian) tumor" EXACT [NCIT:C9192] +synonym: "ovarian malignant mixed mesodermal (Mullerian) tumour" EXACT OMO:0003005 [] synonym: "ovarian malignant mixed mesodermal (Müllerian) tumor" EXACT [NCIT:C9192] +synonym: "ovarian malignant mixed mesodermal (Müllerian) tumour" EXACT OMO:0003005 [] synonym: "ovarian malignant mixed mesodermal Mullerian neoplasm" EXACT [NCIT:C9192] synonym: "ovarian malignant mixed mesodermal Mullerian tumor" EXACT [NCIT:C9192] +synonym: "ovarian malignant mixed mesodermal Mullerian tumour" EXACT OMO:0003005 [] synonym: "ovarian malignant mixed mesodermal Müllerian neoplasm" EXACT [NCIT:C9192] synonym: "ovarian malignant mixed mesodermal Müllerian tumor" EXACT [NCIT:C9192] +synonym: "ovarian malignant mixed mesodermal Müllerian tumour" EXACT OMO:0003005 [] synonym: "ovarian malignant mixed Mullerian neoplasm" EXACT [NCIT:C9192] synonym: "ovarian malignant mixed Mullerian tumor" EXACT [DOID:6170, NCIT:C9192, Orphanet:213512] +synonym: "ovarian malignant mixed Mullerian tumour" EXACT OMO:0003005 [] synonym: "ovarian malignant mixed Müllerian neoplasm" EXACT [NCIT:C9192] synonym: "ovarian malignant mixed Müllerian tumor" EXACT [NCIT:C9192] +synonym: "ovarian malignant mixed Müllerian tumour" EXACT OMO:0003005 [] synonym: "ovarian MMMT" EXACT [DOID:6170, NCIT:C9192] synonym: "ovary carcinosarcoma" EXACT [MONDO:patterns/location] xref: DOID:6170 {source="MONDO:equivalentTo"} @@ -61292,15 +63103,20 @@ def: "A malignant neoplasm involving the cornea." [https://orcid.org/0000-0002-6 synonym: "cancer of cornea" EXACT [MONDO:patterns/cancer] synonym: "cornea cancer" EXACT [MONDO:patterns/location] synonym: "corneal tumor" BROAD [DOID:6199, NCIT:C4361] +synonym: "corneal tumour" BROAD OMO:0003005 [] synonym: "malignant cornea neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3565] synonym: "malignant cornea tumor" EXACT [NCIT:C3565] +synonym: "malignant cornea tumour" EXACT OMO:0003005 [] synonym: "malignant corneal neoplasm" EXACT [NCIT:C3565] synonym: "malignant corneal tumor" EXACT [DOID:6199, NCIT:C3565] +synonym: "malignant corneal tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of cornea" EXACT [DOID:6199, MONDO:patterns/cancer, NCIT:C3565] synonym: "malignant neoplasm of cornea (primary)" EXACT [DOID:6199] synonym: "malignant neoplasm of the cornea" EXACT [NCIT:C3565] synonym: "malignant tumor of cornea" EXACT [NCIT:C3565] synonym: "malignant tumor of the cornea" EXACT [NCIT:C3565] +synonym: "malignant tumour of cornea" EXACT OMO:0003005 [] +synonym: "malignant tumour of the cornea" EXACT OMO:0003005 [] synonym: "neoplasm of cornea" BROAD EXCLUDE [DOID:6199] xref: DOID:6199 {source="MONDO:equivalentTo"} xref: ICD10CM:C69.1 {source="DOID:6199"} @@ -61394,9 +63210,11 @@ synonym: "HTAT" RELATED ABBREVIATION [ONCOTREE:HTAT] synonym: "hyalinizing trabecular adenoma of the thyroid" EXACT [NCIT:C6846] synonym: "hyalinizing trabecular adenoma of thyroid" EXACT [NCIT:C6846] synonym: "hyalinizing trabecular tumor" EXACT [NCIT:C6846] +synonym: "hyalinizing trabecular tumour" EXACT OMO:0003005 [] synonym: "paraganglioma-like adenoma" EXACT [NCIT:C6846] synonym: "PLAT" EXACT ABBREVIATION [DOID:6203, NCIT:C6846] synonym: "thyroid gland hyalinizing trabecular tumor" EXACT [NCIT:C6846] +synonym: "thyroid gland hyalinizing trabecular tumour" EXACT OMO:0003005 [] synonym: "thyroid hyalinizing trabecular adenoma" EXACT [NCIT:C6846] xref: DOID:6203 {source="MONDO:equivalentTo"} xref: EFO:1000588 {source="MONDO:equivalentTo"} @@ -61445,6 +63263,7 @@ synonym: "malignant hemangiopericytoma of the mediastinum" EXACT [NCIT:C6608] synonym: "malignant mediastinal hemangiopericytoma" EXACT [NCIT:C6608] synonym: "mediastinum hemangiopericytoma" EXACT [MONDO:patterns/location] synonym: "mediastinum spindle cell tumor" EXACT [MONDO:patterns/location] +synonym: "mediastinum spindle cell tumour" EXACT OMO:0003005 [] xref: DOID:6209 {source="MONDO:equivalentTo"} xref: NCIT:C6608 {source="MONDO:equivalentTo", source="DOID:6209"} xref: UMLS:C1334598 {source="NCIT:C6608", source="MONDO:equivalentTo", source="DOID:6209"} @@ -61472,9 +63291,13 @@ synonym: "mixed epithelial neoplasm of ovary" EXACT [NCIT:C4508] synonym: "mixed epithelial neoplasm of the ovary" EXACT [NCIT:C4508] synonym: "mixed epithelial tumor of ovary" EXACT [NCIT:C4508] synonym: "mixed epithelial tumor of the ovary" EXACT [NCIT:C4508] +synonym: "mixed epithelial tumour of ovary" EXACT OMO:0003005 [] +synonym: "mixed epithelial tumour of the ovary" EXACT OMO:0003005 [] synonym: "ovarian mixed epithelial neoplasm" EXACT [NCIT:C4508] synonym: "ovarian mixed epithelial tumor" EXACT [DOID:6211, NCIT:C4508] +synonym: "ovarian mixed epithelial tumour" EXACT OMO:0003005 [] synonym: "ovarian Seromucinous tumor" EXACT [NCIT:C4508] +synonym: "ovarian Seromucinous tumour" EXACT OMO:0003005 [] xref: DOID:6211 {source="MONDO:equivalentTo"} xref: EFO:1000425 {source="MONDO:equivalentTo"} xref: NCIT:C4508 {source="MONDO:equivalentTo", source="DOID:6211"} @@ -61490,9 +63313,12 @@ name: ovarian endometrial cancer def: "A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells." [NCIT:P378] synonym: "endometrioid neoplasm of ovary" EXACT [DOID:6212, NCIT:C6257] synonym: "endometrioid tumor of ovary" EXACT [MONDO:design_pattern] +synonym: "endometrioid tumour of ovary" EXACT OMO:0003005 [] synonym: "malignant ovarian endometrioid tumor" EXACT [DOID:6212, NCIT:C40051] +synonym: "malignant ovarian endometrioid tumour" EXACT OMO:0003005 [] synonym: "ovarian endometrioid neoplasm" EXACT [DOID:6212] synonym: "ovary endometrioid tumor" EXACT [MONDO:design_pattern, MONDO:patterns/location] +synonym: "ovary endometrioid tumour" EXACT OMO:0003005 [] synonym: "ovary female reproductive endometrioid cancer" EXACT [MONDO:patterns/location] xref: DOID:6212 {source="MONDO:equivalentTo"} xref: NCIT:C40051 {source="DOID:6212", source="MONDO:equivalentTo"} @@ -61509,13 +63335,15 @@ id: MONDO:0003813 name: ovarian papillary tumor def: "A benign, borderline, or malignant epithelial tumor that arises from the ovary and is characterized by the presence of papillary proliferations. Representative examples include surface papilloma, borderline serous surface papillary tumor, and serous surface papillary adenocarcinoma." [NCIT:C8430] synonym: "ovarian papillary neoplasm" EXACT [NCIT:C8430] -synonym: "ovarian papillary tumor" EXACT [DOID:6214] -synonym: "ovarian papillary tumor" EXACT [NCIT:C8430] +synonym: "ovarian papillary tumor" EXACT [DOID:6214, NCIT:C8430] synonym: "ovarian papillary tumor (morphologic abnormality)" EXACT [DOID:6214] +synonym: "ovarian papillary tumour (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "papillary neoplasm of ovary" EXACT [NCIT:C8430] synonym: "papillary neoplasm of the ovary" EXACT [NCIT:C8430] synonym: "papillary tumor of ovary" EXACT [DOID:6214, NCIT:C8430] synonym: "papillary tumor of the ovary" EXACT [NCIT:C8430] +synonym: "papillary tumour of ovary" EXACT OMO:0003005 [] +synonym: "papillary tumour of the ovary" EXACT OMO:0003005 [] xref: DOID:6214 {source="MONDO:equivalentTo"} xref: NCIT:C8430 {source="DOID:6214", source="MONDO:equivalentTo"} xref: SCTID:189683008 {source="DOID:6214"} @@ -61591,6 +63419,10 @@ synonym: "childhood mature ovarian teratoma" EXACT [MONDO:design_pattern] synonym: "childhood mature teratoma of ovary" EXACT [NCIT:C6548] synonym: "childhood ovarian mature teratoma" EXACT [NCIT:C6548] synonym: "mature ovarian teratoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] +synonym: "paediatric mature ovarian teratoma" EXACT OMO:0003005 [] +synonym: "paediatric mature teratoma of ovary" EXACT OMO:0003005 [] +synonym: "paediatric mature teratoma of the ovary" EXACT OMO:0003005 [] +synonym: "paediatric ovarian mature teratoma" EXACT OMO:0003005 [] synonym: "pediatric mature ovarian teratoma" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "pediatric mature teratoma of ovary" EXACT [DOID:6229, NCIT:C6548] synonym: "pediatric mature teratoma of the ovary" EXACT [NCIT:C6548] @@ -61611,6 +63443,9 @@ synonym: "childhood ovarian teratoma" EXACT [NCIT:C6554] synonym: "childhood teratoma of ovary" EXACT [NCIT:C6554] synonym: "childhood teratoma of the ovary" EXACT [NCIT:C6554] synonym: "ovarian teratoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] +synonym: "paediatric ovarian teratoma" EXACT OMO:0003005 [] +synonym: "paediatric teratoma of ovary" EXACT OMO:0003005 [] +synonym: "paediatric teratoma of the ovary" EXACT OMO:0003005 [] synonym: "pediatric ovarian teratoma" EXACT [MONDO:patterns/childhood, NCIT:C6554] synonym: "pediatric teratoma of ovary" EXACT [DOID:6230, NCIT:C6554] synonym: "pediatric teratoma of the ovary" EXACT [NCIT:C6554] @@ -61699,6 +63534,7 @@ synonym: "oncocytoma of the kidney" EXACT [NCIT:C4526] synonym: "oncocytoma renal" RELATED [GARD:0008477] synonym: "renal epithelial oncocytic neoplasm" EXACT [NCIT:C4526] synonym: "renal epithelial oncocytic tumor" EXACT [DOID:6245, NCIT:C4526] +synonym: "renal epithelial oncocytic tumour" EXACT OMO:0003005 [] synonym: "renal oncocytoma" EXACT [NCIT:C4526] synonym: "ROCY" RELATED ABBREVIATION [ONCOTREE:ROCY] xref: DOID:6245 {source="MONDO:equivalentTo"} @@ -61755,25 +63591,38 @@ synonym: "malignant Growth hormone producing neoplasm of the pituitary" EXACT [N synonym: "malignant Growth hormone producing neoplasm of the pituitary gland" EXACT [NCIT:C5963] synonym: "malignant Growth hormone producing pituitary gland neoplasm" EXACT [NCIT:C5963] synonym: "malignant Growth hormone producing pituitary gland tumor" EXACT [NCIT:C5963] +synonym: "malignant Growth hormone producing pituitary gland tumour" EXACT OMO:0003005 [] synonym: "malignant Growth hormone producing pituitary neoplasm" EXACT [NCIT:C5963] synonym: "malignant Growth hormone producing pituitary tumor" EXACT [NCIT:C5963] +synonym: "malignant Growth hormone producing pituitary tumour" EXACT OMO:0003005 [] synonym: "malignant Growth hormone producing tumor" EXACT [NCIT:C5963] synonym: "malignant Growth hormone producing tumor of pituitary" EXACT [NCIT:C5963] synonym: "malignant Growth hormone producing tumor of pituitary gland" EXACT [NCIT:C5963] synonym: "malignant Growth hormone producing tumor of the pituitary" EXACT [NCIT:C5963] synonym: "malignant Growth hormone producing tumor of the pituitary gland" EXACT [NCIT:C5963] +synonym: "malignant Growth hormone producing tumour" EXACT OMO:0003005 [] +synonym: "malignant Growth hormone producing tumour of pituitary" EXACT OMO:0003005 [] +synonym: "malignant Growth hormone producing tumour of pituitary gland" EXACT OMO:0003005 [] +synonym: "malignant Growth hormone producing tumour of the pituitary" EXACT OMO:0003005 [] +synonym: "malignant Growth hormone producing tumour of the pituitary gland" EXACT OMO:0003005 [] synonym: "malignant Growth hormone secreting neoplasm of pituitary" EXACT [NCIT:C5963] synonym: "malignant Growth hormone secreting neoplasm of pituitary gland" EXACT [NCIT:C5963] synonym: "malignant Growth hormone secreting neoplasm of the pituitary" EXACT [NCIT:C5963] synonym: "malignant Growth hormone secreting neoplasm of the pituitary gland" EXACT [NCIT:C5963] synonym: "malignant Growth hormone secreting pituitary gland neoplasm" EXACT [NCIT:C5963] synonym: "malignant Growth hormone secreting pituitary gland tumor" EXACT [NCIT:C5963] +synonym: "malignant Growth hormone secreting pituitary gland tumour" EXACT OMO:0003005 [] synonym: "malignant Growth hormone secreting pituitary neoplasm" EXACT [NCIT:C5963] synonym: "malignant Growth hormone secreting pituitary tumor" EXACT [NCIT:C5963] +synonym: "malignant Growth hormone secreting pituitary tumour" EXACT OMO:0003005 [] synonym: "malignant Growth hormone secreting tumor of pituitary" EXACT [NCIT:C5963] synonym: "malignant Growth hormone secreting tumor of pituitary gland" EXACT [NCIT:C5963] synonym: "malignant Growth hormone secreting tumor of the pituitary" EXACT [NCIT:C5963] synonym: "malignant Growth hormone secreting tumor of the pituitary gland" EXACT [NCIT:C5963] +synonym: "malignant Growth hormone secreting tumour of pituitary" EXACT OMO:0003005 [] +synonym: "malignant Growth hormone secreting tumour of pituitary gland" EXACT OMO:0003005 [] +synonym: "malignant Growth hormone secreting tumour of the pituitary" EXACT OMO:0003005 [] +synonym: "malignant Growth hormone secreting tumour of the pituitary gland" EXACT OMO:0003005 [] synonym: "malignant pituitary gland Somatotrophinoma" EXACT [NCIT:C5963] synonym: "malignant pituitary gland somatotropinoma" EXACT [NCIT:C5963] synonym: "malignant pituitary Somatotrophinoma" EXACT [NCIT:C5963] @@ -61914,25 +63763,38 @@ synonym: "malignant thyroid stimulating hormone producing neoplasm of the pituit synonym: "malignant thyroid stimulating hormone producing neoplasm of the pituitary gland" EXACT [NCIT:C5965] synonym: "malignant thyroid stimulating hormone producing pituitary gland neoplasm" EXACT [NCIT:C5965] synonym: "malignant thyroid stimulating hormone producing pituitary gland tumor" EXACT [NCIT:C5965] +synonym: "malignant thyroid stimulating hormone producing pituitary gland tumour" EXACT OMO:0003005 [] synonym: "malignant thyroid stimulating hormone producing pituitary neoplasm" EXACT [NCIT:C5965] synonym: "malignant thyroid stimulating hormone producing pituitary tumor" EXACT [NCIT:C5965] +synonym: "malignant thyroid stimulating hormone producing pituitary tumour" EXACT OMO:0003005 [] synonym: "malignant thyroid stimulating hormone producing tumor" EXACT [NCIT:C5965] synonym: "malignant thyroid stimulating hormone producing tumor of pituitary" EXACT [NCIT:C5965] synonym: "malignant thyroid stimulating hormone producing tumor of pituitary gland" EXACT [NCIT:C5965] synonym: "malignant thyroid stimulating hormone producing tumor of the pituitary" EXACT [NCIT:C5965] synonym: "malignant thyroid stimulating hormone producing tumor of the pituitary gland" EXACT [NCIT:C5965] +synonym: "malignant thyroid stimulating hormone producing tumour" EXACT OMO:0003005 [] +synonym: "malignant thyroid stimulating hormone producing tumour of pituitary" EXACT OMO:0003005 [] +synonym: "malignant thyroid stimulating hormone producing tumour of pituitary gland" EXACT OMO:0003005 [] +synonym: "malignant thyroid stimulating hormone producing tumour of the pituitary" EXACT OMO:0003005 [] +synonym: "malignant thyroid stimulating hormone producing tumour of the pituitary gland" EXACT OMO:0003005 [] synonym: "malignant thyroid stimulating hormone secreting neoplasm of pituitary" EXACT [NCIT:C5965] synonym: "malignant thyroid stimulating hormone secreting neoplasm of pituitary gland" EXACT [NCIT:C5965] synonym: "malignant thyroid stimulating hormone secreting neoplasm of the pituitary" EXACT [NCIT:C5965] synonym: "malignant thyroid stimulating hormone secreting neoplasm of the pituitary gland" EXACT [NCIT:C5965] synonym: "malignant thyroid stimulating hormone secreting pituitary gland neoplasm" EXACT [NCIT:C5965] synonym: "malignant thyroid stimulating hormone secreting pituitary gland tumor" EXACT [NCIT:C5965] +synonym: "malignant thyroid stimulating hormone secreting pituitary gland tumour" EXACT OMO:0003005 [] synonym: "malignant thyroid stimulating hormone secreting pituitary neoplasm" EXACT [NCIT:C5965] synonym: "malignant thyroid stimulating hormone secreting pituitary tumor" EXACT [NCIT:C5965] +synonym: "malignant thyroid stimulating hormone secreting pituitary tumour" EXACT OMO:0003005 [] synonym: "malignant thyroid stimulating hormone secreting tumor of pituitary" EXACT [NCIT:C5965] synonym: "malignant thyroid stimulating hormone secreting tumor of pituitary gland" EXACT [NCIT:C5965] synonym: "malignant thyroid stimulating hormone secreting tumor of the pituitary" EXACT [NCIT:C5965] synonym: "malignant thyroid stimulating hormone secreting tumor of the pituitary gland" EXACT [NCIT:C5965] +synonym: "malignant thyroid stimulating hormone secreting tumour of pituitary" EXACT OMO:0003005 [] +synonym: "malignant thyroid stimulating hormone secreting tumour of pituitary gland" EXACT OMO:0003005 [] +synonym: "malignant thyroid stimulating hormone secreting tumour of the pituitary" EXACT OMO:0003005 [] +synonym: "malignant thyroid stimulating hormone secreting tumour of the pituitary gland" EXACT OMO:0003005 [] synonym: "malignant thyrotropinoma" EXACT [DOID:6274, NCIT:C5965] synonym: "malignant thyrotropinoma of pituitary" EXACT [NCIT:C5965] synonym: "malignant thyrotropinoma of pituitary gland" EXACT [NCIT:C5965] @@ -61944,24 +63806,36 @@ synonym: "malignant TSH producing neoplasm of the pituitary" EXACT [NCIT:C5965] synonym: "malignant TSH producing neoplasm of the pituitary gland" EXACT [NCIT:C5965] synonym: "malignant TSH producing pituitary gland neoplasm" EXACT [NCIT:C5965] synonym: "malignant TSH producing pituitary gland tumor" EXACT [NCIT:C5965] +synonym: "malignant TSH producing pituitary gland tumour" EXACT OMO:0003005 [] synonym: "malignant TSH producing pituitary neoplasm" EXACT [NCIT:C5965] synonym: "malignant TSH producing pituitary tumor" EXACT [NCIT:C5965] +synonym: "malignant TSH producing pituitary tumour" EXACT OMO:0003005 [] synonym: "malignant TSH producing tumor of pituitary" EXACT [NCIT:C5965] synonym: "malignant TSH producing tumor of pituitary gland" EXACT [NCIT:C5965] synonym: "malignant TSH producing tumor of the pituitary" EXACT [NCIT:C5965] synonym: "malignant TSH producing tumor of the pituitary gland" EXACT [NCIT:C5965] +synonym: "malignant TSH producing tumour of pituitary" EXACT OMO:0003005 [] +synonym: "malignant TSH producing tumour of pituitary gland" EXACT OMO:0003005 [] +synonym: "malignant TSH producing tumour of the pituitary" EXACT OMO:0003005 [] +synonym: "malignant TSH producing tumour of the pituitary gland" EXACT OMO:0003005 [] synonym: "malignant TSH secreting neoplasm of pituitary" EXACT [NCIT:C5965] synonym: "malignant TSH secreting neoplasm of pituitary gland" EXACT [NCIT:C5965] synonym: "malignant TSH secreting neoplasm of the pituitary" EXACT [NCIT:C5965] synonym: "malignant TSH secreting neoplasm of the pituitary gland" EXACT [NCIT:C5965] synonym: "malignant TSH secreting pituitary gland neoplasm" EXACT [NCIT:C5965] synonym: "malignant TSH secreting pituitary gland tumor" EXACT [NCIT:C5965] +synonym: "malignant TSH secreting pituitary gland tumour" EXACT OMO:0003005 [] synonym: "malignant TSH secreting pituitary neoplasm" EXACT [NCIT:C5965] synonym: "malignant TSH secreting pituitary tumor" EXACT [NCIT:C5965] +synonym: "malignant TSH secreting pituitary tumour" EXACT OMO:0003005 [] synonym: "malignant TSH secreting tumor of pituitary" EXACT [NCIT:C5965] synonym: "malignant TSH secreting tumor of pituitary gland" EXACT [NCIT:C5965] synonym: "malignant TSH secreting tumor of the pituitary" EXACT [NCIT:C5965] synonym: "malignant TSH secreting tumor of the pituitary gland" EXACT [NCIT:C5965] +synonym: "malignant TSH secreting tumour of pituitary" EXACT OMO:0003005 [] +synonym: "malignant TSH secreting tumour of pituitary gland" EXACT OMO:0003005 [] +synonym: "malignant TSH secreting tumour of the pituitary" EXACT OMO:0003005 [] +synonym: "malignant TSH secreting tumour of the pituitary gland" EXACT OMO:0003005 [] synonym: "thyrotropin producing pituitary gland carcinoma" EXACT [NCIT:C5965] synonym: "TSH producing pituitary gland carcinoma" EXACT [NCIT:C5965] synonym: "TSH-producing pituitary gland carcinoma" EXACT [NCIT:C5965] @@ -61981,25 +63855,38 @@ synonym: "thyroid stimulating hormone producing neoplasm of the pituitary" EXACT synonym: "thyroid stimulating hormone producing neoplasm of the pituitary gland" EXACT [NCIT:C7915] synonym: "thyroid stimulating hormone producing pituitary gland neoplasm" EXACT [NCIT:C7915] synonym: "thyroid stimulating hormone producing pituitary gland tumor" EXACT [NCIT:C7915] +synonym: "thyroid stimulating hormone producing pituitary gland tumour" EXACT OMO:0003005 [] synonym: "thyroid stimulating hormone producing pituitary neoplasm" EXACT [NCIT:C7915] synonym: "thyroid stimulating hormone producing pituitary tumor" EXACT [NCIT:C7915] +synonym: "thyroid stimulating hormone producing pituitary tumour" EXACT OMO:0003005 [] synonym: "thyroid stimulating hormone producing tumor" EXACT [NCIT:C7915] synonym: "thyroid stimulating hormone producing tumor of pituitary" EXACT [NCIT:C7915] synonym: "thyroid stimulating hormone producing tumor of pituitary gland" EXACT [NCIT:C7915] synonym: "thyroid stimulating hormone producing tumor of the pituitary" EXACT [NCIT:C7915] synonym: "thyroid stimulating hormone producing tumor of the pituitary gland" EXACT [NCIT:C7915] +synonym: "thyroid stimulating hormone producing tumour" EXACT OMO:0003005 [] +synonym: "thyroid stimulating hormone producing tumour of pituitary" EXACT OMO:0003005 [] +synonym: "thyroid stimulating hormone producing tumour of pituitary gland" EXACT OMO:0003005 [] +synonym: "thyroid stimulating hormone producing tumour of the pituitary" EXACT OMO:0003005 [] +synonym: "thyroid stimulating hormone producing tumour of the pituitary gland" EXACT OMO:0003005 [] synonym: "thyroid stimulating hormone secreting neoplasm of pituitary" EXACT [NCIT:C7915] synonym: "thyroid stimulating hormone secreting neoplasm of pituitary gland" EXACT [NCIT:C7915] synonym: "thyroid stimulating hormone secreting neoplasm of the pituitary" EXACT [NCIT:C7915] synonym: "thyroid stimulating hormone secreting neoplasm of the pituitary gland" EXACT [NCIT:C7915] synonym: "thyroid stimulating hormone secreting pituitary gland neoplasm" EXACT [NCIT:C7915] synonym: "thyroid stimulating hormone secreting pituitary gland tumor" EXACT [NCIT:C7915] +synonym: "thyroid stimulating hormone secreting pituitary gland tumour" EXACT OMO:0003005 [] synonym: "thyroid stimulating hormone secreting pituitary neoplasm" EXACT [NCIT:C7915] synonym: "thyroid stimulating hormone secreting pituitary tumor" EXACT [NCIT:C7915] +synonym: "thyroid stimulating hormone secreting pituitary tumour" EXACT OMO:0003005 [] synonym: "thyroid stimulating hormone secreting tumor of pituitary" EXACT [NCIT:C7915] synonym: "thyroid stimulating hormone secreting tumor of pituitary gland" EXACT [NCIT:C7915] synonym: "thyroid stimulating hormone secreting tumor of the pituitary" EXACT [NCIT:C7915] synonym: "thyroid stimulating hormone secreting tumor of the pituitary gland" EXACT [NCIT:C7915] +synonym: "thyroid stimulating hormone secreting tumour of pituitary" EXACT OMO:0003005 [] +synonym: "thyroid stimulating hormone secreting tumour of pituitary gland" EXACT OMO:0003005 [] +synonym: "thyroid stimulating hormone secreting tumour of the pituitary" EXACT OMO:0003005 [] +synonym: "thyroid stimulating hormone secreting tumour of the pituitary gland" EXACT OMO:0003005 [] synonym: "thyrotroph adenoma" NARROW [] synonym: "thyrotropin producing pituitary gland neoplasm" EXACT [NCIT:C7915] synonym: "thyrotropin-secreting pituitary adenoma" RELATED [] @@ -62009,12 +63896,17 @@ synonym: "TSH producing neoplasm of the pituitary" EXACT [NCIT:C7915] synonym: "TSH producing neoplasm of the pituitary gland" EXACT [NCIT:C7915] synonym: "TSH producing pituitary gland neoplasm" EXACT [NCIT:C7915] synonym: "TSH producing pituitary gland tumor" EXACT [NCIT:C7915] +synonym: "TSH producing pituitary gland tumour" EXACT OMO:0003005 [] synonym: "TSH producing pituitary neoplasm" EXACT [NCIT:C7915] synonym: "TSH producing pituitary tumor" EXACT [NCIT:C7915] synonym: "TSH producing tumor of pituitary" EXACT [NCIT:C7915] synonym: "TSH producing tumor of pituitary gland" EXACT [NCIT:C7915] synonym: "TSH producing tumor of the pituitary" EXACT [NCIT:C7915] synonym: "TSH producing tumor of the pituitary gland" EXACT [NCIT:C7915] +synonym: "TSH producing tumour of pituitary" EXACT OMO:0003005 [] +synonym: "TSH producing tumour of pituitary gland" EXACT OMO:0003005 [] +synonym: "TSH producing tumour of the pituitary" EXACT OMO:0003005 [] +synonym: "TSH producing tumour of the pituitary gland" EXACT OMO:0003005 [] synonym: "TSH secreting adenoma of the pituitary" NARROW [DOID:6275, NCIT:C8011] synonym: "TSH secreting neoplasm of pituitary" EXACT [NCIT:C7915] synonym: "TSH secreting neoplasm of pituitary gland" EXACT [NCIT:C7915] @@ -62022,15 +63914,22 @@ synonym: "TSH secreting neoplasm of the pituitary" EXACT [NCIT:C7915] synonym: "TSH secreting neoplasm of the pituitary gland" EXACT [NCIT:C7915] synonym: "TSH secreting pituitary gland neoplasm" EXACT [NCIT:C7915] synonym: "TSH secreting pituitary gland tumor" EXACT [NCIT:C7915] +synonym: "TSH secreting pituitary gland tumour" EXACT OMO:0003005 [] synonym: "TSH secreting pituitary neoplasm" EXACT [NCIT:C7915] synonym: "TSH secreting pituitary tumor" EXACT [NCIT:C7915] +synonym: "TSH secreting pituitary tumour" EXACT OMO:0003005 [] synonym: "TSH secreting tumor of pituitary" EXACT [DOID:6275, NCIT:C7915] synonym: "TSH secreting tumor of pituitary gland" EXACT [NCIT:C7915] synonym: "TSH secreting tumor of the pituitary" EXACT [NCIT:C7915] synonym: "TSH secreting tumor of the pituitary gland" EXACT [NCIT:C7915] +synonym: "TSH secreting tumour of pituitary" EXACT OMO:0003005 [] +synonym: "TSH secreting tumour of pituitary gland" EXACT OMO:0003005 [] +synonym: "TSH secreting tumour of the pituitary" EXACT OMO:0003005 [] +synonym: "TSH secreting tumour of the pituitary gland" EXACT OMO:0003005 [] synonym: "TSH-oma" RELATED [] synonym: "TSH-producing pituitary gland neoplasm" EXACT [NCIT:C7915] synonym: "TSH-producing pituitary gland tumor" EXACT [NCIT:C7915] +synonym: "TSH-producing pituitary gland tumour" EXACT OMO:0003005 [] xref: DOID:6275 {source="MONDO:equivalentTo"} xref: NCIT:C7915 {source="MONDO:equivalentTo"} xref: NCIT:C8011 {source="DOID:6275"} @@ -62103,11 +64002,16 @@ def: "Benign and malignant astrocytomas that arise from astrocytes in the cerebe synonym: "cerebellar astrocytoma" BROAD [NCIT:C6286] synonym: "cerebellar astrocytoma, childhood" RELATED [GARD:0009301] synonym: "cerebellum childhood astrocytic tumor" EXACT [MONDO:design_pattern, MONDO:patterns/location] +synonym: "cerebellum childhood astrocytic tumour" EXACT OMO:0003005 [] synonym: "cerebellum juvenile astrocytoma" EXACT [MONDO:patterns/location] synonym: "childhood astrocytic tumor of cerebellum" EXACT [MONDO:design_pattern] +synonym: "childhood astrocytic tumour of cerebellum" EXACT OMO:0003005 [] synonym: "childhood astrocytoma of cerebellum" EXACT [NCIT:C6286] synonym: "childhood astrocytoma of the cerebellum" EXACT [NCIT:C6286] synonym: "childhood cerebellar astrocytoma" EXACT [NCIT:C6286] +synonym: "paediatric astrocytoma of cerebellum" EXACT OMO:0003005 [] +synonym: "paediatric astrocytoma of the cerebellum" EXACT OMO:0003005 [] +synonym: "paediatric cerebellar astrocytoma" EXACT OMO:0003005 [] synonym: "pediatric astrocytoma of cerebellum" EXACT [DOID:6286, NCIT:C6286] synonym: "pediatric astrocytoma of the cerebellum" EXACT [NCIT:C6286] synonym: "pediatric cerebellar astrocytoma" EXACT [NCIT:C6286] @@ -62407,6 +64311,7 @@ id: MONDO:0003862 name: melanotic psammomatous malignant peripheral nerve sheath tumor def: "A malignant peripheral nerve sheath tumor characterized by the presence of malignant cells that contain melanin and formation of psammoma bodies." [NCIT:P378] synonym: "melanocytic psammomatous malignant peripheral nerve sheath tumor" EXACT [NCIT:C6910] +synonym: "melanocytic psammomatous malignant peripheral nerve sheath tumour" EXACT OMO:0003005 [] synonym: "melanocytic psammomatous MPNST" EXACT [NCIT:C6910] synonym: "melanotic psammomatous malignant peripheral nerve sheath tumor" EXACT [NCIT:C6910] xref: DOID:6344 {source="MONDO:equivalentTo"} @@ -62421,11 +64326,16 @@ def: "A rare variant of malignant peripheral nerve sheath tumor. It is character synonym: "malignant melanocytic neoplasm of peripheral nerve sheath" EXACT [NCIT:C4748] synonym: "malignant melanocytic neoplasm of the peripheral nerve sheath" EXACT [NCIT:C4748] synonym: "malignant melanocytic peripheral nerve sheath tumor" EXACT [NCIT:C4748] +synonym: "malignant melanocytic peripheral nerve sheath tumour" EXACT OMO:0003005 [] synonym: "malignant melanotic peripheral nerve sheath tumor" EXACT [NCIT:C4748] +synonym: "malignant melanotic peripheral nerve sheath tumour" EXACT OMO:0003005 [] synonym: "melanocytic MPNST" EXACT [DOID:6345, NCIT:C4748] synonym: "melanotic malignant nerve sheath tumor" EXACT [DOID:6345] +synonym: "melanotic malignant nerve sheath tumour" EXACT OMO:0003005 [] synonym: "melanotic malignant peripheral nerve sheath tumor" EXACT [DOID:6345] synonym: "melanotic malignant peripheral nerve sheath tumor (morphologic abnormality)" EXACT [DOID:6345] +synonym: "melanotic malignant peripheral nerve sheath tumour" EXACT OMO:0003005 [] +synonym: "melanotic malignant peripheral nerve sheath tumour (morphologic abnormality)" EXACT OMO:0003005 [] xref: DOID:6345 {source="MONDO:equivalentTo"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C4748 {source="DOID:6345", source="MONDO:equivalentTo"} @@ -62541,6 +64451,12 @@ synonym: "childhood glioma of brain stem" EXACT [NCIT:C9042] synonym: "childhood glioma of brainstem" EXACT [NCIT:C9042] synonym: "childhood glioma of the brain stem" EXACT [NCIT:C9042] synonym: "childhood glioma of the brainstem" EXACT [NCIT:C9042] +synonym: "paediatric brain stem glioma" EXACT OMO:0003005 [] +synonym: "paediatric brainstem glioma" EXACT OMO:0003005 [] +synonym: "paediatric glioma of brain stem" EXACT OMO:0003005 [] +synonym: "paediatric glioma of brainstem" EXACT OMO:0003005 [] +synonym: "paediatric glioma of the brain stem" EXACT OMO:0003005 [] +synonym: "paediatric glioma of the brainstem" EXACT OMO:0003005 [] synonym: "pediatric brain stem glioma" EXACT [MONDO:patterns/childhood, NCIT:C9042] synonym: "pediatric brainstem glioma" EXACT [NCIT:C9042] synonym: "pediatric glioma of brain stem" EXACT [NCIT:C9042] @@ -62564,6 +64480,7 @@ synonym: "brain stem astrocytic neoplasm of childhood" EXACT [MONDO:design_patte synonym: "childhood brain stem astrocytic neoplasm" EXACT [MONDO:design_pattern] synonym: "childhood brain stem astrocytoma" EXACT [NCIT:C6216] synonym: "childhood brainstem astrocytoma" EXACT [NCIT:C6216] +synonym: "paediatric brain stem astrocytic neoplasm" EXACT OMO:0003005 [] synonym: "pediatric brain stem astrocytic neoplasm" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] xref: DOID:6386 {source="MONDO:equivalentTo"} xref: NCIT:C6216 {source="MONDO:equivalentTo", source="DOID:6386"} @@ -62625,6 +64542,7 @@ name: childhood central nervous system mature teratoma def: "A mature teratoma that arises from the central nervous system during childhood." [NCIT:C27404] synonym: "central nervous system mature teratoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "childhood central nervous system mature teratoma" EXACT [NCIT:C27404] +synonym: "paediatric central nervous system mature teratoma" EXACT OMO:0003005 [] synonym: "pediatric central nervous system mature teratoma" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] xref: DOID:6423 {source="MONDO:equivalentTo"} xref: NCIT:C27404 {source="DOID:6423", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -62822,6 +64740,7 @@ synonym: "childhood teratocarcinoma of testis" RELATED [NCIT:C6539] synonym: "childhood teratocarcinoma of the testis" RELATED [NCIT:C6539] synonym: "childhood testicular mixed embryonal carcinoma and teratoma" EXACT [NCIT:C6539] synonym: "childhood testicular teratocarcinoma" RELATED [NCIT:C6539] +synonym: "paediatric testicular teratocarcinoma" EXACT OMO:0003005 [] synonym: "pediatric testicular teratocarcinoma" EXACT [DOID:6474, NCIT:C6539] xref: DOID:6474 {source="MONDO:equivalentTo"} xref: NCIT:C6539 {source="MONDO:equivalentTo", source="DOID:6474"} @@ -63108,6 +65027,7 @@ id: MONDO:0003905 name: ovarian yolk sac tumor, glandular pattern def: "A yolk sac tumor that arises from the ovary and is characterized by the presence of extensive differentiation into endodermal type glandular structures." [NCIT:C39988] synonym: "glandular pattern ovarian yolk sac tumor" RELATED [DOID:6511] +synonym: "glandular pattern ovarian yolk sac tumour" RELATED OMO:0003005 [] synonym: "ovarian yolk Sac tumor, glandular pattern" EXACT [NCIT:C39988] xref: DOID:6511 {source="MONDO:equivalentTo"} xref: NCIT:C39988 {source="DOID:6511", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -63119,6 +65039,7 @@ id: MONDO:0003906 name: ovarian yolk sac tumor, hepatoid pattern def: "A yolk sac tumor that arises from the ovary and is characterized by the presence of extensive differentiation into hepatic tissue." [NCIT:C39989] synonym: "hepatoid pattern ovarian yolk sac tumor" RELATED [DOID:6512] +synonym: "hepatoid pattern ovarian yolk sac tumour" RELATED OMO:0003005 [] synonym: "ovarian yolk Sac tumor, hepatoid pattern" EXACT [NCIT:C39989] xref: DOID:6512 {source="MONDO:equivalentTo"} xref: NCIT:C39989 {source="DOID:6512", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -63131,6 +65052,7 @@ name: ovarian yolk sac tumor, polyvesicular vitelline pattern def: "A yolk sac tumor that arises from the ovary and is characterized by the presence of multiple dilated spaces lined by cells that resemble mesothelial cells. The dilated spaces coexist with columnar epithelial tissues." [NCIT:C39987] synonym: "ovarian yolk sac tumor, polyvesicular vitelline pattern" EXACT [NCIT:C39987] synonym: "polyvesicular vitelline pattern ovarian yolk sac tumor" RELATED [DOID:6514] +synonym: "polyvesicular vitelline pattern ovarian yolk sac tumour" RELATED OMO:0003005 [] xref: DOID:6514 {source="MONDO:equivalentTo"} xref: NCIT:C39987 {source="DOID:6514", source="MONDO:equivalentTo", source="NCIT:C39987"} xref: UMLS:C1518749 {source="DOID:6514", source="MONDO:equivalentTo", source="NCIT:C39987"} @@ -63490,6 +65412,8 @@ def: "An astrocytoma that arises from the visual pathway and occurs during child synonym: "childhood optic tract astrocytoma" EXACT [NCIT:C7534] synonym: "childhood visual pathway astrocytoma" EXACT [NCIT:C7534] synonym: "optic tract astrocytoma of childhood" EXACT [MONDO:patterns/childhood] +synonym: "paediatric optic tract astrocytoma" EXACT OMO:0003005 [] +synonym: "paediatric visual pathway astrocytoma" EXACT OMO:0003005 [] synonym: "pediatric optic tract astrocytoma" EXACT [MONDO:patterns/childhood, NCIT:C7534] synonym: "pediatric visual pathway astrocytoma" EXACT [DOID:6575, NCIT:C7534] xref: DOID:6575 {source="MONDO:equivalentTo"} @@ -63507,10 +65431,15 @@ def: "A glioma affecting the optic tract and occurring in childhood." [NCIT:C753 synonym: "childhood optic tract glioma" EXACT [NCIT:C7535] synonym: "childhood visual pathway glioma" EXACT [NCIT:C7535] synonym: "glioma of childhood visual pathway" EXACT [NCIT:C7535] +synonym: "glioma of paediatric visual pathway" EXACT OMO:0003005 [] synonym: "glioma of pediatric visual pathway" EXACT [NCIT:C7535] synonym: "glioma of the childhood visual pathway" EXACT [NCIT:C7535] +synonym: "glioma of the paediatric visual pathway" EXACT OMO:0003005 [] synonym: "glioma of the pediatric visual pathway" EXACT [DOID:6576, NCIT:C7535] synonym: "optic nerve glioma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] +synonym: "paediatric optic nerve glioma" EXACT OMO:0003005 [] +synonym: "paediatric optic tract glioma" EXACT OMO:0003005 [] +synonym: "paediatric visual pathway glioma" EXACT OMO:0003005 [] synonym: "pediatric optic nerve glioma" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "pediatric optic tract glioma" EXACT [NCIT:C7535] synonym: "pediatric visual pathway glioma" EXACT [NCIT:C7535] @@ -63535,8 +65464,11 @@ synonym: "malignant bone neoplasm of chest wall" RELATED [DOID:6579] synonym: "malignant bone neoplasm of the chest wall" EXACT [NCIT:C6724] synonym: "malignant bone tumor of chest wall" EXACT [NCIT:C6724] synonym: "malignant bone tumor of the chest wall" EXACT [DOID:6579, NCIT:C6724] +synonym: "malignant bone tumour of chest wall" EXACT OMO:0003005 [] +synonym: "malignant bone tumour of the chest wall" EXACT OMO:0003005 [] synonym: "malignant chest wall bone neoplasm" EXACT [NCIT:C6724] synonym: "malignant chest wall bone tumor" EXACT [NCIT:C6724] +synonym: "malignant chest wall bone tumour" EXACT OMO:0003005 [] xref: DOID:6579 {source="MONDO:equivalentTo"} xref: NCIT:C6724 {source="DOID:6579", source="MONDO:equivalentTo"} xref: UMLS:C1334572 {source="DOID:6579", source="MONDO:equivalentTo", source="NCIT:C6724"} @@ -63895,13 +65827,19 @@ synonym: "childhood choriocarcinoma of the central nervous system" EXACT [MONDO: synonym: "childhood CNS choriocarcinoma" EXACT [NCIT:C6206] synonym: "choriocarcinoma of childhood central nervous system" EXACT [NCIT:C6206] synonym: "choriocarcinoma of childhood CNS" EXACT [NCIT:C6206] +synonym: "choriocarcinoma of paediatric central nervous system" EXACT OMO:0003005 [] +synonym: "choriocarcinoma of paediatric CNS" EXACT OMO:0003005 [] synonym: "choriocarcinoma of pediatric central nervous system" EXACT [NCIT:C6206] synonym: "choriocarcinoma of pediatric CNS" EXACT [NCIT:C6206] synonym: "choriocarcinoma of the central nervous system of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "choriocarcinoma of the childhood central nervous system" EXACT [NCIT:C6206] synonym: "choriocarcinoma of the childhood CNS" EXACT [NCIT:C6206] +synonym: "choriocarcinoma of the paediatric central nervous system" EXACT OMO:0003005 [] +synonym: "choriocarcinoma of the paediatric CNS" EXACT OMO:0003005 [] synonym: "choriocarcinoma of the pediatric central nervous system" EXACT [DOID:6639, NCIT:C6206] synonym: "choriocarcinoma of the pediatric CNS" EXACT [NCIT:C6206] +synonym: "paediatric central nervous system choriocarcinoma" EXACT OMO:0003005 [] +synonym: "paediatric choriocarcinoma of the central nervous system" EXACT OMO:0003005 [] synonym: "pediatric central nervous system choriocarcinoma" EXACT [NCIT:C6206] synonym: "pediatric choriocarcinoma of the central nervous system" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] xref: DOID:6639 {source="MONDO:equivalentTo"} @@ -63982,6 +65920,7 @@ name: childhood central nervous system immature teratoma def: "An immature teratoma that arises from the central nervous system and occurs during childhood." [NCIT:C27405] synonym: "central nervous system immature teratoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "childhood central nervous system immature teratoma" EXACT [NCIT:C27405] +synonym: "paediatric central nervous system immature teratoma" EXACT OMO:0003005 [] synonym: "pediatric central nervous system immature teratoma" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] xref: DOID:6654 {source="MONDO:equivalentTo"} xref: NCIT:C27405 {source="DOID:6654", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -64391,6 +66330,7 @@ synonym: "lymphoma of chest wall" EXACT [DOID:6758] synonym: "lymphoma of the chest wall" EXACT [DOID:6758, NCIT:C6712] synonym: "malignant neoplasm of chest wall" RELATED EXCLUDE [DOID:6758] synonym: "malignant tumor of chest wall" RELATED EXCLUDE [DOID:6758] +synonym: "malignant tumour of chest wall" RELATED OMO:0003005 [] synonym: "primary chest wall lymphoma" EXACT [NCIT:C6712] xref: DOID:6758 {source="MONDO:equivalentTo"} xref: NCIT:C4580 {source="DOID:6758"} @@ -64500,6 +66440,7 @@ synonym: "botryoid rhabdomyosarcoma of childhood" EXACT [MONDO:design_pattern, M synonym: "botryoid-type embryonal rhabdomyosarcoma" BROAD [NCIT:C35574] synonym: "childhood botryoid-type embryonal rhabdomyosarcoma" EXACT [NCIT:C35574] synonym: "childhood sarcoma Botryoides" EXACT [DOID:6786, NCIT:C35574] +synonym: "paediatric botryoid rhabdomyosarcoma" EXACT OMO:0003005 [] synonym: "pediatric botryoid rhabdomyosarcoma" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] xref: DOID:6786 {source="MONDO:equivalentTo"} xref: NCIT:C35574 {source="DOID:6786", source="MONDO:equivalentTo"} @@ -64516,6 +66457,7 @@ def: "A morphologic variant of embryonal rhabdomyosarcoma occurring in female ch synonym: "botryoid-type embryonal rhabdomyosarcoma of the vagina of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "childhood botryoid-type embryonal rhabdomyosarcoma of the vagina" EXACT [NCIT:C35556] synonym: "childhood sarcoma Botryoides of the vagina" EXACT [NCIT:C35556] +synonym: "paediatric botryoid-type embryonal rhabdomyosarcoma of the vagina" EXACT OMO:0003005 [] synonym: "pediatric botryoid-type embryonal rhabdomyosarcoma of the vagina" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "vaginal childhood botryoid-type embryonal rhabdomyosarcoma" EXACT [NCIT:C35556] synonym: "vaginal childhood sarcoma Botryoides" EXACT [DOID:6787, NCIT:C35556] @@ -64631,6 +66573,7 @@ id: MONDO:0004000 name: childhood pilocytic astrocytoma def: "A pilocytic astrocytoma that occurs during childhood." [NCIT:C4048] synonym: "childhood pilocytic astrocytoma" EXACT [NCIT:C4048] +synonym: "paediatric pilocytic astrocytoma" EXACT OMO:0003005 [] synonym: "pediatric pilocytic astrocytoma" EXACT [DOID:6812, MONDO:patterns/childhood, NCIT:C4048] synonym: "pilocytic astrocytoma" BROAD [NCIT:C4048] synonym: "pilocytic astrocytoma of childhood" EXACT [MONDO:patterns/childhood, NCIT:C4048] @@ -64911,6 +66854,7 @@ def: "A mediastinal lymphoma with molecular, morphologic, immunophenotypic, and synonym: "mediastinal B-cell lymphoma, unclassifiable, with features Intermediate between diffuse large B-cell lymphoma and Classic Hodgkin lymphoma" EXACT [NCIT:C37870] synonym: "mediastinal B-cell lymphoma, unclassifiable, with features Intermediate between diffuse large B-cell lymphoma and classical Hodgkin lymphoma" EXACT [NCIT:C37870] synonym: "mediastinal Gray zone lymphoma" EXACT [NCIT:C37870] +synonym: "mediastinal Grey zone lymphoma" EXACT OMO:0003005 [] xref: DOID:6867 {source="MONDO:equivalentTo"} xref: NCIT:C37870 {source="MONDO:equivalentTo", source="DOID:6867"} xref: UMLS:C1334657 {source="NCIT:C37870", source="MONDO:equivalentTo", source="DOID:6867"} @@ -65073,6 +67017,7 @@ name: ovarian seromucinous carcinoma def: "A malignant mixed epithelial neoplasm that arises from the ovary and is composed predominantly of serous and endocervical-type mucinous epithelium." [NCIT:C40090] synonym: "malignant ovarian mixed epithelial neoplasm" EXACT [NCIT:C40090] synonym: "malignant ovarian mixed epithelial tumor" EXACT [NCIT:C40090] +synonym: "malignant ovarian mixed epithelial tumour" EXACT OMO:0003005 [] synonym: "mixed epithelial carcinoma of ovary" EXACT [NCIT:C40090] synonym: "mixed epithelial carcinoma of the ovary" EXACT [NCIT:C40090] synonym: "ovarian mixed epithelial carcinoma" EXACT [NCIT:C40090] @@ -65275,9 +67220,13 @@ id: MONDO:0004046 name: childhood brain meningioma def: "A brain meningioma that occurs during childhood." [NCIT:P378] synonym: "Brain meningioma" EXACT [NCIT:C6253] +synonym: "brain paediatric meningioma" EXACT OMO:0003005 [] synonym: "brain pediatric meningioma" EXACT [MONDO:patterns/location] synonym: "childhood meningioma of brain" EXACT [NCIT:C6253] synonym: "childhood meningioma of the brain" EXACT [NCIT:C6253] +synonym: "paediatric brain meningioma" EXACT OMO:0003005 [] +synonym: "paediatric meningioma of brain" EXACT OMO:0003005 [] +synonym: "paediatric meningioma of the brain" EXACT OMO:0003005 [] synonym: "pediatric brain meningioma" EXACT [NCIT:C6253] synonym: "pediatric meningioma of brain" EXACT [DOID:6939, NCIT:C6253] synonym: "pediatric meningioma of the brain" EXACT [NCIT:C6253] @@ -65300,13 +67249,19 @@ synonym: "neoplasm of the sphenoid sinus" EXACT [NCIT:C6792] synonym: "neoplasm of the sphenoidal sinus" EXACT [NCIT:C6792] synonym: "sphenoid sinus neoplasm" EXACT [NCIT:C6792] synonym: "sphenoid sinus tumor" EXACT [NCIT:C6792] +synonym: "sphenoid sinus tumour" EXACT OMO:0003005 [] synonym: "sphenoidal sinus neoplasm" EXACT [NCIT:C6792] synonym: "sphenoidal sinus neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "sphenoidal sinus tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C6792] +synonym: "sphenoidal sinus tumour" EXACT OMO:0003005 [] synonym: "tumor of sphenoid sinus" EXACT [NCIT:C6792] synonym: "tumor of sphenoidal sinus" EXACT [DOID:6947, MONDO:patterns/neoplasm, NCIT:C6792] synonym: "tumor of the sphenoid sinus" EXACT [NCIT:C6792] synonym: "tumor of the sphenoidal sinus" EXACT [NCIT:C6792] +synonym: "tumour of sphenoid sinus" EXACT OMO:0003005 [] +synonym: "tumour of sphenoidal sinus" EXACT OMO:0003005 [] +synonym: "tumour of the sphenoid sinus" EXACT OMO:0003005 [] +synonym: "tumour of the sphenoidal sinus" EXACT OMO:0003005 [] xref: DOID:6947 {source="MONDO:equivalentTo"} xref: NCIT:C6792 {source="MONDO:equivalentTo", source="DOID:6947"} xref: SCTID:126679002 {source="MONDO:equivalentTo", source="DOID:6947"} @@ -65493,6 +67448,8 @@ synonym: "Verner-Morrison syndrome" RELATED EXCLUDE [DOID:6977] synonym: "watery diarrhea syndrome" EXACT [NCIT:C3488] synonym: "watery diarrhea with hypokalemic alkalosis" EXACT [NCIT:C3488] synonym: "watery diarrhea, hypokalemia, and achlorhydria syndrome" EXACT [NCIT:C3488] +synonym: "watery diarrhoea syndrome" EXACT OMO:0003005 [] +synonym: "watery diarrhoea with hypokalemic alkalosis" EXACT OMO:0003005 [] synonym: "WDHA syndrome" EXACT [NCIT:C3488] synonym: "WDHH" EXACT ABBREVIATION [NCIT:C3488] xref: DOID:6977 {source="MONDO:equivalentTo"} @@ -65688,12 +67645,17 @@ subset: gard_rare {source="GARD:0009302"} synonym: "cerebral astrocytoma" BROAD [NCIT:C4347] synonym: "cerebral astrocytoma, childhood" RELATED [GARD:0009302] synonym: "childhood astrocytic tumor of telencephalon" EXACT [MONDO:design_pattern] +synonym: "childhood astrocytic tumour of telencephalon" EXACT OMO:0003005 [] synonym: "childhood astrocytoma of cerebrum" EXACT [NCIT:C4347] synonym: "childhood astrocytoma of the cerebrum" EXACT [NCIT:C4347] +synonym: "paediatric astrocytoma of cerebrum" EXACT OMO:0003005 [] +synonym: "paediatric astrocytoma of the cerebrum" EXACT OMO:0003005 [] +synonym: "paediatric cerebral astrocytoma" EXACT OMO:0003005 [] synonym: "pediatric astrocytoma of cerebrum" EXACT [DOID:7007, NCIT:C4347] synonym: "pediatric astrocytoma of the cerebrum" EXACT [NCIT:C4347] synonym: "pediatric cerebral astrocytoma" EXACT [NCIT:C4347] synonym: "telencephalon childhood astrocytic tumor" EXACT [MONDO:design_pattern, MONDO:patterns/location] +synonym: "telencephalon childhood astrocytic tumour" EXACT OMO:0003005 [] synonym: "telencephalon juvenile astrocytoma" EXACT [MONDO:patterns/location] xref: DOID:7007 {source="MONDO:equivalentTo"} xref: MESH:D001254 {source="DOID:7007"} @@ -65854,6 +67816,10 @@ synonym: "childhood immature ovarian teratoma" EXACT [MONDO:design_pattern] synonym: "childhood immature teratoma of the ovary" EXACT [NCIT:C6547] synonym: "childhood ovarian immature teratoma" EXACT [NCIT:C6547] synonym: "immature ovarian teratoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] +synonym: "paediatric immature ovarian teratoma" EXACT OMO:0003005 [] +synonym: "paediatric immature teratoma of ovary" EXACT OMO:0003005 [] +synonym: "paediatric immature teratoma of the ovary" EXACT OMO:0003005 [] +synonym: "paediatric ovarian immature teratoma" EXACT OMO:0003005 [] synonym: "pediatric immature ovarian teratoma" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "pediatric immature teratoma of ovary" EXACT [DOID:7037, NCIT:C6547] synonym: "pediatric immature teratoma of the ovary" EXACT [NCIT:C6547] @@ -66032,7 +67998,9 @@ id: MONDO:0004093 name: esophageal basaloid carcinoma def: "A rare morphologic variant of esophageal squamous cell carcinoma. Histologically, it is composed of closely packed cells with hyperchromatic nuclei and scant basophilic cytoplasm. It has a similar prognosis to the conventional squamous cell carcinoma of the esophagus. (WHO)" [NCIT:C7032] synonym: "basaloid squamous carcinoma of esophagus" EXACT [DOID:7051, NCIT:C7032] +synonym: "basaloid squamous carcinoma of oesophagus" EXACT OMO:0003005 [] synonym: "basaloid squamous carcinoma of the esophagus" RELATED [NCIT:C7032] +synonym: "basaloid squamous carcinoma of the oesophagus" RELATED OMO:0003005 [] synonym: "esophageal basaloid cancer" EXACT [NCIT:C7032] synonym: "esophageal basaloid carcinoma" EXACT [NCIT:C7032] synonym: "esophageal basaloid squamous cell carcinoma" RELATED [NCIT:C7032] @@ -66110,9 +68078,11 @@ id: MONDO:0004098 name: malignant melanocytic peripheral nerve sheath tumor of mediastinum def: "A rare variant of malignant peripheral nerve sheath tumor that arises from the mediastinum. It is characterized by the presence of malignant cells that contain melanin." [NCIT:P378] synonym: "malignant mediastinal melanocytic peripheral nerve sheath tumor" EXACT [NCIT:C6630] +synonym: "malignant mediastinal melanocytic peripheral nerve sheath tumour" EXACT OMO:0003005 [] synonym: "malignant melanocytic neoplasm of the peripheral nerve sheath of mediastinum" EXACT [MONDO:design_pattern] synonym: "malignant melanocytic peripheral nerve sheath tumor of mediastinum" EXACT [NCIT:C6630] synonym: "malignant melanotic peripheral nerve sheath tumor of the mediastinum" EXACT [NCIT:C6630] +synonym: "malignant melanotic peripheral nerve sheath tumour of the mediastinum" EXACT OMO:0003005 [] synonym: "mediastinal melanocytic MPNST" EXACT [DOID:7077, NCIT:C6630] synonym: "mediastinum malignant melanocytic neoplasm of the peripheral nerve sheath" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:7077 {source="MONDO:equivalentTo"} @@ -66196,7 +68166,9 @@ is_a: MONDO:0005075 {source="DOID:7089", source="NCIT:C35558"} ! thyroid gland p id: MONDO:0004104 name: splenic manifestation of hairy cell leukemia def: "A hairy cell leukemia that involves the spleen." [MONDO:patterns/location] +synonym: "hairy cell leukaemia of spleen" EXACT OMO:0003005 [] synonym: "hairy cell leukemia of spleen" EXACT [DOID:709] +synonym: "spleen hairy cell leukaemia" EXACT OMO:0003005 [] synonym: "spleen hairy cell leukemia" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "splenic manifestation of hairy cell leukemia" EXACT [NCIT:C7301] xref: DOID:709 {source="MONDO:equivalentTo"} @@ -66217,6 +68189,7 @@ def: "An epithelioid sarcoma occurring in childhood." [NCIT:C8095] synonym: "childhood epithelioid sarcoma" EXACT [NCIT:C8095] synonym: "epithelioid sarcoma" BROAD [NCIT:C8095] synonym: "epithelioid sarcoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] +synonym: "paediatric epithelioid sarcoma" EXACT OMO:0003005 [] synonym: "pediatric epithelioid sarcoma" EXACT [MONDO:patterns/childhood, NCIT:C8095] xref: DOID:7095 {source="MONDO:equivalentTo"} xref: NCIT:C8095 {source="MONDO:equivalentTo", source="DOID:7095"} @@ -66230,6 +68203,7 @@ id: MONDO:0004106 name: testicular yolk sac tumor, macrocystic pattern def: "A yolk sac tumor that arises from the testis and is characterized by the presence of collections of thin-walled spaces." [NCIT:C39924] synonym: "macrocystic pattern testicular yolk sac tumor" RELATED [DOID:7097] +synonym: "macrocystic pattern testicular yolk sac tumour" RELATED OMO:0003005 [] synonym: "testicular yolk sac tumor, macrocystic pattern" EXACT [NCIT:C39924] xref: DOID:7097 {source="MONDO:equivalentTo"} xref: NCIT:C39924 {source="MONDO:equivalentTo", source="NCIT:C39924", source="DOID:7097"} @@ -66240,8 +68214,11 @@ is_a: MONDO:0003402 {source="DOID:7097", source="NCIT:C39924"} ! testicular yolk id: MONDO:0004107 name: splenic manifestation of leukemia def: "A leukemia (disease) that involves the spleen." [MONDO:patterns/location] +synonym: "leukaemia (disease) of spleen" EXACT OMO:0003005 [] synonym: "leukemia (disease) of spleen" EXACT [] +synonym: "spleen leukaemia (disease)" EXACT OMO:0003005 [] synonym: "spleen leukemia (disease)" EXACT [MONDO:patterns/location] +synonym: "splenic leukaemia" RELATED OMO:0003005 [] synonym: "splenic leukemia" RELATED [DOID:710] synonym: "splenic manifestation of leukemia" EXACT [NCIT:C7296] xref: DOID:710 {source="MONDO:equivalentTo"} @@ -66278,15 +68255,21 @@ alt_id: MONDO:0021347 def: "A benign or malignant neoplasm that affects the epiglottis." [NCIT:P378] synonym: "epiglottic neoplasm" EXACT [NCIT:C4933] synonym: "epiglottic tumor" EXACT [DOID:7105, NCIT:C4933] +synonym: "epiglottic tumour" EXACT OMO:0003005 [] synonym: "epiglottis neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "Epiglottis tumor" EXACT [NCIT:C4933] synonym: "epiglottis tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "Epiglottis tumour" EXACT OMO:0003005 [] +synonym: "epiglottis tumour" EXACT OMO:0003005 [] synonym: "neoplasm of Epiglottis" EXACT [NCIT:C4933] synonym: "neoplasm of epiglottis" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the Epiglottis" EXACT [NCIT:C4933] synonym: "tumor of Epiglottis" EXACT [NCIT:C4933] synonym: "tumor of epiglottis" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of the Epiglottis" EXACT [NCIT:C4933] +synonym: "tumour of Epiglottis" EXACT OMO:0003005 [] +synonym: "tumour of epiglottis" EXACT OMO:0003005 [] +synonym: "tumour of the Epiglottis" EXACT OMO:0003005 [] xref: DOID:7105 {source="MONDO:equivalentTo"} xref: NCIT:C4933 {source="DOID:7105", source="MONDO:equivalentTo"} xref: SCTID:126699008 {source="DOID:7105", source="MONDO:equivalentTo"} @@ -66404,10 +68387,17 @@ synonym: "esophageal small cell neuroendocrine carcinoma" EXACT [NCIT:C6762] synonym: "esophagus Oat cell carcinoma" EXACT [NCIT:C6762] synonym: "esophagus small cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C6762] synonym: "Oat cell carcinoma of esophagus" EXACT [DOID:7134, NCIT:C6762] +synonym: "Oat cell carcinoma of oesophagus" EXACT OMO:0003005 [] synonym: "Oat cell carcinoma of the esophagus" EXACT [NCIT:C6762] +synonym: "Oat cell carcinoma of the oesophagus" EXACT OMO:0003005 [] +synonym: "oesophagus Oat cell carcinoma" EXACT OMO:0003005 [] +synonym: "oesophagus small cell carcinoma" EXACT OMO:0003005 [] synonym: "small cell carcinoma of esophagus" EXACT [NCIT:C6762] +synonym: "small cell carcinoma of oesophagus" EXACT OMO:0003005 [] synonym: "small cell carcinoma of the esophagus" EXACT [NCIT:C6762] +synonym: "small cell carcinoma of the oesophagus" EXACT OMO:0003005 [] synonym: "small cell carcinoma, esophagus" EXACT [NCIT:C6762] +synonym: "small cell carcinoma, oesophagus" EXACT OMO:0003005 [] xref: DOID:7134 {source="MONDO:equivalentTo"} xref: NCIT:C6762 {source="MONDO:equivalentTo", source="DOID:7134"} xref: UMLS:C1112474 {source="NCIT:C6762", source="MONDO:equivalentTo", source="DOID:7134"} @@ -66627,6 +68617,7 @@ id: MONDO:0004131 name: anal verrucous carcinoma def: "A large, well differentiated squamous cell carcinoma with a cauliflower-like appearance, characterized by the presence of an exophytic and endophytic growth pattern. Morphologically, there is papillomatosis and acanthosis present, however cytologically the neoplastic squamous cells have a benign appearance. Dysplastic changes are minimal. It does not respond to conservative treatment and it is regarded by many authors as an intermediate lesion between condyloma acuminatum and squamous cell carcinoma." [NCIT:C7470] synonym: "anal Buschke-Lowenstein tumor" EXACT [NCIT:C7470] +synonym: "anal Buschke-Lowenstein tumour" EXACT OMO:0003005 [] synonym: "anal giant (malignant) condyloma" EXACT [DOID:7175, NCIT:C7470] synonym: "anal verrucous carcinoma" EXACT [NCIT:C7470] xref: DOID:7175 {source="MONDO:equivalentTo"} @@ -66729,7 +68720,9 @@ replaced_by: MONDO:0006297 id: MONDO:0004139 name: normocytic anemia def: "Anemia in which the red blood cell volume is normal." [NCIT:C35142] +synonym: "anaemia normocytic" EXACT OMO:0003005 [] synonym: "anemia normocytic" EXACT [DOID:720, MTH:NOCODE] +synonym: "normocytic Anaemia" EXACT OMO:0003005 [] synonym: "normocytic Anemia" EXACT [NCIT:C35142] xref: DOID:720 {source="MONDO:equivalentTo"} xref: ICD9:285.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -66919,6 +68912,7 @@ def: "A recently recognized variant of chronic lymphocytic leukemia/small lympho synonym: "chronic lymphocytic leukemia/small lymphocytic lymphoma with immunoglobulin heavy chain variable-region gene somatic hypermutation" EXACT [NCIT:C37201] synonym: "CLL/SLL with IGVH SHM" EXACT [DOID:7230, NCIT:C37201] synonym: "postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma" EXACT [NCIT:C37201] +synonym: "postgerminal centre chronic lymphocytic leukemia/small lymphocytic lymphoma" EXACT OMO:0003005 [] xref: DOID:7230 {source="MONDO:equivalentTo"} xref: NCIT:C37201 {source="MONDO:equivalentTo", source="DOID:7230"} xref: UMLS:C1333037 {source="NCIT:C37201", source="MONDO:equivalentTo", source="DOID:7230"} @@ -66933,13 +68927,20 @@ synonym: "childhood CNS embryonal cell carcinoma" EXACT [NCIT:C6208] synonym: "childhood embryonal carcinoma of the central nervous system" EXACT [MONDO:design_pattern] synonym: "embryonal carcinoma of childhood central nervous system" EXACT [NCIT:C6208] synonym: "embryonal carcinoma of childhood CNS" EXACT [NCIT:C6208] +synonym: "embryonal carcinoma of paediatric central nervous system" EXACT OMO:0003005 [] +synonym: "embryonal carcinoma of paediatric CNS" EXACT OMO:0003005 [] synonym: "embryonal carcinoma of pediatric central nervous system" EXACT [NCIT:C6208] synonym: "embryonal carcinoma of pediatric CNS" EXACT [DOID:7231, NCIT:C6208] synonym: "embryonal carcinoma of the central nervous system of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "embryonal carcinoma of the childhood central nervous system" EXACT [NCIT:C6208] synonym: "embryonal carcinoma of the childhood CNS" EXACT [NCIT:C6208] +synonym: "embryonal carcinoma of the paediatric central nervous system" EXACT OMO:0003005 [] +synonym: "embryonal carcinoma of the paediatric CNS" EXACT OMO:0003005 [] synonym: "embryonal carcinoma of the pediatric central nervous system" EXACT [NCIT:C6208] synonym: "embryonal carcinoma of the pediatric CNS" EXACT [NCIT:C6208] +synonym: "paediatric central nervous system embryonal carcinoma" EXACT OMO:0003005 [] +synonym: "paediatric CNS embryonal cell carcinoma" RELATED OMO:0003005 [] +synonym: "paediatric embryonal carcinoma of the central nervous system" EXACT OMO:0003005 [] synonym: "pediatric central nervous system embryonal carcinoma" EXACT [NCIT:C6208] synonym: "pediatric CNS embryonal cell carcinoma" RELATED [DOID:7231] synonym: "pediatric embryonal carcinoma of the central nervous system" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] @@ -67243,6 +69244,8 @@ def: "An osteosarcoma arising from the soft tissue, and occurring during childho synonym: "childhood extraosseous osteosarcoma" EXACT [NCIT:C27376] synonym: "childhood extraskeletal osteosarcoma" EXACT [NCIT:C27376] synonym: "extraosseous osteosarcoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] +synonym: "paediatric extraosseous osteosarcoma" EXACT OMO:0003005 [] +synonym: "paediatric extraskeletal osteosarcoma" EXACT OMO:0003005 [] synonym: "pediatric extraosseous osteosarcoma" EXACT [MONDO:patterns/childhood, NCIT:C27376] synonym: "pediatric extraskeletal osteosarcoma" EXACT [DOID:7297, NCIT:C27376] xref: DOID:7297 {source="MONDO:equivalentTo"} @@ -67261,11 +69264,15 @@ synonym: "benign neoplasm of the urethra" EXACT [NCIT:C3619] synonym: "benign neoplasm of urethra" EXACT [NCIT:C3619] synonym: "benign tumor of the urethra" EXACT [NCIT:C3619] synonym: "benign tumor of urethra" EXACT [NCIT:C3619] +synonym: "benign tumour of the urethra" EXACT OMO:0003005 [] +synonym: "benign tumour of urethra" EXACT OMO:0003005 [] synonym: "benign urethra neoplasm" EXACT [NCIT:C3619] synonym: "benign urethra tumor" EXACT [NCIT:C3619] +synonym: "benign urethra tumour" EXACT OMO:0003005 [] synonym: "benign urethral neoplasm" EXACT [NCIT:C3619] synonym: "benign urethral neoplasm NOS" RELATED EXCLUDE [NCIT:C3619] synonym: "benign urethral tumor" EXACT [NCIT:C3619] +synonym: "benign urethral tumour" EXACT OMO:0003005 [] synonym: "neoplasm of urethra" RELATED EXCLUDE [DOID:730] synonym: "neoplasm. urethra" EXACT [DOID:730, NCIT:C3428] synonym: "urethra benign neoplasm" EXACT [MONDO:patterns/location] @@ -67290,6 +69297,7 @@ id: MONDO:0004178 name: testicular yolk sac tumor, endodermal sinus pattern def: "A yolk sac tumor that arises from the testis and is characterized by the presence of connective tissue stalks that contain a blood vessel and are lined by cells with clear cytoplasm and prominent nucleoli." [NCIT:C39927] synonym: "endodermal sinus pattern testicular yolk sac tumor" RELATED [DOID:7302] +synonym: "endodermal sinus pattern testicular yolk sac tumour" RELATED OMO:0003005 [] synonym: "testicular yolk sac tumor, endodermal sinus pattern" EXACT [NCIT:C39927] xref: DOID:7302 {source="MONDO:equivalentTo"} xref: NCIT:C39927 {source="DOID:7302", source="MONDO:equivalentTo", source="NCIT:C39927"} @@ -67310,13 +69318,18 @@ synonym: "benign neoplasm of the urinary tract" EXACT [NCIT:C4893] synonym: "benign neoplasm of urinary tract" EXACT [NCIT:C4893] synonym: "benign tumor of the urinary tract" EXACT [NCIT:C4893] synonym: "benign tumor of urinary tract" EXACT [NCIT:C4893] +synonym: "benign tumour of the urinary tract" EXACT OMO:0003005 [] +synonym: "benign tumour of urinary tract" EXACT OMO:0003005 [] synonym: "benign urinary system neoplasm" EXACT [NCIT:C4893] synonym: "benign urinary tract neoplasm" EXACT [NCIT:C4893] synonym: "benign urinary tract tumor" EXACT [NCIT:C4893] +synonym: "benign urinary tract tumour" EXACT OMO:0003005 [] synonym: "neoplasm of urinary system" BROAD [DOID:731] synonym: "renal system benign neoplasm" EXACT [MONDO:patterns/location] synonym: "tumor of the urinary system" BROAD [DOID:731, NCIT:C3431] synonym: "tumor of urinary tract" BROAD [DOID:731] +synonym: "tumour of the urinary system" BROAD OMO:0003005 [] +synonym: "tumour of urinary tract" BROAD OMO:0003005 [] synonym: "urinary system benign neoplasm" RELATED [DOID:731] synonym: "urinary tract neoplasm" BROAD [DOID:731] xref: DOID:731 {source="MONDO:equivalentTo"} @@ -67477,7 +69490,9 @@ id: MONDO:0004189 name: esophageal tuberculosis def: "A tuberculosis that involves the esophagus." [MONDO:patterns/location] synonym: "esophagus tuberculosis" EXACT [MONDO:patterns/location] +synonym: "oesophagus tuberculosis" EXACT OMO:0003005 [] synonym: "tuberculosis of esophagus" EXACT [DOID:7332] +synonym: "tuberculosis of oesophagus" EXACT OMO:0003005 [] xref: DOID:7332 {source="MONDO:equivalentTo"} xref: ICD9:017.8 {source="DOID:7332"} xref: ICD9:017.80 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -67527,12 +69542,15 @@ synonym: "cancer of urethra" EXACT [DOID:734, MONDO:patterns/cancer] synonym: "malignant neoplasm of the urethra" EXACT [NCIT:C7507] synonym: "malignant neoplasm of urethra" EXACT [MONDO:patterns/cancer, NCIT:C7507] synonym: "malignant tumor of the urethra" EXACT [NCIT:C7507] -synonym: "malignant tumor of urethra" EXACT [NCIT:C7507] -synonym: "malignant tumor of urethra" EXACT [DOID:734] +synonym: "malignant tumor of urethra" EXACT [DOID:734, NCIT:C7507] +synonym: "malignant tumour of the urethra" EXACT OMO:0003005 [] +synonym: "malignant tumour of urethra" EXACT OMO:0003005 [] synonym: "malignant urethra neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7507] synonym: "malignant urethra tumor" EXACT [NCIT:C7507] +synonym: "malignant urethra tumour" EXACT OMO:0003005 [] synonym: "malignant urethral neoplasm" EXACT [DOID:734, NCIT:C7507] synonym: "malignant urethral tumor" EXACT [NCIT:C7507] +synonym: "malignant urethral tumour" EXACT OMO:0003005 [] synonym: "urethra cancer" EXACT [MONDO:patterns/location] synonym: "urethral Ca" EXACT [DOID:734] synonym: "urethral cancer" RELATED [ONCOTREE:UCA] @@ -67562,7 +69580,9 @@ synonym: "childhood dysgerminoma" EXACT [NCIT:C6550] synonym: "childhood dysgerminoma of ovary" EXACT [] synonym: "childhood ovarian dysgerminoma" EXACT [NCIT:C6550] synonym: "childhood ovarian germinomatous germ cell tumor" EXACT [NCIT:C6550] +synonym: "childhood ovarian germinomatous germ cell tumour" EXACT OMO:0003005 [] synonym: "dysgerminoma of ovary of childhood" EXACT [MONDO:patterns/childhood] +synonym: "paediatric dysgerminoma of ovary" EXACT OMO:0003005 [] synonym: "pediatric dysgerminoma of ovary" EXACT [MONDO:patterns/childhood] xref: DOID:7340 {source="MONDO:equivalentTo"} xref: NCIT:C6550 {source="MONDO:equivalentTo", source="DOID:7340"} @@ -67629,6 +69649,7 @@ id: MONDO:0004198 name: testicular yolk sac tumor, solid pattern def: "A yolk sac tumor that arises from the testis and is characterized by the presence of aggregates of polygonal malignant cells with clear cytoplasm and prominent nucleoli." [NCIT:C39925] synonym: "solid pattern testicular yolk sac tumor" RELATED [DOID:7360] +synonym: "solid pattern testicular yolk sac tumour" RELATED OMO:0003005 [] synonym: "testicular yolk sac tumor, solid pattern" EXACT [NCIT:C39925] xref: DOID:7360 {source="MONDO:equivalentTo"} xref: NCIT:C39925 {source="MONDO:equivalentTo", source="DOID:7360", source="NCIT:C39925"} @@ -67791,6 +69812,7 @@ synonym: "cerebral embryonal tumor, not otherwise specified" RELATED EXCLUDE [NC synonym: "cerebral hemisphere PNET" EXACT [NCIT:C4970] synonym: "cerebral hemisphere primitive neuroectodermal neoplasm" EXACT [NCIT:C4970] synonym: "cerebral hemisphere primitive neuroectodermal tumor" EXACT [NCIT:C4970] +synonym: "cerebral hemisphere primitive neuroectodermal tumour" EXACT OMO:0003005 [] synonym: "cerebral PNET" EXACT [NCIT:C4970] synonym: "cerebral primitive neuroectodermal neoplasm" EXACT [NCIT:C4970] synonym: "cerebral primitive neuroectodermal tumor" EXACT [NCIT:C4970] @@ -67806,6 +69828,10 @@ synonym: "primitive neuroectodermal tumor of cerebral hemispheres" EXACT [NCIT:C synonym: "primitive neuroectodermal tumor of cerebrum" EXACT [NCIT:C4970] synonym: "primitive neuroectodermal tumor of the cerebral hemispheres" EXACT [NCIT:C4970] synonym: "primitive neuroectodermal tumor of the cerebrum" EXACT [NCIT:C4970] +synonym: "primitive neuroectodermal tumour of cerebral hemispheres" EXACT OMO:0003005 [] +synonym: "primitive neuroectodermal tumour of cerebrum" EXACT OMO:0003005 [] +synonym: "primitive neuroectodermal tumour of the cerebral hemispheres" EXACT OMO:0003005 [] +synonym: "primitive neuroectodermal tumour of the cerebrum" EXACT OMO:0003005 [] xref: DOID:7398 {source="MONDO:equivalentTo"} xref: MESH:D018242 {source="DOID:7398"} xref: NCIT:C4970 {source="MONDO:equivalentTo", source="DOID:7398"} @@ -67819,8 +69845,11 @@ name: colonic L-cell glucagon-like peptide producing tumor def: "A neuroendocrine tumor that arises from the colon and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns." [NCIT:C27447] synonym: "colon L-cell glucagon-like peptide-producing NET" EXACT [NCIT:C27447] synonym: "colon L-cell glucagon-like peptide-producing neuroendocrine tumor" EXACT [MONDO:patterns/location, NCIT:C27447] +synonym: "colon L-cell glucagon-like peptide-producing neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "colonic L-cell glucagon-like peptide-producing neuroendocrine tumor" EXACT [NCIT:C27447] +synonym: "colonic L-cell glucagon-like peptide-producing neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "L-cell glucagon-like peptide-producing neuroendocrine tumor of colon" EXACT [MONDO:design_pattern] +synonym: "L-cell glucagon-like peptide-producing neuroendocrine tumour of colon" EXACT OMO:0003005 [] xref: DOID:7401 {source="MONDO:equivalentTo"} xref: NCIT:C27447 {source="DOID:7401", source="MONDO:equivalentTo"} xref: UMLS:C3274139 {source="DOID:7401", source="MONDO:equivalentTo", source="NCIT:C27447"} @@ -67834,6 +69863,7 @@ id: MONDO:0004211 name: L-cell glucagon-like peptide-producing neuroendocrine tumor def: "A neuroendocrine tumor that arises from the gastrointestinal tract and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns." [NCIT:C27448] synonym: "L-cell glucagon-like peptide producing tumor" RELATED [DOID:7402] +synonym: "L-cell glucagon-like peptide producing tumour" RELATED OMO:0003005 [] synonym: "L-cell glucagon-like peptide-producing NET" EXACT [NCIT:C27448] synonym: "L-cell glucagon-like peptide-producing neuroendocrine tumor" EXACT [NCIT:C27448] xref: DOID:7402 {source="MONDO:equivalentTo"} @@ -67924,9 +69954,13 @@ name: childhood brain germinoma def: "A germinoma arising from the brain during childhood." [NCIT:P378] synonym: "brain germinoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "germinoma of childhood brain" EXACT [NCIT:C6207] +synonym: "germinoma of paediatric brain" EXACT OMO:0003005 [] synonym: "germinoma of pediatric brain" EXACT [NCIT:C6207] synonym: "germinoma of the childhood brain" EXACT [NCIT:C6207] +synonym: "germinoma of the paediatric brain" EXACT OMO:0003005 [] synonym: "germinoma of the pediatric brain" EXACT [DOID:7429, NCIT:C6207] +synonym: "paediatric brain germ cell cancer" EXACT OMO:0003005 [] +synonym: "paediatric brain germinoma" EXACT OMO:0003005 [] synonym: "pediatric brain germ cell cancer" EXACT [NCIT:C6207] synonym: "pediatric brain germinoma" EXACT [MONDO:patterns/childhood, NCIT:C6207] xref: DOID:7429 {source="MONDO:equivalentTo"} @@ -67941,17 +69975,27 @@ id: MONDO:0004218 name: childhood germ cell brain tumor def: "A germ cell tumor arising from brain during childhood." [NCIT:P378] synonym: "Brain germ cell tumor" EXACT [NCIT:C5795] +synonym: "Brain germ cell tumour" EXACT OMO:0003005 [] synonym: "childhood brain germ cell neoplasm" EXACT [NCIT:C5795] synonym: "childhood brain germ cell tumor" EXACT [NCIT:C5795] +synonym: "childhood brain germ cell tumour" EXACT OMO:0003005 [] synonym: "childhood germ cell brain neoplasm" EXACT [NCIT:C5795] synonym: "germ cell neoplasm of childhood brain" EXACT [NCIT:C5795] +synonym: "germ cell neoplasm of paediatric brain" EXACT OMO:0003005 [] synonym: "germ cell neoplasm of pediatric brain" EXACT [NCIT:C5795] synonym: "germ cell neoplasm of the childhood brain" EXACT [NCIT:C5795] +synonym: "germ cell neoplasm of the paediatric brain" EXACT OMO:0003005 [] synonym: "germ cell neoplasm of the pediatric brain" EXACT [DOID:7430, NCIT:C5795] synonym: "germ cell tumor of childhood brain" EXACT [NCIT:C5795] synonym: "germ cell tumor of pediatric brain" EXACT [NCIT:C5795] synonym: "germ cell tumor of the childhood brain" EXACT [NCIT:C5795] synonym: "germ cell tumor of the pediatric brain" EXACT [NCIT:C5795] +synonym: "germ cell tumour of childhood brain" EXACT OMO:0003005 [] +synonym: "germ cell tumour of paediatric brain" EXACT OMO:0003005 [] +synonym: "germ cell tumour of the childhood brain" EXACT OMO:0003005 [] +synonym: "germ cell tumour of the paediatric brain" EXACT OMO:0003005 [] +synonym: "paediatric brain germ cell neoplasm" EXACT OMO:0003005 [] +synonym: "paediatric brain germ cell tumour" EXACT OMO:0003005 [] synonym: "pediatric brain germ cell neoplasm" EXACT [NCIT:C5795] synonym: "pediatric brain germ cell tumor" EXACT [NCIT:C5795] xref: DOID:7430 {source="MONDO:equivalentTo"} @@ -67989,7 +70033,9 @@ synonym: "body of uterus neoplasm with perivascular epithelioid cell differentia synonym: "uterine corpus PEComa" EXACT [DOID:7437, NCIT:C40180] synonym: "uterine corpus perivascular epithelioid cell tumor" EXACT [NCIT:C40180] synonym: "uterine perivascular epithelioid cell tumor" RELATED [ONCOTREE:UPECOMA] +synonym: "uterine perivascular epithelioid cell tumour" RELATED OMO:0003005 [] synonym: "uterus perivascular epithelioid cell tumor" RELATED [DOID:7437] +synonym: "uterus perivascular epithelioid cell tumour" RELATED OMO:0003005 [] xref: DOID:7437 {source="MONDO:equivalentTo"} xref: NCIT:C40180 {source="NCIT:C40180", source="DOID:7437", source="MONDO:equivalentTo"} xref: ONCOTREE:UPECOMA {source="MONDO:equivalentTo"} @@ -68087,9 +70133,12 @@ synonym: "adenomatoid neoplasm of epididymis" EXACT [NCIT:C6382] synonym: "adenomatoid neoplasm of the epididymis" EXACT [DOID:745, NCIT:C6382] synonym: "adenomatoid tumor of epididymis" EXACT [NCIT:C6382] synonym: "adenomatoid tumor of the epididymis" EXACT [NCIT:C6382] +synonym: "adenomatoid tumour of epididymis" EXACT OMO:0003005 [] +synonym: "adenomatoid tumour of the epididymis" EXACT OMO:0003005 [] synonym: "benign epididymal epithelial mesothelioma" EXACT [DOID:745, NCIT:C6382] synonym: "epididymal adenomatoid tumor" EXACT [NCIT:C6382] synonym: "epididymis adenomatoid tumor" EXACT [MONDO:patterns/location] +synonym: "epididymis adenomatoid tumour" EXACT OMO:0003005 [] xref: DOID:745 {source="MONDO:equivalentTo"} xref: NCIT:C6382 {source="DOID:745", source="MONDO:equivalentTo"} xref: SCTID:449052009 {source="DOID:745", source="MONDO:equivalentTo"} @@ -68125,14 +70174,20 @@ synonym: "adenomatoid tumor" EXACT [NCIT:C3762] synonym: "adenomatoid tumor (morphologic abnormality)" EXACT [DOID:746] synonym: "adenomatoid tumor NOS (morphologic abnormality)" EXACT [DOID:746] synonym: "adenomatoid tumor, benign" EXACT [NCIT:C3762] +synonym: "adenomatoid tumour (morphologic abnormality)" EXACT OMO:0003005 [] +synonym: "adenomatoid tumour NOS (morphologic abnormality)" EXACT OMO:0003005 [] +synonym: "benign localised epithelial mesothelioma" EXACT OMO:0003005 [] synonym: "benign localized epithelial mesothelioma" EXACT [DOID:746, NCIT:C3762] synonym: "benign mesothelial neoplasm" RELATED [NCIT:C3762] synonym: "benign mesothelial tumor" RELATED [NCIT:C3762] +synonym: "benign mesothelial tumour" RELATED OMO:0003005 [] synonym: "benign mesothelioma" RELATED [NCIT:C3762] synonym: "benign neoplasm of mesothelium" RELATED [NCIT:C3762] synonym: "benign neoplasm of the mesothelium" RELATED [NCIT:C3762] synonym: "benign tumor of mesothelium" RELATED [NCIT:C3762] synonym: "benign tumor of the mesothelium" RELATED [NCIT:C3762] +synonym: "benign tumour of mesothelium" RELATED OMO:0003005 [] +synonym: "benign tumour of the mesothelium" RELATED OMO:0003005 [] synonym: "mesothelioma, benign" RELATED [NCIT:C3762] xref: DOID:746 {source="MONDO:equivalentTo"} xref: ICD10CM:D19.9 {source="DOID:746"} @@ -68178,6 +70233,7 @@ id: MONDO:0004233 name: childhood pleomorphic rhabdomyosarcoma def: "A rare aggressive rhabdomyosarcoma occurring in children. The neoplasm is characterized by the presence of bizarre round, spindle, and polygonal cells." [NCIT:P378] synonym: "childhood anaplastic rhabdomyosarcoma" EXACT [DOID:7463, NCIT:C7959] +synonym: "paediatric pleomorphic rhabdomyosarcoma" EXACT OMO:0003005 [] synonym: "pediatric pleomorphic rhabdomyosarcoma" EXACT [MONDO:patterns/childhood, NCIT:C7959] synonym: "pleomorphic childhood rhabdomyosarcoma" EXACT [NCIT:C7959] synonym: "Pleomorphic rhabdomyosarcoma" EXACT [NCIT:C7959] @@ -68204,9 +70260,11 @@ synonym: "CLPD-NK" EXACT [NCIT:C39591, Orphanet:512017] synonym: "CNKL" EXACT ABBREVIATION [Orphanet:512017] synonym: "indolent large granular NK-cell lymphoproliferative disorder" EXACT [NCIT:C39591] synonym: "indolent NK-cell lymphoproliferative disorder" EXACT [NCIT:C39591] +synonym: "natural killer-cell large granular lymphocyte leukaemia" EXACT OMO:0003005 [] synonym: "natural killer-cell large granular lymphocyte leukemia" EXACT [NCIT:C39591] synonym: "NK-cell large granular lymphocyte lymphocytosis" EXACT [DOID:7465, NCIT:C39591] synonym: "NK-cell lineage granular lymphocyte proliferative disorder" EXACT [Orphanet:512017] +synonym: "NK-LGL leukaemia" EXACT OMO:0003005 [] synonym: "NK-LGL leukemia" EXACT [NCIT:C39591] synonym: "NK-LGLL" EXACT [NCIT:C39591] synonym: "NK-type lymphoproliferative disorder of granular lymphocytes" EXACT [NCIT:C39591] @@ -68250,9 +70308,12 @@ id: MONDO:0004236 name: duodenal somatostatinoma def: "A somatostatin-producing neuroendocrine tumor that arises from the duodenum. It is characterized by the presence of tubulo-glandular structures." [NCIT:P378] synonym: "duodenal delta cell somatostatin producing tumor" EXACT [DOID:7479] +synonym: "duodenal delta cell somatostatin producing tumour" EXACT OMO:0003005 [] synonym: "duodenal somatostatin producing tumor" EXACT [NCIT:C27407] +synonym: "duodenal somatostatin producing tumour" EXACT OMO:0003005 [] synonym: "duodenal somatostatin-producing NET" EXACT [NCIT:C27407] synonym: "duodenal somatostatin-producing neuroendocrine tumor" EXACT [NCIT:C27407] +synonym: "duodenal somatostatin-producing neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "duodenal somatostatinoma" EXACT [NCIT:C27407] xref: DOID:7479 {source="MONDO:equivalentTo"} xref: NCIT:C27407 {source="DOID:7479", source="MONDO:equivalentTo"} @@ -68310,11 +70371,15 @@ synonym: "malignant neoplasm of posterior urethra" EXACT [NCIT:C7640] synonym: "malignant neoplasm of the posterior urethra" EXACT [NCIT:C7640] synonym: "malignant tumor of posterior urethra" EXACT [NCIT:C7640] synonym: "malignant tumor of the posterior urethra" EXACT [NCIT:C7640] +synonym: "malignant tumour of posterior urethra" EXACT OMO:0003005 [] +synonym: "malignant tumour of the posterior urethra" EXACT OMO:0003005 [] synonym: "posterior urethra malignant neoplasm" EXACT [NCIT:C7640] synonym: "posterior urethra malignant tumor" EXACT [NCIT:C7640] +synonym: "posterior urethra malignant tumour" EXACT OMO:0003005 [] synonym: "posterior urethral cancer" EXACT [NCIT:C7640] synonym: "posterior urethral malignant neoplasm" EXACT [NCIT:C7640] synonym: "posterior urethral malignant tumor" EXACT [DOID:7488, NCIT:C7640] +synonym: "posterior urethral malignant tumour" EXACT OMO:0003005 [] xref: DOID:7488 {source="MONDO:equivalentTo"} xref: NCIT:C7640 {source="DOID:7488", source="MONDO:equivalentTo"} xref: UMLS:C0279931 {source="DOID:7488", source="NCIT:C7640", source="MONDO:equivalentTo"} @@ -68388,6 +70453,7 @@ id: MONDO:0004245 name: ependymal tumor of brain def: "A tumor arising from the ependymal lining of the ventricles." [NCIT:C3861] synonym: "brain ependymal tumor" EXACT [MONDO:patterns/location] +synonym: "brain ependymal tumour" EXACT OMO:0003005 [] synonym: "brain ependymoma" RELATED [DOID:7497] synonym: "ependymal tumor of brain" EXACT [DOID:7497, NCIT:C3861] synonym: "ependymoma of brain" EXACT [DOID:7497] @@ -68412,8 +70478,11 @@ replaced_by: MONDO:0005833 id: MONDO:0004247 name: peptic ulcer disease def: "A digestive system disease characterized by discontinuation in the inner lining of the gastrointestinal (GI) tract because of gastric acid secretion or pepsin." [https://www.ncbi.nlm.nih.gov/books/NBK534792/] +synonym: "acute peptic ulcer with haemorrhage" EXACT OMO:0003005 [] +synonym: "acute peptic ulcer with haemorrhage and perforation" EXACT OMO:0003005 [] synonym: "acute peptic ulcer with hemorrhage" EXACT [DOID:750] synonym: "acute peptic ulcer with hemorrhage and perforation" EXACT [DOID:750] +synonym: "acute peptic ulcer without haemorrhage and without perforation" EXACT OMO:0003005 [] synonym: "acute peptic ulcer without hemorrhage and without perforation" EXACT [DOID:750] synonym: "peptic ulcer" EXACT [NCIT:C3318] xref: DOID:750 {source="MONDO:equivalentTo"} @@ -68455,6 +70524,8 @@ id: MONDO:0004249 name: pediatric supratentorial ependymoma def: "An ependymoma that arises from the supratentorial region of the brain and occurs during childhood." [NCIT:P378] synonym: "childhood supratentorial ependymoma" EXACT [NCIT:C9043] +synonym: "paediatric cerebral ependymoma" EXACT OMO:0003005 [] +synonym: "paediatric supratentorial ependymoblastoma" EXACT OMO:0003005 [] synonym: "pediatric cerebral ependymoma" EXACT [DOID:7502, NCIT:C6268] synonym: "pediatric supratentorial ependymoblastoma" EXACT [DOID:7502, NCIT:C6772] synonym: "supratentorial ependymoma" BROAD [NCIT:C9043] @@ -68496,14 +70567,20 @@ synonym: "neoplasm of the small bowel" EXACT [NCIT:C4432] synonym: "neoplasm of the small intestine" EXACT [NCIT:C4432] synonym: "small bowel neoplasm" EXACT [NCIT:C4432] synonym: "small bowel tumor" EXACT [NCIT:C4432] +synonym: "small bowel tumour" EXACT OMO:0003005 [] synonym: "small intestinal neoplasm" EXACT [DOID:7505, NCIT:C4432] synonym: "small intestine neoplasm" EXACT [NCIT:C4432] synonym: "small intestine neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "small intestine tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4432] +synonym: "small intestine tumour" EXACT OMO:0003005 [] synonym: "tumor of small bowel" EXACT [NCIT:C4432] synonym: "tumor of small intestine" EXACT [MONDO:patterns/neoplasm, NCIT:C4432] synonym: "tumor of the small bowel" EXACT [NCIT:C4432] synonym: "tumor of the small intestine" EXACT [NCIT:C4432] +synonym: "tumour of small bowel" EXACT OMO:0003005 [] +synonym: "tumour of small intestine" EXACT OMO:0003005 [] +synonym: "tumour of the small bowel" EXACT OMO:0003005 [] +synonym: "tumour of the small intestine" EXACT OMO:0003005 [] xref: DOID:7505 {source="MONDO:equivalentTo"} xref: NCIT:C4432 {source="MONDO:equivalentTo", source="DOID:7505"} xref: SCTID:126832004 {source="MONDO:equivalentTo", source="DOID:7505"} @@ -68517,10 +70594,14 @@ id: MONDO:0004252 name: small intestinal L-cell glucagon-like peptide producing tumor def: "A neuroendocrine tumor that arises from the small intestine and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns." [NCIT:C27452] synonym: "L-cell glucagon-like peptide-producing neuroendocrine tumor of small intestine" EXACT [MONDO:design_pattern] +synonym: "L-cell glucagon-like peptide-producing neuroendocrine tumour of small intestine" EXACT OMO:0003005 [] synonym: "small intestinal L-cell glucagon-like peptide-producing NET" EXACT [NCIT:C27452] synonym: "small intestinal L-cell glucagon-like peptide-producing neuroendocrine tumor" EXACT [NCIT:C27452] +synonym: "small intestinal L-cell glucagon-like peptide-producing neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "small intestinal L-cell, glucagon-like peptide-producing neuroendocrine tumor" EXACT [NCIT:C27452] +synonym: "small intestinal L-cell, glucagon-like peptide-producing neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "small intestine L-cell glucagon-like peptide-producing neuroendocrine tumor" EXACT [MONDO:design_pattern, MONDO:patterns/location] +synonym: "small intestine L-cell glucagon-like peptide-producing neuroendocrine tumour" EXACT OMO:0003005 [] xref: DOID:7506 {source="MONDO:equivalentTo"} xref: NCIT:C27452 {source="DOID:7506", source="MONDO:equivalentTo"} xref: UMLS:C3274143 {source="NCIT:C27452", source="DOID:7506", source="MONDO:equivalentTo"} @@ -68550,6 +70631,7 @@ intersection_of: MONDO:0021099 {source="NCIT:C5201"} ! intraductal papillomatosi id: MONDO:0004254 name: focal intraductal papillomatosis synonym: "focal intraductal papillomatosis" EXACT [NCIT:C7365] +synonym: "localised intraductal papillomatosis" RELATED OMO:0003005 [] synonym: "localized intraductal papillomatosis" RELATED [NCIT:C7365] xref: DOID:7512 {source="MONDO:equivalentObsolete"} xref: NCIT:C7365 {source="NCIT:C7365", source="DOID:7512", source="MONDO:equivalentTo"} @@ -68562,11 +70644,13 @@ name: Wolffian adnexal tumor def: "A benign or malignant epithelial neoplasm of probable Wolffian origin. It predominantly arises from the broad ligament and presents as a unilateral adnexal mass." [NCIT:C40141] synonym: "FATWO" RELATED ABBREVIATION [GARD:0008680] synonym: "female adnexal tumor of probable Wolffian origin" RELATED [GARD:0008680] +synonym: "female adnexal tumour of probable Wolffian origin" RELATED OMO:0003005 [] synonym: "WAT" RELATED ABBREVIATION [GARD:0008680] synonym: "Wolffian adenoma" RELATED [GARD:0008680] synonym: "Wolffian adnexal neoplasm" EXACT [NCIT:C40141] synonym: "Wolffian adnexal tumor" EXACT [NCIT:C40141] synonym: "Wolffian tumor" RELATED [GARD:0008680] +synonym: "Wolffian tumour" RELATED OMO:0003005 [] xref: DOID:7514 {source="MONDO:equivalentTo"} xref: MESH:C536741 {source="DOID:7514", source="MONDO:equivalentTo"} xref: NCIT:C40141 {source="DOID:7514", source="MONDO:equivalentTo"} @@ -68594,8 +70678,12 @@ id: MONDO:0004257 name: childhood central nervous system mixed germ cell tumor def: "A mixed germ cell tumor that arises from the central nervous system and occurs during childhood." [NCIT:P378] synonym: "Central nervous system Mixed germ cell tumor" EXACT [NCIT:C27403] +synonym: "Central nervous system Mixed germ cell tumour" EXACT OMO:0003005 [] synonym: "childhood mixed germ cell tumor of central nervous system" EXACT [MONDO:design_pattern] +synonym: "childhood mixed germ cell tumour of central nervous system" EXACT OMO:0003005 [] synonym: "mixed germ cell tumor of central nervous system of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] +synonym: "mixed germ cell tumour of central nervous system of childhood" EXACT OMO:0003005 [] +synonym: "paediatric mixed germ cell tumour of central nervous system" EXACT OMO:0003005 [] synonym: "pediatric mixed germ cell tumor of central nervous system" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] xref: DOID:7516 {source="MONDO:equivalentTo"} xref: NCIT:C27403 {source="MONDO:equivalentTo", source="DOID:7516"} @@ -68686,6 +70774,7 @@ id: MONDO:0004263 name: pediatric infratentorial ependymoblastoma def: "An embryonal tumor with multilayered rosettes, C19MC-altered that arises from the infratentorial region and occurs in children." [NCIT:P378] synonym: "childhood infratentorial embryonal tumor with Multilayered Rosettes, C19MC-altered" EXACT [NCIT:C6773] +synonym: "childhood infratentorial embryonal tumour with Multilayered Rosettes, C19MC-altered" EXACT OMO:0003005 [] synonym: "childhood infratentorial ependymoblastoma" EXACT [NCIT:C6773] synonym: "pediatric infratentorial ependymoblastoma" EXACT [NCIT:C6773] xref: DOID:7522 {source="MONDO:equivalentTo"} @@ -68701,9 +70790,11 @@ intersection_of: MONDO:0016715 ! ependymoblastoma id: MONDO:0004264 name: acute gonococcal endometritis synonym: "acute gonorrhea of uterus" EXACT [DOID:7527] +synonym: "acute gonorrhoea of uterus" EXACT OMO:0003005 [] synonym: "gonococcal endometritis" EXACT [DOID:7527] synonym: "gonococcal endometritis (acute)" EXACT [DOID:7527, ICD9CM:098.16] synonym: "uterus - acute gonorrhea" EXACT [DOID:7527] +synonym: "uterus - acute gonorrhoea" EXACT OMO:0003005 [] xref: DOID:7527 {source="MONDO:equivalentTo"} xref: ICD9:098.16 {source="MONDO:equivalentTo", source="DOID:7527", source="MONDO:i2s"} xref: SCTID:186913003 {source="DOID:7527"} @@ -69049,6 +71140,7 @@ synonym: "intraductal papillary mucinous neoplasm" RELATED [ONCOTREE:IPMN] synonym: "IPMN" EXACT ABBREVIATION [NCIT:C38342] synonym: "pancreatic intraductal papillary-mucinous neoplasm" EXACT [NCIT:C38342] synonym: "pancreatic intraductal papillary-mucinous tumor" EXACT [NCIT:C38342] +synonym: "pancreatic intraductal papillary-mucinous tumour" EXACT OMO:0003005 [] synonym: "pancreatic IPMN" EXACT [NCIT:C38342] xref: DOID:7575 {source="MONDO:equivalentTo"} xref: NCIT:C38342 {source="NCIT:C38342", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:7575"} @@ -69442,8 +71534,10 @@ id: MONDO:0004310 name: adult embryonal tumor with multilayered rosettes, c19mc-altered def: "An embryonal tumor with multilayered rosettes, C19MC-altered, occurring in adults." [NCIT:C8290] synonym: "adult embryonal tumor with multilayered rosettes, C19MC-altered" EXACT [NCIT:C8290] +synonym: "adult embryonal tumour with multilayered rosettes, C19MC-altered" EXACT OMO:0003005 [] synonym: "adult ependymoblastoma" EXACT [NCIT:C8290] synonym: "embryonal tumor with multilayered rosettes, C19MC-altered" BROAD [NCIT:C8290] +synonym: "embryonal tumour with multilayered rosettes, C19MC-altered" BROAD OMO:0003005 [] synonym: "ependymoblastoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] xref: DOID:7631 {source="MONDO:equivalentTo"} xref: NCIT:C8290 {source="DOID:7631", source="MONDO:equivalentTo"} @@ -69501,12 +71595,16 @@ intersection_of: disease_has_location UBERON:3011045 ! gasserian ganglion id: MONDO:0004314 name: malignant cutaneous granular cell skin tumor synonym: "malignant cutaneous granular cell tumor" EXACT [NCIT:C5614] +synonym: "malignant cutaneous granular cell tumour" EXACT OMO:0003005 [] synonym: "malignant granular cell neoplasm of skin" EXACT [NCIT:C5614] synonym: "malignant granular cell neoplasm of the skin" EXACT [NCIT:C5614] synonym: "malignant granular cell skin neoplasm" EXACT [DOID:7639, NCIT:C5614] synonym: "malignant granular cell skin tumor" EXACT [NCIT:C5614] +synonym: "malignant granular cell skin tumour" EXACT OMO:0003005 [] synonym: "malignant granular cell tumor of skin" EXACT [DOID:7639, NCIT:C5614] synonym: "malignant granular cell tumor of the skin" EXACT [NCIT:C5614] +synonym: "malignant granular cell tumour of skin" EXACT OMO:0003005 [] +synonym: "malignant granular cell tumour of the skin" EXACT OMO:0003005 [] xref: DOID:7639 {source="MONDO:equivalentTo"} xref: NCIT:C5614 {source="MONDO:equivalentTo", source="DOID:7639"} xref: UMLS:C1334575 {source="MONDO:equivalentTo", source="DOID:7639", source="NCIT:C5614"} @@ -69586,6 +71684,7 @@ id: MONDO:0004320 name: adult infiltrating astrocytic neoplasm synonym: "adult infiltrating astrocytic neoplasm" EXACT [NCIT:C8289] synonym: "adult infiltrating astrocytic tumor" EXACT [DOID:7656, NCIT:C8289] +synonym: "adult infiltrating astrocytic tumour" EXACT OMO:0003005 [] synonym: "adult infiltrating astrocytoma" NARROW [DOID:7656, MTH:NOCODE] xref: DOID:7656 {source="MONDO:equivalentTo"} xref: NCIT:C8289 {source="DOID:7656", source="MONDO:equivalentTo"} @@ -69772,14 +71871,18 @@ synonym: "cancer of lung hilus" EXACT [MONDO:patterns/cancer] synonym: "lung hilus cancer" EXACT [MONDO:patterns/location] synonym: "malignant hilar lung neoplasm" EXACT [NCIT:C4566] synonym: "malignant hilar lung tumor" EXACT [NCIT:C4566] +synonym: "malignant hilar lung tumour" EXACT OMO:0003005 [] synonym: "malignant lung hilum neoplasm" EXACT [NCIT:C4566] synonym: "malignant lung hilum tumor" EXACT [NCIT:C4566] +synonym: "malignant lung hilum tumour" EXACT OMO:0003005 [] synonym: "malignant lung hilus neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of lung hilum" EXACT [NCIT:C4566] synonym: "malignant neoplasm of lung hilus" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of the lung hilum" EXACT [NCIT:C4566] synonym: "malignant tumor of lung hilum" EXACT [DOID:7696, NCIT:C4566] synonym: "malignant tumor of the lung hilum" EXACT [NCIT:C4566] +synonym: "malignant tumour of lung hilum" EXACT OMO:0003005 [] +synonym: "malignant tumour of the lung hilum" EXACT OMO:0003005 [] synonym: "primary malignant neoplasm of hilus of lung" EXACT [DOID:7696] xref: DOID:7696 {source="MONDO:equivalentTo"} xref: NCIT:C4566 {source="MONDO:equivalentTo"} @@ -69796,11 +71899,15 @@ id: MONDO:0004333 name: pancreatic ACTH-producing neuroendocrine tumor def: "A malignant, ectopic ACTH secreting pancreatic neuroendocrine tumor, associated with Cushing's syndrome. The prognosis is usually poor." [NCIT:C27466] synonym: "pancreatic ACTH hormone producing tumor" RELATED [DOID:7697] +synonym: "pancreatic ACTH hormone producing tumour" RELATED OMO:0003005 [] synonym: "pancreatic ACTH producing NET" EXACT [NCIT:C27466] synonym: "pancreatic ACTH producing neuroendocrine tumor" EXACT [NCIT:C27466] +synonym: "pancreatic ACTH producing neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "pancreatic ACTH producing tumor" EXACT [NCIT:C27466] +synonym: "pancreatic ACTH producing tumour" EXACT OMO:0003005 [] synonym: "pancreatic ACTH-producing neuroendocrine tumor" EXACT [NCIT:C27466] synonym: "pancreatic adrenocorticotropic hormone producing tumor" EXACT [DOID:7697, NCIT:C27466] +synonym: "pancreatic adrenocorticotropic hormone producing tumour" EXACT OMO:0003005 [] xref: DOID:7697 {source="MONDO:equivalentTo"} xref: ICDO:8158/1 {source="NCIT:C27466"} xref: NCIT:C27466 {source="DOID:7697", source="MONDO:equivalentTo"} @@ -69818,26 +71925,37 @@ def: "A low or intermediate grade well differentiated tumor with neuroendocrine subset: gard_rare {source="GARD:0004002"} subset: ordo_disease synonym: "inactive pancreatic endocrine tumor" EXACT [NCIT:C45837] +synonym: "inactive pancreatic endocrine tumour" EXACT OMO:0003005 [] synonym: "non functioning pancreatic endocrine tumor" RELATED [GARD:0004002] +synonym: "non functioning pancreatic endocrine tumour" RELATED OMO:0003005 [] synonym: "non-functional pancreatic neuroendocrine tumor" EXACT [NCIT:C45837] synonym: "non-functioning endocrine pancreatic tumors" RELATED [GARD:0004002] +synonym: "non-functioning endocrine pancreatic tumours" RELATED OMO:0003005 [] synonym: "non-functioning EPTs" RELATED [GARD:0004002] synonym: "non-functioning neuroendocrine tumor of pancreas" RELATED [Orphanet:506075] +synonym: "non-functioning neuroendocrine tumour of pancreas" RELATED OMO:0003005 [] synonym: "non-functioning pancreatic endocrine tumor" EXACT [NCIT:C45837] +synonym: "non-functioning pancreatic endocrine tumour" EXACT OMO:0003005 [] synonym: "non-functioning pancreatic NET" EXACT [NCIT:C45837, Orphanet:506075] synonym: "non-functioning pancreatic neuroendocrine tumor" EXACT [NCIT:C45837, Orphanet:506075] +synonym: "non-functioning pancreatic neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "non-functioning PNET" EXACT [Orphanet:506075] synonym: "non-functioning well differentiated pancreatic endocrine tumor" EXACT [NCIT:C45837] +synonym: "non-functioning well differentiated pancreatic endocrine tumour" EXACT OMO:0003005 [] synonym: "non-functioning well-differentiated NEN of pancreas" EXACT [Orphanet:506075] synonym: "non-functioning well-differentiated neuroendocrine neoplasm of pancreas" EXACT [Orphanet:506075] synonym: "non-functioning well-differentiated pancreatic NEN" EXACT [Orphanet:506075] synonym: "non-functioning well-differentiated pancreatic neuroendocrine neoplasm" EXACT [Orphanet:506075] synonym: "non-syndromic pancreatic NET" EXACT [NCIT:C45837] synonym: "non-syndromic pancreatic neuroendocrine tumor" EXACT [NCIT:C45837] +synonym: "non-syndromic pancreatic neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "nonfunctional pancreatic NET" EXACT [NCIT:C45837] synonym: "nonfunctional pancreatic neuroendocrine tumor" EXACT [NCIT:C45837] +synonym: "nonfunctional pancreatic neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "nonsyndromic pancreatic endocrine tumor" EXACT [NCIT:C45837] +synonym: "nonsyndromic pancreatic endocrine tumour" EXACT OMO:0003005 [] synonym: "nonsyndromic pancreatic neuroendocrine tumor" EXACT [NCIT:C45837] +synonym: "nonsyndromic pancreatic neuroendocrine tumour" EXACT OMO:0003005 [] xref: DOID:7698 {source="MONDO:equivalentTo"} xref: EFO:1000398 {source="MONDO:equivalentTo"} xref: ICDO:8150/3 {source="NCIT:C45837"} @@ -70021,6 +72139,7 @@ def: "A malignant hemangiopericytoma occurring in childhood." [NCIT:P378] comment: Editor note: check SFT/hemangiopericytoma/spindle cell tumor synonym: "malignant childhood hemangiopericytoma" EXACT [NCIT:C8090] synonym: "malignant hemangiopericytoma" BROAD [NCIT:C8090] +synonym: "malignant paediatric hemangiopericytoma" EXACT OMO:0003005 [] synonym: "malignant pediatric hemangiopericytoma" EXACT [DOID:7731, NCIT:C8090] xref: DOID:7731 {source="MONDO:equivalentTo"} xref: NCIT:C8090 {source="DOID:7731", source="MONDO:equivalentTo"} @@ -70037,13 +72156,26 @@ synonym: "childhood malignant neoplasm of the peripheral nerve sheath" EXACT [NC synonym: "childhood malignant neurilemmoma" EXACT [NCIT:C8094] synonym: "childhood malignant peripheral nerve sheath neoplasm" EXACT [NCIT:C8094] synonym: "childhood malignant peripheral nerve sheath tumor" EXACT [NCIT:C8094] +synonym: "childhood malignant peripheral nerve sheath tumour" EXACT OMO:0003005 [] synonym: "childhood malignant schwannoma" EXACT [NCIT:C8094] synonym: "childhood malignant tumor of peripheral nerve sheath" EXACT [NCIT:C8094] synonym: "childhood malignant tumor of the peripheral nerve sheath" EXACT [NCIT:C8094] +synonym: "childhood malignant tumour of peripheral nerve sheath" EXACT OMO:0003005 [] +synonym: "childhood malignant tumour of the peripheral nerve sheath" EXACT OMO:0003005 [] synonym: "childhood MPNST" EXACT [NCIT:C8094] synonym: "childhood neurofibrosarcoma" EXACT [NCIT:C8094] synonym: "childhood neurogenic sarcoma" EXACT [NCIT:C8094] synonym: "malignant peripheral nerve sheath tumor" BROAD [NCIT:C8094] +synonym: "malignant peripheral nerve sheath tumour" BROAD OMO:0003005 [] +synonym: "paediatric malignant neoplasm of peripheral nerve sheath" EXACT OMO:0003005 [] +synonym: "paediatric malignant neoplasm of the peripheral nerve sheath" EXACT OMO:0003005 [] +synonym: "paediatric malignant neurilemmoma" EXACT OMO:0003005 [] +synonym: "paediatric malignant peripheral nerve sheath neoplasm" EXACT OMO:0003005 [] +synonym: "paediatric malignant peripheral nerve sheath tumour" EXACT OMO:0003005 [] +synonym: "paediatric malignant schwannoma" EXACT OMO:0003005 [] +synonym: "paediatric malignant tumour of peripheral nerve sheath" EXACT OMO:0003005 [] +synonym: "paediatric malignant tumour of the peripheral nerve sheath" EXACT OMO:0003005 [] +synonym: "paediatric MPNST" EXACT OMO:0003005 [] synonym: "pediatric malignant neoplasm of peripheral nerve sheath" EXACT [NCIT:C8094] synonym: "pediatric malignant neoplasm of the peripheral nerve sheath" EXACT [NCIT:C8094] synonym: "pediatric malignant neurilemmoma" EXACT [NCIT:C8094] @@ -70188,10 +72320,14 @@ is_a: MONDO:0004355 {source="DOID:7756", source="NCIT:C3845/inferred"} ! childho id: MONDO:0004355 name: childhood leukemia def: "An acute or chronic leukemia that occurs during childhood." [NCIT:C4989] +synonym: "childhood leukaemia (disease)" EXACT OMO:0003005 [] synonym: "childhood leukemia" EXACT [NCIT:C4989] synonym: "childhood leukemia (disease)" EXACT [] +synonym: "leukaemia" BROAD OMO:0003005 [] +synonym: "leukaemia (disease) of childhood" EXACT OMO:0003005 [] synonym: "leukemia" BROAD [NCIT:C4989] synonym: "leukemia (disease) of childhood" EXACT [MONDO:patterns/childhood] +synonym: "paediatric leukaemia (disease)" EXACT OMO:0003005 [] synonym: "pediatric leukemia (disease)" EXACT [MONDO:patterns/childhood] xref: DOID:7757 {source="MONDO:equivalentTo"} xref: NCIT:C4989 {source="DOID:7757", source="MONDO:equivalentTo"} @@ -70206,10 +72342,17 @@ id: MONDO:0004356 name: childhood multilocular cystic kidney neoplasm def: "A cystic neoplasm which arises from the kidney and occurs in children. It includes the cystic partially differentiated nephroblastoma and cases in which nephroblastomatous elements are not present." [NCIT:P378] synonym: "benign multilocular cystic renal tumor" RELATED [DOID:7762] +synonym: "benign multilocular cystic renal tumour" RELATED OMO:0003005 [] synonym: "childhood multilocular cystic kidney neoplasm" EXACT [NCIT:C6566] synonym: "childhood multilocular cystic kidney tumor" EXACT [NCIT:C6566] +synonym: "childhood multilocular cystic kidney tumour" EXACT OMO:0003005 [] synonym: "childhood multilocular cystic renal neoplasm" EXACT [NCIT:C6566] synonym: "childhood multilocular cystic renal tumor" EXACT [NCIT:C6566] +synonym: "childhood multilocular cystic renal tumour" EXACT OMO:0003005 [] +synonym: "paediatric multilocular cystic kidney neoplasm" EXACT OMO:0003005 [] +synonym: "paediatric multilocular cystic kidney tumour" EXACT OMO:0003005 [] +synonym: "paediatric multilocular cystic renal neoplasm" EXACT OMO:0003005 [] +synonym: "paediatric multilocular cystic renal tumour" EXACT OMO:0003005 [] synonym: "pediatric multilocular cystic kidney neoplasm" EXACT [NCIT:C6566] synonym: "pediatric multilocular cystic kidney tumor" EXACT [NCIT:C6566] synonym: "pediatric multilocular cystic renal neoplasm" EXACT [NCIT:C6566] @@ -70506,9 +72649,12 @@ name: pancreatic non-functioning delta cell tumor def: "A usually malignant neuroendocrine tumor arising from the delta cells of the pancreas. It is not associated with a hormonal syndrome." [NCIT:C28333] synonym: "non-functional pancreatic Delta cell NET" EXACT [NCIT:C28333] synonym: "non-functional pancreatic Delta cell neuroendocrine tumor" EXACT [NCIT:C28333] +synonym: "non-functional pancreatic Delta cell neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "non-functioning pancreatic Delta cell neoplasm" EXACT [NCIT:C28333] synonym: "non-functioning pancreatic Delta cell tumor" EXACT [NCIT:C28333] +synonym: "non-functioning pancreatic Delta cell tumour" EXACT OMO:0003005 [] synonym: "nonfunctional Pancreatic Delta cell Neuroendocrine tumor" EXACT [NCIT:C28333] +synonym: "nonfunctional Pancreatic Delta cell Neuroendocrine tumour" EXACT OMO:0003005 [] xref: DOID:7840 {source="MONDO:equivalentTo"} xref: NCIT:C28333 {source="DOID:7840", source="MONDO:equivalentTo"} xref: UMLS:C1335311 {source="DOID:7840", source="NCIT:C28333", source="MONDO:equivalentTo"} @@ -70522,6 +72668,7 @@ id: MONDO:0004378 name: pediatric cerebral ependymoblastoma def: "An embryonal tumor with multilayered rosettes, C19MC-altered that arises from the cerebral hemispheres and occurs in children." [NCIT:P378] synonym: "childhood cerebral embryonal tumor with Multilayered Rosettes, C19MC-altered" EXACT [NCIT:C6957] +synonym: "childhood cerebral embryonal tumour with Multilayered Rosettes, C19MC-altered" EXACT OMO:0003005 [] synonym: "childhood cerebral ependymoblastoma" EXACT [NCIT:C6957] xref: DOID:7841 {source="MONDO:equivalentTo"} xref: NCIT:C6957 {source="DOID:7841", source="MONDO:equivalentTo"} @@ -70895,6 +73042,7 @@ def: "Malignant testicular germ cell tumor that is resistant to treatment." [NCI synonym: "refractory cancer of testis" EXACT [NCIT:C9077] synonym: "refractory cancer of the testis" EXACT [NCIT:C9077] synonym: "refractory malignant testicular germ cell tumor" EXACT [NCIT:C9077] +synonym: "refractory malignant testicular germ cell tumour" EXACT OMO:0003005 [] synonym: "refractory testicular cancer" EXACT [NCIT:C9077] synonym: "refractory testicular carcinoma" EXACT [DOID:7928, NCIT:C9077] xref: DOID:7928 {source="MONDO:equivalentTo"} @@ -70909,6 +73057,7 @@ id: MONDO:0004402 name: testicular yolk sac tumor, glandular-alveolar pattern def: "A yolk sac tumor that arises from the testis and is characterized by the presence of gland-like spaces, irregular alveoli, and tubular structures." [NCIT:C39926] synonym: "glandular-alveolar pattern testicular yolk sac tumor" RELATED [DOID:7930] +synonym: "glandular-alveolar pattern testicular yolk sac tumour" RELATED OMO:0003005 [] synonym: "testicular yolk sac tumor, glandular-alveolar pattern" EXACT [NCIT:C39926] xref: DOID:7930 {source="MONDO:equivalentTo"} xref: NCIT:C39926 {source="DOID:7930", source="MONDO:equivalentTo", source="NCIT:C39926"} @@ -70921,6 +73070,7 @@ name: childhood precursor T-lymphoblastic lymphoma/leukemia def: "A T lymphoblastic leukemia/lymphoma that occurs during childhood." [NCIT:P378] synonym: "childhood precursor T-lymphoblastic lymphoma/leukemia" EXACT [NCIT:C5640] synonym: "childhood T lymphoblastic leukemia/lymphoma" EXACT [NCIT:C5640] +synonym: "paediatric precursor T-lymphoblastic lymphoma/leukemia" EXACT OMO:0003005 [] synonym: "pediatric precursor T-lymphoblastic lymphoma/leukemia" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "precursor T-lymphoblastic lymphoma/leukemia of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] xref: DOID:7933 {source="MONDO:equivalentObsolete"} @@ -70966,8 +73116,11 @@ name: adult central nervous system mixed germ cell tumor def: "A mixed germ cell tumor of central nervous system that occurs in an adult." [MONDO:design_pattern] synonym: "adult central nervous system mixed germ cell tumor" EXACT [NCIT:C27402] synonym: "adult mixed germ cell tumor of central nervous system" EXACT [MONDO:design_pattern] +synonym: "adult mixed germ cell tumour of central nervous system" EXACT OMO:0003005 [] synonym: "central nervous system Mixed germ cell tumor" BROAD [NCIT:C27402] +synonym: "central nervous system Mixed germ cell tumour" BROAD OMO:0003005 [] synonym: "mixed germ cell tumor of central nervous system of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] +synonym: "mixed germ cell tumour of central nervous system of adults" EXACT OMO:0003005 [] xref: DOID:7945 {source="MONDO:equivalentTo"} xref: NCIT:C27402 {source="MONDO:equivalentTo", source="DOID:7945", source="MONDO:exact-label-match"} xref: UMLS:C1332195 {source="MONDO:equivalentTo", source="NCIT:C27402", source="DOID:7945"} @@ -71030,13 +73183,18 @@ id: MONDO:0004411 name: duodenal gastrin-producing neuroendocrine tumor def: "A gastrin-producing neuroendocrine tumor that arises from the duodenum. It is characterized by the presence of uniform cells that form pseudorosettes. The neoplastic cells have uniform nuclei and small amount of eosinophilic cytoplasm." [NCIT:C5731] synonym: "duodenal G-cell gastrin producing tumor" EXACT [DOID:7959, NCIT:C5731] +synonym: "duodenal G-cell gastrin producing tumour" EXACT OMO:0003005 [] synonym: "duodenal gastrin-producing NET" EXACT [NCIT:C5731] synonym: "duodenal gastrin-producing neuroendocrine tumor" EXACT [NCIT:C5731] synonym: "duodenal gastrinoma" EXACT [NCIT:C5731] synonym: "duodenum gastrin-producing neuroendocrine tumor" EXACT [MONDO:patterns/location] +synonym: "duodenum gastrin-producing neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "gastrin producing tumor of duodenum" EXACT [NCIT:C5731] synonym: "gastrin producing tumor of the duodenum" EXACT [NCIT:C5731] +synonym: "gastrin producing tumour of duodenum" EXACT OMO:0003005 [] +synonym: "gastrin producing tumour of the duodenum" EXACT OMO:0003005 [] synonym: "gastrin-producing neuroendocrine tumor of duodenum" EXACT [MONDO:design_pattern] +synonym: "gastrin-producing neuroendocrine tumour of duodenum" EXACT OMO:0003005 [] synonym: "gastrinoma of duodenum" EXACT [DOID:7959, NCIT:C5731] synonym: "gastrinoma of the duodenum" EXACT [NCIT:C5731] synonym: "malignant duodenal gastrinoma" EXACT [DOID:7959] @@ -71252,12 +73410,18 @@ synonym: "supraglottic neoplasm" EXACT [NCIT:C6793] synonym: "supraglottic part of larynx neoplasm" EXACT [] synonym: "supraglottic part of larynx neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "supraglottic part of larynx tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "supraglottic part of larynx tumour" EXACT OMO:0003005 [] synonym: "supraglottic tumor" EXACT [DOID:8002, NCIT:C6793] +synonym: "supraglottic tumour" EXACT OMO:0003005 [] synonym: "supraglottis neoplasm" EXACT [NCIT:C6793] synonym: "supraglottis tumor" EXACT [NCIT:C6793] +synonym: "supraglottis tumour" EXACT OMO:0003005 [] synonym: "tumor of supraglottic part of larynx" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of supraglottis" EXACT [NCIT:C6793] synonym: "tumor of the supraglottis" EXACT [NCIT:C6793] +synonym: "tumour of supraglottic part of larynx" EXACT OMO:0003005 [] +synonym: "tumour of supraglottis" EXACT OMO:0003005 [] +synonym: "tumour of the supraglottis" EXACT OMO:0003005 [] xref: DOID:8002 {source="MONDO:equivalentTo"} xref: NCIT:C6793 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:8002"} xref: SCTID:126697005 {source="MONDO:equivalentTo", source="DOID:8002"} @@ -71486,6 +73650,9 @@ def: "An embryonal carcinoma that arises from the ovary and occurs in children." synonym: "childhood embryonal carcinoma of ovary" EXACT [NCIT:C6546] synonym: "childhood embryonal carcinoma of the ovary" RELATED [DOID:8036] synonym: "ovarian embryonal carcinoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] +synonym: "paediatric embryonal carcinoma of ovary" EXACT OMO:0003005 [] +synonym: "paediatric embryonal carcinoma of the ovary" EXACT OMO:0003005 [] +synonym: "paediatric ovarian embryonal carcinoma" EXACT OMO:0003005 [] synonym: "pediatric embryonal carcinoma of ovary" EXACT [DOID:8036, NCIT:C6546] synonym: "pediatric embryonal carcinoma of the ovary" EXACT [NCIT:C6546] synonym: "pediatric ovarian embryonal carcinoma" EXACT [MONDO:patterns/childhood, NCIT:C6546] @@ -71634,6 +73801,7 @@ name: childhood central nervous system germinoma def: "A germinoma arising from the central nervous system during childhood." [NCIT:P378] synonym: "Central nervous system germinoma" BROAD [NCIT:C27406] synonym: "central nervous system germinoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] +synonym: "paediatric central nervous system germinoma" EXACT OMO:0003005 [] synonym: "pediatric central nervous system germinoma" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] xref: DOID:8078 {source="MONDO:equivalentTo"} xref: NCIT:C27406 {source="MONDO:equivalentTo", source="DOID:8078"} @@ -71647,6 +73815,7 @@ id: MONDO:0004453 name: testicular yolk sac tumor, myxomatous pattern def: "A yolk sac tumor that arises from the testis and is characterized by the presence of myxomatous tissue that contains collections of malignant cells with prominent nucleoli." [NCIT:C39929] synonym: "myxomatous pattern testicular yolk sac tumor" RELATED [DOID:8081] +synonym: "myxomatous pattern testicular yolk sac tumour" RELATED OMO:0003005 [] synonym: "testicular yolk sac tumor, myxomatous pattern" EXACT [NCIT:C39929] xref: DOID:8081 {source="MONDO:equivalentTo"} xref: NCIT:C39929 {source="NCIT:C39929", source="DOID:8081", source="MONDO:equivalentTo"} @@ -71732,9 +73901,11 @@ id: MONDO:0004460 name: thyroid gland fetal adenoma def: "A thyroid gland adenoma composed of microfollicular structures." [NCIT:P378] synonym: "fetal adenoma" RELATED EXCLUDE [DOID:8102] +synonym: "foetal adenoma" RELATED OMO:0003005 [] synonym: "microfollicular adenoma" EXACT [NCIT:C4160] synonym: "microfollicular adenoma (morphologic abnormality)" EXACT [DOID:8102] synonym: "thyroid fetal adenoma" EXACT [NCIT:C4160] +synonym: "thyroid foetal adenoma" EXACT OMO:0003005 [] synonym: "thyroid gland microfollicular adenoma" EXACT [NCIT:C4160] xref: DOID:8102 {source="MONDO:equivalentTo"} xref: ICDO:8333/0 {source="NCIT:C4160"} @@ -71971,9 +74142,11 @@ synonym: "epiglottic throat cancer" EXACT [NCIT:C35697] synonym: "epiglottis cancer" EXACT [MONDO:patterns/location] synonym: "malignant epiglottic neoplasm" EXACT [NCIT:C4836] synonym: "malignant epiglottic tumor" EXACT [NCIT:C4836] +synonym: "malignant epiglottic tumour" EXACT OMO:0003005 [] synonym: "malignant Epiglottis neoplasm" EXACT [NCIT:C4836] synonym: "malignant epiglottis neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant Epiglottis tumor" EXACT [NCIT:C4836] +synonym: "malignant Epiglottis tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of anterior aspect of epiglottis" NARROW [DOID:8133] synonym: "malignant neoplasm of anterior epiglottis" EXACT [DOID:8133] synonym: "malignant neoplasm of anterior surface of epiglottis" NARROW [DOID:8133, MTH:U001374] @@ -71982,6 +74155,8 @@ synonym: "malignant neoplasm of epiglottis" EXACT [DOID:8133, MONDO:patterns/can synonym: "malignant neoplasm of the Epiglottis" EXACT [NCIT:C4836] synonym: "malignant tumor of Epiglottis" EXACT [DOID:8133, NCIT:C4836] synonym: "malignant tumor of the Epiglottis" EXACT [NCIT:C4836] +synonym: "malignant tumour of Epiglottis" EXACT OMO:0003005 [] +synonym: "malignant tumour of the Epiglottis" EXACT OMO:0003005 [] xref: DOID:8133 {source="MONDO:equivalentTo"} xref: ICD10CM:C10.1 {source="MONDO:equivalentTo", source="DOID:8133"} xref: ICD9:146.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8133"} @@ -72078,6 +74253,9 @@ name: malignant childhood germ cell neoplasm def: "A malignant germ cell tumor that occurs during childhood." [NCIT:C6541] synonym: "malignant childhood germ cell neoplasm" EXACT [NCIT:C6541] synonym: "malignant childhood germ cell tumor" RELATED [NCIT:C6541] +synonym: "malignant childhood germ cell tumour" RELATED OMO:0003005 [] +synonym: "malignant paediatric germ cell neoplasm" RELATED OMO:0003005 [] +synonym: "malignant paediatric germ cell tumour" EXACT OMO:0003005 [] synonym: "malignant pediatric germ cell neoplasm" RELATED [NCIT:C6541] synonym: "malignant pediatric germ cell tumor" EXACT [DOID:8149, NCIT:C6541] xref: DOID:8149 {source="MONDO:equivalentTo"} @@ -72299,6 +74477,7 @@ id: MONDO:0004493 name: testicular yolk sac tumor, papillary pattern def: "A yolk sac tumor that arises from the testis and is characterized by the presence of numerous papillary structures that are lined by cells with prominent nucleoli." [NCIT:C39928] synonym: "papillary pattern testicular yolk sac tumor" RELATED [DOID:8193] +synonym: "papillary pattern testicular yolk sac tumour" RELATED OMO:0003005 [] synonym: "testicular yolk sac tumor, papillary pattern" EXACT [NCIT:C39928] xref: DOID:8193 {source="MONDO:equivalentTo"} xref: NCIT:C39928 {source="MONDO:equivalentTo", source="DOID:8193", source="NCIT:C39928"} @@ -72310,6 +74489,7 @@ id: MONDO:0004494 name: testicular yolk sac tumor, hepatoid pattern def: "A yolk sac tumor that arises from the testis and is characterized by the presence of hepatoid cells collections." [NCIT:C39931] synonym: "hepatoid pattern testicular yolk sac tumor" RELATED [DOID:8195] +synonym: "hepatoid pattern testicular yolk sac tumour" RELATED OMO:0003005 [] synonym: "testicular yolk sac tumor, hepatoid pattern" EXACT [NCIT:C39931] xref: DOID:8195 {source="MONDO:equivalentTo"} xref: NCIT:C39931 {source="MONDO:equivalentTo", source="NCIT:C39931", source="DOID:8195"} @@ -72641,13 +74821,17 @@ name: anterior urethra cancer def: "A malignant neoplasm that affects the portion of the urethra that is close to the outside of the body." [NCIT:P378] synonym: "anterior urethra malignant neoplasm" EXACT [NCIT:C7641] synonym: "anterior urethra malignant tumor" EXACT [NCIT:C7641] +synonym: "anterior urethra malignant tumour" EXACT OMO:0003005 [] synonym: "anterior urethral cancer" EXACT [NCIT:C7641] synonym: "anterior urethral malignant neoplasm" EXACT [NCIT:C7641] synonym: "anterior urethral malignant tumor" EXACT [DOID:8272, NCIT:C7641] +synonym: "anterior urethral malignant tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of anterior urethra" EXACT [NCIT:C7641] synonym: "malignant neoplasm of the anterior urethra" EXACT [NCIT:C7641] synonym: "malignant tumor of anterior urethra" EXACT [NCIT:C7641] synonym: "malignant tumor of the anterior urethra" EXACT [NCIT:C7641] +synonym: "malignant tumour of anterior urethra" EXACT OMO:0003005 [] +synonym: "malignant tumour of the anterior urethra" EXACT OMO:0003005 [] xref: DOID:8272 {source="MONDO:equivalentTo"} xref: NCIT:C7641 {source="MONDO:equivalentTo", source="DOID:8272"} xref: UMLS:C0279930 {source="NCIT:C7641", source="MONDO:equivalentTo", source="DOID:8272"} @@ -72706,6 +74890,7 @@ intersection_of: has_characteristic HP:0003581 ! Adult onset id: MONDO:0004522 name: peritonitis def: "Inflammation of the peritoneum due to infection by bacteria or fungi. Causes include liver disease, perforation of the gastrointestinal tract or biliary tract, and peritoneal dialysis. Patients usually present with abdominal pain and tenderness, fever, chills, and nausea and vomiting. It is an emergency medical condition that requires prompt medical attention and treatment." [NCIT:C26849] +synonym: "acute generalised peritonitis" EXACT OMO:0003005 [] synonym: "acute generalized peritonitis" EXACT [DOID:8283] synonym: "inflammation of peritoneum" EXACT [] synonym: "peritoneum inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] @@ -72832,6 +75017,7 @@ name: non-ossifying fibromyxoid tumor def: "A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. Metaplastic bone formation is not present." [NCIT:C6583] synonym: "nonossifying fibromyxoid neoplasm" EXACT [NCIT:C6583] synonym: "nonossifying fibromyxoid tumor" EXACT [NCIT:C6583] +synonym: "nonossifying fibromyxoid tumour" EXACT OMO:0003005 [] synonym: "nonossifying fibromyxoma" EXACT [DOID:8305, NCIT:C6583] xref: DOID:8305 {source="MONDO:equivalentTo"} xref: NCIT:C6583 {source="DOID:8305", source="MONDO:equivalentTo"} @@ -72914,6 +75100,9 @@ def: "A non-gestational choriocarcinoma that arises from the ovary and occurs in synonym: "childhood choriocarcinoma of ovary" EXACT [NCIT:C6549] synonym: "childhood ovarian choriocarcinoma" EXACT [NCIT:C6549] synonym: "choriocarcinoma of ovary of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] +synonym: "paediatric choriocarcinoma of ovary" EXACT OMO:0003005 [] +synonym: "paediatric choriocarcinoma of the ovary" EXACT OMO:0003005 [] +synonym: "paediatric ovarian choriocarcinoma" EXACT OMO:0003005 [] synonym: "pediatric choriocarcinoma of ovary" EXACT [DOID:8336, MONDO:patterns/childhood, NCIT:C6549] synonym: "pediatric choriocarcinoma of the ovary" EXACT [NCIT:C6549] synonym: "pediatric ovarian choriocarcinoma" EXACT [NCIT:C6549] @@ -72969,6 +75158,8 @@ synonym: "malignant neoplasm of aorta" EXACT [MONDO:patterns/cancer, NCIT:C5375] synonym: "malignant neoplasm of the aorta" EXACT [NCIT:C5375] synonym: "malignant tumor of aorta" EXACT [NCIT:C5375] synonym: "malignant tumor of the aorta" EXACT [NCIT:C5375] +synonym: "malignant tumour of aorta" EXACT OMO:0003005 [] +synonym: "malignant tumour of the aorta" EXACT OMO:0003005 [] xref: DOID:8352 {source="MONDO:equivalentTo"} xref: NCIT:C5375 {source="MONDO:equivalentTo", source="DOID:8352"} xref: UMLS:C1334560 {source="NCIT:C5375", source="MONDO:equivalentTo", source="DOID:8352"} @@ -72986,8 +75177,11 @@ synonym: "malignant epithelioid neoplasm of peripheral nerve sheath" EXACT [NCIT synonym: "malignant epithelioid neoplasm of the peripheral nerve sheath" EXACT [DOID:8353, NCIT:C6561] synonym: "malignant epithelioid peripheral nerve sheath neoplasm" EXACT [NCIT:C6561] synonym: "malignant epithelioid peripheral nerve sheath tumor" EXACT [NCIT:C6561] +synonym: "malignant epithelioid peripheral nerve sheath tumour" EXACT OMO:0003005 [] synonym: "malignant epithelioid tumor of peripheral nerve sheath" EXACT [NCIT:C6561] synonym: "malignant epithelioid tumor of the peripheral nerve sheath" EXACT [NCIT:C6561] +synonym: "malignant epithelioid tumour of peripheral nerve sheath" EXACT OMO:0003005 [] +synonym: "malignant epithelioid tumour of the peripheral nerve sheath" EXACT OMO:0003005 [] xref: DOID:8353 {source="MONDO:equivalentTo"} xref: EFO:1000245 {source="MONDO:equivalentTo"} xref: NCIT:C6561 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:8353"} @@ -73071,11 +75265,15 @@ synonym: "adult malignant neoplasm of the peripheral nerve sheath" EXACT [NCIT:C synonym: "adult malignant neurilemmoma" EXACT [NCIT:C7814] synonym: "adult malignant peripheral nerve sheath neoplasm" EXACT [NCIT:C7814] synonym: "adult malignant peripheral nerve sheath tumor" EXACT [NCIT:C7814] +synonym: "adult malignant peripheral nerve sheath tumour" EXACT OMO:0003005 [] synonym: "adult malignant schwannoma" EXACT [NCIT:C7814] synonym: "adult malignant tumor of peripheral nerve sheath" EXACT [NCIT:C7814] synonym: "adult malignant tumor of the peripheral nerve sheath" EXACT [NCIT:C7814] +synonym: "adult malignant tumour of peripheral nerve sheath" EXACT OMO:0003005 [] +synonym: "adult malignant tumour of the peripheral nerve sheath" EXACT OMO:0003005 [] synonym: "adult MPNST" EXACT [DOID:8369, NCIT:C7814] synonym: "malignant peripheral nerve sheath tumor" BROAD [NCIT:C7814] +synonym: "malignant peripheral nerve sheath tumour" BROAD OMO:0003005 [] xref: DOID:8369 {source="MONDO:equivalentTo"} xref: NCIT:C7814 {source="DOID:8369", source="MONDO:equivalentTo"} xref: UMLS:C0278622 {source="DOID:8369", source="MONDO:equivalentTo", source="NCIT:C7814"} @@ -73090,14 +75288,19 @@ def: "A neoplasm (disease) that involves the lumbar nerve plexus." [MONDO:patter synonym: "lumbar nerve plexus neoplasm" EXACT [] synonym: "lumbar nerve plexus neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "lumbar nerve plexus tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "lumbar nerve plexus tumour" EXACT OMO:0003005 [] synonym: "lumbar plexus neoplasms" EXACT [NCIT:C5824] synonym: "lumbar plexus tumor" EXACT [NCIT:C5824] +synonym: "lumbar plexus tumour" EXACT OMO:0003005 [] synonym: "neoplasm of lumbar nerve plexus" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of lumbar plexus" EXACT [NCIT:C5824] synonym: "neoplasm of the lumbar plexus" EXACT [NCIT:C5824] synonym: "tumor of lumbar nerve plexus" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of lumbar plexus" EXACT [DOID:8389, NCIT:C5824] synonym: "tumor of the lumbar plexus" EXACT [NCIT:C5824] +synonym: "tumour of lumbar nerve plexus" EXACT OMO:0003005 [] +synonym: "tumour of lumbar plexus" EXACT OMO:0003005 [] +synonym: "tumour of the lumbar plexus" EXACT OMO:0003005 [] xref: DOID:8389 {source="MONDO:equivalentTo"} xref: NCIT:C5824 {source="MONDO:equivalentTo", source="DOID:8389"} xref: UMLS:C1334437 {source="MONDO:equivalentTo", source="NCIT:C5824", source="DOID:8389"} @@ -73121,6 +75324,7 @@ id: MONDO:0004548 name: adult type testicular granulosa cell tumor def: "A rare sex cord-stromal tumor that arises from the testis in adults. Gynecomastia is present in approximately a quarter of the patients. Several morphologic patterns have been identified and include insular, gyriform, trabecular, pseudosarcomatous, and solid. Metastases occur in approximately twenty percent of the cases." [NCIT:P378] synonym: "adult testicular granulosa cell tumor" EXACT [] +synonym: "adult testicular granulosa cell tumour" EXACT OMO:0003005 [] synonym: "adult type testicular granulosa cell tumor" EXACT [NCIT:C39946] xref: DOID:8394 {source="MONDO:equivalentTo"} xref: NCIT:C39946 {source="MONDO:equivalentTo", source="DOID:8394"} @@ -73213,6 +75417,8 @@ name: childhood kidney angiomyolipoma def: "An angiomyolipoma occurring in childhood." [NCIT:P378] synonym: "childhood renal angiomyolipoma" EXACT [NCIT:C6565] synonym: "kidney angiomyolipoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] +synonym: "paediatric kidney angiomyolipoma" EXACT OMO:0003005 [] +synonym: "paediatric renal angiomyolipoma" EXACT OMO:0003005 [] synonym: "pediatric kidney angiomyolipoma" EXACT [MONDO:patterns/childhood, NCIT:C6565] synonym: "pediatric renal angiomyolipoma" EXACT [DOID:8410, NCIT:C6565] xref: DOID:8410 {source="MONDO:equivalentTo"} @@ -73293,14 +75499,17 @@ id: MONDO:0004559 name: malignant glandular tumor of peripheral nerve sheath def: "A variant of malignant peripheral nerve sheath tumor characterized by the presence of glandular epithelium." [NCIT:P378] synonym: "glandular malignant peripheral nerve sheath tumor" EXACT [NCIT:C6560] +synonym: "glandular malignant peripheral nerve sheath tumour" EXACT OMO:0003005 [] synonym: "glandular MPNST" EXACT [DOID:8420, NCIT:C6560] synonym: "malignant glandular neoplasm of peripheral nerve sheath" EXACT [NCIT:C6560] synonym: "malignant glandular neoplasm of the peripheral nerve sheath" EXACT [NCIT:C6560] synonym: "malignant glandular peripheral nerve sheath neoplasm" EXACT [NCIT:C6560] synonym: "malignant glandular peripheral nerve sheath tumor" EXACT [NCIT:C6560] +synonym: "malignant glandular peripheral nerve sheath tumour" EXACT OMO:0003005 [] synonym: "malignant glandular schwannoma" EXACT [NCIT:C6560] synonym: "malignant glandular tumor of peripheral nerve sheath" EXACT [NCIT:C6560] synonym: "malignant glandular tumor of the peripheral nerve sheath" EXACT [NCIT:C6560] +synonym: "malignant glandular tumour of the peripheral nerve sheath" EXACT OMO:0003005 [] xref: DOID:8420 {source="MONDO:equivalentTo"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C6560 {source="MONDO:equivalentTo", source="DOID:8420"} @@ -73317,6 +75526,8 @@ synonym: "follicular infundibulum neoplasm" EXACT [NCIT:C4469] synonym: "neoplasm of the follicular infundibulum" EXACT [DOID:8426, NCIT:C4469] synonym: "tumor of follicular infundibulum" EXACT [DOID:8426] synonym: "tumor of the follicular infundibulum" EXACT [NCIT:C4469] +synonym: "tumour of follicular infundibulum" EXACT OMO:0003005 [] +synonym: "tumour of the follicular infundibulum" EXACT OMO:0003005 [] xref: DOID:8426 {source="MONDO:equivalentTo"} xref: ICD9:239.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C4469 {source="DOID:8426", source="MONDO:equivalentTo"} @@ -74025,6 +76236,7 @@ intersection_of: realized_in_response_to_stimulus CHEBI:29745 ! barbiturate [Term] id: MONDO:0004600 name: monocytic leukemia +synonym: "schilling's leukaemia" EXACT OMO:0003005 [] synonym: "schilling's leukemia" EXACT [DOID:8527] xref: DOID:8527 {source="MONDO:equivalentTo"} xref: ICD10CM:C93.Z {source="DOID:8527"} @@ -74143,6 +76355,7 @@ synonym: "epiglottic vallecula cancer" EXACT [MONDO:patterns/location] synonym: "malignant epiglottic vallecula neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of epiglottic vallecula" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of vallecula" EXACT [DOID:8556] +synonym: "malignant tumour of vallecula" EXACT OMO:0003005 [] xref: DOID:8556 {source="MONDO:equivalentTo"} xref: ICD10CM:C10.0 {source="DOID:8556", source="MONDO:equivalentTo"} xref: ICD9:146.3 {source="DOID:8556", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -74166,11 +76379,16 @@ synonym: "malignant neoplasm of posterior wall of oropharynx" EXACT [DOID:8557] synonym: "malignant neoplasm of the oropharynx" EXACT [NCIT:C7398] synonym: "malignant oropharyngeal neoplasm" EXACT [NCIT:C7398] synonym: "malignant oropharyngeal tumor" EXACT [DOID:8557, NCIT:C7398] +synonym: "malignant oropharyngeal tumour" EXACT OMO:0003005 [] synonym: "malignant oropharynx neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of mesopharynx" EXACT [DOID:8557] synonym: "malignant tumor of oropharynx" EXACT [NCIT:C7398] synonym: "malignant tumor of posterior wall of oropharynx" EXACT [DOID:8557] synonym: "malignant tumor of the oropharynx" EXACT [NCIT:C7398] +synonym: "malignant tumour of mesopharynx" EXACT OMO:0003005 [] +synonym: "malignant tumour of oropharynx" EXACT OMO:0003005 [] +synonym: "malignant tumour of posterior wall of oropharynx" EXACT OMO:0003005 [] +synonym: "malignant tumour of the oropharynx" EXACT OMO:0003005 [] synonym: "oropharyngeal cancer" EXACT [DOID:8557] synonym: "oropharyngeal carcinoma" NARROW [DOID:8557, NCIT:C9105] synonym: "oropharynx cancer" EXACT [MONDO:patterns/location] @@ -74251,8 +76469,11 @@ synonym: "malignant neoplasm of soft palate" EXACT [MONDO:patterns/cancer, NCIT: synonym: "malignant neoplasm of the soft palate" EXACT [NCIT:C3529] synonym: "malignant soft palate neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3529] synonym: "malignant soft palate tumor" EXACT [NCIT:C3529] +synonym: "malignant soft palate tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of soft palate" EXACT [NCIT:C3529] synonym: "malignant tumor of the soft palate" EXACT [DOID:8578, NCIT:C3529] +synonym: "malignant tumour of soft palate" EXACT OMO:0003005 [] +synonym: "malignant tumour of the soft palate" EXACT OMO:0003005 [] synonym: "soft palate cancer" EXACT [MONDO:patterns/location] xref: DOID:8578 {source="MONDO:equivalentTo"} xref: ICD10CM:C05.1 {source="DOID:8578", source="MONDO:equivalentTo"} @@ -74352,6 +76573,8 @@ synonym: "malignant gingiva of upper jaw neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of gingiva of upper jaw" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of upper gingiva" EXACT [DOID:8601, MTH:U001011] synonym: "malignant tumor of upper gum" EXACT [DOID:8601] +synonym: "malignant tumour of upper gingiva" EXACT OMO:0003005 [] +synonym: "malignant tumour of upper gum" EXACT OMO:0003005 [] xref: DOID:8601 {source="MONDO:equivalentTo"} xref: ICD10CM:C03.0 {source="DOID:8601"} xref: ICD9:143.0 {source="DOID:8601", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -74536,11 +76759,13 @@ synonym: "cancer of palatine uvula" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of palatine uvula" EXACT [MONDO:patterns/cancer] synonym: "malignant palatine uvula neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of uvula" EXACT [DOID:8635] +synonym: "malignant tumour of uvula" EXACT OMO:0003005 [] synonym: "malignant uvula neoplasm" EXACT [NCIT:C35177] synonym: "malignant uvula tumor" EXACT [NCIT:C35177] +synonym: "malignant uvula tumour" EXACT OMO:0003005 [] synonym: "malignant uvular neoplasm" EXACT [NCIT:C35177] synonym: "malignant uvular tumor" EXACT [DOID:8635, NCIT:C35177] -synonym: "malignant uvular tumor" EXACT [NCIT:C35177] +synonym: "malignant uvular tumour" EXACT OMO:0003005 [] synonym: "palatine uvula cancer" EXACT [MONDO:patterns/location] xref: DOID:8635 {source="MONDO:equivalentTo"} xref: ICD10CM:C05.2 {source="DOID:8635"} @@ -74681,6 +76906,7 @@ synonym: "malignant neoplasm of ventral surface of tongue" NARROW [DOID:8649] synonym: "malignant neoplasm of ventral tongue surface" NARROW [DOID:8649] synonym: "malignant tongue neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C9345] synonym: "malignant tongue tumor" EXACT [NCIT:C9345] +synonym: "malignant tongue tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of anterior two-thirds of tongue" NARROW [DOID:8649] synonym: "malignant tumor of base of tongue" NARROW [DOID:8649] synonym: "malignant tumor of lingual tonsil" NARROW DUBIOUS [DOID:8649, MTH:U001010] @@ -74689,6 +76915,14 @@ synonym: "malignant tumor of mobile part of tongue" NARROW [DOID:8649] synonym: "malignant tumor of posterior tongue" NARROW [DOID:8649, NCIT:C3524] synonym: "malignant tumor of the tongue" EXACT [NCIT:C9345] synonym: "malignant tumor of tongue" EXACT [NCIT:C9345] +synonym: "malignant tumour of anterior two-thirds of tongue" NARROW OMO:0003005 [] +synonym: "malignant tumour of base of tongue" NARROW OMO:0003005 [] +synonym: "malignant tumour of lingual tonsil" NARROW OMO:0003005 [] +synonym: "malignant tumour of lingual tonsil (disorder)" RELATED OMO:0003005 [] +synonym: "malignant tumour of mobile part of tongue" NARROW OMO:0003005 [] +synonym: "malignant tumour of posterior tongue" NARROW OMO:0003005 [] +synonym: "malignant tumour of the tongue" EXACT OMO:0003005 [] +synonym: "malignant tumour of tongue" EXACT OMO:0003005 [] synonym: "tongue cancer" EXACT [MONDO:patterns/location] synonym: "tongue carcinoma" RELATED [GARD:0007779] synonym: "tongue neoplasm malignant" EXACT [DOID:8649] @@ -74895,9 +77129,13 @@ synonym: "malignant neoplasm of postcricoid area" EXACT [NCIT:C9323] synonym: "malignant neoplasm of the postcricoid area" EXACT [NCIT:C9323] synonym: "malignant postcricoid neoplasm" EXACT [NCIT:C9323] synonym: "malignant postcricoid tumor" EXACT [DOID:8660, NCIT:C9323] +synonym: "malignant postcricoid tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of pharyngoesophageal junction" EXACT [DOID:8660] synonym: "malignant tumor of postcricoid area" EXACT [NCIT:C9323] synonym: "malignant tumor of the postcricoid area" EXACT [NCIT:C9323] +synonym: "malignant tumour of pharyngoesophageal junction" EXACT OMO:0003005 [] +synonym: "malignant tumour of postcricoid area" EXACT OMO:0003005 [] +synonym: "malignant tumour of the postcricoid area" EXACT OMO:0003005 [] xref: DOID:8660 {source="MONDO:equivalentTo"} xref: ICD10CM:C13.0 {source="DOID:8660"} xref: ICD9:148.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8660"} @@ -74949,6 +77187,7 @@ synonym: "malignant aryepiglottic fold neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of aryepiglottic fold" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of hypopharyngeal aspect of aryepiglottic fold" EXACT [DOID:8663] synonym: "malignant tumor aryepiglottic fold - hypopharyngeal aspect" EXACT [DOID:8663] +synonym: "malignant tumour aryepiglottic fold - hypopharyngeal aspect" EXACT OMO:0003005 [] xref: DOID:8663 {source="MONDO:equivalentTo"} xref: ICD10CM:C13.1 {source="MONDO:equivalentTo", source="DOID:8663"} xref: ICD9:148.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8663"} @@ -75037,6 +77276,7 @@ synonym: "enterocolitis necrotizing" BROAD [DOID:8677, MTH:NOCODE] synonym: "enterocolitis, necrotizing" RELATED [GARD:0009767] synonym: "necrotizing enterocolitis" BROAD [DOID:8677] synonym: "necrotizing enterocolitis in fetus or newborn" EXACT [DOID:8677] +synonym: "necrotizing enterocolitis in foetus or newborn" EXACT OMO:0003005 [] synonym: "perinatal necrotising enterocolitis" EXACT [DOID:8677] synonym: "pseudomembranous enterocolitis in newborn" EXACT [DOID:8677] xref: DOID:8677 {source="MONDO:equivalentTo"} @@ -75054,7 +77294,9 @@ id: MONDO:0004640 name: alcoholic gastritis def: "Inflammation of the stomach resulting from alcohol ingestion." [NCIT:C26977] synonym: "alcoholic gastritis" EXACT [DOID:8680, NCIT:C26977] +synonym: "alcoholic gastritis, with haemorrhage" EXACT OMO:0003005 [] synonym: "alcoholic gastritis, with hemorrhage" EXACT [DOID:8680] +synonym: "alcoholic gastritis, without mention of haemorrhage" EXACT OMO:0003005 [] synonym: "alcoholic gastritis, without mention of hemorrhage" EXACT [DOID:8680] xref: DOID:8680 {source="MONDO:equivalentTo"} xref: ICD10CM:K29.2 {source="MONDO:equivalentTo", source="DOID:8680"} @@ -75145,6 +77387,7 @@ def: "A cancer that involves the tonsillar pillar." [MONDO:patterns/location] synonym: "malignant neoplasm of tonsillar pillar" EXACT [DOID:8688, MONDO:patterns/location] synonym: "malignant neoplasm of tonsillar pillars, posterior" EXACT [DOID:8688, MONDO:patterns/location] synonym: "malignant tumor of tonsillar pillar" EXACT [DOID:8688, MONDO:patterns/location] +synonym: "malignant tumour of tonsillar pillar" EXACT OMO:0003005 [] xref: DOID:8688 {source="MONDO:equivalentTo"} xref: ICD10CM:C09.1 {source="DOID:8688", source="MONDO:equivalentTo"} xref: ICD9:146.2 {source="DOID:8688", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -75163,15 +77406,23 @@ id: MONDO:0004643 name: myeloid leukemia def: "A clonal proliferation of myeloid cells and their precursors in the bone marrow, peripheral blood, and spleen. When the proliferating cells are immature myeloid cells and myeloblasts, it is called acute myeloid leukemia. When the proliferating myeloid cells are neutrophils, it is called chronic myelogenous leukemia." [NCIT:C3172] subset: gard_rare {source="GARD:0008226"} +synonym: "leukaemia granulocytic" EXACT OMO:0003005 [] +synonym: "leukaemia myelogenous" EXACT OMO:0003005 [] +synonym: "leukaemia myeloid" EXACT OMO:0003005 [] synonym: "leukemia granulocytic" EXACT [NCIT:C3172] synonym: "leukemia myelogenous" EXACT [DOID:8692, MTH:NOCODE] synonym: "leukemia myeloid" EXACT [NCIT:C3172] synonym: "leukemia, granulocytic, malignant" EXACT [NCIT:C3172] +synonym: "myelocytic leukaemia" EXACT OMO:0003005 [] synonym: "myelocytic leukemia" EXACT [NCIT:C3172] +synonym: "myelogenous leukaemia" EXACT OMO:0003005 [] synonym: "myelogenous leukemia" EXACT [NCIT:C3172] +synonym: "myeloid granulocytic leukaemia" EXACT OMO:0003005 [] synonym: "myeloid granulocytic leukemia" EXACT [DOID:8692] synonym: "myeloid leukemia" EXACT [NCIT:C3172] +synonym: "non-lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "non-lymphoblastic leukemia" EXACT [NCIT:C3172] +synonym: "non-lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "non-lymphocytic leukemia" EXACT [DOID:8692, NCIT:C3172] xref: DOID:8692 {source="MONDO:equivalentTo"} xref: ICD10CM:C92 {source="DOID:8692"} @@ -75222,11 +77473,14 @@ synonym: "buccal mucosa cancer" EXACT [MONDO:patterns/location] synonym: "cancer of buccal mucosa" EXACT [MONDO:patterns/cancer] synonym: "malignant buccal mucosa neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C9320] synonym: "malignant buccal mucosa tumor" EXACT [NCIT:C9320] +synonym: "malignant buccal mucosa tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of buccal mucosa" EXACT [DOID:8702, MONDO:patterns/cancer, NCIT:C9320] synonym: "malignant neoplasm of cheek, inner aspect" EXACT [DOID:8702] synonym: "malignant neoplasm of the buccal mucosa" EXACT [DOID:8702, NCIT:C9320] synonym: "malignant tumor of buccal mucosa" EXACT [NCIT:C9320] synonym: "malignant tumor of the buccal mucosa" EXACT [NCIT:C9320] +synonym: "malignant tumour of buccal mucosa" EXACT OMO:0003005 [] +synonym: "malignant tumour of the buccal mucosa" EXACT OMO:0003005 [] xref: DOID:8702 {source="MONDO:equivalentTo"} xref: ICD10CM:C06.0 {source="DOID:8702"} xref: ICD9:145.0 {source="DOID:8702", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -75375,10 +77629,14 @@ synonym: "malignant carotid body neoplasm" RELATED [NCIT:C3574] synonym: "malignant carotid body paraganglioma" EXACT [DOID:8731, NCIT:C3574] synonym: "malignant carotid body tumor" RELATED [NCIT:C3574] synonym: "malignant carotid body tumor (morphologic abnormality)" EXACT [DOID:8731] +synonym: "malignant carotid body tumour" RELATED OMO:0003005 [] +synonym: "malignant carotid body tumour (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "malignant neoplasm of carotid body" RELATED [NCIT:C3574] synonym: "malignant neoplasm of the carotid body" RELATED [NCIT:C3574] synonym: "malignant tumor of carotid body" RELATED [NCIT:C3574] synonym: "malignant tumor of the carotid body" RELATED [NCIT:C3574] +synonym: "malignant tumour of carotid body" RELATED OMO:0003005 [] +synonym: "malignant tumour of the carotid body" RELATED OMO:0003005 [] xref: DOID:8731 {source="MONDO:equivalentTo"} xref: ICD10CM:C75.4 {source="DOID:8731", source="MONDO:equivalentTo"} xref: ICD9:194.5 {source="DOID:8731", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -75458,12 +77716,17 @@ name: atypical chronic myeloid leukemia, BCR-ABL1 negative def: "A myelodysplastic/myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene. (WHO, 2001)" [NCIT:C3519] subset: ordo_disease {source="Orphanet:98824"} synonym: "aCML" EXACT [DOID:0060597, NCIT:C3519] +synonym: "atypical chronic myeloid leukaemia" EXACT OMO:0003005 [] +synonym: "atypical chronic myeloid leukaemia BCR-ABL1 negative" EXACT OMO:0003005 [] synonym: "atypical chronic myeloid leukemia" EXACT [NCIT:C3519] synonym: "atypical chronic myeloid leukemia BCR-ABL1 negative" EXACT [DOID:0060597] synonym: "atypical chronic myeloid leukemia, BCR-ABL1 Negative" EXACT [NCIT:C3519] synonym: "atypical CML" EXACT [DOID:0060597, DOID:8747, NCIT:C3519] +synonym: "subacute granulocytic leukaemia" EXACT OMO:0003005 [] synonym: "subacute granulocytic leukemia" EXACT [DOID:0060597, NCIT:C3519] +synonym: "subacute myelogenous leukaemia" EXACT OMO:0003005 [] synonym: "subacute myelogenous leukemia" EXACT [DOID:0060597, NCIT:C3519] +synonym: "subacute myeloid leukaemia" EXACT OMO:0003005 [] synonym: "subacute myeloid leukemia" EXACT [DOID:0060597, NCIT:C3519, Orphanet:98824] xref: DOID:0060597 {source="MONDO:equivalentTo"} xref: DOID:8747 {source="MONDO:equivalentObsolete"} @@ -75791,8 +78054,11 @@ synonym: "malignant neoplasm of sublingual gland" EXACT [MONDO:patterns/cancer, synonym: "malignant neoplasm of the sublingual gland" EXACT [NCIT:C3527] synonym: "malignant sublingual gland neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3527] synonym: "malignant sublingual gland tumor" EXACT [NCIT:C3527] +synonym: "malignant sublingual gland tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of sublingual gland" EXACT [NCIT:C3527] synonym: "malignant tumor of the sublingual gland" EXACT [DOID:8849, NCIT:C3527] +synonym: "malignant tumour of sublingual gland" EXACT OMO:0003005 [] +synonym: "malignant tumour of the sublingual gland" EXACT OMO:0003005 [] synonym: "sublingual gland cancer" EXACT [MONDO:patterns/location] xref: DOID:8849 {source="MONDO:equivalentTo"} xref: ICD10CM:C08.1 {source="DOID:8849"} @@ -75853,9 +78119,13 @@ synonym: "malignant neoplasm of the salivary gland" EXACT [NCIT:C3811] synonym: "malignant saliva-secreting gland neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant salivary gland neoplasm" EXACT [NCIT:C3811] synonym: "malignant salivary gland tumor" EXACT [NCIT:C3811] +synonym: "malignant salivary gland tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of salivary gland" EXACT [NCIT:C3811] synonym: "malignant tumor of the major salivary gland" NARROW EXCLUDE [DOID:8850] synonym: "malignant tumor of the salivary gland" EXACT [NCIT:C3811] +synonym: "malignant tumour of salivary gland" EXACT OMO:0003005 [] +synonym: "malignant tumour of the major salivary gland" NARROW OMO:0003005 [] +synonym: "malignant tumour of the salivary gland" EXACT OMO:0003005 [] synonym: "saliva-secreting gland cancer" EXACT [] synonym: "salivary gland cancer" EXACT [NCIT:C3811] xref: DOID:8850 {source="MONDO:equivalentTo"} @@ -76121,6 +78391,7 @@ name: retromolar area cancer def: "A malignant form of neoplasm of retromolar area." [MONDO:patterns/malignant] synonym: "malignant neoplasm of retromolar area" EXACT [] synonym: "malignant tumor of retromolar area" EXACT [DOID:8930] +synonym: "malignant tumour of retromolar area" EXACT OMO:0003005 [] synonym: "neoplasm of retromolar area, malignant" EXACT [MONDO:patterns/malignant] xref: DOID:8930 {source="MONDO:equivalentTo"} xref: ICD10CM:C06.2 {source="DOID:8930", source="MONDO:equivalentTo"} @@ -76180,6 +78451,7 @@ synonym: "malignant neoplasm of tonsillar ring" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of Waldeyer's ring" EXACT [DOID:8937] synonym: "malignant tonsillar ring neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of Waldeyer's ring" EXACT [DOID:8937] +synonym: "malignant tumour of Waldeyer's ring" EXACT OMO:0003005 [] synonym: "tonsillar ring cancer" EXACT [MONDO:patterns/location] synonym: "Waldeyer ring cancer" EXACT [DOID:8937] xref: DOID:8937 {source="MONDO:equivalentTo"} @@ -76252,6 +78524,7 @@ synonym: "cancer of tonsillar fossa" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of tonsillar fossa" EXACT [MONDO:patterns/cancer] synonym: "malignant tonsillar fossa neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of tonsillar fossa" EXACT [DOID:8969, MTH:U001012] +synonym: "malignant tumour of tonsillar fossa" EXACT OMO:0003005 [] synonym: "tonsillar fossa cancer" EXACT [MONDO:patterns/location] xref: DOID:8969 {source="MONDO:equivalentTo"} xref: ICD10CM:C09.0 {source="DOID:8969", source="MONDO:equivalentTo"} @@ -76424,7 +78697,10 @@ synonym: "esophageal leukoplakia" EXACT [MONDO:ambiguous] synonym: "esophageal leukoplakia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "esophagus leukoplakia" EXACT [NCIT:C3953] synonym: "leukoplakia of esophagus" EXACT [DOID:9021] +synonym: "leukoplakia of oesophagus" EXACT OMO:0003005 [] synonym: "leukoplakia of the esophagus" EXACT [NCIT:C3953] +synonym: "leukoplakia of the oesophagus" EXACT OMO:0003005 [] +synonym: "oesophagus leukoplakia" EXACT OMO:0003005 [] xref: DOID:9021 {source="MONDO:equivalentTo"} xref: HP:0012859 {source="MONDO:otherHierarchy"} xref: ICD9:530.83 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9021"} @@ -76488,12 +78764,18 @@ synonym: "malignant neoplasm of the parotid" EXACT [DOID:9036, NCIT:C3525] synonym: "malignant neoplasm of the parotid gland" EXACT [NCIT:C3525] synonym: "malignant parotid gland neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3525] synonym: "malignant parotid gland tumor" EXACT [NCIT:C3525] +synonym: "malignant parotid gland tumour" EXACT OMO:0003005 [] synonym: "malignant parotid neoplasm" EXACT [NCIT:C3525] synonym: "malignant parotid tumor" EXACT [NCIT:C3525] +synonym: "malignant parotid tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of parotid" EXACT [NCIT:C3525] synonym: "malignant tumor of parotid gland" EXACT [NCIT:C3525] synonym: "malignant tumor of the parotid" EXACT [NCIT:C3525] synonym: "malignant tumor of the parotid gland" EXACT [NCIT:C3525] +synonym: "malignant tumour of parotid" EXACT OMO:0003005 [] +synonym: "malignant tumour of parotid gland" EXACT OMO:0003005 [] +synonym: "malignant tumour of the parotid" EXACT OMO:0003005 [] +synonym: "malignant tumour of the parotid gland" EXACT OMO:0003005 [] synonym: "parotid cancer" EXACT [DOID:9036] synonym: "parotid gland cancer" EXACT [MONDO:patterns/location, NCIT:C3525] xref: DOID:9036 {source="MONDO:equivalentTo"} @@ -76618,6 +78900,8 @@ synonym: "fibroma of liver" EXACT [NCIT:C5752] synonym: "fibroma of the liver" EXACT [DOID:907, NCIT:C5752] synonym: "hepatic fibroma" EXACT [NCIT:C5752] synonym: "liver fibroma" EXACT [MONDO:patterns/location, NCIT:C5752] +synonym: "liver localised fibrous mesothelioma" EXACT OMO:0003005 [] +synonym: "liver localised fibrous tumour" EXACT OMO:0003005 [] synonym: "liver localized fibrous mesothelioma" EXACT [NCIT:C5752] synonym: "liver localized fibrous tumor" EXACT [NCIT:C5752] synonym: "liver solitary fibrous tumor" EXACT [NCIT:C5752] @@ -76679,16 +78963,20 @@ id: MONDO:0004708 name: esophagus carcinoma in situ def: "Stage 0 includes: For squamous cell carcinoma: Tis (HGD), N0, M0, G1, GX, Tumor location: Any. For adenocarcinoma: Tis (HGD), N0, M0, G1, GX. Tis: High-grade dysplasia. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well differentiated. GX: Grade cannot be assessed-stage grouping as G1. Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus. (AJCC 7th ed.)" [NCIT:P378] synonym: "carcinoma in situ of esophagus" EXACT [DOID:9095, MONDO:patterns/carcinoma_in_situ] +synonym: "carcinoma in situ of oesophagus" EXACT OMO:0003005 [] synonym: "esophageal carcinoma in situ" EXACT [NCIT:C89771] synonym: "esophageal carcinoma in situ aJCC v7" EXACT [NCIT:C89771] synonym: "esophagus in situ carcinoma" EXACT [MONDO:patterns/location] +synonym: "oesophagus in situ carcinoma" EXACT OMO:0003005 [] synonym: "severe esophageal dysplasia" EXACT [DOID:9095, NCIT:C89771] synonym: "severe esophageal dysplasia aJCC v7" EXACT [NCIT:C89771] synonym: "stage 0 carcinoma of the esophagus" EXACT [DOID:9095, NCIT:C3637] +synonym: "stage 0 carcinoma of the oesophagus" EXACT OMO:0003005 [] synonym: "stage 0 esophageal cancer" EXACT [NCIT:C89771] synonym: "stage 0 esophageal cancer aJCC v7" EXACT [NCIT:C89771] synonym: "stage 0 esophageal carcinoma in situ" EXACT [NCIT:C89771] synonym: "stage 0 esophagus carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ] +synonym: "stage 0 oesophagus carcinoma" EXACT OMO:0003005 [] xref: DOID:9095 {source="MONDO:equivalentTo"} xref: ICD10CM:D00.1 {source="MONDO:equivalentTo", source="DOID:9095"} xref: ICD9:230.1 {source="MONDO:equivalentTo", source="DOID:9095", source="MONDO:i2s"} @@ -76712,8 +79000,11 @@ synonym: "neoplasm of the occipital lobe" EXACT [NCIT:C5574] synonym: "occipital lobe neoplasm" EXACT [NCIT:C5574] synonym: "occipital lobe neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "occipital lobe tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5574] +synonym: "occipital lobe tumour" EXACT OMO:0003005 [] synonym: "tumor of occipital lobe" EXACT [DOID:910, MONDO:patterns/neoplasm, NCIT:C5574] synonym: "tumor of the occipital lobe" EXACT [NCIT:C5574] +synonym: "tumour of occipital lobe" EXACT OMO:0003005 [] +synonym: "tumour of the occipital lobe" EXACT OMO:0003005 [] xref: DOID:910 {source="MONDO:equivalentTo"} xref: ICD10CM:C71.4 {source="DOID:910", source="MONDO:equivalentTo"} xref: ICD9:191.4 {source="DOID:910"} @@ -76799,6 +79090,8 @@ synonym: "malignant gingiva of lower jaw neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of gingiva of lower jaw" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of lower gingiva" EXACT [DOID:9125] synonym: "malignant tumor of lower gum" EXACT [DOID:9125] +synonym: "malignant tumour of lower gingiva" EXACT OMO:0003005 [] +synonym: "malignant tumour of lower gum" EXACT OMO:0003005 [] xref: DOID:9125 {source="MONDO:equivalentTo"} xref: ICD10CM:C03.1 {source="DOID:9125"} xref: ICD9:143.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9125"} @@ -76913,11 +79206,13 @@ synonym: "hard palate" EXACT [DOID:9149, NCIT:C12230] synonym: "hard palate cancer" EXACT [MONDO:patterns/location] synonym: "malignant hard palate neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant hard palate tumor" EXACT [NCIT:C3528] +synonym: "malignant hard palate tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of hard palate" EXACT [DOID:9149, MONDO:patterns/cancer, MTH:U001235] synonym: "malignant neoplasm of the hard palate" EXACT [NCIT:C3528] -synonym: "malignant tumor of hard palate" EXACT [DOID:9149] -synonym: "malignant tumor of hard palate" EXACT [NCIT:C3528] +synonym: "malignant tumor of hard palate" EXACT [DOID:9149, NCIT:C3528] synonym: "malignant tumor of the hard palate" EXACT [DOID:9149, NCIT:C3528] +synonym: "malignant tumour of hard palate" EXACT OMO:0003005 [] +synonym: "malignant tumour of the hard palate" EXACT OMO:0003005 [] xref: DOID:9149 {source="MONDO:equivalentTo"} xref: ICD10CM:C05.0 {source="DOID:9149", source="MONDO:equivalentTo"} xref: ICD9:145.2 {source="DOID:9149", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -76991,6 +79286,8 @@ synonym: "malignant neoplasm of submaxillary gland" EXACT [DOID:9173] synonym: "malignant submandibular gland neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of submandibular gland" EXACT [DOID:9173] synonym: "malignant tumor of the submandibular gland" EXACT [DOID:9173, NCIT:C3526] +synonym: "malignant tumour of submandibular gland" EXACT OMO:0003005 [] +synonym: "malignant tumour of the submandibular gland" EXACT OMO:0003005 [] synonym: "submandibular gland cancer" EXACT [MONDO:patterns/location, NCIT:C8396] synonym: "submandibular gland carcinoma" EXACT [NCIT:C8396] xref: DOID:9173 {source="MONDO:equivalentTo"} @@ -77047,6 +79344,7 @@ id: MONDO:0004726 name: liver inflammatory myofibroblastic tumor def: "A multinodular intermediate fibroblastic neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." [NCIT:C5858] synonym: "hepatic inflammatory myofibroblastic tumor" EXACT [NCIT:C5858] +synonym: "hepatic inflammatory myofibroblastic tumour" EXACT OMO:0003005 [] synonym: "inflammatory pseudotumor of liver" RELATED [NCIT:C5858] synonym: "inflammatory pseudotumor of the liver" RELATED [DOID:918, NCIT:C5858] synonym: "liver inflammatory myofibroblastic tumor" EXACT [MONDO:0006269, MONDO:patterns/location, NCIT:C5858] @@ -77071,6 +79369,7 @@ synonym: "malignant neoplasm of oral opening" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of vestibule of mouth" EXACT [DOID:9188] synonym: "malignant oral opening neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of vestibule of mouth" EXACT [DOID:9188, MTH:U001025] +synonym: "malignant tumour of vestibule of mouth" EXACT OMO:0003005 [] synonym: "oral opening cancer" EXACT [MONDO:patterns/location] xref: DOID:9188 {source="MONDO:equivalentTo"} xref: ICD10CM:C06.1 {source="MONDO:equivalentTo", source="DOID:9188"} @@ -77203,12 +79502,18 @@ synonym: "malignant neoplasm of the pyriform fossa" EXACT [DOID:9235, NCIT:C3531 synonym: "malignant neoplasm of the pyriform sinus" EXACT [NCIT:C3531] synonym: "malignant pyriform fossa neoplasm" EXACT [NCIT:C3531] synonym: "malignant pyriform fossa tumor" EXACT [NCIT:C3531] +synonym: "malignant pyriform fossa tumour" EXACT OMO:0003005 [] synonym: "malignant pyriform sinus neoplasm" EXACT [NCIT:C3531] synonym: "malignant pyriform sinus tumor" EXACT [NCIT:C3531] +synonym: "malignant pyriform sinus tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of pyriform fossa" EXACT [NCIT:C3531] synonym: "malignant tumor of pyriform sinus" EXACT [NCIT:C3531] synonym: "malignant tumor of the pyriform fossa" EXACT [NCIT:C3531] synonym: "malignant tumor of the pyriform sinus" EXACT [NCIT:C3531] +synonym: "malignant tumour of pyriform fossa" EXACT OMO:0003005 [] +synonym: "malignant tumour of pyriform sinus" EXACT OMO:0003005 [] +synonym: "malignant tumour of the pyriform fossa" EXACT OMO:0003005 [] +synonym: "malignant tumour of the pyriform sinus" EXACT OMO:0003005 [] xref: DOID:9235 {source="MONDO:equivalentTo"} xref: ICD10CM:C12 {source="MONDO:equivalentTo", source="DOID:9235"} xref: ICD9:148.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9235"} @@ -77492,13 +79797,17 @@ def: "A malignant neoplasm involving the myocardium." [https://orcid.org/0000-00 synonym: "cancer of myocardium" EXACT [MONDO:patterns/cancer] synonym: "malignant myocardial neoplasm" EXACT [NCIT:C4569] synonym: "malignant myocardial tumor" EXACT [DOID:9299, NCIT:C4569] +synonym: "malignant myocardial tumour" EXACT OMO:0003005 [] synonym: "malignant myocardium neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of myocardium" EXACT [DOID:9299, MONDO:patterns/cancer, NCIT:C4569] synonym: "malignant neoplasm of the myocardium" EXACT [NCIT:C4569] synonym: "malignant tumor of myocardium" EXACT [NCIT:C4569] synonym: "malignant tumor of the myocardium" EXACT [NCIT:C4569] +synonym: "malignant tumour of myocardium" EXACT OMO:0003005 [] +synonym: "malignant tumour of the myocardium" EXACT OMO:0003005 [] synonym: "myocardium cancer" EXACT [MONDO:patterns/location] synonym: "tumor of myocardium" BROAD [DOID:9299, NCIT:C5349] +synonym: "tumour of myocardium" BROAD OMO:0003005 [] xref: DOID:9299 {source="MONDO:equivalentTo"} xref: NCIT:C4569 {source="MONDO:equivalentTo", source="DOID:9299"} xref: NCIT:C5349 {source="DOID:9299"} @@ -77616,10 +79925,13 @@ def: "A benign or malignant neoplasm that affects the nasal cavity. Representati synonym: "nasal cavity neoplasm" EXACT [NCIT:C4413] synonym: "nasal cavity neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "nasal cavity tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4413] +synonym: "nasal cavity tumour" EXACT OMO:0003005 [] synonym: "neoplasm of nasal cavity" EXACT [MONDO:patterns/neoplasm, NCIT:C4413] synonym: "neoplasm of the nasal cavity" EXACT [NCIT:C4413] synonym: "tumor of nasal cavity" EXACT [MONDO:patterns/neoplasm, NCIT:C4413] synonym: "tumor of the nasal cavity" EXACT [DOID:9310, NCIT:C4413] +synonym: "tumour of nasal cavity" EXACT OMO:0003005 [] +synonym: "tumour of the nasal cavity" EXACT OMO:0003005 [] xref: DOID:9310 {source="MONDO:equivalentTo"} xref: NCIT:C4413 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:9310"} xref: SCTID:126670003 {source="MONDO:equivalentTo", source="DOID:9310"} @@ -77659,6 +79971,7 @@ synonym: "blind spot area scotoma" EXACT [DOID:9335] synonym: "enlarged angioscotoma" EXACT [DOID:9335] synonym: "enlarged blind spot" EXACT [DOID:9335] synonym: "enlarged paracaecal scotoma" EXACT [DOID:9335] +synonym: "generalised visual field contraction or constriction" EXACT OMO:0003005 [] synonym: "generalized visual field contraction or constriction" EXACT [DOID:9335] synonym: "scotoma" EXACT [MONDO:ambiguous] synonym: "scotoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] @@ -78800,8 +81113,11 @@ def: "A rare neoplasm arising from the distal third of the esophagus. Morphologi synonym: "esophageal squamous papilloma" EXACT [NCIT:C5344] synonym: "esophagus squamous cell papilloma" EXACT [NCIT:C5344] synonym: "esophagus squamous papilloma" EXACT [MONDO:patterns/location] +synonym: "oesophagus squamous papilloma" EXACT OMO:0003005 [] synonym: "squamous cell papilloma of esophagus" EXACT [NCIT:C5344] +synonym: "squamous cell papilloma of oesophagus" EXACT OMO:0003005 [] synonym: "squamous cell papilloma of the esophagus" EXACT [NCIT:C5344] +synonym: "squamous cell papilloma of the oesophagus" EXACT OMO:0003005 [] xref: DOID:959 {source="MONDO:equivalentTo"} xref: NCIT:C5344 {source="MONDO:equivalentTo", source="DOID:959"} xref: UMLS:C1333467 {source="MONDO:equivalentTo", source="NCIT:C5344", source="DOID:959"} @@ -78841,7 +81157,9 @@ alt_id: MONDO:0006261 def: "Metastatic signet-ring cell carcinoma to the ovary. The primary site is the gastrointestinal tract or breast." [NCIT:C3153] synonym: "Krukenberg neoplasm" EXACT [DOID:9597, NCIT:C3153] synonym: "Krukenberg tumor" EXACT [DOID:9597, NCIT:C3153] +synonym: "Krukenberg tumour" EXACT OMO:0003005 [] synonym: "Krukenberg’s tumor" RELATED [GARD:0008627] +synonym: "Krukenberg’s tumour" RELATED OMO:0003005 [] xref: DOID:9597 {source="MONDO:equivalentTo"} xref: EFO:1000316 {source="MONDO:equivalentTo"} xref: MESH:D007725 {source="MONDO:equivalentTo", source="DOID:9597"} @@ -78899,7 +81217,9 @@ def: "A benign smooth muscle neoplasm arising from the lower part of the esophag synonym: "esophageal leiomyoma" EXACT [NCIT:C3866] synonym: "esophagus leiomyoma" EXACT [MONDO:patterns/location, NCIT:C3866] synonym: "leiomyoma of esophagus" EXACT [NCIT:C3866] +synonym: "leiomyoma of oesophagus" EXACT OMO:0003005 [] synonym: "leiomyoma of the esophagus" EXACT [NCIT:C3866] +synonym: "leiomyoma of the oesophagus" EXACT OMO:0003005 [] xref: DOID:960 {source="MONDO:equivalentTo"} xref: NCIT:C3866 {source="MONDO:equivalentTo", source="DOID:960"} xref: SCTID:276805005 {source="MONDO:equivalentTo", source="DOID:960"} @@ -78973,7 +81293,9 @@ def: "A non-metastasizing encapsulated neoplasm arising from nerves in the esoph synonym: "esophageal neurofibroma" EXACT [NCIT:C5704] synonym: "esophagus neurofibroma" EXACT [MONDO:patterns/location, NCIT:C5704] synonym: "neurofibroma of esophagus" EXACT [NCIT:C5704] +synonym: "neurofibroma of oesophagus" EXACT OMO:0003005 [] synonym: "neurofibroma of the esophagus" EXACT [NCIT:C5704] +synonym: "oesophagus neurofibroma" EXACT OMO:0003005 [] xref: DOID:961 {source="MONDO:equivalentTo"} xref: NCIT:C5704 {source="MONDO:equivalentTo", source="DOID:961"} xref: UMLS:C1333463 {source="MONDO:equivalentTo", source="DOID:961", source="NCIT:C5704"} @@ -79380,10 +81702,15 @@ id: MONDO:0004860 name: vitreous disorder def: "A disease involving the vitreous humor." [https://orcid.org/0000-0002-6601-2165] synonym: "disease of vitreous humor" EXACT [MONDO:patterns/location_top] +synonym: "disease of vitreous humour" EXACT OMO:0003005 [] synonym: "disease or disorder of vitreous humor" EXACT [] +synonym: "disease or disorder of vitreous humour" EXACT OMO:0003005 [] synonym: "disorder of vitreous humor" EXACT [MONDO:patterns/location_top] +synonym: "disorder of vitreous humour" EXACT OMO:0003005 [] synonym: "vitreous humor disease" EXACT [MONDO:patterns/location] synonym: "vitreous humor disease or disorder" EXACT [MONDO:patterns/location] +synonym: "vitreous humour disease" EXACT OMO:0003005 [] +synonym: "vitreous humour disease or disorder" EXACT OMO:0003005 [] xref: DOID:9720 {source="MONDO:equivalentTo"} xref: ICD10CM:H43.3 {source="DOID:9720"} xref: ICD10CM:H43.39 {source="DOID:9720"} @@ -79556,7 +81883,9 @@ replaced_by: MONDO:0006626 [Term] id: MONDO:0004871 name: perianal hematoma +synonym: "external thrombosed haemorrhoids" EXACT OMO:0003005 [] synonym: "external thrombosed hemorrhoids" EXACT [DOID:9745] +synonym: "Thrombosed external haemorrhoids" EXACT OMO:0003005 [] synonym: "Thrombosed external hemorrhoids" EXACT [DOID:9745] xref: DOID:9745 {source="MONDO:equivalentTo"} xref: ICD10CM:K64.5 {source="DOID:9745"} @@ -79573,6 +81902,7 @@ is_a: MONDO:0004872 {source="DOID:9745"} ! hemorrhoid id: MONDO:0004872 name: hemorrhoid def: "Dilated veins in the anal canal." [NCIT:C26792] +synonym: "Haemorrhoids" EXACT OMO:0003005 [] synonym: "hemorrhoid" EXACT [NCIT:C26792] synonym: "hemorrhoidal disease" EXACT [DOID:9746] synonym: "Hemorrhoids" EXACT [NCIT:C26792] @@ -80190,6 +82520,8 @@ def: "A vascular compression syndrome attributed to celiac trunk compression by synonym: "celiac access syndrome" RELATED [GARD:0012308] synonym: "celiac artery compression syndrome" EXACT [DOID:9892, ICD9CM:447.4] synonym: "celiac artery stenosis from compression by median arcuate ligament of diaphragm" EXACT [OMIM:116870] +synonym: "coeliac access syndrome" RELATED OMO:0003005 [] +synonym: "coeliac artery compression syndrome" EXACT OMO:0003005 [] synonym: "Harjola-Marable syndrome" EXACT [DOID:9892] synonym: "Marable's syndrome" EXACT [DOID:9892] synonym: "median arcuate ligament syndrome" EXACT [DOID:9892] @@ -80442,6 +82774,7 @@ is_a: MONDO:0004930 {source="DOID:9948"} ! steroid-induced glaucoma [Term] id: MONDO:0004932 name: null-cell leukemia +synonym: "null cell acute lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "null cell acute lymphoblastic leukemia" EXACT [DOID:9954] xref: DOID:9954 {source="MONDO:equivalentTo"} xref: SCTID:277574007 {source="DOID:9954", source="MONDO:equivalentTo"} @@ -80713,27 +83046,39 @@ id: MONDO:0004948 name: B-cell chronic lymphocytic leukemia def: "B-cell chronic lymphocytic leukemia (B-CLL) is a type of B-cell non-Hodgkin lymphoma, and the most common form of leukemia in Western countries, affecting elderly adults (mean age of 67 and 72 years) with a slight male predominance (1.7:1), and characterized by a highly variable clinical presentation that can include asymptomatic disease or non-specific B-symptoms such as unintentional weight loss, severe fatigue, fever (without evidence of infection), and night sweats as well as cervical lymphadenopathy, splenomegaly and frequent infections. Some patients can also develop autoimmune complications such as autoimmune hemolytic anemia or immune thrombocytopenia. The clinical course is extremely heterogeneous with survival ranging from a few months to several decades." [Orphanet:67038] subset: ordo_disease {source="Orphanet:67038"} +synonym: "B cell chronic lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "B cell chronic lymphocytic leukemia" EXACT [NCIT:C3163] synonym: "B cell CLL" EXACT [NCIT:C3163] +synonym: "B cell lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "B cell lymphocytic leukemia" EXACT [NCIT:C3163] synonym: "B-cell chronic lymphocytic leukemia" EXACT [DOID:1040, NCIT:C3163] +synonym: "B-cell chronic lymphogenous leukaemia" EXACT OMO:0003005 [] synonym: "B-cell chronic lymphogenous leukemia" EXACT [NCIT:C3163] +synonym: "B-cell chronic lymphoid leukaemia" EXACT OMO:0003005 [] synonym: "B-cell chronic lymphoid leukemia" EXACT [DOID:1040, NCIT:C3163, Orphanet:67038] synonym: "B-cell CLL" EXACT [NCIT:C3163] +synonym: "B-cell lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "B-cell lymphocytic leukemia" EXACT [NCIT:C3163] synonym: "B-CLL" EXACT [Orphanet:67038] synonym: "BCLL" EXACT ABBREVIATION [NCIT:C3163] +synonym: "chronic B-cell lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "chronic B-cell lymphocytic leukemia" EXACT [NCIT:C3163] +synonym: "chronic lymphatic leukaemia" EXACT OMO:0003005 [] synonym: "chronic lymphatic leukemia" EXACT [DOID:1040, NCIT:C3163] +synonym: "chronic lymphocytic leukaemia" EXACT OMO:0003005 [] +synonym: "chronic lymphocytic leukaemia (CLL)" EXACT OMO:0003005 [] synonym: "chronic lymphocytic leukemia" EXACT [NCIT:C3163] synonym: "chronic lymphocytic leukemia (CLL)" EXACT [NCIT:C3163] synonym: "chronic lymphocytic leukemia, NOS" RELATED EXCLUDE [NCIT:C3163] +synonym: "chronic lymphogenous leukaemia" EXACT OMO:0003005 [] synonym: "chronic lymphogenous leukemia" EXACT [NCIT:C3163] synonym: "CLL" EXACT ABBREVIATION [DOID:1040, MONDO:Lexical, NCIT:C3163, OMIM:151400] +synonym: "hematopoeitic - chronic lymphocytic leukaemia (CLL)" EXACT OMO:0003005 [] synonym: "hematopoeitic - chronic lymphocytic leukemia (CLL)" EXACT [NCIT:C3163] synonym: "leukemia, chronic lymphatic" RELATED [OMIM:151400] synonym: "leukemia, chronic LYMPHOCYTIC" RELATED [MONDO:Lexical, OMIM:151400] synonym: "leukemia, lymphocytic, chronic" RELATED [GARD:0006104] +synonym: "lymphoplasmacytic leukaemia" EXACT OMO:0003005 [] synonym: "lymphoplasmacytic leukemia" EXACT [DOID:1040] synonym: "small lymphocytic lymphoma" RELATED [Orphanet:67038] xref: DOID:1040 {source="MONDO:equivalentTo", source="EFO:0000095"} @@ -80807,6 +83152,7 @@ synonym: "gastric fundus cancer" NARROW [DOID:10538] synonym: "malignant fundus of stomach neoplasm" NARROW [MONDO:patterns/cancer] synonym: "malignant neoplasm of fundus of stomach" NARROW [DOID:10538, ICD9CM:151.3, MONDO:patterns/cancer] synonym: "malignant tumor of fundus of stomach" NARROW [DOID:10538] +synonym: "malignant tumour of fundus of stomach" NARROW OMO:0003005 [] synonym: "stomach cancer" BROAD [NCIT:C4911] synonym: "stomach carcinoma" EXACT [MONDO:patterns/location, NCIT:C4911] xref: DOID:10538 {source="MONDO:equivalentTo"} @@ -81089,12 +83435,12 @@ subset: ordo_group_of_disorders {source="Orphanet:98282"} synonym: "plasma cell disorder" RELATED [] synonym: "plasma cell dyscrasia" EXACT [NCIT:C4665] synonym: "plasma cell neoplasm" EXACT [NCIT:C4665] -synonym: "plasma cell tumor" EXACT [DOID:6536] -synonym: "plasma cell tumor" EXACT [MONDO:0020079, NCIT:C4665] +synonym: "plasma cell tumor" EXACT [DOID:6536, MONDO:0020079, NCIT:C4665] synonym: "plasma cell tumor, malignant" EXACT [NCIT:C4665] +synonym: "plasma cell tumour" EXACT OMO:0003005 [] synonym: "plasmacytic neoplasm" EXACT [NCIT:C4665] synonym: "plasmacytic tumor" EXACT [DOID:6536, NCIT:C4665] -synonym: "plasmacytic tumor" EXACT [NCIT:C4665] +synonym: "plasmacytic tumour" EXACT OMO:0003005 [] xref: DOID:6536 {source="EFO:0000200", source="MONDO:equivalentTo"} xref: EFO:0000200 {source="DOID:6536", source="MONDO:equivalentTo"} xref: ICD9:238.6 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -81153,19 +83499,30 @@ relationship: part_of_progression_of_disease MONDO:0002447 ! endometrial carcino id: MONDO:0004963 name: T-cell acute lymphoblastic leukemia def: "Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females. (WHO, 2001)" [NCIT:C3183] +synonym: "acute T cell leukaemia" BROAD OMO:0003005 [] synonym: "acute T cell leukemia" BROAD [NCIT:C3183] +synonym: "acute T cell lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "acute T cell lymphoblastic leukemia" EXACT [NCIT:C3183] +synonym: "acute T cell lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "acute T cell lymphocytic leukemia" EXACT [NCIT:C3183] +synonym: "acute T-cell leukaemia" EXACT OMO:0003005 [] synonym: "acute T-cell leukemia" EXACT [NCIT:C3183] +synonym: "acute T-cell lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "acute T-cell lymphoblastic leukemia" EXACT [NCIT:C3183] +synonym: "acute T-cell lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "acute T-cell lymphocytic leukemia" EXACT [NCIT:C3183] +synonym: "precursor T-lymphoblastic leukaemia" EXACT OMO:0003005 [] +synonym: "precursor T-lymphoblastic leukaemia (T-cell ALL)" EXACT OMO:0003005 [] synonym: "precursor T-lymphoblastic leukemia" EXACT [NCIT:C3183] synonym: "precursor T-lymphoblastic leukemia (T-cell ALL)" EXACT [NCIT:C3183] +synonym: "T acute lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "T acute lymphoblastic leukemia" EXACT [NCIT:C3183] synonym: "T-ALL" EXACT [NCIT:C3183] synonym: "T-cell acute lymphoblastic leukemia" EXACT [NCIT:C3183] +synonym: "T-cell acute lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "T-cell acute lymphocytic leukemia" EXACT [NCIT:C3183] synonym: "T-cell ALL" EXACT [NCIT:C3183] +synonym: "T-cell type acute leukaemia" EXACT OMO:0003005 [] synonym: "T-cell type acute leukemia" EXACT [NCIT:C3183] xref: DOID:0050523 {source="MONDO:relatedTo", source="EFO:0000209"} xref: DOID:5603 {source="MONDO:relatedTo", source="EFO:0000209"} @@ -81208,6 +83565,7 @@ synonym: "acinar cell carcinoma (morphologic abnormality)" EXACT [DOID:3025] synonym: "acinic cell adenocarcinoma" EXACT [NCIT:C3768] synonym: "acinic cell carcinoma" EXACT [DOID:3025, NCIT:C3768] synonym: "acinic cell tumor" RELATED [GARD:0008568] +synonym: "acinic cell tumour" RELATED OMO:0003005 [] synonym: "carcinoma of acinar cell" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma, acinar cell, malignant" EXACT [NCIT:C3768] xref: DOID:3025 {source="MONDO:equivalentTo", source="EFO:0000216"} @@ -81270,23 +83628,32 @@ def: "Leukemia with an acute onset, characterized by the presence of lymphoblast subset: disease_grouping subset: gard_rare subset: ordo_group_of_disorders {source="Orphanet:513"} +synonym: "acute lymphoblastic leukaemia (ALL)" EXACT OMO:0003005 [] +synonym: "acute lymphoblastic leukaemia (disease)" EXACT OMO:0003005 [] synonym: "acute lymphoblastic leukemia" EXACT [DOID:9952, MONDO:ambiguous, NCIT:C3167] synonym: "acute lymphoblastic leukemia (ALL)" EXACT [NCIT:C3167] synonym: "acute lymphoblastic leukemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "acute lymphoblastic leukemia, NOS" RELATED EXCLUDE [NCIT:C3167] synonym: "acute lymphoblastic leukemia/lymphoma" EXACT [Orphanet:513] +synonym: "acute lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "acute lymphocytic leukemia" EXACT [GARD:0000522, NCIT:C3167, Orphanet:513] -synonym: "acute lymphocytic leukemia" EXACT [NCIT:C3167] synonym: "acute lymphocytic leukemias" EXACT [NCIT:C3167] +synonym: "acute lymphogenous leukaemia" EXACT OMO:0003005 [] synonym: "acute lymphogenous leukemia" EXACT [NCIT:C3167] +synonym: "acute lymphoid leukaemia" EXACT OMO:0003005 [] synonym: "acute lymphoid leukemia" EXACT [NCIT:C3167] synonym: "ALL" EXACT ABBREVIATION [GARD:0000522, NCIT:C3167, Orphanet:513] +synonym: "ALL - acute lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "ALL - acute lymphocytic leukemia" EXACT [NCIT:C3167] synonym: "leukemia, lymphoblastic, malignant" EXACT [NCIT:C3167] +synonym: "lymphoblastic leukaemia" BROAD OMO:0003005 [] synonym: "lymphoblastic leukemia" BROAD [NCIT:C3167] synonym: "lymphoblastic leukemia, acute" EXACT [MONDO:patterns/acute] +synonym: "precursor cell lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "precursor cell lymphoblastic leukemia" EXACT [NCIT:C3167] +synonym: "precursor Lymphoblasic leukaemia" EXACT OMO:0003005 [] synonym: "precursor Lymphoblasic leukemia" EXACT [NCIT:C3167] +synonym: "precursor lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "precursor lymphoblastic leukemia" EXACT [NCIT:C3167] xref: DOID:9952 {source="EFO:0000220", source="MONDO:equivalentTo"} xref: EFO:0000220 {source="DOID:9952", source="MONDO:equivalentTo"} @@ -81834,6 +84201,8 @@ def: "A benign or malignant, primary or metastatic neoplasm of the bladder. - 20 synonym: "bladder neoplasm" EXACT [https://orcid.org/0000-0002-6601-2165, NCIT:C2901] synonym: "bladder tumor" EXACT [NCIT:C2901] synonym: "bladder tumors" EXACT [NCIT:C2901] +synonym: "bladder tumour" EXACT OMO:0003005 [] +synonym: "bladder tumours" EXACT OMO:0003005 [] synonym: "neoplasm of bladder" EXACT [NCIT:C2901] synonym: "neoplasm of the bladder" EXACT [NCIT:C2901] synonym: "neoplasm of the urinary bladder" EXACT [NCIT:C2901] @@ -81842,11 +84211,17 @@ synonym: "tumor of bladder" EXACT [NCIT:C2901] synonym: "tumor of the bladder" EXACT [NCIT:C2901] synonym: "tumor of the urinary bladder" EXACT [NCIT:C2901] synonym: "tumor of urinary bladder" EXACT [MONDO:patterns/neoplasm, NCIT:C2901] +synonym: "tumour of bladder" EXACT OMO:0003005 [] +synonym: "tumour of the bladder" EXACT OMO:0003005 [] +synonym: "tumour of the urinary bladder" EXACT OMO:0003005 [] +synonym: "tumour of urinary bladder" EXACT OMO:0003005 [] synonym: "urinary bladder neoplasm" EXACT [NCIT:C2901] synonym: "urinary bladder neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "urinary bladder neoplasms" EXACT [NCIT:C2901] synonym: "urinary bladder tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C2901] synonym: "urinary bladder tumors" EXACT [NCIT:C2901] +synonym: "urinary bladder tumour" EXACT OMO:0003005 [] +synonym: "urinary bladder tumours" EXACT OMO:0003005 [] xref: EFO:0000294 {source="MONDO:equivalentTo"} xref: ICD9:239.4 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D001749 {source="EFO:0000294"} @@ -81908,6 +84283,7 @@ id: MONDO:0004990 name: breast tumor luminal A or B def: "Subsets of breast carcinoma defined by expression of genes characteristic of luminal epithelial cells." [NCIT:C53554, NCIT:C53555] synonym: "breast tumor luminal" EXACT [DOID:0060548] +synonym: "breast tumour luminal" EXACT OMO:0003005 [] synonym: "luminal breast cancer" EXACT [DOID:0060548] synonym: "luminal breast carcinoma" RELATED [DOID:0060548] xref: DOID:0060548 {source="MONDO:equivalentTo"} @@ -81962,6 +84338,7 @@ synonym: "malignant neoplasm" EXACT [DOID:162, NCIT:C9305] synonym: "malignant neoplasm (disease)" EXACT [] synonym: "malignant neoplastic disease" EXACT [NCIT:C9305] synonym: "malignant tumor" EXACT [DOID:162, NCIT:C9305] +synonym: "malignant tumour" EXACT OMO:0003005 [] synonym: "MT" RELATED ABBREVIATION [ONCOTREE:MT] synonym: "neoplasm (disease), malignant" EXACT [MONDO:patterns/malignant] synonym: "neoplasm, malignant" EXACT [NCIT:C9305] @@ -82014,6 +84391,7 @@ synonym: "epithelioma" BROAD [DOID:305] synonym: "epithelioma malignant" EXACT [NCIT:C2916] synonym: "malignant epithelial neoplasm" EXACT [NCIT:C2916] synonym: "malignant epithelial tumor" EXACT [NCIT:C2916] +synonym: "malignant epithelial tumour" EXACT OMO:0003005 [] synonym: "malignant epithelioma" EXACT [DOID:305, NCIT:C2916, NCIT:C6927] synonym: "Other carcinoma" EXACT [NCIT:C2916] xref: CSP:2000-1867 {source="DOID:305"} @@ -82133,19 +84511,28 @@ intersection_of: disease_has_location UBERON:0004535 ! cardiovascular system id: MONDO:0004996 name: childhood acute myeloid leukemia def: "Acute myeloid leukemia occurring in childhood." [NCIT:C9160] +synonym: "acute myeloid leukaemia (AML)" BROAD OMO:0003005 [] +synonym: "acute myeloid leukaemia of childhood" EXACT OMO:0003005 [] synonym: "acute myeloid leukemia (AML)" BROAD [NCIT:C9160] synonym: "acute myeloid leukemia of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] +synonym: "childhood acute granulocytic leukaemia" EXACT OMO:0003005 [] synonym: "childhood acute granulocytic leukemia" EXACT [NCIT:C9160] +synonym: "childhood acute myeloblastic leukaemia" EXACT OMO:0003005 [] synonym: "childhood acute myeloblastic leukemia" EXACT [NCIT:C9160] +synonym: "childhood acute myelocytic leukaemia" EXACT OMO:0003005 [] synonym: "childhood acute myelocytic leukemia" EXACT [NCIT:C9160] +synonym: "childhood acute myelogenous leukaemia" EXACT OMO:0003005 [] synonym: "childhood acute myelogenous leukemia" EXACT [NCIT:C9160] -synonym: "childhood acute myeloid leukemia" EXACT [DOID:0070323] -synonym: "childhood acute myeloid leukemia" EXACT [NCIT:C9160] +synonym: "childhood acute myeloid leukemia" EXACT [DOID:0070323, NCIT:C9160] synonym: "childhood AML" EXACT [NCIT:C9160] +synonym: "paediatric acute myeloblastic leukaemia" EXACT OMO:0003005 [] +synonym: "paediatric acute myelocytic leukaemia" EXACT OMO:0003005 [] +synonym: "paediatric acute myelogenous leukaemia" EXACT OMO:0003005 [] +synonym: "paediatric acute myeloid leukaemia" EXACT OMO:0003005 [] +synonym: "paediatric AML" EXACT OMO:0003005 [] synonym: "pediatric acute myeloblastic leukemia" EXACT [NCIT:C9160] synonym: "pediatric acute myelocytic leukemia" EXACT [NCIT:C9160] synonym: "pediatric acute myelogenous leukemia" EXACT [NCIT:C9160] -synonym: "pediatric acute myeloid leukemia" EXACT [DOID:0070323] synonym: "pediatric acute myeloid leukemia" EXACT [DOID:0070323, MONDO:patterns/childhood, NCIT:C9160] synonym: "pediatric AML" EXACT [NCIT:C9160] xref: DOID:0070323 {source="MONDO:equivalentTo"} @@ -82338,6 +84725,7 @@ synonym: "conventional (clear cell) renal cell adenocarcinoma" EXACT [NCIT:C4033 synonym: "conventional (clear cell) renal cell carcinoma" EXACT [DOID:4467, MTH:NOCODE, NCIT:C4033] synonym: "conventional renal cell carcinoma" EXACT [DOID:4467, NCIT:C4033] synonym: "Grawitz tumor" EXACT DEPRECATED [NCIT:C4033] +synonym: "Grawitz tumour" EXACT OMO:0003005 [] synonym: "hypernephroma" RELATED DEPRECATED [NCIT:C4033] synonym: "kidney clear cell adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C4033] synonym: "kidney clear cell carcinoma" EXACT [NCIT:C4033] @@ -82375,6 +84763,8 @@ synonym: "clear cell sarcoma - kidney" EXACT [NCIT:C4264] synonym: "clear cell sarcoma of kidney" EXACT [DOID:4880, MONDO:0018707, NCIT:C4264] synonym: "clear cell sarcoma of the kidney" EXACT [NCIT:C4264] synonym: "kidney clear cell sarcoma" EXACT [MONDO:patterns/location, NCIT:C4264] +synonym: "paediatric kidney clear cell sarcoma" EXACT OMO:0003005 [] +synonym: "paediatric renal clear cell sarcoma" EXACT OMO:0003005 [] synonym: "pediatric kidney clear cell sarcoma" EXACT [NCIT:C4264] synonym: "pediatric renal clear cell sarcoma" EXACT [DOID:4880, NCIT:C4264, NCIT:C6564] synonym: "renal clear cell sarcoma" EXACT [DOID:4880, NCIT:C4264] @@ -82573,6 +84963,7 @@ synonym: "Crohn's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO synonym: "Crohn's disease of colon" EXACT [DOID:8778] synonym: "Crohn's disease of large bowel" EXACT [DOID:8778, MTH:NOCODE] synonym: "granulomatous colitis" EXACT [DOID:8778, NCIT:C37262] +synonym: "paediatric Crohn's disease" EXACT OMO:0003005 [] synonym: "pediatric Crohn's disease" EXACT [DOID:8778, MESH:C536215] synonym: "regional enteritis" EXACT [NCIT:C2965] xref: DOID:8778 {source="EFO:0000384", source="MONDO:equivalentTo"} @@ -83060,12 +85451,16 @@ name: esophageal adenocarcinoma def: "A malignant tumor with glandular differentiation arising predominantly from Barrett mucosa in the lower third of the esophagus. Rare examples of esophageal adenocarcinoma deriving from ectopic gastric mucosa in the upper esophagus have also been reported. Grossly, esophageal adenocarcinomas are similar to esophageal squamous cell carcinomas. Microscopically, adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. The prognosis is poor." [NCIT:C4025] subset: ordo_disease {source="Orphanet:99976"} synonym: "adenocarcinoma - esophagus" EXACT [NCIT:C4025] +synonym: "adenocarcinoma - oesophagus" EXACT OMO:0003005 [] synonym: "adenocarcinoma of esophagus" EXACT [DOID:4914, MONDO:0020565, NCIT:C4025] +synonym: "adenocarcinoma of oesophagus" EXACT OMO:0003005 [] synonym: "adenocarcinoma of the esophagus" EXACT [NCIT:C4025] +synonym: "adenocarcinoma of the oesophagus" EXACT OMO:0003005 [] synonym: "esophageal adenocarcinoma" EXACT [NCIT:C4025, Orphanet:99976] synonym: "esophagus adenocarcinoma" EXACT [MONDO:0003201, MONDO:patterns/location, NCIT:C4025] synonym: "oesophageal adenocarcinoma" EXACT [DOID:4914] synonym: "oesophageal adenocarcinoma NOS" RELATED EXCLUDE [DOID:4914, NCIT:C4025] +synonym: "oesophagus adenocarcinoma" EXACT OMO:0003005 [] xref: DOID:4914 {source="MONDO:equivalentTo", source="EFO:0000478"} xref: EFO:0000478 {source="MONDO:equivalentTo"} xref: ICD10CM:C15.5 {source="Orphanet:99976/btnt", source="Orphanet:99976"} @@ -83136,6 +85531,11 @@ synonym: "fetal growth retardation" EXACT [NCIT:C114875] synonym: "fetal SGA" EXACT [NCIT:C114875] synonym: "fetal small for gestational Age" EXACT [NCIT:C114875] synonym: "fetus small for gestational Age" EXACT [NCIT:C114875] +synonym: "foetal Growth retardation" EXACT OMO:0003005 [] +synonym: "foetal growth retardation" EXACT OMO:0003005 [] +synonym: "foetal SGA" EXACT OMO:0003005 [] +synonym: "foetal small for gestational Age" EXACT OMO:0003005 [] +synonym: "foetus small for gestational Age" EXACT OMO:0003005 [] synonym: "intrauterine Growth restriction" EXACT [NCIT:C114875] synonym: "intrauterine Growth retardation" EXACT [NCIT:C114875] synonym: "IUGR" EXACT ABBREVIATION [NCIT:C114875] @@ -83422,11 +85822,15 @@ synonym: "germ cell cancer" RELATED [DOID:2994] synonym: "germ cell neoplasm" EXACT [DOID:2994, NCIT:C3708] synonym: "germ cell tumor" EXACT [DOID:2994, NCIT:C3708] synonym: "germ cells tumors" RELATED [GARD:0013022] +synonym: "germ cells tumours" RELATED OMO:0003005 [] synonym: "malignant tumor of the germ cell" RELATED EXCLUDE [DOID:2994] +synonym: "malignant tumour of the germ cell" RELATED OMO:0003005 [] synonym: "neoplasm of germ cell" EXACT [NCIT:C3708] synonym: "neoplasm of the germ cell" EXACT [NCIT:C3708] synonym: "tumor of germ cell" EXACT [NCIT:C3708] synonym: "tumor of the germ cell" EXACT [NCIT:C3708] +synonym: "tumour of germ cell" EXACT OMO:0003005 [] +synonym: "tumour of the germ cell" EXACT OMO:0003005 [] xref: DOID:2994 {source="MONDO:equivalentTo", source="EFO:0000514"} xref: DOID:3304 {source="EFO:0000514"} xref: DOID:688 {source="EFO:0000514", source="MONDO:directSiblingOf"} @@ -83658,15 +86062,25 @@ synonym: "Beta cell tumor" EXACT [NCIT:C3140] synonym: "Beta cell tumor of pancreas" EXACT [NCIT:C3140] synonym: "Beta cell tumor of the pancreas" EXACT [NCIT:C3140] synonym: "beta cell tumor of the pancreas" EXACT [NCIT:C3140] +synonym: "Beta cell tumour" EXACT OMO:0003005 [] +synonym: "Beta cell tumour of pancreas" EXACT OMO:0003005 [] +synonym: "Beta cell tumour of the pancreas" EXACT OMO:0003005 [] +synonym: "beta cell tumour of the pancreas" EXACT OMO:0003005 [] synonym: "insulin-producing islet cell tumor" EXACT [NCIT:C3140] +synonym: "insulin-producing islet cell tumour" EXACT OMO:0003005 [] synonym: "insulin-producing tumor of islet cells" EXACT [NCIT:C3140] synonym: "insulin-producing tumor of the islet cells" EXACT [NCIT:C3140] +synonym: "insulin-producing tumour of islet cells" EXACT OMO:0003005 [] +synonym: "insulin-producing tumour of the islet cells" EXACT OMO:0003005 [] synonym: "pancreatic Beta cell tumor" EXACT [NCIT:C3140] +synonym: "pancreatic Beta cell tumour" EXACT OMO:0003005 [] synonym: "pancreatic insulin producing neoplasm" EXACT [NCIT:C3140] synonym: "pancreatic insulin producing NET" EXACT [NCIT:C3140] synonym: "pancreatic insulin producing tumor" EXACT [NCIT:C3140] +synonym: "pancreatic insulin producing tumour" EXACT OMO:0003005 [] synonym: "pancreatic insulin-producing neuroendocrine tumor" EXACT [NCIT:C3140] synonym: "pancreatic insulin-producing tumor" EXACT [NCIT:C3140] +synonym: "pancreatic insulin-producing tumour" EXACT OMO:0003005 [] xref: ICDO:8151/0 {source="NCIT:C3140"} xref: ICDO:8151/1 {source="NCIT:C3140"} xref: NCIT:C3140 {source="MONDO:equivalentTo"} @@ -83830,6 +86244,7 @@ synonym: "Kaposi's sarcoma of gastrointestinal sites" NARROW [DOID:8632] synonym: "Kaposi's sarcoma of heart" NARROW [DOID:8632] synonym: "Kaposi's sarcoma of lung" EXACT [DOID:8632] synonym: "Kaposi's sarcoma of lymph nodes" NARROW [DOID:8632] +synonym: "Kaposi's sarcoma of oesophagus" NARROW OMO:0003005 [] synonym: "Kaposi's sarcoma of palate" EXACT [DOID:8632] synonym: "Kaposi's sarcoma of penis" NARROW [DOID:8632] synonym: "Kaposi's sarcoma of skin" NARROW [DOID:8632] @@ -83957,6 +86372,8 @@ id: MONDO:0005059 name: leukemia def: "A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood. Leukemias are classified as acute or chronic based on the degree of cellular differentiation and the predominant cell type present. Leukemia is usually associated with anemia, fever, hemorrhagic episodes, and splenomegaly. Common leukemias include acute myeloid leukemia, chronic myelogenous leukemia, acute lymphoblastic or precursor lymphoblastic leukemia, and chronic lymphocytic leukemia. Treatment is vital to patient survival; untreated, the natural course of acute leukemias is normally measured in weeks or months, while that of chronic leukemias is more often measured in months or years." [NCIT:C3161] synonym: "blood (leukemia)" EXACT [NCIT:C3161] +synonym: "leukaemia (disease)" EXACT OMO:0003005 [] +synonym: "leukaemia NOS" RELATED OMO:0003005 [] synonym: "leukemia" EXACT [MONDO:ambiguous, NCIT:C3161] synonym: "leukemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "leukemia NOS" RELATED EXCLUDE [NCIT:C3161] @@ -84252,6 +86669,8 @@ synonym: "neoplastic growth" EXACT [NCIT:C3262] synonym: "other neoplasm" NARROW [NCIT:C3262] synonym: "tumor" EXACT [NCIT:C3262] synonym: "tumor disease" EXACT [] +synonym: "tumour" EXACT OMO:0003005 [] +synonym: "tumour disease" EXACT OMO:0003005 [] xref: DOID:14566 {source="MONDO:equivalentTo"} xref: EFO:0000616 {source="MONDO:equivalentTo"} xref: HP:0002664 {source="MONDO:otherHierarchy"} @@ -84562,12 +86981,15 @@ subset: ordo_disease {source="Orphanet:275555"} synonym: "gestational hypertension" EXACT [DOID:10591] synonym: "hypertension induced by pregnancy" EXACT [DOID:10591] synonym: "pre-eclampsia" EXACT [DOID:10591] +synonym: "pre-eclamptic toxaemia" EXACT OMO:0003005 [] synonym: "pre-eclamptic toxemia" EXACT [DOID:10591] synonym: "preeclampsia" EXACT [DOID:10591] synonym: "preeclampsia/eclampsia" EXACT [DOID:10591] synonym: "pregnancy associated hypertension" EXACT [DOID:10591, NCIT:C4371] +synonym: "pregnancy toxaemia" EXACT OMO:0003005 [] synonym: "pregnancy toxemia" EXACT [DOID:10591] synonym: "proteinuric hypertension of pregnancy" EXACT [DOID:10591] +synonym: "toxaemia of pregnancy" RELATED OMO:0003005 [] synonym: "toxemia of pregnancy" RELATED [DOID:10591] xref: DOID:10591 {source="MONDO:equivalentTo", source="EFO:0000668"} xref: EFO:0000668 {source="MONDO:equivalentTo"} @@ -84665,6 +87087,7 @@ name: mental disorder def: "A disease that has its basis in the disruption of mental process." [MONDO:patterns/basis_in_disruption_of_process] synonym: "disorder of mental process" EXACT [MONDO:patterns/basis_in_disruption_of_process] synonym: "mental or behavioral disorder" EXACT [DOID:2468] +synonym: "mental or behavioural disorder" EXACT OMO:0003005 [] synonym: "mental process disease" EXACT [MONDO:design_pattern] xref: DOID:150 {source="MONDO:relatedTo", source="EFO:0000677"} xref: EFO:0000677 {source="DOID:2468", source="MONDO:equivalentTo"} @@ -84820,6 +87243,7 @@ synonym: "sarcoma of soft tissue and bone" EXACT [NCIT:C9118] synonym: "sarcoma of the soft tissue and bone" EXACT [NCIT:C9118] synonym: "sarcoma, malignant" EXACT [NCIT:C9118] synonym: "tumor of soft tissue and skeleton" RELATED [DOID:1115, NCIT:C3810] +synonym: "tumour of soft tissue and skeleton" RELATED OMO:0003005 [] xref: DOID:1115 {source="EFO:0000691", source="MONDO:equivalentTo"} xref: EFO:0000691 {source="MONDO:equivalentTo"} xref: ICD10CM:C49 {source="DOID:1115"} @@ -85045,8 +87469,10 @@ synonym: "epidermoid carcinoma" EXACT [DOID:1749, NCIT:C2929] synonym: "epidermoid cell cancer" EXACT [NCIT:C2929] synonym: "malignant epidermoid cell neoplasm" EXACT [NCIT:C2929] synonym: "malignant epidermoid cell tumor" EXACT [NCIT:C2929] +synonym: "malignant epidermoid cell tumour" EXACT OMO:0003005 [] synonym: "malignant squamous cell neoplasm" EXACT [NCIT:C2929] synonym: "malignant squamous cell tumor" EXACT [DOID:1749, NCIT:C2929, NCIT:C4971] +synonym: "malignant squamous cell tumour" EXACT OMO:0003005 [] synonym: "squamous carcinoma" EXACT [DOID:1749, NCIT:C2929] synonym: "squamous cell cancer" EXACT [DOID:1749, NCIT:C2929] synonym: "squamous cell carcinoma" EXACT [NCIT:C2929] @@ -85128,6 +87554,7 @@ relationship: disease_has_major_feature HP:0001297 ! Stroke id: MONDO:0005099 name: subarachnoid hemorrhage def: "Intracranial hemorrhage into the subarachnoid space." [NCIT:P378] +synonym: "subarachnoid haemorrhage (disease)" EXACT OMO:0003005 [] synonym: "subarachnoid hemorrhage" EXACT [MONDO:ambiguous] synonym: "subarachnoid hemorrhage (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: EFO:0000713 {source="MONDO:equivalentTo"} @@ -85255,6 +87682,7 @@ subset: ordo_histopathological_subtype {source="Orphanet:99971"} synonym: "ALT" EXACT ABBREVIATION [Orphanet:99971] synonym: "atypical lipoma" EXACT [Orphanet:99971] synonym: "atypical lipomatous tumor" BROAD [Orphanet:99971] +synonym: "atypical lipomatous tumour" BROAD OMO:0003005 [] synonym: "WDLS" EXACT ABBREVIATION [Orphanet:99971] synonym: "well differentiated liposarcoma" EXACT [NCIT:C4250] synonym: "well differentiated liposarcoma of deep soft tissue" EXACT [NCIT:C4250] @@ -85318,15 +87746,19 @@ id: MONDO:0005106 name: lipoma def: "A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue." [NCIT:C3192] synonym: "benign lipomatous tumor" RELATED EXCLUDE [DOID:3315] +synonym: "benign lipomatous tumour" RELATED OMO:0003005 [] synonym: "benign tumor of adipose tissue" EXACT [DOID:3315, NCIT:C4502] +synonym: "benign tumour of adipose tissue" EXACT OMO:0003005 [] synonym: "lipoma" EXACT [NCIT:C3192] synonym: "lipoma, benign" EXACT [NCIT:C3192] synonym: "lipomatosis, familial multiple" EXACT [DOID:3315] synonym: "lipomatous neoplasm" RELATED [DOID:3315] synonym: "lipomatous neoplasm (morphologic abnormality)" EXACT [DOID:3315] synonym: "lipomatous tumor" RELATED [DOID:3315, NCIT:C4248] +synonym: "lipomatous tumour" RELATED OMO:0003005 [] synonym: "multiple lipomatosis" NARROW [DOID:3315] synonym: "tumor of adipose tissue" RELATED EXCLUDE [DOID:3315] +synonym: "tumour of adipose tissue" RELATED OMO:0003005 [] xref: DOID:3315 {source="MONDO:equivalentTo", source="EFO:0000759"} xref: EFO:0000759 {source="MONDO:equivalentTo"} xref: ICD10CM:D17 {source="DOID:3315"} @@ -85890,6 +88322,7 @@ name: celiac disease def: "An autoimmune genetic disorder with an unknown pattern of inheritance that primarily affects the digestive tract. It is caused by intolerance to dietary gluten. Consumption of gluten protein triggers an immune response which damages small intestinal villi and prevents adequate absorption of nutrients. Clinical signs include abdominal cramping, diarrhea or constipation and weight loss. If untreated, the clinical course may progress to malnutrition, anemia, osteoporosis and an increased risk of intestinal malignancies. However, the prognosis is favorable with successful avoidance of gluten in the diet." [NCIT:C26714] synonym: "celiac disease" EXACT [DOID:10608, Orphanet:555] synonym: "celiac sprue" EXACT [DOID:10608, Orphanet:555] +synonym: "coeliac sprue" EXACT OMO:0003005 [] synonym: "gluten intolerance" EXACT [Orphanet:555] synonym: "gluten-induced enteropathy" EXACT [NCIT:C26714, Orphanet:555] synonym: "idiopathic steatorrhea" EXACT [DOID:10608, Orphanet:555] @@ -86629,14 +89062,19 @@ name: lymphoid neoplasm def: "A neoplasm composed of a lymphocytic cell population which is usually malignant (clonal) by molecular genetic and/or immunophenotypic analysis. Lymphocytic neoplasms include Hodgkin and non-Hodgkin lymphomas, acute and chronic lymphocytic leukemias, and plasma cell neoplasms." [NCIT:C7065] synonym: "lymphocytic and plasma cell neoplasm" EXACT [NCIT:C7065] synonym: "lymphocytic and plasma cell tumor" EXACT [NCIT:C7065] +synonym: "lymphocytic and plasma cell tumour" EXACT OMO:0003005 [] synonym: "lymphocytic and plasmacytic neoplasm" EXACT [NCIT:C7065] synonym: "lymphocytic neoplasm" EXACT [NCIT:C7065] synonym: "lymphocytic tumor" EXACT [NCIT:C7065] +synonym: "lymphocytic tumour" EXACT OMO:0003005 [] synonym: "lymphoid and plasma cell tumor" EXACT [NCIT:C7065] +synonym: "lymphoid and plasma cell tumour" EXACT OMO:0003005 [] synonym: "lymphoid and plasmacytic neoplasm" EXACT [NCIT:C7065] synonym: "lymphoid and plasmacytic tumor" EXACT [NCIT:C7065] +synonym: "lymphoid and plasmacytic tumour" EXACT OMO:0003005 [] synonym: "lymphoid neoplasm" EXACT [NCIT:C7065] synonym: "lymphoid tumor" EXACT [NCIT:C7065] +synonym: "lymphoid tumour" EXACT OMO:0003005 [] xref: EFO:0001642 {source="MONDO:equivalentTo"} xref: ICD9:200.7 {source="EFO:0001642"} xref: MESH:D016403 {source="EFO:0001642"} @@ -86781,6 +89219,7 @@ def: "A malignant mesenchymal fibroblastic neoplasm affecting the soft tissue an subset: gard_rare subset: ordo_disease {source="Orphanet:2030"} synonym: "fibrocytic tumor" BROAD [DOID:3355, NCIT:C7075] +synonym: "fibrocytic tumour" BROAD OMO:0003005 [] synonym: "fibrosarcoma" EXACT [MONDO:ambiguous, NCIT:C3043] synonym: "fibrosarcoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "fibrosarcoma (excluding infantile fibrosarcoma)" EXACT [NCIT:C3043] @@ -86822,7 +89261,9 @@ comment: Editor note: see https://github.com/NCI-Thesaurus/thesaurus-obo-edition synonym: "benign neoplasm" EXACT [NCIT:C3677] synonym: "benign neoplasm (disease)" EXACT [] synonym: "benign tumor" RELATED [NCIT:C3677] +synonym: "benign tumour" RELATED OMO:0003005 [] synonym: "benign unclassifiable tumor" RELATED [NCIT:C3677] +synonym: "benign unclassifiable tumour" RELATED OMO:0003005 [] synonym: "cell type benign neoplasm" RELATED [DOID:0060084] synonym: "neoplasm (disease), benign" EXACT [MONDO:patterns/benign] synonym: "neoplasm, benign" RELATED [NCIT:C3677] @@ -86910,6 +89351,7 @@ def: "Proliferation of myeloid cells originating from a primitive stem cell." [N synonym: "myeloid malignancy" EXACT [NCIT:C9290] synonym: "myeloid neoplasm" EXACT [NCIT:C9290] synonym: "myeloid tumor" EXACT [NCIT:C9290] +synonym: "myeloid tumour" EXACT OMO:0003005 [] synonym: "myeloma" RELATED EXCLUDE [DOID:0070004] xref: DOID:0070004 {source="MONDO:equivalentTo"} xref: EFO:0002427 {source="MONDO:equivalentTo"} @@ -87422,14 +89864,20 @@ synonym: "neoplasm of Thymus" EXACT [NCIT:C3412] synonym: "neoplasm of thymus" EXACT [MONDO:patterns/neoplasm] synonym: "thymic neoplasm" EXACT [NCIT:C3412] synonym: "thymic tumor" EXACT [MONDO:0015080, NCIT:C3412] +synonym: "thymic tumour" EXACT OMO:0003005 [] synonym: "THYMUS" RELATED ABBREVIATION [ONCOTREE:THYMUS] synonym: "Thymus neoplasm" EXACT [NCIT:C3412] synonym: "thymus neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "Thymus tumor" EXACT [NCIT:C3412] synonym: "thymus tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "Thymus tumour" EXACT OMO:0003005 [] +synonym: "thymus tumour" EXACT OMO:0003005 [] synonym: "tumor of the Thymus" EXACT [NCIT:C3412] synonym: "tumor of Thymus" EXACT [NCIT:C3412] synonym: "tumor of thymus" EXACT [MONDO:patterns/neoplasm] +synonym: "tumour of the Thymus" EXACT OMO:0003005 [] +synonym: "tumour of Thymus" EXACT OMO:0003005 [] +synonym: "tumour of thymus" EXACT OMO:0003005 [] xref: EFO:0002626 {source="MONDO:equivalentTo"} xref: ICD9:239.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C12433 {source="ONCOTREE:THYMUS"} @@ -87455,6 +89903,7 @@ synonym: "VIN" EXACT ABBREVIATION [NCIT:C4756] synonym: "vulva intraepithelial neoplasia" EXACT [NCIT:C4756] synonym: "vulval intraepithelial neoplasia" EXACT [NCIT:C4756] synonym: "vulvar intraepithelial tumor" EXACT [Orphanet:137583] +synonym: "vulvar intraepithelial tumour" EXACT OMO:0003005 [] xref: EFO:0002627 {source="MONDO:equivalentTo"} xref: ICD10CM:D07.1 {source="Orphanet:137583/ntbt", source="Orphanet:137583"} xref: NCIT:C4756 {source="MONDO:equivalentTo", source="EFO:0002627"} @@ -87687,6 +90136,7 @@ id: MONDO:0005211 name: ovarian serous adenocarcinoma def: "An adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia." [NCIT:C7550] synonym: "malignant ovarian serous tumor" RELATED EXCLUDE [DOID:5744] +synonym: "malignant ovarian serous tumour" RELATED OMO:0003005 [] synonym: "ovarian serous adenocarcinoma" EXACT [NCIT:C7550] synonym: "ovarian serous carcinoma" EXACT [MONDO:0000547, NCIT:C7550] synonym: "ovary serous adenocarcinoma" EXACT [MONDO:patterns/location] @@ -87956,24 +90406,37 @@ name: acute myeloid leukemia with minimal differentiation alt_id: MONDO:0020318 def: "An acute myeloid leukemia (AML) in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry. (WHO, 2001)" [NCIT:C8460] subset: ordo_disease {source="Orphanet:98832"} +synonym: "acute myeloblastic leukaemia with minimal differentiation" EXACT OMO:0003005 [] synonym: "acute myeloblastic leukemia with minimal differentiation" EXACT [NCIT:C8460] synonym: "acute myeloblastic leukemia, minimally differentiated" EXACT [NCIT:C8460] +synonym: "acute myelocytic leukaemia with minimal differentiation" EXACT OMO:0003005 [] synonym: "acute myelocytic leukemia with minimal differentiation" EXACT [NCIT:C8460] +synonym: "acute myelogenous leukaemia with minimal differentiation" EXACT OMO:0003005 [] synonym: "acute myelogenous leukemia with minimal differentiation" EXACT [NCIT:C8460] +synonym: "acute myeloid leukaemia with minimal differentiation (MO)" EXACT OMO:0003005 [] synonym: "acute myeloid leukemia with minimal differentiation" EXACT [NCIT:C8460] synonym: "acute myeloid leukemia with minimal differentiation (MO)" EXACT [NCIT:C8460] synonym: "acute myeloid leukemia, minimally differentiated" EXACT [NCIT:C8460] synonym: "AML M0" EXACT [Orphanet:98832] synonym: "AML with minimal differentiation" EXACT [NCIT:C8460] synonym: "AMLMD" RELATED ABBREVIATION [ONCOTREE:AMLMD] +synonym: "M0 acute granulocytic leukaemia" EXACT OMO:0003005 [] +synonym: "M0 acute granulocytic leukaemia with minimal differentiation" EXACT OMO:0003005 [] synonym: "M0 acute granulocytic leukemia" EXACT [NCIT:C8460] synonym: "M0 acute granulocytic leukemia with minimal differentiation" EXACT [NCIT:C8460] +synonym: "M0 acute myeloblastic leukaemia" EXACT OMO:0003005 [] synonym: "M0 acute myeloblastic leukemia" EXACT [NCIT:C8460] +synonym: "M0 acute myelocytic leukaemia" EXACT OMO:0003005 [] synonym: "M0 acute myelocytic leukemia" EXACT [NCIT:C8460] +synonym: "M0 acute myelogenous leukaemia" EXACT OMO:0003005 [] +synonym: "M0 acute myelogenous leukaemia with minimal differentiation" EXACT OMO:0003005 [] synonym: "M0 acute myelogenous leukemia" EXACT [NCIT:C8460] synonym: "M0 acute myelogenous leukemia with minimal differentiation" EXACT [NCIT:C8460] +synonym: "M0 myeloid leukaemia" EXACT OMO:0003005 [] +synonym: "M0 myeloid leukaemia with minimal differentiation" EXACT OMO:0003005 [] synonym: "M0 myeloid leukemia" EXACT [NCIT:C8460] synonym: "M0 myeloid leukemia with minimal differentiation" EXACT [NCIT:C8460] +synonym: "minimally differentiated acute myeloblastic leukaemia" EXACT OMO:0003005 [] synonym: "minimally differentiated acute myeloblastic leukemia" EXACT [Orphanet:98832] xref: DOID:0081085 {source="MONDO:equivalentTo"} xref: EFO:0003026 {source="MONDO:equivalentTo"} @@ -87993,26 +90456,44 @@ name: acute myeloblastic leukemia without maturation def: "An acute myeloid leukemia (AML) characterized by blasts without evidence of maturation to more mature neutrophils. (WHO, 2001)" [NCIT:P378] subset: gard_rare {source="GARD:0000526"} subset: ordo_disease {source="Orphanet:98833"} +synonym: "acute granulocytic leukaemia without maturation" EXACT OMO:0003005 [] synonym: "acute granulocytic leukemia without maturation" EXACT [NCIT:C3249] +synonym: "acute M1 myeloid leukaemia" EXACT OMO:0003005 [] synonym: "acute M1 myeloid leukemia" EXACT [NCIT:C3249] +synonym: "acute myeloblastic leukaemia M1" EXACT OMO:0003005 [] +synonym: "acute myeloblastic leukaemia type 1" RELATED OMO:0003005 [] synonym: "acute myeloblastic leukemia M1" EXACT [Orphanet:98833] synonym: "acute myeloblastic leukemia type 1" RELATED [GARD:0000526] +synonym: "acute myelocytic leukaemia without maturation" EXACT OMO:0003005 [] synonym: "acute myelocytic leukemia without maturation" EXACT [NCIT:C3249] +synonym: "acute myelogenous leukaemia without maturation" EXACT OMO:0003005 [] synonym: "acute myelogenous leukemia without maturation" EXACT [NCIT:C3249] +synonym: "acute myeloid leukaemia without maturation" EXACT OMO:0003005 [] +synonym: "acute myeloid leukaemia without maturation (FAB M1)" EXACT OMO:0003005 [] synonym: "acute myeloid leukemia without maturation" EXACT [NCIT:C3249] synonym: "acute myeloid leukemia without maturation (FAB M1)" EXACT [NCIT:C3249] synonym: "AML M1" EXACT [Orphanet:98833] synonym: "AML without maturation" EXACT [NCIT:C3249] synonym: "AWM" RELATED ABBREVIATION [ONCOTREE:AWM] synonym: "FAB M1" EXACT [NCIT:C3249] +synonym: "M1 acute granulocytic leukaemia" EXACT OMO:0003005 [] +synonym: "M1 acute granulocytic leukaemia without maturation" EXACT OMO:0003005 [] synonym: "M1 acute granulocytic leukemia" EXACT [NCIT:C3249] synonym: "M1 acute granulocytic leukemia without maturation" EXACT [NCIT:C3249] +synonym: "M1 acute myeloblastic leukaemia" EXACT OMO:0003005 [] +synonym: "M1 acute myeloblastic leukaemia without maturation" EXACT OMO:0003005 [] synonym: "M1 acute myeloblastic leukemia" EXACT [NCIT:C3249] synonym: "M1 acute myeloblastic leukemia without maturation" EXACT [NCIT:C3249] +synonym: "M1 acute myelocytic leukaemia" EXACT OMO:0003005 [] +synonym: "M1 acute myelocytic leukaemia without maturation" EXACT OMO:0003005 [] synonym: "M1 acute myelocytic leukemia" EXACT [NCIT:C3249] synonym: "M1 acute myelocytic leukemia without maturation" EXACT [NCIT:C3249] +synonym: "M1 acute myelogenous leukaemia" EXACT OMO:0003005 [] +synonym: "M1 acute myelogenous leukaemia without maturation" EXACT OMO:0003005 [] synonym: "M1 acute myelogenous leukemia" EXACT [NCIT:C3249] synonym: "M1 acute myelogenous leukemia without maturation" EXACT [NCIT:C3249] +synonym: "M1 acute myeloid leukaemia" EXACT OMO:0003005 [] +synonym: "M1 acute myeloid leukaemia without maturation" EXACT OMO:0003005 [] synonym: "M1 acute myeloid leukemia" EXACT [NCIT:C3249] synonym: "M1 acute myeloid leukemia without maturation" EXACT [NCIT:C3249] xref: DOID:0081086 {source="MONDO:equivalentTo"} @@ -88214,6 +90695,9 @@ synonym: "smoldering multiple myeloma" EXACT [NCIT:C7149] synonym: "smoldering Multiple myeloma/plasma cell myeloma" EXACT [NCIT:C7149] synonym: "smoldering myeloma" EXACT [DOID:9551, NCIT:C7149] synonym: "smoldering plasma cell myeloma" EXACT [NCIT:C7149] +synonym: "smouldering multiple myeloma" EXACT OMO:0003005 [] +synonym: "smouldering Multiple myeloma/plasma cell myeloma" EXACT OMO:0003005 [] +synonym: "smouldering myeloma" EXACT OMO:0003005 [] xref: DOID:9551 {source="MONDO:equivalentTo", source="EFO:0003073"} xref: EFO:0003073 {source="MONDO:equivalentTo"} xref: NCIT:C7149 {source="MONDO:equivalentTo", source="EFO:0003073"} @@ -88669,14 +91153,19 @@ replaced_by: MONDO:0002009 id: MONDO:0005264 name: transient ischemic attack def: "A brief attack (from a few minutes to an hour) of cerebral dysfunction of vascular origin, with no persistent neurological deficit." [NCIT:C50781] +synonym: "attack, transient ischaemic" EXACT OMO:0003005 [] synonym: "attack, transient ischemic" EXACT [NCIT:C50781] +synonym: "ischaemic attack, transient" EXACT OMO:0003005 [] synonym: "ischemic attack, transient" EXACT [NCIT:C50781] synonym: "TIA" EXACT ABBREVIATION [DOID:224, NCIT:C50781] +synonym: "TIA - transient ischaemic attack" EXACT OMO:0003005 [] synonym: "TIA - transient ischemic attack" EXACT [DOID:224] synonym: "transient cerebral ischaemia" EXACT [DOID:224] synonym: "transient cerebral ischaemia NOS" RELATED EXCLUDE [DOID:224] synonym: "transient cerebral ischemia" RELATED [DOID:224] synonym: "transient cerebral ischemia (disorder) [ambiguous]" EXACT [DOID:224] +synonym: "transient ischaemic attack (disease)" EXACT OMO:0003005 [] +synonym: "transient ischaemic attacks" EXACT OMO:0003005 [] synonym: "transient ischemic attack" EXACT [DOID:224, MONDO:ambiguous, MTH:NOCODE, NCIT:C50781] synonym: "transient ischemic attack (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "transient ischemic attacks" EXACT [NCIT:C50781] @@ -88883,10 +91372,12 @@ name: myelodysplastic syndrome with single lineage dysplasia def: "A myelodysplastic syndrome characterized by dysplasia seen in at least 10% of the early cells of 1 cell type (either red blood cells, white blood cells, or megakaryocytes) in the bone marrow." [doi:10.5772/intechopen.82532, https://orcid.org/0000-0002-4142-7153] comment: This disease was reclassified by the World Health Organization (WHO) in 2016. It was referred to as refractory cytopenia with unilineage dysplasia (RCUD) in the previous classification system. It includes refractory anemia (unilineage erythroid dysplasia), refractory neutropenia (unilineage dysgranulopoiesis), and refractory thrombocytopenia (unilineage dysmegakaryocytopoiesis). subset: ordo_disease {source="Orphanet:98826"} +synonym: "aregenerative anaemia" RELATED OMO:0003005 [] synonym: "aregenerative anemia" RELATED [NCIT:C2872] synonym: "MDS with single lineage dysplasia" EXACT ABBREVIATION [doi:10.5772/intechopen.82532] synonym: "MDS-SLD" EXACT ABBREVIATION [doi:10.5772/intechopen.82532] synonym: "RA" EXACT ABBREVIATION [NCIT:C2872] +synonym: "refractory anaemia" EXACT OMO:0003005 [] synonym: "refractory anemia" EXACT [NCIT:C2872] xref: EFO:0003802 {source="MONDO:equivalentTo"} xref: ICD9:238.72 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -89194,12 +91685,17 @@ synonym: "neoplasm of secondary palate" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the palate" EXACT [NCIT:C4402] synonym: "palate neoplasm" EXACT [NCIT:C4402] synonym: "palate tumor" EXACT [NCIT:C4402] +synonym: "palate tumour" EXACT OMO:0003005 [] synonym: "secondary palate neoplasm" EXACT [] synonym: "secondary palate neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "secondary palate tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "secondary palate tumour" EXACT OMO:0003005 [] synonym: "tumor of palate" EXACT [NCIT:C4402] synonym: "tumor of secondary palate" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of the palate" EXACT [NCIT:C4402] +synonym: "tumour of palate" EXACT OMO:0003005 [] +synonym: "tumour of secondary palate" EXACT OMO:0003005 [] +synonym: "tumour of the palate" EXACT OMO:0003005 [] xref: EFO:0003849 {source="MONDO:equivalentTo"} xref: MESH:D010157 {source="MONDO:equivalentTo", source="EFO:0003849"} xref: NCIT:C4402 {source="MONDO:equivalentTo", source="EFO:0003849"} @@ -89240,6 +91736,7 @@ name: paranasal sinus neoplasm def: "A benign or malignant neoplasm that affects the paranasal sinuses. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma." [NCIT:C7488] synonym: "accessory sinus neoplasm" EXACT [NCIT:C7488] synonym: "accessory sinus tumor" EXACT [NCIT:C7488] +synonym: "accessory sinus tumour" EXACT OMO:0003005 [] synonym: "neoplasm of accessory sinus" EXACT [DOID:1350, NCIT:C7488] synonym: "neoplasm of paranasal sinus" EXACT [MONDO:patterns/neoplasm, NCIT:C7488] synonym: "neoplasm of the accessory sinus" EXACT [NCIT:C7488] @@ -89248,10 +91745,15 @@ synonym: "paranasal sinus neoplasm" EXACT [MONDO:ambiguous, NCIT:C7488] synonym: "paranasal sinus neoplasm (disease)" EXACT [https://orcid.org/0000-0002-6601-2165, MONDO:patterns/location] synonym: "paranasal sinus neoplasms" EXACT [NCIT:C7488] synonym: "paranasal sinus tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C7488] +synonym: "paranasal sinus tumour" EXACT OMO:0003005 [] synonym: "tumor of accessory sinus" EXACT [DOID:1350, NCIT:C7488] synonym: "tumor of paranasal sinus" EXACT [MONDO:patterns/neoplasm, NCIT:C7488] synonym: "tumor of the accessory sinus" EXACT [NCIT:C7488] synonym: "tumor of the paranasal sinus" EXACT [NCIT:C7488] +synonym: "tumour of accessory sinus" EXACT OMO:0003005 [] +synonym: "tumour of paranasal sinus" EXACT OMO:0003005 [] +synonym: "tumour of the accessory sinus" EXACT OMO:0003005 [] +synonym: "tumour of the paranasal sinus" EXACT OMO:0003005 [] xref: DOID:1350 {source="MONDO:equivalentTo", source="EFO:0003866"} xref: EFO:0003866 {source="MONDO:equivalentTo"} xref: HP:0030072 {source="MONDO:otherHierarchy"} @@ -89496,9 +91998,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0005299 name: brain ischemia def: "Diminished or absent blood supply to the brain caused by obstruction (thrombosis or embolism) of an artery resulting in neurologic damage." [NCIT:C78394] +synonym: "brain ischaemic disease" EXACT OMO:0003005 [] synonym: "brain ischemia" EXACT [MONDO:patterns/location] synonym: "brain ischemic disease" EXACT [MONDO:patterns/location] synonym: "cerebrovascular ischemia" EXACT [NCIT:C78394] +synonym: "ischaemic disease of brain" EXACT OMO:0003005 [] +synonym: "ischaemic encephalopathy" EXACT OMO:0003005 [] synonym: "ischemia cerebrovascular" EXACT [NCIT:C78394] synonym: "ischemic disease of brain" EXACT [MONDO:design_pattern] synonym: "ischemic encephalopathy" EXACT [DOID:2316] @@ -89559,6 +92064,7 @@ intersection_of: has_characteristic PATO:0001863 ! chronic id: MONDO:0005301 name: multiple sclerosis def: "A progressive autoimmune disorder affecting the central nervous system resulting in demyelination. Patients develop physical and cognitive impairments that correspond with the affected nerve fibers." [NCIT:P378] +synonym: "generalised multiple sclerosis" NARROW OMO:0003005 [] synonym: "generalized multiple sclerosis" NARROW [DOID:2377] synonym: "insular sclerosis" RELATED [DOID:2377] xref: DOID:2377 {source="EFO:0003885", source="MONDO:equivalentTo"} @@ -89638,11 +92144,14 @@ synonym: "biliary tract neoplasm (disease)" EXACT [https://orcid.org/0000-0002-6 synonym: "biliary tree neoplasm" EXACT [] synonym: "biliary tree neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "biliary tree tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "biliary tree tumour" EXACT OMO:0003005 [] synonym: "extrahepatic bile duct neoplasm" RELATED EXCLUDE [DOID:0050625] synonym: "neoplasm of biliary tree" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of extrahepatic bile ducts" EXACT [DOID:0050625] synonym: "tumor of biliary tree" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of the extrahepatic bile duct" RELATED EXCLUDE [DOID:0050625] +synonym: "tumour of biliary tree" EXACT OMO:0003005 [] +synonym: "tumour of the extrahepatic bile duct" RELATED OMO:0003005 [] xref: DOID:0050625 {source="EFO:0003891", source="MONDO:equivalentTo"} xref: EFO:0003891 {source="MONDO:equivalentTo"} xref: HP:0100574 {source="MONDO:otherHierarchy"} @@ -89808,6 +92317,7 @@ def: "Necrotizing enterocolitis (NEC) is a devastating disease that affects most synonym: "NEC" EXACT ABBREVIATION [NCIT:C84915] synonym: "necrotizing enterocolitis" EXACT [NCIT:C84915] synonym: "necrotizing enterocolitis in fetus or newborn" NARROW [NCIT:C84915] +synonym: "necrotizing enterocolitis in foetus or newborn" NARROW OMO:0003005 [] xref: EFO:0003928 {source="MONDO:equivalentTo"} xref: ICD9:777.5 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D020345 {source="MONDO:equivalentTo", source="EFO:0003928"} @@ -90146,20 +92656,27 @@ alt_id: MONDO:0021236 def: "A benign or malignant neoplasm that affects the colon or rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colorectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms." [NCIT:C2956] synonym: "colorectal neoplasm" EXACT [NCIT:C2956] synonym: "colorectal tumor" EXACT [NCIT:C2956] +synonym: "colorectal tumour" EXACT OMO:0003005 [] synonym: "colorectum neoplasm" EXACT [] synonym: "colorectum neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "colorectum tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "colorectum tumour" EXACT OMO:0003005 [] synonym: "large bowel neoplasm" EXACT [NCIT:C2956] synonym: "large bowel tumor" EXACT [NCIT:C2956] +synonym: "large bowel tumour" EXACT OMO:0003005 [] synonym: "large intestinal neoplasm" EXACT [NCIT:C2956] synonym: "large intestine neoplasm" EXACT [NCIT:C2956] synonym: "large intestine tumor" EXACT [NCIT:C2956] +synonym: "large intestine tumour" EXACT OMO:0003005 [] synonym: "neoplasm of colorectum" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of large bowel" EXACT [NCIT:C2956] synonym: "neoplasm of the large bowel" EXACT [NCIT:C2956] synonym: "tumor of colorectum" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of large bowel" EXACT [NCIT:C2956] synonym: "tumor of the large bowel" EXACT [NCIT:C2956] +synonym: "tumour of colorectum" EXACT OMO:0003005 [] +synonym: "tumour of large bowel" EXACT OMO:0003005 [] +synonym: "tumour of the large bowel" EXACT OMO:0003005 [] xref: EFO:0004142 {source="MONDO:equivalentTo"} xref: MESH:D015179 {source="MONDO:equivalentTo", source="EFO:0004142"} xref: NCIT:C2956 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:0004142"} @@ -90288,11 +92805,15 @@ synonym: "basal cell neoplasm NOS (morphologic abnormality)" BROAD EXCLUDE [DOID synonym: "basal cell skin carcinoma" EXACT [NCIT:C2921] synonym: "basal cell tumor" BROAD [DOID:2513, NCIT:C3784] synonym: "basal cell tumor (morphologic abnormality)" BROAD EXCLUDE [DOID:2513] +synonym: "basal cell tumour" BROAD OMO:0003005 [] +synonym: "basal cell tumour (morphologic abnormality)" BROAD OMO:0003005 [] synonym: "BCC" BROAD ABBREVIATION [NCIT:C2921] synonym: "epithelioma basal cell" RELATED [DOID:2513] synonym: "malignant basal cell neoplasm" BROAD EXCLUDE [DOID:2513] synonym: "malignant basal cell tumor" BROAD EXCLUDE [DOID:2513] synonym: "malignant basal cell tumor (morphologic abnormality)" BROAD EXCLUDE [DOID:2513] +synonym: "malignant basal cell tumour" BROAD OMO:0003005 [] +synonym: "malignant basal cell tumour (morphologic abnormality)" BROAD OMO:0003005 [] synonym: "skin basal cell cancer" EXACT [NCIT:C2921] synonym: "skin basal cell carcinoma" EXACT [NCIT:C2921] xref: CSP:2000-2719 {source="DOID:2513"} @@ -90734,6 +93255,7 @@ subset: gard_rare {source="GARD:0006549"} synonym: "Basedow disease" RELATED [GARD:0006549] synonym: "Basedow's disease" RELATED [DOID:12361] synonym: "exophthalmic goiter" EXACT [DOID:12361] +synonym: "exophthalmic goitre" EXACT OMO:0003005 [] synonym: "grave's disease" EXACT [DOID:12361] synonym: "Graves disease" EXACT [DOID:12361] synonym: "Graves' disease" RELATED [DOID:12361] @@ -90833,9 +93355,11 @@ comment: Editor note: In NCIT all carcinoid tumors are grade 1, but the name is synonym: "carcinoid" EXACT [NCIT:C2915] synonym: "carcinoid tumor" EXACT [MONDO:ambiguous, NCIT:C2915] synonym: "carcinoid tumor (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] +synonym: "carcinoid tumour (disease)" EXACT OMO:0003005 [] synonym: "NET G1" EXACT [MONDO:cjm] synonym: "neuroendocrine neoplasm G1" EXACT [MONDO:cjm] synonym: "neuroendocrine tumor G1" EXACT [MONDO:cjm] +synonym: "neuroendocrine tumour G1" EXACT OMO:0003005 [] xref: EFO:0004243 {source="MONDO:equivalentTo"} xref: HP:0100570 {source="MONDO:otherHierarchy"} xref: ICD9:209.60 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -90930,10 +93454,13 @@ synonym: "bone marrow cancer" NARROW [DOID:4960] synonym: "bone marrow neoplasm" EXACT [DOID:4960, NCIT:C35370] synonym: "bone marrow neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "bone marrow tumor" EXACT [DOID:4960, MONDO:patterns/neoplasm, NCIT:C35370] +synonym: "bone marrow tumour" EXACT OMO:0003005 [] synonym: "malignant bone marrow tumor" NARROW [DOID:4960] +synonym: "malignant bone marrow tumour" NARROW OMO:0003005 [] synonym: "malignant neoplasm of bone marrow" NARROW EXCLUDE [DOID:4960] synonym: "neoplasm of bone marrow" EXACT [MONDO:patterns/neoplasm, NCIT:C35370] synonym: "tumor of bone marrow" EXACT [MONDO:patterns/neoplasm] +synonym: "tumour of bone marrow" EXACT OMO:0003005 [] xref: DOID:4960 {source="MONDO:equivalentTo"} xref: ICD10CM:D47.1 {source="DOID:4960"} xref: ICD9:238.79 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -90959,13 +93486,17 @@ alt_id: MONDO:0021362 def: "A benign or malignant neoplasm affecting the nasopharynx. Representative examples of benign neoplasms include angiofibroma and squamous papilloma. Representative examples of malignant neoplasms include keratinizing squamous cell carcinoma and nonkeratinizing carcinoma." [NCIT:C3257] synonym: "nasopharyngeal neoplasms" EXACT [NCIT:C3257] synonym: "nasopharyngeal tumor" EXACT [NCIT:C3257] +synonym: "nasopharyngeal tumour" EXACT OMO:0003005 [] synonym: "nasopharynx neoplasm" EXACT [] synonym: "nasopharynx neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "nasopharynx tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "nasopharynx tumour" EXACT OMO:0003005 [] synonym: "neoplasm of nasopharynx" EXACT [MONDO:patterns/neoplasm, NCIT:C3257] synonym: "neoplasm of the nasopharynx" EXACT [NCIT:C3257] synonym: "tumor of nasopharynx" EXACT [MONDO:patterns/neoplasm, NCIT:C3257] synonym: "tumor of the nasopharynx" EXACT [NCIT:C3257] +synonym: "tumour of nasopharynx" EXACT OMO:0003005 [] +synonym: "tumour of the nasopharynx" EXACT OMO:0003005 [] xref: EFO:0004252 {source="MONDO:equivalentTo"} xref: MESH:C538339 {source="EFO:0004252"} xref: MESH:D009303 {source="MONDO:equivalentTo", source="EFO:0004252"} @@ -91088,6 +93619,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:399158"} synonym: "aseptic necrosis" EXACT [DOID:10159] synonym: "bone necrosis" EXACT [DOID:10159, NCIT:C34880, Orphanet:399158] +synonym: "ischaemic bone disease" EXACT OMO:0003005 [] synonym: "ischemic bone disease" EXACT [MONDO:0000835] synonym: "osteonecrosis" EXACT [NCIT:C34880] xref: DOID:0080008 {source="MONDO:equivalentTo"} @@ -91529,9 +94061,9 @@ is_a: MONDO:0005160 {source="DOID:14004", source="EFO:0004282"} ! aortic aneurys id: MONDO:0005397 name: goiter def: "Enlargement of the thyroid gland usually caused by lack of iodine in the diet, hyperthyroidism, or thyroid nodules. Symptoms include difficulty in breathing and swallowing." [NCIT:P378] -synonym: "goiter" EXACT [MONDO:ambiguous] -synonym: "goiter" EXACT [DOID:12176] +synonym: "goiter" EXACT [DOID:12176, MONDO:ambiguous] synonym: "goiter (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] +synonym: "goitre (disease)" EXACT OMO:0003005 [] synonym: "Thyromegaly" EXACT [NCIT:C26785] xref: DOID:12176 {source="MONDO:equivalentTo", source="EFO:0004283"} xref: EFO:0004283 {source="MONDO:equivalentTo"} @@ -91584,12 +94116,16 @@ def: "A benign or malignant neoplasm that affects the colon. Representative exam synonym: "colon neoplasm" EXACT [NCIT:C2953] synonym: "colon neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "colon tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C2953] +synonym: "colon tumour" EXACT OMO:0003005 [] synonym: "colonic neoplasm" EXACT [NCIT:C2953] synonym: "colonic tumor" EXACT [NCIT:C2953] +synonym: "colonic tumour" EXACT OMO:0003005 [] synonym: "neoplasm of colon" EXACT [MONDO:patterns/neoplasm, NCIT:C2953] synonym: "neoplasm of the colon" EXACT [NCIT:C2953] synonym: "tumor of colon" EXACT [MONDO:patterns/neoplasm, NCIT:C2953] synonym: "tumor of the colon" EXACT [NCIT:C2953] +synonym: "tumour of colon" EXACT OMO:0003005 [] +synonym: "tumour of the colon" EXACT OMO:0003005 [] xref: EFO:0004288 {source="MONDO:equivalentTo"} xref: MESH:D003110 {source="EFO:0004288", source="DOID:219", source="MONDO:equivalentTo"} xref: NCIT:C2953 {source="EFO:0004288", source="MONDO:equivalentTo"} @@ -91605,10 +94141,14 @@ id: MONDO:0005402 name: lymphoid leukemia def: "A malignant lymphocytic neoplasm of B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. This category includes precursor or acute lymphoblastic leukemias and chronic leukemias." [NCIT:C7539] synonym: "leukemia, LYMPHOCYTIC, malignant" EXACT [NCIT:C7539] +synonym: "lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "lymphocytic leukemia" EXACT [NCIT:C7539] +synonym: "lymphogenous leukaemia" EXACT OMO:0003005 [] synonym: "lymphogenous leukemia" EXACT [NCIT:C7539] +synonym: "lymphoid leukaemia (disease)" EXACT OMO:0003005 [] synonym: "lymphoid leukemia" EXACT [MONDO:ambiguous, NCIT:C7539] synonym: "lymphoid leukemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] +synonym: "subacute lymphoid leukaemia" EXACT OMO:0003005 [] synonym: "subacute lymphoid leukemia" EXACT [DOID:10747] xref: DOID:1037 {source="MONDO:equivalentTo"} xref: DOID:10747 {source="EFO:0004289", source="MONDO:equivalentObsolete"} @@ -91686,6 +94226,7 @@ name: childhood onset asthma def: "Asthma that starts in childhood." [EFO:0004591] synonym: "asthma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "childhood asthma" EXACT [MONDO:design_pattern] +synonym: "paediatric asthma" EXACT OMO:0003005 [] synonym: "pediatric asthma" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] xref: DOID:0080815 {source="MONDO:equivalentTo"} xref: EFO:0004591 {source="MONDO:equivalentTo"} @@ -91724,6 +94265,7 @@ id: MONDO:0005407 name: childhood eosinophilic esophagitis def: "An eosinophilic esophagitis that starts in childhood." [EFO:0004594] synonym: "eosinophilic esophagitis of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] +synonym: "paediatric eosinophilic esophagitis" EXACT OMO:0003005 [] synonym: "pediatric eosinophilic esophagitis" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] xref: EFO:0004594 {source="MONDO:equivalentTo"} is_a: MONDO:0005361 {source="EFO:0004594", source="MONDO:Redundant"} ! eosinophilic esophagitis @@ -91761,17 +94303,21 @@ synonym: "cancer of gall bladder" EXACT [MONDO:patterns/cancer] synonym: "gall bladder cancer" EXACT [MONDO:patterns/location] synonym: "gallbladder Ca" EXACT [DOID:3121] synonym: "gallbladder neoplasm" BROAD [DOID:3121, MTH:NOCODE] +synonym: "localised malignant gallbladder neoplasm" NARROW OMO:0003005 [] synonym: "localized malignant gallbladder neoplasm" NARROW [DOID:3121, NCIT:C35676] synonym: "malignant gall bladder neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant gallbladder neoplasm" EXACT [NCIT:C7481] synonym: "malignant gallbladder tumor" EXACT [NCIT:C7481] +synonym: "malignant gallbladder tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of gall bladder" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of gallbladder" EXACT [DOID:3121, NCIT:C7481] synonym: "malignant neoplasm of the gallbladder" EXACT [NCIT:C7481] -synonym: "malignant tumor of gallbladder" EXACT [NCIT:C7481] -synonym: "malignant tumor of gallbladder" EXACT [DOID:3121] +synonym: "malignant tumor of gallbladder" EXACT [DOID:3121, NCIT:C7481] synonym: "malignant tumor of the gallbladder" EXACT [DOID:3121, NCIT:C7481] +synonym: "malignant tumour of gallbladder" EXACT OMO:0003005 [] +synonym: "malignant tumour of the gallbladder" EXACT OMO:0003005 [] synonym: "tumor of the gallbladder" BROAD [DOID:3121, NCIT:C3048] +synonym: "tumour of the gallbladder" BROAD OMO:0003005 [] xref: DOID:3121 {source="MONDO:equivalentTo", source="EFO:0004606"} xref: EFO:0004606 {source="MONDO:equivalentTo"} xref: ICD10CM:C23 {source="DOID:3121"} @@ -92108,6 +94654,7 @@ synonym: "metastasis to lymph node" EXACT [NCIT:C4904] synonym: "metastatic malignant neoplasm to the lymph nodes" EXACT [NCIT:C4904] synonym: "metastatic neoplasm to the lymph node" EXACT [NCIT:C4904] synonym: "metastatic tumor to lymph node" EXACT [NCIT:C4904] +synonym: "metastatic tumour to lymph node" EXACT OMO:0003005 [] xref: EFO:0004906 {source="MONDO:equivalentTo"} xref: NCIT:C4904 {source="MONDO:equivalentTo", source="EFO:0004906"} xref: UMLS:C0686619 {source="NCIT:C4904", source="MONDO:equivalentTo"} @@ -92293,12 +94840,17 @@ synonym: "malignant neoplasm of testis" EXACT [MONDO:patterns/cancer, NCIT:C7251 synonym: "malignant neoplasm of the testis" EXACT [NCIT:C7251] synonym: "malignant testicular neoplasm" EXACT [NCIT:C7251] synonym: "malignant testicular tumor" EXACT [NCIT:C7251] +synonym: "malignant testicular tumour" EXACT OMO:0003005 [] synonym: "malignant testis neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of testis" EXACT [NCIT:C7251] synonym: "malignant tumor of the testis" EXACT [NCIT:C7251] +synonym: "malignant tumour of testis" EXACT OMO:0003005 [] +synonym: "malignant tumour of the testis" EXACT OMO:0003005 [] synonym: "neoplasm of testis" RELATED EXCLUDE [DOID:2998] +synonym: "paediatric testicular neoplasm" RELATED OMO:0003005 [] synonym: "pediatric testicular neoplasm" RELATED EXCLUDE [DOID:2998, NCIT:C5053] synonym: "testicular tumor" BROAD [DOID:2998, NCIT:C3404] +synonym: "testicular tumour" BROAD OMO:0003005 [] synonym: "testis cancer" EXACT [DOID:2998, MONDO:patterns/location] synonym: "testis neoplasm" BROAD [DOID:2998] xref: DOID:2998 {source="MONDO:equivalentTo", source="EFO:0005088"} @@ -92447,10 +94999,12 @@ synonym: "lung NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "lung neuroendocrine neoplasm" EXACT [MONDO:patterns/location, NCIT:C5670] synonym: "lung neuroendocrine tumor" EXACT [MONDO:patterns/location, MONDO:patterns/neuroendocrine_neoplasm] synonym: "lung neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm] +synonym: "lung neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "neuroendocrine neoplasm of lung" EXACT [MONDO:patterns/neuroendocrine_neoplasm, NCIT:C5670] synonym: "neuroendocrine neoplasm of the lung" EXACT [NCIT:C5670] synonym: "pulmonary neuroendocrine neoplasm" EXACT [NCIT:C5670] synonym: "pulmonary neuroendocrine tumor" RELATED [DOID:5410] +synonym: "pulmonary neuroendocrine tumour" RELATED OMO:0003005 [] xref: DOID:5410 {source="MONDO:equivalentTo", source="EFO:0005220"} xref: EFO:0005220 {source="MONDO:equivalentTo"} xref: ICD9:209.61 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -92586,11 +95140,13 @@ def: "A malignant neoplasm that originates in the neuroectoderm. The neuroectode comment: Editor note: TODO check relationship to neuroepithelioma synonym: "neuroectodermal neoplasm" EXACT [NCIT:C3716] synonym: "neuroectodermal tumor" EXACT [MONDO:0002084, NCIT:C3716] +synonym: "neuroectodermal tumour" EXACT OMO:0003005 [] synonym: "neuroepithelioma" RELATED [NCIT:C3716] synonym: "PNET" EXACT ABBREVIATION [NCIT:C3716] synonym: "primitive neuroectodermal neoplasm" EXACT [DOID:171, NCIT:C3716] synonym: "primitive neuroectodermal tumor" EXACT [NCIT:C3716] synonym: "primitive neuroectodermal tumor (PNET)" EXACT [NCIT:C3716] +synonym: "primitive neuroectodermal tumour (PNET)" EXACT OMO:0003005 [] xref: DOID:171 {source="MONDO:equivalentTo"} xref: EFO:0005235 {source="MONDO:equivalentTo"} xref: ICDO:9473/3 {source="NCIT:C3716"} @@ -92902,6 +95458,7 @@ id: MONDO:0005485 name: psychotic disorder def: "An abnormal condition of the mind that involves a loss of contact with reality. People experiencing psychosis may exhibit personality changes and thought disorder. Depending on its severity, this may be accompanied by unusual or bizarre behavior, as well as difficulty with social interaction and impairment in carrying out daily life activities." [Wikipedia:Psychosis] synonym: "mental or behavioral disorder" BROAD [DOID:2468] +synonym: "mental or behavioural disorder" BROAD OMO:0003005 [] synonym: "psychosis" EXACT [MONDO:ambiguous] xref: DOID:2468 {source="MONDO:equivalentTo"} xref: EFO:0000677 {source="DOID:2468"} @@ -93375,6 +95932,7 @@ synonym: "DNET" EXACT ABBREVIATION [Orphanet:251946] synonym: "DNT" EXACT ABBREVIATION [NCIT:C9505, ONCOTREE:DNT] synonym: "dysembryoplastic neuroepithelial neoplasm" EXACT [DOID:2679, NCIT:C9505] synonym: "dysembryoplastic neuroepithelial tumor (morphologic abnormality)" EXACT [DOID:2679] +synonym: "dysembryoplastic neuroepithelial tumour (morphologic abnormality)" EXACT OMO:0003005 [] xref: DOID:2679 {source="MONDO:equivalentTo", source="EFO:0005551"} xref: EFO:0005551 {source="MONDO:equivalentTo"} xref: ICDO:9413/0 {source="NCIT:C9505"} @@ -93402,10 +95960,14 @@ synonym: "malignant eccrine neoplasm of skin" EXACT [NCIT:C5559] synonym: "malignant eccrine neoplasm of the skin" EXACT [NCIT:C5559] synonym: "malignant eccrine skin neoplasm" EXACT [DOID:4921, NCIT:C5559] synonym: "malignant eccrine skin tumor" EXACT [NCIT:C5559] +synonym: "malignant eccrine skin tumour" EXACT OMO:0003005 [] synonym: "malignant eccrine sweat gland neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant eccrine tumor" EXACT [DOID:4921, NCIT:C5559] synonym: "malignant eccrine tumor of skin" EXACT [NCIT:C5559] synonym: "malignant eccrine tumor of the skin" EXACT [NCIT:C5559] +synonym: "malignant eccrine tumour" EXACT OMO:0003005 [] +synonym: "malignant eccrine tumour of skin" EXACT OMO:0003005 [] +synonym: "malignant eccrine tumour of the skin" EXACT OMO:0003005 [] synonym: "malignant neoplasm of eccrine sweat gland" EXACT [MONDO:patterns/cancer] xref: DOID:4921 {source="EFO:0005553", source="MONDO:equivalentTo"} xref: EFO:0005553 {source="MONDO:equivalentTo"} @@ -93428,18 +95990,23 @@ synonym: "gum cancer" RELATED [DOID:8602] synonym: "malignant gingiva neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant gingival neoplasm" EXACT [NCIT:C9317] synonym: "malignant gingival tumor" EXACT [DOID:8602, NCIT:C9317] +synonym: "malignant gingival tumour" EXACT OMO:0003005 [] synonym: "malignant gum neoplasm" EXACT [NCIT:C9317] synonym: "malignant gum tumor" EXACT [NCIT:C9317] +synonym: "malignant gum tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of gingiva" EXACT [MONDO:patterns/cancer, NCIT:C9317] synonym: "malignant neoplasm of gum" EXACT [DOID:8602, ICD9CM:143, NCIT:C9317] synonym: "malignant neoplasm of other sites of gum" EXACT [DOID:8602] synonym: "malignant neoplasm of the gingiva" EXACT [NCIT:C9317] synonym: "malignant neoplasm of the gum" EXACT [NCIT:C9317] -synonym: "malignant tumor of gingiva" EXACT [DOID:8602] -synonym: "malignant tumor of gingiva" EXACT [NCIT:C9317] +synonym: "malignant tumor of gingiva" EXACT [DOID:8602, NCIT:C9317] synonym: "malignant tumor of gum" EXACT [NCIT:C9317] synonym: "malignant tumor of the gingiva" EXACT [NCIT:C9317] synonym: "malignant tumor of the gum" EXACT [NCIT:C9317] +synonym: "malignant tumour of gingiva" EXACT OMO:0003005 [] +synonym: "malignant tumour of gum" EXACT OMO:0003005 [] +synonym: "malignant tumour of the gingiva" EXACT OMO:0003005 [] +synonym: "malignant tumour of the gum" EXACT OMO:0003005 [] xref: DOID:8602 {source="EFO:0005557", source="MONDO:equivalentTo"} xref: EFO:0005557 {source="MONDO:equivalentTo"} xref: ICD10CM:C03 {source="DOID:8602"} @@ -93610,6 +96177,7 @@ def: "A primary or metastatic malignant neoplasm involving the oral cavity. The synonym: "cancer of oral cavity" EXACT [MONDO:patterns/cancer] synonym: "malignant mouth neoplasm" EXACT [NCIT:C9314] synonym: "malignant mouth tumor" EXACT [NCIT:C9314] +synonym: "malignant mouth tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of anterior portion of floor of mouth" NARROW [DOID:8618] synonym: "malignant neoplasm of floor of mouth" NARROW [DOID:8618, MTH:NOCODE] synonym: "malignant neoplasm of lateral floor of mouth" NARROW [DOID:8618, MTH:U001372] @@ -93619,12 +96187,19 @@ synonym: "malignant neoplasm of oral cavity" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of the mouth" EXACT [NCIT:C9314] synonym: "malignant oral cavity neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C9314] synonym: "malignant oral cavity tumor" EXACT [NCIT:C9314] +synonym: "malignant oral cavity tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of anterior floor of mouth" EXACT [DOID:8618] synonym: "malignant tumor of lateral floor of mouth" EXACT [DOID:8618] synonym: "malignant tumor of mouth" EXACT [NCIT:C9314] synonym: "malignant tumor of oral cavity" EXACT [] synonym: "malignant tumor of the floor of the mouth" NARROW [DOID:8618, NCIT:C9318] synonym: "malignant tumor of the mouth" EXACT [NCIT:C9314] +synonym: "malignant tumour of anterior floor of mouth" EXACT OMO:0003005 [] +synonym: "malignant tumour of lateral floor of mouth" EXACT OMO:0003005 [] +synonym: "malignant tumour of mouth" EXACT OMO:0003005 [] +synonym: "malignant tumour of oral cavity" EXACT OMO:0003005 [] +synonym: "malignant tumour of the floor of the mouth" NARROW OMO:0003005 [] +synonym: "malignant tumour of the mouth" EXACT OMO:0003005 [] synonym: "mouth cancer" RELATED [] synonym: "oral cavity cancer" EXACT [MONDO:patterns/location] xref: DOID:8618 {source="MONDO:equivalentTo", source="EFO:0005570"} @@ -93699,10 +96274,14 @@ synonym: "malignant neoplasm of chordate pharynx" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of pharynx" EXACT [MONDO:patterns/cancer] synonym: "malignant pharyngeal neoplasm" EXACT [NCIT:C7545] synonym: "malignant pharyngeal tumor" EXACT [NCIT:C7545] +synonym: "malignant pharyngeal tumour" EXACT OMO:0003005 [] synonym: "malignant pharynx neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7545] synonym: "malignant pharynx tumor" EXACT [NCIT:C7545] +synonym: "malignant pharynx tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of pharynx" EXACT [NCIT:C7545] synonym: "malignant tumor of the pharynx" EXACT [NCIT:C7545] +synonym: "malignant tumour of pharynx" EXACT OMO:0003005 [] +synonym: "malignant tumour of the pharynx" EXACT OMO:0003005 [] synonym: "pharyngeal cancer" RELATED [DOID:0060119] synonym: "pharyngeal neoplasm" EXACT [DOID:0060119] synonym: "pharynx cancer" EXACT [MONDO:patterns/location] @@ -93761,6 +96340,7 @@ synonym: "kidney renal pelvis cancer" EXACT [NCIT:C6142] synonym: "malignant neoplasm of renal pelvis" BROAD [DOID:4919, ICD9CM:189.1, MONDO:patterns/cancer] synonym: "malignant renal pelvis neoplasm" BROAD [DOID:4919, MONDO:patterns/cancer, NCIT:C7525] synonym: "malignant tumor of renal pelvis" BROAD EXCLUDE [DOID:4919] +synonym: "malignant tumour of renal pelvis" BROAD OMO:0003005 [] synonym: "renal pelvis cancer" BROAD [DOID:4919, MONDO:patterns/location] synonym: "renal pelvis carcinoma" EXACT [NCIT:C6142] xref: DOID:4919 {source="MONDO:equivalentTo", source="EFO:0005582"} @@ -93889,7 +96469,9 @@ intersection_of: disease_has_location UBERON:0001820 ! sweat gland id: MONDO:0005525 name: T-cell leukemia def: "A malignant disease of the T-lymphocytes in the bone marrow, thymus, and/or blood." [MESH:D015458] +synonym: "leukaemia (disease) of T cell" EXACT OMO:0003005 [] synonym: "leukemia (disease) of T cell" EXACT [] +synonym: "T cell leukaemia (disease)" EXACT OMO:0003005 [] synonym: "T cell leukemia (disease)" EXACT [MONDO:patterns/location] xref: DOID:715 {source="MONDO:equivalentObsolete", source="EFO:0005592"} xref: EFO:0005592 {source="MONDO:equivalentTo"} @@ -94615,6 +97197,7 @@ synonym: "embryo neoplasm" EXACT [DOID:688] synonym: "embryonal cancer" RELATED [DOID:688] synonym: "embryonal neoplasm" EXACT [NCIT:C3264] synonym: "embryonal tumor" EXACT [NCIT:C3264] +synonym: "embryonal tumour" EXACT OMO:0003005 [] synonym: "EMBT" RELATED ABBREVIATION [ONCOTREE:EMBT] xref: DOID:688 {source="MONDO:equivalentTo"} xref: EFO:0005784 {source="MONDO:equivalentTo"} @@ -94755,10 +97338,20 @@ synonym: "blood disease" EXACT [DOID:74] synonym: "blood disorder" EXACT [DOID:74, NCIT:C26323] synonym: "blood dyscrasia" EXACT [DOID:74] synonym: "blood dyscrasia NOS" RELATED EXCLUDE [DOID:74] +synonym: "disease of haematopoietic system" EXACT OMO:0003005 [] synonym: "disease of hematopoietic system" EXACT [DOID:74, MONDO:patterns/location_top] synonym: "disease of the blood and blood-forming organs" EXACT [DOID:74, ICD9CM:280-289.99] +synonym: "disease or disorder of haematopoietic system" EXACT OMO:0003005 [] synonym: "disease or disorder of hematopoietic system" EXACT [] +synonym: "disorder of haematopoietic system" EXACT OMO:0003005 [] synonym: "disorder of hematopoietic system" EXACT [MONDO:patterns/location_top] +synonym: "haematological disease" EXACT OMO:0003005 [] +synonym: "haematological disorder" EXACT OMO:0003005 [] +synonym: "haematological disorders and malignancies" RELATED OMO:0003005 [] +synonym: "haematological system disease" EXACT OMO:0003005 [] +synonym: "haematopoietic disease" EXACT OMO:0003005 [] +synonym: "haematopoietic system disease" EXACT OMO:0003005 [] +synonym: "haematopoietic system disease or disorder" EXACT OMO:0003005 [] synonym: "hematologic and lymphocytic disorder" EXACT [NCIT:C26323] synonym: "hematologic disorder" EXACT [NCIT:C26323] synonym: "hematological disease" EXACT [DOID:74, MTH:NOCODE] @@ -94876,11 +97469,14 @@ synonym: "CRC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:114500] synonym: "large intestine cancer" RELATED [DOID:5672] synonym: "malignant colorectal neoplasm" EXACT [NCIT:C4978] synonym: "malignant colorectal tumor" EXACT [NCIT:C4978] +synonym: "malignant colorectal tumour" EXACT OMO:0003005 [] synonym: "malignant colorectum neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant large bowel neoplasm" EXACT [NCIT:C4978] synonym: "malignant large bowel tumor" EXACT [NCIT:C4978] +synonym: "malignant large bowel tumour" EXACT OMO:0003005 [] synonym: "malignant large intestine neoplasm" EXACT [NCIT:C4978] synonym: "malignant large intestine tumor" EXACT [NCIT:C4978] +synonym: "malignant large intestine tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of colorectum" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of large bowel" EXACT [NCIT:C4978] synonym: "malignant neoplasm of large intestine" EXACT [NCIT:C4978] @@ -94890,6 +97486,10 @@ synonym: "malignant tumor of large bowel" EXACT [NCIT:C4978] synonym: "malignant tumor of large intestine" EXACT [NCIT:C4978] synonym: "malignant tumor of the large bowel" EXACT [NCIT:C4978] synonym: "malignant tumor of the large intestine" EXACT [NCIT:C4978] +synonym: "malignant tumour of large bowel" EXACT OMO:0003005 [] +synonym: "malignant tumour of large intestine" EXACT OMO:0003005 [] +synonym: "malignant tumour of the large bowel" EXACT OMO:0003005 [] +synonym: "malignant tumour of the large intestine" EXACT OMO:0003005 [] xref: DOID:5672 {source="MONDO:equivalentTo"} xref: DOID:9256 {source="EFO:0005842", source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: EFO:0005842 {source="MONDO:equivalentTo"} @@ -94976,8 +97576,9 @@ name: epilepsy, idiopathic generalized def: "A chronic condition characterized by recurrent generalized seizures." [NCIT:P378] synonym: "EIG" EXACT ABBREVIATION [MONDO:cjm] synonym: "epilepsy, idiopathic generalized" EXACT [MONDO:Lexical, OMIM:600669] -synonym: "generalized epilepsy" EXACT [DOID:1827] -synonym: "generalized epilepsy" EXACT [NCIT:C3021] +synonym: "generalised epilepsy" EXACT OMO:0003005 [] +synonym: "generalized epilepsy" EXACT [DOID:1827, NCIT:C3021] +synonym: "idiopathic generalised epilepsy" EXACT OMO:0003005 [] synonym: "idiopathic generalized epilepsy" EXACT [DOID:1827, OMIM:600669] xref: DOID:1827 {source="MONDO:equivalentTo", source="EFO:0005917"} xref: EFO:0005917 {source="MONDO:equivalentTo"} @@ -95010,11 +97611,18 @@ synonym: "esophageal squamous cell cancer" EXACT [NCIT:C4024] synonym: "esophageal squamous cell carcinoma" EXACT [NCIT:C4024, Orphanet:99977] synonym: "esophagus scc" EXACT [NCIT:C4024] synonym: "esophagus squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C4024] +synonym: "oesophagus scc" EXACT OMO:0003005 [] +synonym: "oesophagus squamous cell carcinoma" EXACT OMO:0003005 [] synonym: "scc of esophagus" EXACT [DOID:3748, NCIT:C4024] +synonym: "scc of oesophagus" EXACT OMO:0003005 [] synonym: "scc of the esophagus" EXACT [NCIT:C4024] +synonym: "scc of the oesophagus" EXACT OMO:0003005 [] synonym: "squamous cell car. - esophagus" EXACT [NCIT:C4024] +synonym: "squamous cell car. - oesophagus" EXACT OMO:0003005 [] synonym: "squamous cell carcinoma of esophagus" EXACT [DOID:3748, NCIT:C4024] +synonym: "squamous cell carcinoma of oesophagus" EXACT OMO:0003005 [] synonym: "squamous cell carcinoma of the esophagus" EXACT [NCIT:C4024] +synonym: "squamous cell carcinoma of the oesophagus" EXACT OMO:0003005 [] xref: DOID:3748 {source="EFO:0005922", source="MONDO:equivalentTo"} xref: DOID:5041 {source="EFO:0005922"} xref: EFO:0005922 {source="MONDO:equivalentTo"} @@ -95096,15 +97704,20 @@ def: "A benign or malignant neoplasm that affects the anatomic structures of the synonym: "craniocervical region neoplasm" EXACT [] synonym: "craniocervical region neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "craniocervical region tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "craniocervical region tumour" EXACT OMO:0003005 [] synonym: "head and neck neoplasm" EXACT [NCIT:C3077] synonym: "head and neck neoplasm (excluding central nervous system)" EXACT [NCIT:C3077] synonym: "head and neck tumor" EXACT [NCIT:C3077] +synonym: "head and neck tumour" EXACT OMO:0003005 [] synonym: "neoplasm of craniocervical region" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of head and neck" EXACT [NCIT:C3077] synonym: "neoplasm of the head and neck" EXACT [NCIT:C3077] synonym: "tumor of craniocervical region" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of head and neck" EXACT [NCIT:C3077] synonym: "tumor of the head and neck" EXACT [NCIT:C3077] +synonym: "tumour of craniocervical region" EXACT OMO:0003005 [] +synonym: "tumour of head and neck" EXACT OMO:0003005 [] +synonym: "tumour of the head and neck" EXACT OMO:0003005 [] xref: EFO:0005950 {source="MONDO:equivalentTo"} xref: ICD9:239.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C12418 {source="ONCOTREE:HEADNECK"} @@ -95702,6 +98315,7 @@ synonym: "cerebral amyloid angiopathy, familial" RELATED [GARD:0010266] synonym: "cerebral amyloid angiopathy, genetic" RELATED [GARD:0010266] synonym: "dutch hereditary cerebral amyloid angiopathy" EXACT [DOID:9246] synonym: "HCHWA" EXACT ABBREVIATION [Orphanet:85458] +synonym: "hereditary cerebral haemorrhage with amyloidosis - Dutch type" EXACT OMO:0003005 [] synonym: "hereditary cerebral hemorrhage with amyloidosis - Dutch type" EXACT [DOID:9246] xref: DOID:9246 {source="MONDO:equivalentTo", source="EFO:0006790"} xref: EFO:0006790 {source="MONDO:equivalentTo"} @@ -95838,16 +98452,21 @@ synonym: "head and neck cancer, NOS" RELATED EXCLUDE [NCIT:C4013] synonym: "head and neck malignant neoplasia" EXACT [MONDO:patterns/cancer] synonym: "head and neck neoplasm" BROAD [DOID:11934, MTH:NOCODE] synonym: "head and neck tumors" BROAD [DOID:11934] +synonym: "head and neck tumours" BROAD OMO:0003005 [] synonym: "head/neck neoplasm" BROAD [DOID:11934] synonym: "malignant craniocervical region neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant head and neck neoplasm" EXACT [NCIT:C4013] synonym: "malignant head and neck tumor" EXACT [NCIT:C4013] +synonym: "malignant head and neck tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of craniocervical region" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of head and neck" EXACT [NCIT:C4013] synonym: "malignant neoplasm of the head and neck" EXACT [NCIT:C4013] synonym: "malignant tumor of head and neck" EXACT [NCIT:C4013] synonym: "malignant tumor of the head and neck" EXACT [NCIT:C4013] +synonym: "malignant tumour of head and neck" EXACT OMO:0003005 [] +synonym: "malignant tumour of the head and neck" EXACT OMO:0003005 [] synonym: "tumor of head and neck" BROAD EXCLUDE [DOID:11934] +synonym: "tumour of head and neck" BROAD OMO:0003005 [] xref: DOID:11934 {source="MONDO:equivalentTo", source="EFO:0006859"} xref: EFO:0006859 {source="MONDO:equivalentTo"} xref: MESH:D006258 {source="DOID:11934"} @@ -96349,6 +98968,7 @@ id: MONDO:0005649 name: appendicitis def: "Acute inflammation of the vermiform appendix." [NCIT:P378] synonym: "acute appendicitis" NARROW [DOID:8337] +synonym: "acute appendicitis with generalised peritonitis" NARROW OMO:0003005 [] synonym: "acute appendicitis with generalized peritonitis" NARROW [DOID:8337] synonym: "acute appendicitis with peritoneal abscess" NARROW [DOID:8337] synonym: "inflammation of vermiform appendix" EXACT [] @@ -96919,6 +99539,7 @@ alt_id: MONDO:0018219 def: "A benign but locally aggressive tumor that arises from the bone and is composed of mononuclear cells admixed with macrophages and osteoclast-like giant cells. It usually arises from the ends of long bones or the vertebrae. Clinical presentation includes pain, edema, and decreased range of motion in the affected joint." [NCIT:C121932] subset: ordo_disease {source="Orphanet:363976"} synonym: "benign bone giant cell tumor" EXACT [NCIT:C121932] +synonym: "benign bone giant cell tumour" EXACT OMO:0003005 [] synonym: "GCT of bone" EXACT [Orphanet:363976] synonym: "giant cell myeloma" RELATED [DOID:4305] synonym: "giant cell neoplasm of bone" EXACT [DOID:4305, NCIT:C3738] @@ -96927,6 +99548,10 @@ synonym: "giant cell tumor of bone (morphologic abnormality)" EXACT [DOID:4305] synonym: "giant cell tumor of bone NOS (morphologic abnormality)" EXACT [DOID:4305] synonym: "giant cell tumor of the bone" EXACT [NCIT:C121932] synonym: "giant cell tumor, benign" EXACT [NCIT:C121932] +synonym: "giant cell tumour of bone" EXACT OMO:0003005 [] +synonym: "giant cell tumour of bone (morphologic abnormality)" EXACT OMO:0003005 [] +synonym: "giant cell tumour of bone NOS (morphologic abnormality)" EXACT OMO:0003005 [] +synonym: "giant cell tumour of the bone" EXACT OMO:0003005 [] synonym: "osteoclastoma" RELATED [DOID:4305] synonym: "Osteoclastoma, benign" EXACT [NCIT:C121932] xref: DOID:4305 {source="MONDO:equivalentTo", source="EFO:0007176"} @@ -97314,15 +99939,20 @@ def: "A benign or malignant neoplasm that affects the cecum. Representative exam synonym: "caecum neoplasm" EXACT [] synonym: "caecum neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "caecum tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "caecum tumour" EXACT OMO:0003005 [] synonym: "cecal benign neoplasm" RELATED [DOID:1517] synonym: "cecum neoplasm" EXACT [DOID:1517, NCIT:C4433] synonym: "cecum tumor" EXACT [NCIT:C4433] +synonym: "cecum tumour" EXACT OMO:0003005 [] synonym: "neoplasm of caecum" EXACT [DOID:1517, MONDO:patterns/neoplasm] synonym: "neoplasm of cecum" EXACT [NCIT:C4433] synonym: "neoplasm of the cecum" EXACT [NCIT:C4433] synonym: "tumor of caecum" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of cecum" EXACT [NCIT:C4433] synonym: "tumor of the cecum" EXACT [NCIT:C4433] +synonym: "tumour of caecum" EXACT OMO:0003005 [] +synonym: "tumour of cecum" EXACT OMO:0003005 [] +synonym: "tumour of the cecum" EXACT OMO:0003005 [] xref: DOID:1517 {source="MONDO:equivalentTo", source="EFO:0007197"} xref: EFO:0007197 {source="MONDO:equivalentTo"} xref: MESH:D002430 {source="MONDO:equivalentTo", source="EFO:0007197", source="DOID:1517"} @@ -98389,13 +101019,17 @@ def: "A non-seminomatous malignant germ cell tumor composed of primitive germ ce subset: ordo_disease {source="Orphanet:876"} synonym: "endodermal sinus neoplasm" EXACT [NCIT:C3011] synonym: "endodermal sinus tumor" EXACT [NCIT:C3011, Orphanet:876] +synonym: "endodermal sinus tumour" EXACT OMO:0003005 [] synonym: "hepatoid yolk sac tumor" EXACT [DOID:1911] +synonym: "hepatoid yolk sac tumour" EXACT OMO:0003005 [] synonym: "infantile embryonal carcinoma" NARROW [DOID:1911] synonym: "yolk Sac neoplasm" EXACT [DOID:1911, NCIT:C3011] synonym: "yolk Sac tumor" EXACT [NCIT:C3011] synonym: "yolk sac tumor" EXACT [DOID:1911, MONDO:0019495] synonym: "yolk Sac tumor site unspecified" EXACT [NCIT:C3011] synonym: "yolk SAC tumor, malignant" EXACT [NCIT:C3011] +synonym: "yolk Sac tumour" EXACT OMO:0003005 [] +synonym: "yolk Sac tumour site unspecified" EXACT OMO:0003005 [] xref: DOID:1911 {source="MONDO:equivalentTo", source="EFO:0007252"} xref: EFO:0007252 {source="MONDO:equivalentTo"} xref: ICD10CM:C56 {source="Orphanet:876", source="Orphanet:876/btnt"} @@ -98792,6 +101426,7 @@ synonym: "follicular Dendritic cell sarcoma" EXACT [DOID:6262, NCIT:C9281] synonym: "follicular dendritic cell sarcoma" EXACT [MONDO:patterns/location] synonym: "follicular Dendritic cell sarcoma/tumor" EXACT [NCIT:C9281] synonym: "follicular dendritic cell tumor" EXACT [DOID:6262] +synonym: "follicular dendritic cell tumour" EXACT OMO:0003005 [] synonym: "sarcoma of follicular dendritic cell" EXACT [MONDO:patterns/sarcoma] xref: DOID:6262 {source="MONDO:equivalentTo", source="EFO:0007276"} xref: EFO:0007276 {source="MONDO:equivalentTo"} @@ -99081,6 +101716,7 @@ id: MONDO:0005775 name: G6PD deficiency def: "An X-linked genetic condition caused by alterations in the gene G6PD that result in moderately to severely decreased activity levels of the enzyme glucose-6-phosphate dehydrogenase. Most individuals with G6PD deficiency are asymptomatic. Individuals with G6PD variants that cause G6PD deficiency are at risk for acute hemolytic anemia in response to certain medication exposures, chemical exposures, infections, or consumption of fava beans." [https://www.clinicalgenome.org/affiliation/40026] synonym: "deficiency of G-6PD" EXACT [DOID:2862] +synonym: "G-6-PD variant enzyme deficiency Anaemia" EXACT OMO:0003005 [] synonym: "G-6-PD variant enzyme deficiency Anemia" EXACT [NCIT:C98933] synonym: "G6PD" EXACT ABBREVIATION [NCIT:C98933] synonym: "G6PD deficiency" EXACT [NCIT:C98933] @@ -99695,6 +102331,7 @@ synonym: "hypopharynx pharynx cancer" EXACT [MONDO:design_pattern, MONDO:pattern synonym: "hypural pharynx cancer" EXACT [MONDO:patterns/location] synonym: "malignant hypopharyngeal neoplasm" EXACT [NCIT:C7190] synonym: "malignant hypopharyngeal tumor" EXACT [DOID:8533, NCIT:C7190] +synonym: "malignant hypopharyngeal tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of hypopharynx" EXACT [DOID:8533, ICD9CM:148, NCIT:C7190] synonym: "malignant neoplasm of hypopharynx NOS" RELATED EXCLUDE [DOID:8533] synonym: "malignant neoplasm of hypopharynx, NOS" RELATED EXCLUDE [DOID:8533] @@ -99704,10 +102341,12 @@ synonym: "malignant neoplasm of other specified sites of hypopharynx" EXACT [DOI synonym: "malignant neoplasm of posterior hypopharyngeal wall" EXACT [DOID:8533] synonym: "malignant neoplasm of posterior wall of hypopharynx" EXACT [DOID:8533, MTH:U001377] synonym: "malignant neoplasm of the hypopharynx" EXACT [NCIT:C7190] -synonym: "malignant tumor of hypopharynx" EXACT [DOID:8533] -synonym: "malignant tumor of hypopharynx" EXACT [NCIT:C7190] +synonym: "malignant tumor of hypopharynx" EXACT [DOID:8533, NCIT:C7190] synonym: "malignant tumor of posterior wall of hypopharynx" EXACT [DOID:8533] synonym: "malignant tumor of the hypopharynx" EXACT [NCIT:C7190] +synonym: "malignant tumour of hypopharynx" EXACT OMO:0003005 [] +synonym: "malignant tumour of posterior wall of hypopharynx" EXACT OMO:0003005 [] +synonym: "malignant tumour of the hypopharynx" EXACT OMO:0003005 [] synonym: "pharynx cancer of hypopharynx" EXACT [MONDO:design_pattern] xref: DOID:8533 {source="MONDO:equivalentTo", source="EFO:0007321"} xref: EFO:0007321 {source="MONDO:equivalentTo"} @@ -99916,12 +102555,17 @@ synonym: "malignant intestinal neoplasm" EXACT [NCIT:C4572] synonym: "malignant intestinal neoplasms" EXACT [NCIT:C4572] synonym: "malignant intestinal tumor" EXACT [NCIT:C4572] synonym: "malignant intestinal tumors" EXACT [DOID:10155, NCIT:C4572] +synonym: "malignant intestinal tumour" EXACT OMO:0003005 [] +synonym: "malignant intestinal tumours" EXACT OMO:0003005 [] synonym: "malignant intestine neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4572] synonym: "malignant intestine tumor" EXACT [NCIT:C4572] +synonym: "malignant intestine tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of intestine" EXACT [DOID:10155, MONDO:patterns/cancer, NCIT:C4572] synonym: "malignant neoplasm of the intestine" EXACT [NCIT:C4572] synonym: "malignant tumor of intestine" EXACT [NCIT:C4572] synonym: "malignant tumor of the intestine" EXACT [NCIT:C4572] +synonym: "malignant tumour of intestine" EXACT OMO:0003005 [] +synonym: "malignant tumour of the intestine" EXACT OMO:0003005 [] xref: DOID:10155 {source="MONDO:equivalentTo", source="EFO:0007330"} xref: EFO:0007330 {source="MONDO:equivalentTo"} xref: ICD10CM:C26.0 {source="DOID:10155"} @@ -99949,12 +102593,18 @@ synonym: "endocrine pancreas cancer" NARROW [DOID:1799] synonym: "endocrine pancreas neoplasm" EXACT [] synonym: "endocrine pancreas neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "endocrine pancreas tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "endocrine pancreas tumour" EXACT OMO:0003005 [] synonym: "islet cell neoplasm" NARROW [DOID:1799] synonym: "islet cell tumor" NARROW [DOID:1799] synonym: "Islet cell tumors" NARROW [GARD:0007311] +synonym: "islet cell tumour" NARROW OMO:0003005 [] +synonym: "Islet cell tumours" NARROW OMO:0003005 [] synonym: "Islet of Langerhans tumor" RELATED [GARD:0007311] +synonym: "Islet of Langerhans tumour" RELATED OMO:0003005 [] synonym: "malignant pancreatic endocrine tumor" NARROW [DOID:1799, NCIT:C3770] +synonym: "malignant pancreatic endocrine tumour" NARROW OMO:0003005 [] synonym: "malignant tumor of endocrine pancreas" EXACT [DOID:1799] +synonym: "malignant tumour of endocrine pancreas" EXACT OMO:0003005 [] synonym: "neoplasm of endocrine pancreas" EXACT [MONDO:patterns/neoplasm] synonym: "neuroendocrine neoplasm of pancreas" RELATED [Orphanet:506052] synonym: "pancreatic endocrine neoplasm" EXACT [DOID:1799, NCIT:C27031] @@ -99962,6 +102612,7 @@ synonym: "pancreatic NEN" EXACT [Orphanet:506052] synonym: "pancreatic neuroendocrine neoplasm" EXACT [NCIT:C27031, Orphanet:506052] synonym: "PNEN" EXACT ABBREVIATION [Orphanet:506052] synonym: "tumor of endocrine pancreas" EXACT [MONDO:patterns/neoplasm] +synonym: "tumour of endocrine pancreas" EXACT OMO:0003005 [] xref: DOID:1799 {source="MONDO:equivalentTo", source="EFO:0007331"} xref: EFO:0007331 {source="MONDO:equivalentTo"} xref: ICD10CM:C25.4 {source="DOID:1799"} @@ -100011,6 +102662,7 @@ synonym: "post-encephalitic Kluver Bucy syndrome (type)" RELATED [GARD:0006840] synonym: "post-traumatic Kluver Bucy syndrome (type)" RELATED [GARD:0006840] synonym: "syndrome, Kluver-Bucy" RELATED [MESH:D020232] synonym: "temporal lobectomy behavior syndrome" RELATED [MESH:D020232] +synonym: "temporal lobectomy behaviour syndrome" RELATED OMO:0003005 [] xref: DOID:2510 {source="EFO:0007335", source="MONDO:equivalentTo"} xref: EFO:0007335 {source="MONDO:equivalentTo"} xref: MedDRA:10066431 {source="Orphanet:157823", source="Orphanet:157823/e"} @@ -100528,6 +103180,7 @@ synonym: "male reproductive system neoplasm" BROAD [DOID:3856] synonym: "malignant male reproductive organ neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant Male reproductive system neoplasm" EXACT [NCIT:C8561] synonym: "malignant Male reproductive system tumor" EXACT [NCIT:C8561] +synonym: "malignant Male reproductive system tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of male genital organ" EXACT [DOID:3856] synonym: "malignant neoplasm of male genital organ or tract" EXACT [DOID:3856] synonym: "malignant neoplasm of male genital organ, NOS" RELATED EXCLUDE [DOID:3856] @@ -100540,8 +103193,13 @@ synonym: "malignant tumor of male genital organ" EXACT [DOID:3856, MTH:U001031] synonym: "malignant tumor of Male reproductive system" EXACT [NCIT:C8561] synonym: "malignant tumor of male reproductive system" EXACT [DOID:3856, NCIT:C8561] synonym: "malignant tumor of the Male reproductive system" EXACT [NCIT:C8561] +synonym: "malignant tumour of male genital organ" EXACT OMO:0003005 [] +synonym: "malignant tumour of Male reproductive system" EXACT OMO:0003005 [] +synonym: "malignant tumour of male reproductive system" EXACT OMO:0003005 [] +synonym: "malignant tumour of the Male reproductive system" EXACT OMO:0003005 [] synonym: "neoplasm of male genital organ" BROAD [DOID:3856] synonym: "tumor of male reproductive system" BROAD [DOID:3856, NCIT:C3054] +synonym: "tumour of male reproductive system" BROAD OMO:0003005 [] xref: DOID:3856 {source="MONDO:equivalentTo", source="EFO:0007355"} xref: EFO:0007355 {source="MONDO:equivalentTo"} xref: ICD10CM:C60-C63 {source="DOID:3856"} @@ -100631,10 +103289,12 @@ def: "Cancer or tumors of the maxilla or upper jaw." [MESH:D008441] synonym: "bone of upper jaw neoplasm" EXACT [] synonym: "bone of upper jaw neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "bone of upper jaw tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "bone of upper jaw tumour" EXACT OMO:0003005 [] synonym: "maxillary cancer" RELATED [DOID:4618] synonym: "maxillary neoplasm" EXACT [DOID:4618] synonym: "neoplasm of bone of upper jaw" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of bone of upper jaw" EXACT [MONDO:patterns/neoplasm] +synonym: "tumour of bone of upper jaw" EXACT OMO:0003005 [] synonym: "upper jaw bone cancer" RELATED [DOID:4618] xref: DOID:4618 {source="MONDO:equivalentTo", source="EFO:0007360"} xref: EFO:0007360 {source="MONDO:equivalentTo"} @@ -100670,16 +103330,21 @@ synonym: "cancer of the mediastinum" EXACT [NCIT:C3549] synonym: "malignant mediastinal neoplasm" EXACT [NCIT:C3549] synonym: "malignant mediastinal neoplasm NOS" RELATED EXCLUDE [NCIT:C3549] synonym: "malignant mediastinal tumor" EXACT [NCIT:C3549] +synonym: "malignant mediastinal tumour" EXACT OMO:0003005 [] synonym: "malignant mediastinum neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of mediastinum" EXACT [MONDO:patterns/cancer, NCIT:C3549] synonym: "malignant neoplasm of the mediastinum" EXACT [NCIT:C3549] synonym: "malignant tumor of mediastinum" EXACT [NCIT:C3549] synonym: "malignant tumor of the mediastinum" EXACT [NCIT:C3549] +synonym: "malignant tumour of mediastinum" EXACT OMO:0003005 [] +synonym: "malignant tumour of the mediastinum" EXACT OMO:0003005 [] synonym: "mediastinal cancer" EXACT [NCIT:C3549] synonym: "mediastinal tumor" BROAD [DOID:5559, NCIT:C3221] +synonym: "mediastinal tumour" BROAD OMO:0003005 [] synonym: "mediastinum cancer" EXACT [DOID:5559, MONDO:patterns/location] synonym: "neoplasm of mediastinum" RELATED EXCLUDE [DOID:5559] synonym: "tumor of mediastinum" BROAD [DOID:5559] +synonym: "tumour of mediastinum" BROAD OMO:0003005 [] xref: DOID:5559 {source="MONDO:equivalentTo", source="EFO:0007362"} xref: EFO:0007362 {source="MONDO:equivalentTo"} xref: ICD10CM:C38.3 {source="DOID:5559"} @@ -100795,6 +103460,7 @@ name: miliary tuberculosis def: "I would say the hematogenous widespread dissemination of tuberculosis in the body. The term derives from the chest X-ray image of the tiny (1-5 mm) tuberculosis lesions which are seen through out the lung parenchyma." [NCIT:P378] synonym: "acute miliary tuberculosis" EXACT [DOID:9861, ICD9CM:018.0] synonym: "disseminated tuberculosis" EXACT [DOID:9861] +synonym: "generalised tuberculosis" EXACT OMO:0003005 [] synonym: "generalized tuberculosis" EXACT [DOID:9861] synonym: "tuberculosis miliaris disseminata" EXACT [DOID:9861] xref: DOID:9861 {source="EFO:0007368", source="MONDO:equivalentTo"} @@ -100923,6 +103589,8 @@ synonym: "malignant mixed cancer" EXACT [DOID:154] synonym: "malignant mixed neoplasm" EXACT [DOID:154, MONDO:0006293, NCIT:C3729] synonym: "malignant mixed tumor" EXACT [DOID:154, MESH:D018198, NCIT:C3729] synonym: "malignant mixed tumors" RELATED [MESH:D018198] +synonym: "malignant mixed tumour" EXACT OMO:0003005 [] +synonym: "malignant mixed tumours" RELATED OMO:0003005 [] synonym: "mixed cell type cancer" BROAD [DOID:154] synonym: "mixed neoplasm" BROAD [DOID:154] synonym: "mixed neoplasm, malignant" EXACT [MONDO:patterns/malignant] @@ -100931,6 +103599,7 @@ synonym: "mixed tumor, malignant" EXACT [DOID:154] synonym: "mixed tumor, malignant (morphologic abnormality)" EXACT [DOID:154] synonym: "mixed tumor, malignant, NOS (morphologic abnormality)" EXACT [DOID:154] synonym: "mixed tumors, malignant" RELATED [MESH:D018198] +synonym: "mixed tumour" BROAD OMO:0003005 [] synonym: "tumor, malignant mixed" RELATED [MESH:D018198] synonym: "tumor, mixed, malignant" EXACT [NCIT:C3729] synonym: "tumors, malignant mixed" RELATED [MESH:D018198] @@ -101112,11 +103781,14 @@ synonym: "cancer of muscle structure" EXACT [MONDO:patterns/cancer] synonym: "malignant muscle neoplasm" EXACT [NCIT:C4883] synonym: "malignant muscle structure neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant muscle tumor" EXACT [NCIT:C4883] +synonym: "malignant muscle tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of muscle" EXACT [DOID:4045, NCIT:C4883] synonym: "malignant neoplasm of muscle structure" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of the muscle" EXACT [NCIT:C4883] synonym: "malignant tumor of muscle" EXACT [DOID:4045, NCIT:C4883] synonym: "malignant tumor of the muscle" EXACT [DOID:4045, NCIT:C4883] +synonym: "malignant tumour of muscle" EXACT OMO:0003005 [] +synonym: "malignant tumour of the muscle" EXACT OMO:0003005 [] synonym: "muscle structure cancer" EXACT [MONDO:patterns/location] synonym: "myosarcoma" EXACT [DOID:4045, NCIT:C4883] xref: DOID:4045 {source="MONDO:equivalentTo", source="EFO:0007384"} @@ -101210,6 +103882,7 @@ is_a: MONDO:0005249 {source="EFO:0007387", source="MESH:D011019/inferred", sourc id: MONDO:0005868 name: myelophthisic anemia def: "A laboratory test result indicating an abnormal amount of circulating nucleated red blood cells and immature red blood cells." [NCIT:P378] +synonym: "anaemia LEUKOERYTHROBLASTIC" EXACT OMO:0003005 [] synonym: "anemia LEUKOERYTHROBLASTIC" EXACT [DOID:2354, MTH:NOCODE] synonym: "anemia, leukoerythroblastic" EXACT [DOID:2354] synonym: "leukoerythroblastic reaction" EXACT [NCIT:C36218] @@ -101286,15 +103959,20 @@ synonym: "malignant neoplasm of nervous system" EXACT [DOID:3093, MONDO:patterns synonym: "malignant neoplasm of the nervous system" EXACT [NCIT:C4788] synonym: "malignant nervous system neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4788] synonym: "malignant nervous system tumor" EXACT [NCIT:C4788] +synonym: "malignant nervous system tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of nervous system" EXACT [NCIT:C4788] synonym: "malignant tumor of the nervous system" EXACT [NCIT:C4788] +synonym: "malignant tumour of nervous system" EXACT OMO:0003005 [] +synonym: "malignant tumour of the nervous system" EXACT OMO:0003005 [] synonym: "neoplasm of nervous system" BROAD EXCLUDE [DOID:3093] synonym: "nervous system cancer" EXACT [MONDO:patterns/location] synonym: "nervous system neoplasm" BROAD [DOID:3093] synonym: "nervous system neoplasms, malignant" EXACT [NCIT:C4788] synonym: "neural neoplasm" BROAD [DOID:3093] synonym: "neural tumor" BROAD [DOID:3093] +synonym: "neural tumour" BROAD OMO:0003005 [] synonym: "tumor of the nervous system" BROAD [DOID:3093, NCIT:C3268] +synonym: "tumour of the nervous system" BROAD OMO:0003005 [] xref: DOID:3093 {source="MONDO:equivalentTo", source="EFO:0007392"} xref: EFO:0007392 {source="MONDO:equivalentTo"} xref: ICD9:192 {source="DOID:3093"} @@ -101667,8 +104345,10 @@ synonym: "islet cell cancer" EXACT [NCIT:C3770] synonym: "islet cell carcinoma" EXACT [NCIT:C3770] synonym: "islet cell carcinoma (morphologic abnormality)" EXACT [DOID:1798] synonym: "malignant islet cell tumor" EXACT [NCIT:C3770] +synonym: "malignant islet cell tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of islets of Langerhans" EXACT [DOID:1798] synonym: "malignant pancreatic endocrine tumor" EXACT [NCIT:C3770] +synonym: "malignant pancreatic endocrine tumour" EXACT OMO:0003005 [] synonym: "neuroendocrine carcinoma of pancreas" RELATED [Orphanet:506098] synonym: "pancreatic endocrine cancer" EXACT [NCIT:C3770] synonym: "pancreatic endocrine carcinoma" EXACT [NCIT:C3770] @@ -102538,6 +105218,7 @@ id: MONDO:0005937 name: REM sleep behavior disorder def: "A disorder characterized by episodes of vigorous and often violent motor activity during rem sleep (sleep, rem). The affected individual may inflict self injury or harm others, and is difficult to awaken from this condition. Episodes are usually followed by a vivid recollection of a dream that is consistent with the aggressive behavior. This condition primarily affects adult males. (From Adams et al., Principles of Neurology, 6th ed, p393)" [MESH:D020187] synonym: "rapid eye movement sleep behavior disorder" EXACT [DOID:9091] +synonym: "rapid eye movement sleep behaviour disorder" EXACT OMO:0003005 [] xref: DOID:9091 {source="MONDO:equivalentTo", source="EFO:0007462"} xref: EFO:0007462 {source="MONDO:equivalentTo"} xref: ICD10CM:G47.52 {source="DOID:9091", source="MONDO:equivalentTo"} @@ -102616,11 +105297,13 @@ synonym: "malignant retroperitoneal cancer" RELATED [DOID:5875] synonym: "malignant retroperitoneal neoplasm" EXACT [NCIT:C3537] synonym: "malignant retroperitoneal space neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of peritoneum and retroperitoneum" EXACT [DOID:5875] +synonym: "malignant tumour of peritoneum and retroperitoneum" EXACT OMO:0003005 [] synonym: "neoplasm of retroperitoneum" BROAD [DOID:5875] synonym: "neoplasm of the retroperitoneum" BROAD [DOID:5875] synonym: "retroperitoneal neoplasm" BROAD [DOID:5875, NCIT:C3357] synonym: "retroperitoneal space cancer" EXACT [] synonym: "tumor of retroperitoneum" BROAD [DOID:5875] +synonym: "tumour of retroperitoneum" BROAD OMO:0003005 [] xref: DOID:5875 {source="EFO:0007466", source="MONDO:equivalentTo"} xref: EFO:0007466 {source="MONDO:equivalentTo"} xref: ICD10CM:C48 {source="DOID:5875"} @@ -103090,9 +105773,11 @@ synonym: "malignant neoplasm of the spleen" EXACT [NCIT:C3539] synonym: "malignant spleen neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant splenic neoplasm" EXACT [NCIT:C3539] synonym: "malignant splenic tumor" EXACT [DOID:672, NCIT:C3539] -synonym: "malignant tumor of spleen" EXACT [NCIT:C3539] -synonym: "malignant tumor of spleen" EXACT [DOID:672] +synonym: "malignant splenic tumour" EXACT OMO:0003005 [] +synonym: "malignant tumor of spleen" EXACT [DOID:672, NCIT:C3539] synonym: "malignant tumor of the spleen" EXACT [NCIT:C3539] +synonym: "malignant tumour of spleen" EXACT OMO:0003005 [] +synonym: "malignant tumour of the spleen" EXACT OMO:0003005 [] synonym: "spleen cancer" EXACT [MONDO:patterns/location, NCIT:C3539] synonym: "spleen neoplasm" BROAD [DOID:672] synonym: "splenic cancer" EXACT [NCIT:C3539] @@ -103212,6 +105897,7 @@ id: MONDO:0005971 name: staphyloenterotoxemia def: "Food poisoning that is caused by Staphylococcal infection." [NCIT:C35037] synonym: "staphylococcal food poisoning" EXACT [DOID:96, ICD9CM:005.0, NCIT:C35037] +synonym: "staphylococcal toxaemia due to food" EXACT OMO:0003005 [] synonym: "staphylococcal toxemia due to food" EXACT [DOID:96] synonym: "staphyloenterotoxicosis" EXACT [DOID:96] xref: DOID:96 {source="MONDO:equivalentTo", source="EFO:0007497"} @@ -104645,6 +107331,7 @@ synonym: "GRCT" RELATED ABBREVIATION [ONCOTREE:GRCT] synonym: "malignant granulosa cell neoplasm" RELATED EXCLUDE [DOID:2999] synonym: "neoplasm of granulosa cell" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of granulosa cell" EXACT [MONDO:patterns/neoplasm] +synonym: "tumour of granulosa cell" EXACT OMO:0003005 [] xref: DOID:2999 {source="EFO:1000032", source="MONDO:equivalentTo"} xref: EFO:1000032 {source="MONDO:equivalentTo"} xref: MESH:D006106 {source="EFO:1000032", source="MONDO:equivalentTo", source="DOID:2999"} @@ -104729,10 +107416,15 @@ def: "A neuroendocrine neoplasm that arises from the lung. It is characterized b synonym: "carcinoid tumor (disease) of lung" EXACT [] synonym: "carcinoid tumor of lung" EXACT [NCIT:C4038] synonym: "carcinoid tumor of the lung" EXACT [NCIT:C4038] +synonym: "carcinoid tumour (disease) of lung" EXACT OMO:0003005 [] +synonym: "carcinoid tumour of lung" EXACT OMO:0003005 [] +synonym: "carcinoid tumour of the lung" EXACT OMO:0003005 [] synonym: "lung carcinoid" RELATED [ONCOTREE:LUCA] synonym: "lung carcinoid tumor" EXACT [NCIT:C4038] synonym: "lung carcinoid tumor (disease)" EXACT [MONDO:patterns/location] +synonym: "lung carcinoid tumour (disease)" EXACT OMO:0003005 [] synonym: "pulmonary carcinoid tumor" EXACT [NCIT:C4038] +synonym: "pulmonary carcinoid tumour" EXACT OMO:0003005 [] xref: EFO:1000037 {source="MONDO:equivalentTo"} xref: NCIT:C4038 {source="MONDO:equivalentTo", source="EFO:1000037", source="MONDO:exact-label-match"} xref: ONCOTREE:LUCA {source="MONDO:equivalentTo"} @@ -104981,9 +107673,13 @@ synonym: "reproductive neoplasm" EXACT [NCIT:C3674] synonym: "reproductive system neoplasm" EXACT [NCIT:C3674] synonym: "reproductive system neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "reproductive system tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3674] +synonym: "reproductive system tumour" EXACT OMO:0003005 [] synonym: "reproductive tumor" EXACT [NCIT:C3674] +synonym: "reproductive tumour" EXACT OMO:0003005 [] synonym: "tumor of reproductive system" EXACT [MONDO:patterns/neoplasm, NCIT:C3674] synonym: "tumor of the reproductive system" EXACT [NCIT:C3674] +synonym: "tumour of reproductive system" EXACT OMO:0003005 [] +synonym: "tumour of the reproductive system" EXACT OMO:0003005 [] xref: EFO:1000051 {source="MONDO:equivalentTo"} xref: NCIT:C3674 {source="EFO:1000051", source="MONDO:equivalentTo"} xref: UMLS:C0178830 {source="EFO:1000051", source="MONDO:equivalentTo", source="NCIT:C3674"} @@ -104997,22 +107693,33 @@ id: MONDO:0006055 name: sex cord-stromal tumor def: "A neoplasm involving a sex cord." [MONDO:patterns/neoplasm] synonym: "malignant testicular sex cord-stromal tumor" NARROW [DOID:192] +synonym: "malignant testicular sex cord-stromal tumour" NARROW OMO:0003005 [] synonym: "neoplasm of sex cord" EXACT [MONDO:patterns/neoplasm] synonym: "sex cord neoplasm" EXACT [] synonym: "Sex cord stromal tumor" EXACT [DOID:192] +synonym: "Sex cord stromal tumour" EXACT OMO:0003005 [] synonym: "sex cord tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3794] +synonym: "sex cord tumour" EXACT OMO:0003005 [] synonym: "sex cord-gonadal stromal tumor" EXACT [NCIT:C3794] +synonym: "sex cord-gonadal stromal tumour" EXACT OMO:0003005 [] synonym: "Sex cord-stromal neoplasm" EXACT [DOID:192, NCIT:C3794] synonym: "Sex cord-stromal tumor" EXACT [DOID:192, MTH:NOCODE, NCIT:C3794] synonym: "sex cord-stromal tumor" EXACT [MONDO:0005958, NCIT:C3794] synonym: "Sex cord-stromal tumor, no ICD-O subtype" EXACT [DOID:192] synonym: "Sex cord-stromal tumor, no ICD-O subtype (morphologic abnormality)" EXACT [DOID:192] +synonym: "Sex cord-stromal tumour" EXACT OMO:0003005 [] +synonym: "specialised gonadal neoplasm" EXACT OMO:0003005 [] +synonym: "specialised gonadal neoplasm (morphologic abnormality)" EXACT OMO:0003005 [] +synonym: "specialised gonadal neoplasm NOS (morphologic abnormality)" EXACT OMO:0003005 [] +synonym: "specialised gonadal tumour" EXACT OMO:0003005 [] +synonym: "specialised gonadal tumour (qualifier value)" EXACT OMO:0003005 [] synonym: "specialized gonadal neoplasm" EXACT [DOID:192] synonym: "specialized gonadal neoplasm (morphologic abnormality)" EXACT [DOID:192] synonym: "specialized gonadal neoplasm NOS (morphologic abnormality)" EXACT [DOID:192] synonym: "specialized gonadal tumor" EXACT [DOID:192] synonym: "specialized gonadal tumor (qualifier value)" EXACT [DOID:192] synonym: "tumor of sex cord" EXACT [MONDO:patterns/neoplasm] +synonym: "tumour of sex cord" EXACT OMO:0003005 [] xref: DOID:192 {source="MONDO:equivalentTo", source="EFO:0007483"} xref: EFO:0007483 {source="MONDO:equivalentTo"} xref: EFO:1000052 {source="MONDO:equivalentTo"} @@ -105074,7 +107781,9 @@ name: Wilms tumor def: "An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix." [NCIT:C3267] synonym: "Wilms tumor" EXACT [MONDO:0021044, NCIT:C3267] synonym: "Wilms tumor (nephroblastoma)" NARROW [NCIT:C3267] +synonym: "Wilms tumour (nephroblastoma)" NARROW OMO:0003005 [] synonym: "Wilms' tumor" EXACT [NCIT:C3267] +synonym: "Wilms' tumour" EXACT OMO:0003005 [] xref: EFO:1000056 {source="MONDO:equivalentObsolete"} xref: MESH:D009396 {source="https://orcid.org/0000-0003-1967-3726", source="EFO:1000056", source="MONDO:equivalentTo"} xref: NCIT:C3267 {source="EFO:1000056", source="MONDO:equivalentTo"} @@ -105235,39 +107944,59 @@ synonym: "malignant ACTH producing neoplasm of the pituitary" EXACT [NCIT:C5964] synonym: "malignant ACTH producing neoplasm of the pituitary gland" EXACT [NCIT:C5964] synonym: "malignant ACTH producing pituitary gland neoplasm" EXACT [NCIT:C5964] synonym: "malignant ACTH producing pituitary gland tumor" EXACT [NCIT:C5964] +synonym: "malignant ACTH producing pituitary gland tumour" EXACT OMO:0003005 [] synonym: "malignant ACTH producing pituitary neoplasm" EXACT [NCIT:C5964] synonym: "malignant ACTH producing pituitary tumor" EXACT [NCIT:C5964] +synonym: "malignant ACTH producing pituitary tumour" EXACT OMO:0003005 [] synonym: "malignant ACTH producing tumor of pituitary" EXACT [NCIT:C5964] synonym: "malignant ACTH producing tumor of pituitary gland" EXACT [NCIT:C5964] synonym: "malignant ACTH producing tumor of the pituitary" EXACT [NCIT:C5964] synonym: "malignant ACTH producing tumor of the pituitary gland" EXACT [NCIT:C5964] +synonym: "malignant ACTH producing tumour of pituitary" EXACT OMO:0003005 [] +synonym: "malignant ACTH producing tumour of pituitary gland" EXACT OMO:0003005 [] +synonym: "malignant ACTH producing tumour of the pituitary" EXACT OMO:0003005 [] +synonym: "malignant ACTH producing tumour of the pituitary gland" EXACT OMO:0003005 [] synonym: "malignant ACTH secreting neoplasm of pituitary" EXACT [NCIT:C5964] synonym: "malignant ACTH secreting neoplasm of pituitary gland" EXACT [NCIT:C5964] synonym: "malignant ACTH secreting neoplasm of the pituitary" EXACT [NCIT:C5964] synonym: "malignant ACTH secreting neoplasm of the pituitary gland" EXACT [NCIT:C5964] synonym: "malignant ACTH secreting pituitary gland tumor" EXACT [NCIT:C5964] +synonym: "malignant ACTH secreting pituitary gland tumour" EXACT OMO:0003005 [] synonym: "malignant ACTH secreting pituitary neoplasm" EXACT [NCIT:C5964] synonym: "malignant ACTH secreting pituitary tumor" EXACT [NCIT:C5964] +synonym: "malignant ACTH secreting pituitary tumour" EXACT OMO:0003005 [] synonym: "malignant ACTH secreting tumor of pituitary" EXACT [NCIT:C5964] synonym: "malignant ACTH secreting tumor of pituitary gland" EXACT [NCIT:C5964] synonym: "malignant ACTH secreting tumor of the pituitary" EXACT [NCIT:C5964] synonym: "malignant ACTH secreting tumor of the pituitary gland" EXACT [NCIT:C5964] +synonym: "malignant ACTH secreting tumour of pituitary" EXACT OMO:0003005 [] +synonym: "malignant ACTH secreting tumour of pituitary gland" EXACT OMO:0003005 [] +synonym: "malignant ACTH secreting tumour of the pituitary" EXACT OMO:0003005 [] +synonym: "malignant ACTH secreting tumour of the pituitary gland" EXACT OMO:0003005 [] synonym: "malignant adrenocorticotropin producing neoplasm of pituitary" EXACT [NCIT:C5964] synonym: "malignant adrenocorticotropin producing neoplasm of pituitary gland" EXACT [NCIT:C5964] synonym: "malignant adrenocorticotropin producing neoplasm of the pituitary" EXACT [NCIT:C5964] synonym: "malignant adrenocorticotropin producing neoplasm of the pituitary gland" EXACT [NCIT:C5964] synonym: "malignant adrenocorticotropin producing pituitary gland neoplasm" EXACT [NCIT:C5964] synonym: "malignant adrenocorticotropin producing pituitary gland tumor" EXACT [NCIT:C5964] +synonym: "malignant adrenocorticotropin producing pituitary gland tumour" EXACT OMO:0003005 [] synonym: "malignant adrenocorticotropin producing pituitary neoplasm" EXACT [NCIT:C5964] synonym: "malignant adrenocorticotropin producing pituitary tumor" EXACT [NCIT:C5964] +synonym: "malignant adrenocorticotropin producing pituitary tumour" EXACT OMO:0003005 [] synonym: "malignant adrenocorticotropin producing tumor of pituitary" EXACT [NCIT:C5964] synonym: "malignant adrenocorticotropin producing tumor of pituitary gland" EXACT [NCIT:C5964] synonym: "malignant adrenocorticotropin producing tumor of the pituitary" EXACT [NCIT:C5964] synonym: "malignant adrenocorticotropin producing tumor of the pituitary gland" EXACT [NCIT:C5964] +synonym: "malignant adrenocorticotropin producing tumour of pituitary" EXACT OMO:0003005 [] +synonym: "malignant adrenocorticotropin producing tumour of pituitary gland" EXACT OMO:0003005 [] +synonym: "malignant adrenocorticotropin producing tumour of the pituitary" EXACT OMO:0003005 [] +synonym: "malignant adrenocorticotropin producing tumour of the pituitary gland" EXACT OMO:0003005 [] synonym: "malignant adrenocorticotropin secreting pituitary gland neoplasm" EXACT [NCIT:C5964] synonym: "malignant adrenocorticotropin secreting pituitary gland tumor" EXACT [NCIT:C5964] +synonym: "malignant adrenocorticotropin secreting pituitary gland tumour" EXACT OMO:0003005 [] synonym: "malignant adrenocorticotropin secreting pituitary neoplasm" EXACT [NCIT:C5964] synonym: "malignant adrenocorticotropin secreting pituitary tumor" EXACT [NCIT:C5964] +synonym: "malignant adrenocorticotropin secreting pituitary tumour" EXACT OMO:0003005 [] synonym: "malignant corticotropin secreting pituitary gland neoplasm" EXACT [NCIT:C5964] synonym: "malignant Corticotropinoma of pituitary" EXACT [NCIT:C5964] synonym: "malignant Corticotropinoma of pituitary gland" EXACT [NCIT:C5964] @@ -105300,6 +108029,7 @@ synonym: "adenofibroma, benign" EXACT [NCIT:C8984] synonym: "adenofibroma, no ICD-O subtype" EXACT [DOID:2683] synonym: "adenofibroma, no ICD-O subtype (morphologic abnormality)" EXACT [DOID:2683] synonym: "benign mixed Muellerian tumor" EXACT [NCIT:C8984] +synonym: "benign mixed Muellerian tumour" EXACT OMO:0003005 [] synonym: "female reproductive system adenofibroma" EXACT [NCIT:C8984] xref: DOID:2683 {source="MONDO:equivalentTo"} xref: EFO:1000070 {source="MONDO:equivalentTo"} @@ -105613,16 +108343,24 @@ id: MONDO:0006091 name: appendix neuroendocrine tumor G1 def: "A well differentiated, low grade tumor with neuroendocrine differentiation that arises from the appendix. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." [NCIT:P378] synonym: "appendiceal carcinoid tumor" EXACT [NCIT:C4138] +synonym: "appendiceal carcinoid tumour" EXACT OMO:0003005 [] synonym: "appendix carcinoid endocrine tumor" RELATED [DOID:0050911] +synonym: "appendix carcinoid endocrine tumour" RELATED OMO:0003005 [] synonym: "appendix carcinoid tumor" EXACT [MONDO:0000526] +synonym: "appendix carcinoid tumour" EXACT OMO:0003005 [] synonym: "appendix NET G1" EXACT [NCIT:C4138] synonym: "appendix NET G1 (carcinoid)" EXACT [NCIT:C4138] synonym: "appendix neuroendocrine tumor G1 (carcinoid)" EXACT [NCIT:C4138] +synonym: "appendix neuroendocrine tumour G1 (carcinoid)" EXACT OMO:0003005 [] synonym: "carcinoid tumor of appendix" EXACT [NCIT:C4138] synonym: "carcinoid tumor of the appendix" EXACT [NCIT:C4138] +synonym: "carcinoid tumour of appendix" EXACT OMO:0003005 [] +synonym: "carcinoid tumour of the appendix" EXACT OMO:0003005 [] synonym: "grade 1 neuroendocrine neoplasm of vermiform appendix" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] synonym: "vermiform appendix carcinoid tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] synonym: "vermiform appendix carcinoid tumor (disease)" EXACT [MONDO:patterns/location] +synonym: "vermiform appendix carcinoid tumour" EXACT OMO:0003005 [] +synonym: "vermiform appendix carcinoid tumour (disease)" EXACT OMO:0003005 [] synonym: "vermiform appendix NET G1" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] synonym: "vermiform appendix neuroendocrine neoplasm G1" EXACT [] synonym: "vermiform appendix neuroendocrine tumor, well differentiated, low grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] @@ -105662,12 +108400,16 @@ name: ascending colon neuroendocrine tumor G1 def: "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ascending colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." [NCIT:C6427] synonym: "ascending colon carcinoid tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1, NCIT:C6427] synonym: "ascending colon carcinoid tumor (disease)" EXACT [MONDO:patterns/location] +synonym: "ascending colon carcinoid tumour" EXACT OMO:0003005 [] +synonym: "ascending colon carcinoid tumour (disease)" EXACT OMO:0003005 [] synonym: "ascending colon NET G1" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1, NCIT:C6427] synonym: "ascending colon neuroendocrine neoplasm G1" EXACT [] synonym: "ascending colon neuroendocrine tumor G1" EXACT [NCIT:C6427] synonym: "ascending colon neuroendocrine tumor, well differentiated, low grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] synonym: "carcinoid tumor of ascending colon" EXACT [NCIT:C6427] synonym: "carcinoid tumor of the ascending colon" EXACT [NCIT:C6427] +synonym: "carcinoid tumour of ascending colon" EXACT OMO:0003005 [] +synonym: "carcinoid tumour of the ascending colon" EXACT OMO:0003005 [] synonym: "grade 1 neuroendocrine neoplasm of ascending colon" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] xref: EFO:1000094 {source="MONDO:equivalentTo"} xref: NCIT:C6427 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000094"} @@ -105688,9 +108430,12 @@ def: "A primitive neuroectodermal tumor (small round blue cell tumor) of the tho comment: Editor note: in DO this is classified as Ewing sarcoma but we follow NCIT in placing as sibling synonym: "Askin tumor" EXACT [NCIT:C7542] synonym: "Askin's tumor" EXACT [DOID:0050608, NCIT:C7542] +synonym: "Askin's tumour" EXACT OMO:0003005 [] synonym: "peripheral neuroectodermal tumor of thoracopulmonary region" EXACT [NCIT:C7542] +synonym: "peripheral neuroectodermal tumour of thoracopulmonary region" EXACT OMO:0003005 [] synonym: "PNET of thoracopulmonary region" EXACT [NCIT:C7542] synonym: "small cell tumor of thoracopulmonary region" EXACT [NCIT:C7542] +synonym: "small cell tumour of thoracopulmonary region" EXACT OMO:0003005 [] xref: DOID:0050608 {source="MONDO:equivalentTo"} xref: EFO:1000095 {source="MONDO:equivalentTo"} xref: ICDO:9365/3 {source="NCIT:C7542"} @@ -105706,6 +108451,7 @@ name: atypical carcinoid tumor def: "A carcinoid tumor characterized by a high mitotic rate, often associated with the presence of necrosis and nuclear pleomorphism." [NCIT:C72074] synonym: "atypical carcinoid tumor" EXACT [NCIT:C72074] synonym: "malignant carcinoid tumor" EXACT [NCIT:C72074] +synonym: "malignant carcinoid tumour" EXACT OMO:0003005 [] xref: EFO:1000097 {source="MONDO:equivalentTo"} xref: NCIT:C72074 {source="EFO:1000097", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: SCTID:445238008 {source="MONDO:equivalentTo"} @@ -105836,12 +108582,16 @@ name: benign conjunctival neoplasm def: "Abnormal growth of the cells of the conjunctiva without malignant characteristics." [NCIT:C3622] synonym: "benign conjunctiva neoplasm" EXACT [NCIT:C3622] synonym: "benign conjunctiva tumor" EXACT [NCIT:C3622] +synonym: "benign conjunctiva tumour" EXACT OMO:0003005 [] synonym: "benign conjunctival neoplasm" EXACT [NCIT:C3622] synonym: "benign conjunctival tumor" EXACT [NCIT:C3622] +synonym: "benign conjunctival tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of conjunctiva" EXACT [NCIT:C3622] synonym: "benign neoplasm of the conjunctiva" EXACT [NCIT:C3622] synonym: "benign tumor of conjunctiva" EXACT [NCIT:C3622] synonym: "benign tumor of the conjunctiva" EXACT [NCIT:C3622] +synonym: "benign tumour of conjunctiva" EXACT OMO:0003005 [] +synonym: "benign tumour of the conjunctiva" EXACT OMO:0003005 [] synonym: "conjunctiva benign neoplasm" EXACT [MONDO:patterns/location] xref: EFO:1000110 {source="MONDO:equivalentTo"} xref: NCIT:C3622 {source="EFO:1000110", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -105860,8 +108610,11 @@ synonym: "benign neoplasm of smooth muscle" EXACT [NCIT:C6510] synonym: "benign neoplasm of the smooth muscle" EXACT [NCIT:C6510] synonym: "benign smooth muscle neoplasm" EXACT [NCIT:C6510] synonym: "benign smooth muscle tumor" EXACT [NCIT:C6510] +synonym: "benign smooth muscle tumour" EXACT OMO:0003005 [] synonym: "benign tumor of smooth muscle" EXACT [NCIT:C6510] synonym: "benign tumor of the smooth muscle" EXACT [NCIT:C6510] +synonym: "benign tumour of smooth muscle" EXACT OMO:0003005 [] +synonym: "benign tumour of the smooth muscle" EXACT OMO:0003005 [] synonym: "smooth muscle tissue benign neoplasm" EXACT [MONDO:patterns/location] xref: EFO:1000121 {source="MONDO:equivalentTo"} xref: NCIT:C6510 {source="EFO:1000121", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -105882,13 +108635,19 @@ synonym: "benign neoplasm of thyroid gland" EXACT [NCIT:C3628] synonym: "benign neoplasm of thyroid glands" EXACT [NCIT:C3628] synonym: "benign thyroid gland neoplasm" EXACT [NCIT:C3628] synonym: "benign thyroid gland tumor" EXACT [NCIT:C3628] +synonym: "benign thyroid gland tumour" EXACT OMO:0003005 [] synonym: "benign thyroid neoplasm" EXACT [NCIT:C3628] synonym: "benign thyroid neoplasm NOS" RELATED EXCLUDE [NCIT:C3628] synonym: "benign thyroid tumor" EXACT [NCIT:C3628] +synonym: "benign thyroid tumour" EXACT OMO:0003005 [] synonym: "benign tumor of the thyroid" EXACT [NCIT:C3628] synonym: "benign tumor of the thyroid gland" EXACT [NCIT:C3628] synonym: "benign tumor of thyroid" EXACT [NCIT:C3628] synonym: "benign tumor of thyroid gland" EXACT [NCIT:C3628] +synonym: "benign tumour of the thyroid" EXACT OMO:0003005 [] +synonym: "benign tumour of the thyroid gland" EXACT OMO:0003005 [] +synonym: "benign tumour of thyroid" EXACT OMO:0003005 [] +synonym: "benign tumour of thyroid gland" EXACT OMO:0003005 [] synonym: "thyroid gland benign neoplasm" EXACT [MONDO:patterns/location] synonym: "thyroid neoplasm, benign" EXACT [NCIT:C3628] xref: EFO:1000122 {source="MONDO:equivalentTo"} @@ -105979,6 +108738,7 @@ def: "A multinodular intermediate fibroblastic neoplasm arising from the bladder synonym: "bladder inflammatory myofibroblastic neoplasm" EXACT [NCIT:C6177] synonym: "bladder inflammatory myofibroblastic tumor" EXACT [NCIT:C6177] synonym: "inflammatory myofibroblastic bladder tumor" RELATED [ONCOTREE:IMTB] +synonym: "inflammatory myofibroblastic bladder tumour" RELATED OMO:0003005 [] synonym: "inflammatory myofibroblastic neoplasm of bladder" EXACT [NCIT:C6177] synonym: "inflammatory myofibroblastic neoplasm of the bladder" EXACT [NCIT:C6177] synonym: "inflammatory myofibroblastic neoplasm of the urinary bladder" EXACT [NCIT:C6177] @@ -105987,8 +108747,13 @@ synonym: "inflammatory myofibroblastic tumor of bladder" EXACT [NCIT:C6177] synonym: "inflammatory myofibroblastic tumor of the bladder" EXACT [NCIT:C6177] synonym: "inflammatory myofibroblastic tumor of the urinary bladder" EXACT [NCIT:C6177] synonym: "inflammatory myofibroblastic tumor of urinary bladder" EXACT [NCIT:C6177] +synonym: "inflammatory myofibroblastic tumour of bladder" EXACT OMO:0003005 [] +synonym: "inflammatory myofibroblastic tumour of the bladder" EXACT OMO:0003005 [] +synonym: "inflammatory myofibroblastic tumour of the urinary bladder" EXACT OMO:0003005 [] +synonym: "inflammatory myofibroblastic tumour of urinary bladder" EXACT OMO:0003005 [] synonym: "urinary bladder inflammatory myofibroblastic neoplasm" EXACT [NCIT:C6177] synonym: "urinary bladder inflammatory myofibroblastic tumor" EXACT [MONDO:patterns/location, NCIT:C6177] +synonym: "urinary bladder inflammatory myofibroblastic tumour" EXACT OMO:0003005 [] xref: EFO:1000127 {source="MONDO:equivalentTo"} xref: NCIT:C6177 {source="MONDO:equivalentTo", source="EFO:1000127", source="MONDO:exact-label-match"} xref: ONCOTREE:IMTB {source="MONDO:equivalentTo"} @@ -106017,15 +108782,23 @@ def: "An advanced phase of chronic myelogenous leukemia. It is characterized by: synonym: "blast crises" RELATED [MESH:D001752] synonym: "blast crisis" EXACT [NCIT:C9110] synonym: "blast phase" RELATED [MESH:D001752] +synonym: "blast phase chronic granulocytic leukaemia" EXACT OMO:0003005 [] synonym: "blast phase chronic granulocytic leukemia" EXACT [NCIT:C9110] +synonym: "blast phase chronic myelocytic leukaemia" EXACT OMO:0003005 [] synonym: "blast phase chronic myelocytic leukemia" EXACT [NCIT:C9110] +synonym: "blast phase chronic myelogenous leukaemia" EXACT OMO:0003005 [] synonym: "blast phase chronic myelogenous leukemia" EXACT [NCIT:C9110] +synonym: "blast phase chronic myeloid leukaemia" EXACT OMO:0003005 [] synonym: "blast phase chronic myeloid leukemia" EXACT [NCIT:C9110] synonym: "blast phase CML" EXACT [NCIT:C9110] synonym: "blast phases" RELATED [MESH:D001752] +synonym: "blastic phase chronic granulocytic leukaemia" EXACT OMO:0003005 [] synonym: "blastic phase chronic granulocytic leukemia" EXACT [NCIT:C9110] +synonym: "blastic phase chronic myelocytic leukaemia" EXACT OMO:0003005 [] synonym: "blastic phase chronic myelocytic leukemia" EXACT [NCIT:C9110] +synonym: "blastic phase chronic myelogenous leukaemia" EXACT OMO:0003005 [] synonym: "blastic phase chronic myelogenous leukemia" EXACT [NCIT:C9110] +synonym: "blastic phase chronic myeloid leukaemia" EXACT OMO:0003005 [] synonym: "blastic phase chronic myeloid leukemia" EXACT [NCIT:C9110] synonym: "blastic phase CML" EXACT [NCIT:C9110] synonym: "crises, blast" RELATED [MESH:D001752] @@ -106162,15 +108935,22 @@ id: MONDO:0006126 name: cecum neuroendocrine tumor G1 def: "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the cecum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." [NCIT:C5501] synonym: "caecal carcinoid tumor" EXACT [NCIT:C5501] +synonym: "caecal carcinoid tumour" EXACT OMO:0003005 [] synonym: "caecum carcinoid tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1, NCIT:C5501] synonym: "caecum carcinoid tumor (disease)" EXACT [MONDO:patterns/location] +synonym: "caecum carcinoid tumour" EXACT OMO:0003005 [] +synonym: "caecum carcinoid tumour (disease)" EXACT OMO:0003005 [] synonym: "caecum NET G1" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] synonym: "caecum neuroendocrine neoplasm G1" EXACT [] synonym: "caecum neuroendocrine tumor, well differentiated, low grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] synonym: "carcinoid tumor of cecum" EXACT [NCIT:C5501] synonym: "carcinoid tumor of the cecum" EXACT [NCIT:C5501] +synonym: "carcinoid tumour of cecum" EXACT OMO:0003005 [] +synonym: "carcinoid tumour of the cecum" EXACT OMO:0003005 [] synonym: "cecal carcinoid tumor" EXACT [NCIT:C5501] +synonym: "cecal carcinoid tumour" EXACT OMO:0003005 [] synonym: "cecum carcinoid tumor" EXACT [NCIT:C5501] +synonym: "cecum carcinoid tumour" EXACT OMO:0003005 [] synonym: "cecum NET G1" EXACT [NCIT:C5501] synonym: "cecum neuroendocrine tumor G1" EXACT [NCIT:C5501] synonym: "grade 1 neuroendocrine neoplasm of caecum" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] @@ -106225,11 +109005,14 @@ id: MONDO:0006130 name: central nervous system neoplasm def: "A benign or malignant, primary or metastatic neoplasm that affects the brain, meninges, or spinal cord. Representative examples of primary neoplasms include astrocytoma, oligodendroglioma, ependymoma, and meningioma. Representative examples of metastatic neoplasms include carcinoma and leukemia." [NCIT:C9293] synonym: "brain/spinal cord tumor" EXACT [NCIT:C9293] +synonym: "brain/spinal cord tumour" EXACT OMO:0003005 [] synonym: "central nervous system neoplasm" EXACT [NCIT:C9293] synonym: "central nervous system neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "central nervous system tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C9293] +synonym: "central nervous system tumour" EXACT OMO:0003005 [] synonym: "CNS neoplasm" EXACT [NCIT:C9293] synonym: "CNS tumor" EXACT [NCIT:C9293] +synonym: "CNS tumour" EXACT OMO:0003005 [] synonym: "neoplasm of central nervous system" EXACT [MONDO:patterns/neoplasm, NCIT:C9293] synonym: "neoplasm of CNS" EXACT [NCIT:C9293] synonym: "neoplasm of the central nervous system" EXACT [NCIT:C9293] @@ -106237,6 +109020,10 @@ synonym: "tumor of central nervous system" EXACT [MONDO:patterns/neoplasm, NCIT: synonym: "tumor of CNS" EXACT [NCIT:C9293] synonym: "tumor of the central nervous system" EXACT [NCIT:C9293] synonym: "tumor of the CNS" EXACT [NCIT:C9293] +synonym: "tumour of central nervous system" EXACT OMO:0003005 [] +synonym: "tumour of CNS" EXACT OMO:0003005 [] +synonym: "tumour of the central nervous system" EXACT OMO:0003005 [] +synonym: "tumour of the CNS" EXACT OMO:0003005 [] xref: EFO:1000158 {source="MONDO:equivalentTo"} xref: NCIT:C9293 {source="MONDO:equivalentTo", source="EFO:1000158"} xref: UMLS:C0085136 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C9293"} @@ -106396,6 +109183,7 @@ name: cervical large cell neuroendocrine carcinoma def: "A rare, aggressive neuroendocrine carcinoma that arises from the cervix and is characterized by the presence of malignant cells with abundant cytoplasm, large nuclei, and prominent nucleoli." [NCIT:C40214] synonym: "cervical large cell neuroendocrine carcinoma" EXACT [MONDO:0003961, NCIT:C40214] synonym: "cervical neuroendocrine tumor" RELATED [ONCOTREE:CENE] +synonym: "cervical neuroendocrine tumour" RELATED OMO:0003005 [] xref: DOID:6659 {source="MONDO:equivalentTo"} xref: EFO:1000167 {source="MONDO:equivalentTo"} xref: NCIT:C40214 {source="DOID:6659", source="MONDO:equivalentTo", source="EFO:1000167"} @@ -106516,6 +109304,7 @@ name: cervical Wilms tumor def: "An embryonal neoplasm arising from the cervix with morphologic features resembling Wilms tumor of the kidney." [NCIT:C40236] synonym: "cervical Wilms tumor" EXACT [DOID:5190, NCIT:C40236] synonym: "cervical Wilms' tumor" EXACT [NCIT:C40236] +synonym: "cervical Wilms' tumour" EXACT OMO:0003005 [] xref: DOID:5190 {source="MONDO:equivalentTo"} xref: EFO:1000173 {source="MONDO:equivalentTo"} xref: NCIT:C40236 {source="EFO:1000173", source="MONDO:equivalentTo", source="DOID:5190"} @@ -106669,13 +109458,18 @@ name: colon neuroendocrine tumor G1 def: "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." [NCIT:C5497] synonym: "carcinoid tumor of colon" EXACT [NCIT:C5497] synonym: "carcinoid tumor of the colon" EXACT [NCIT:C5497] +synonym: "carcinoid tumour of colon" EXACT OMO:0003005 [] +synonym: "carcinoid tumour of the colon" EXACT OMO:0003005 [] synonym: "colon carcinoid tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1, NCIT:C5497] synonym: "colon carcinoid tumor (disease)" EXACT [MONDO:patterns/location] +synonym: "colon carcinoid tumour" EXACT OMO:0003005 [] +synonym: "colon carcinoid tumour (disease)" EXACT OMO:0003005 [] synonym: "colon NET G1" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1, NCIT:C5497] synonym: "colon neuroendocrine neoplasm G1" EXACT [] synonym: "colon neuroendocrine tumor G1" EXACT [NCIT:C5497] synonym: "colon neuroendocrine tumor, well differentiated, low grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] synonym: "colonic carcinoid tumor" EXACT [NCIT:C5497] +synonym: "colonic carcinoid tumour" EXACT OMO:0003005 [] synonym: "grade 1 neuroendocrine neoplasm of colon" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] xref: EFO:1000188 {source="MONDO:equivalentTo"} xref: NCIT:C5497 {source="EFO:1000188", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -106747,8 +109541,10 @@ id: MONDO:0006159 name: colorectal gastrointestinal stromal tumor def: "A gastrointestinal stromal tumor that arises from the colon or rectum. The majority of cases have spindle cell morphology. Gastrointestinal stromal tumors of the colon are usually advanced upon detection and tend to have a poor prognosis; gastrointestinal stromal tumors of the rectum usually have an aggressive clinical course." [NCIT:C27735] synonym: "colorectal (colon or rectal) gastrointestinal stromal tumor (gist)" EXACT [NCIT:C27735] +synonym: "colorectal (colon or rectal) gastrointestinal stromal tumour (gist)" EXACT OMO:0003005 [] synonym: "colorectal gastrointestinal stromal tumor" EXACT [NCIT:C27735] synonym: "colorectal gastrointestinal stromal tumor (gist)" EXACT [NCIT:C27735] +synonym: "colorectal gastrointestinal stromal tumour (gist)" EXACT OMO:0003005 [] synonym: "colorectal gist" EXACT [NCIT:C27735] xref: EFO:1000192 {source="MONDO:equivalentTo"} xref: NCIT:C27735 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000192"} @@ -106797,14 +109593,17 @@ id: MONDO:0006162 name: colorectal neuroendocrine tumor G1 def: "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon or rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." [NCIT:C96160] synonym: "colorectal carcinoid tumor" EXACT [NCIT:C96160] +synonym: "colorectal carcinoid tumour" EXACT OMO:0003005 [] synonym: "colorectal NET G1" EXACT [NCIT:C96160] synonym: "colorectal neuroendocrine tumor G1" EXACT [NCIT:C96160] synonym: "colorectum carcinoid tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] +synonym: "colorectum carcinoid tumour" EXACT OMO:0003005 [] synonym: "colorectum NET G1" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] synonym: "colorectum neuroendocrine neoplasm G1" EXACT [] synonym: "colorectum neuroendocrine tumor, well differentiated, low grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] synonym: "grade 1 neuroendocrine neoplasm of colorectum" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] synonym: "large intestinal neuroendocrine tumor G1" EXACT [NCIT:C96160] +synonym: "large intestinal neuroendocrine tumour G1" EXACT OMO:0003005 [] xref: EFO:1000195 {source="MONDO:equivalentTo"} xref: NCIT:C96160 {source="EFO:1000195", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C3272611 {source="NCIT:C96160", source="MONDO:equivalentTo"} @@ -107244,13 +110043,16 @@ id: MONDO:0006190 name: endolymphatic sac tumor def: "An aggressive epithelial neoplasm arising from the temporal bone. It is characterized by the presence of a papillary pattern, and has been described as an adenoma or carcinoma in the literature. There is disagreement regarding its relationship to endolymphatic sac tumor." [NCIT:P378] synonym: "aggressive papillary tumor of the temporal bone" EXACT [NCIT:C67560] +synonym: "aggressive papillary tumour of the temporal bone" EXACT OMO:0003005 [] synonym: "ELST" EXACT ABBREVIATION [NCIT:C67560] synonym: "endolymphatic sac neoplasm" EXACT [] synonym: "endolymphatic sac neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "endolymphatic sac tumor" EXACT [MONDO:ambiguous, MONDO:patterns/neoplasm, NCIT:C67560] synonym: "endolymphatic sac tumor (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] +synonym: "endolymphatic sac tumour (disease)" EXACT OMO:0003005 [] synonym: "neoplasm of endolymphatic sac" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of endolymphatic sac" EXACT [MONDO:patterns/neoplasm] +synonym: "tumour of endolymphatic sac" EXACT OMO:0003005 [] xref: EFO:1000230 {source="MONDO:equivalentTo"} xref: HP:0030393 {source="MONDO:otherHierarchy"} xref: ICD9:212.0 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -107518,8 +110320,11 @@ name: fallopian tube carcinosarcoma def: "A carcinosarcoma that arises from the fallopian tube. It usually affects postmenopausal women and presents with abdominal pain, abdominal distension or genital bleeding. The prognosis is usually poor." [NCIT:C40124] synonym: "fallopian tube carcinosarcoma" EXACT [MONDO:patterns/location] synonym: "fallopian tube malignant mixed mesodermal (mullerian) tumor" EXACT [DOID:1970] +synonym: "fallopian tube malignant mixed mesodermal (mullerian) tumour" EXACT OMO:0003005 [] synonym: "fallopian tube malignant mixed mesodermal (Müllerian) tumor" EXACT [NCIT:C40124] +synonym: "fallopian tube malignant mixed mesodermal (Müllerian) tumour" EXACT OMO:0003005 [] synonym: "fallopian tube malignant mixed Mullerian tumor" EXACT [DOID:1970] +synonym: "fallopian tube malignant mixed Mullerian tumour" EXACT OMO:0003005 [] xref: DOID:1970 {source="MONDO:equivalentTo"} xref: EFO:1000252 {source="MONDO:equivalentTo"} xref: NCIT:C40124 {source="EFO:1000252", source="DOID:1970", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -107549,12 +110354,15 @@ name: fibroblastic neoplasm def: "A benign, intermediate, or malignant mesenchymal neoplasm characterized by the presence of neoplastic fibroblasts." [NCIT:C7075] synonym: "fibroblastic neoplasm" EXACT [NCIT:C7075] synonym: "fibroblastic tumor" EXACT [NCIT:C7075] +synonym: "fibroblastic tumour" EXACT OMO:0003005 [] synonym: "fibrocytic neoplasm" EXACT [NCIT:C7075] synonym: "fibrocytic tumor" EXACT [NCIT:C7075] +synonym: "fibrocytic tumour" EXACT OMO:0003005 [] synonym: "fibrogenic neoplasm" EXACT [NCIT:C7075] synonym: "fibrogenicTumor" EXACT [NCIT:C7075] synonym: "fibrous neoplasm" EXACT [NCIT:C7075] synonym: "fibrous tumor" EXACT [NCIT:C7075] +synonym: "fibrous tumour" EXACT OMO:0003005 [] xref: EFO:1000255 {source="MONDO:equivalentTo"} xref: NCIT:C7075 {source="MONDO:equivalentTo", source="EFO:1000255"} xref: UMLS:C0206643 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C7075"} @@ -107587,6 +110395,7 @@ synonym: "hepatocellular carcinoma, fibrolamellar" EXACT [DOID:5015] synonym: "hepatocellular fibrolamellar carcinoma" EXACT [NCIT:C4131] synonym: "liver cell fibrolamellar carcinoma" EXACT [NCIT:C4131] synonym: "oncocytic hepatocellular tumor" EXACT [DOID:5015, NCIT:C4131] +synonym: "oncocytic hepatocellular tumour" EXACT OMO:0003005 [] synonym: "polygonal cell hepatocellular carcinoma with fibrous stroma" RELATED [GARD:0009396] synonym: "polygonal cell type hepatocellular carcinoma with fibrous Stroma" EXACT [NCIT:C4131] xref: DOID:5015 {source="MONDO:equivalentTo"} @@ -107892,15 +110701,20 @@ id: MONDO:0006227 name: gastric neuroendocrine tumor G1 def: "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the stomach. The vast majority of cases arise from the corpus-fundus region. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. It may be associated with autoimmune chronic atrophic gastritis, multiple endocrine neoplasia type 1, or it may be sporadic." [NCIT:P378] synonym: "gastric carcinoid tumor" EXACT [NCIT:C4635] +synonym: "gastric carcinoid tumour" EXACT OMO:0003005 [] synonym: "gastric ECL cell NET" EXACT [NCIT:C4635] synonym: "gastric ECL cell NET G1" EXACT [NCIT:C4635] synonym: "gastric ECL cell, histamine-producing NET" EXACT [NCIT:C4635] synonym: "gastric ECL-cell carcinoid tumor" EXACT [NCIT:C4635] +synonym: "gastric ECL-cell carcinoid tumour" EXACT OMO:0003005 [] synonym: "gastric enterochromaffin-like cell carcinoid tumor" EXACT [NCIT:C4635] +synonym: "gastric enterochromaffin-like cell carcinoid tumour" EXACT OMO:0003005 [] synonym: "gastric enterochromaffin-like cell neuroendocrine tumor" EXACT [NCIT:C4635] +synonym: "gastric enterochromaffin-like cell neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "gastric NET G1" EXACT [NCIT:C4635] synonym: "grade 1 neuroendocrine neoplasm of stomach" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] synonym: "stomach carcinoid tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] +synonym: "stomach carcinoid tumour" EXACT OMO:0003005 [] synonym: "stomach NET G1" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] synonym: "stomach neuroendocrine neoplasm G1" EXACT [] synonym: "stomach neuroendocrine tumor, well differentiated, low grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] @@ -108064,21 +110878,32 @@ def: "An unusual benign or malignant neoplasm characterized by the presence of n comment: Editor note: MESH considers this a myoblastoma but we go with NCIT which states nerve sheath origin, consistent with GARD definition; also check ONCOTREE placement subset: gard_rare {source="GARD:0009618"} synonym: "Abrikosoff's granulous cell tumor" RELATED [GARD:0009618] +synonym: "Abrikosoff's granulous cell tumour" RELATED OMO:0003005 [] synonym: "Abrikosoff's tumor" RELATED [GARD:0009618] +synonym: "Abrikosoff's tumour" RELATED OMO:0003005 [] synonym: "Abrikosov's tumor" RELATED [GARD:0009618] +synonym: "Abrikosov's tumour" RELATED OMO:0003005 [] synonym: "Abrikosov’s tumor" RELATED [GARD:0009618] +synonym: "Abrikosov’s tumour" RELATED OMO:0003005 [] synonym: "Abrikossoff tumor" EXACT [NCIT:C3474] +synonym: "Abrikossoff tumour" EXACT OMO:0003005 [] synonym: "Abrikossoff's tumor" EXACT [NCIT:C3474] +synonym: "Abrikossoff's tumour" EXACT OMO:0003005 [] synonym: "GCT" RELATED ABBREVIATION [ONCOTREE:GCT] synonym: "giant granulocellular Abrikosov's tumor" RELATED [GARD:0009618] +synonym: "giant granulocellular Abrikosov's tumour" RELATED OMO:0003005 [] synonym: "granular cell myoblastoma" EXACT [NCIT:C3474] synonym: "granular cell neoplasm" EXACT [NCIT:C3474] synonym: "granular cell nerve sheath tumor" EXACT [NCIT:C3474] +synonym: "granular cell nerve sheath tumour" EXACT OMO:0003005 [] synonym: "granular cell schwannoma" EXACT [NCIT:C3474] synonym: "granular cell tumor" EXACT [NCIT:C3474] synonym: "granular cell tumor (morphologic abnormality)" EXACT [DOID:2411] synonym: "granular cell tumor NOS (morphologic abnormality)" NARROW [DOID:2411] +synonym: "granular cell tumour (morphologic abnormality)" EXACT OMO:0003005 [] +synonym: "granular cell tumour NOS (morphologic abnormality)" NARROW OMO:0003005 [] synonym: "malignant variant of Abrikosov's tumor" RELATED [GARD:0009618] +synonym: "malignant variant of Abrikosov's tumour" RELATED OMO:0003005 [] synonym: "neoplasm of granular cell" NARROW [DOID:2411, NCIT:C3474] xref: DOID:2411 {source="MONDO:equivalentTo"} xref: EFO:1000284 {source="MONDO:equivalentTo"} @@ -108271,6 +111096,8 @@ synonym: "histiocytic and dendritic cell neoplasm" EXACT [NCIT:C9294] synonym: "histiocytic and Dendritic cell neoplasms" EXACT [NCIT:C9294] synonym: "histiocytic and dendritic cell tumor" RELATED [Orphanet:98287] synonym: "histiocytic and Dendritic cell tumors" EXACT [NCIT:C9294] +synonym: "histiocytic and dendritic cell tumour" RELATED OMO:0003005 [] +synonym: "histiocytic and Dendritic cell tumours" EXACT OMO:0003005 [] xref: DOID:5621 {source="MONDO:equivalentTo"} xref: EFO:1000297 {source="MONDO:equivalentTo"} xref: NCIT:C9294 {source="EFO:1000297", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -108332,12 +111159,17 @@ alt_id: MONDO:0021536 def: "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ileum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." [NCIT:C4935] synonym: "carcinoid tumor of ileum" EXACT [NCIT:C4935] synonym: "carcinoid tumor of the ileum" EXACT [NCIT:C4935] +synonym: "carcinoid tumour of ileum" EXACT OMO:0003005 [] +synonym: "carcinoid tumour of the ileum" EXACT OMO:0003005 [] synonym: "grade 1 neuroendocrine neoplasm of ileum" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] synonym: "ileal carcinoid tumor" EXACT [NCIT:C4935] +synonym: "ileal carcinoid tumour" EXACT OMO:0003005 [] synonym: "ileal NET G1" EXACT [NCIT:C4935] synonym: "ileal neuroendocrine tumor G1" EXACT [NCIT:C4935] synonym: "ileum carcinoid tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] synonym: "ileum carcinoid tumor (disease)" EXACT [MONDO:patterns/location] +synonym: "ileum carcinoid tumour" EXACT OMO:0003005 [] +synonym: "ileum carcinoid tumour (disease)" EXACT OMO:0003005 [] synonym: "ileum NET G1" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] synonym: "ileum neuroendocrine neoplasm G1" EXACT [] synonym: "ileum neuroendocrine tumor, well differentiated, low grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] @@ -108432,11 +111264,16 @@ name: jejunal neuroendocrine tumor G1 def: "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the jejunum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." [NCIT:C6429] synonym: "carcinoid tumor of jejunum" EXACT [NCIT:C6429] synonym: "carcinoid tumor of the jejunum" EXACT [NCIT:C6429] +synonym: "carcinoid tumour of jejunum" EXACT OMO:0003005 [] +synonym: "carcinoid tumour of the jejunum" EXACT OMO:0003005 [] synonym: "grade 1 neuroendocrine neoplasm of jejunum" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] synonym: "jejunal carcinoid tumor" EXACT [NCIT:C6429] +synonym: "jejunal carcinoid tumour" EXACT OMO:0003005 [] synonym: "jejunal NET G1" EXACT [NCIT:C6429] synonym: "jejunum carcinoid tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] synonym: "jejunum carcinoid tumor (disease)" EXACT [MONDO:patterns/location] +synonym: "jejunum carcinoid tumour" EXACT OMO:0003005 [] +synonym: "jejunum carcinoid tumour (disease)" EXACT OMO:0003005 [] synonym: "jejunum NET G1" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] synonym: "jejunum neuroendocrine neoplasm G1" EXACT [] synonym: "jejunum neuroendocrine tumor, well differentiated, low grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] @@ -108563,6 +111400,7 @@ def: "A sex cord-stromal tumor occurring in the testis and rarely in the ovary. comment: Editor notes: Adding an axiom to this to localize to leydig cell entails equivalence with testicular leydig cell tumor synonym: "interstitial cell neoplasm" EXACT [NCIT:C3188] synonym: "interstitial cell tumor" EXACT [NCIT:C3188] +synonym: "interstitial cell tumour" EXACT OMO:0003005 [] synonym: "Leydig cell neoplasm" EXACT [DOID:2696, NCIT:C3188] synonym: "Leydig cell tumor" EXACT [NCIT:C3188] synonym: "Leydig cell tumor, undetermined" RELATED [NCIT:C3188] @@ -108689,6 +111527,7 @@ id: MONDO:0006273 name: low grade fibromyxoid sarcoma with giant collagen rosettes def: "A low grade fibromyxoid sarcoma characterized by the presence of prominent collagen rosettes." [NCIT:P378] synonym: "hyalinizing spindle cell tumor with giant Rosettes" EXACT [NCIT:C45203] +synonym: "hyalinizing spindle cell tumour with giant Rosettes" EXACT OMO:0003005 [] xref: EFO:1000329 {source="MONDO:equivalentTo"} xref: NCIT:C45203 {source="MONDO:equivalentTo", source="EFO:1000329"} xref: UMLS:C1708749 {source="MONDO:equivalentTo", source="NCIT:C45203"} @@ -108752,6 +111591,7 @@ id: MONDO:0006276 name: lung inflammatory myofibroblastic tumor def: "An intermediate fibroblastic neoplasm arising from the lung. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." [NCIT:C39740] synonym: "inflammatory myofibroblastic lung tumor" RELATED [ONCOTREE:IMTL] +synonym: "inflammatory myofibroblastic lung tumour" RELATED OMO:0003005 [] synonym: "lung inflammatory myofibroblastic tumor" EXACT [MONDO:patterns/location, NCIT:C39740] xref: EFO:1000333 {source="MONDO:equivalentTo"} xref: ICDO:8827/1 {source="NCIT:C39740"} @@ -108978,14 +111818,19 @@ name: malignancy in giant cell tumor of bone def: "A malignant tumor that arises from the bone. It is characterized by the presence of an area of high grade sarcoma in an otherwise typical giant cell tumor (primary malignancy in giant cell tumor), or the presence of sarcoma in which the pre-existing giant cell tumor may or may not be apparent (secondary malignancy in giant cell tumor)." [NCIT:C4304] synonym: "bone giant cell sarcoma" EXACT [MONDO:0003114] synonym: "Dedifferentiated giant cell tumor" EXACT [NCIT:C4304] +synonym: "Dedifferentiated giant cell tumour" EXACT OMO:0003005 [] synonym: "giant cell bone sarcoma" EXACT [NCIT:C4304] synonym: "giant cell sarcoma of bone" EXACT [NCIT:C4304] synonym: "giant cell sarcoma of the bone" EXACT [DOID:4719, NCIT:C4304] synonym: "giant cell tumor of bone, malignant" EXACT [DOID:4719] synonym: "giant cell tumor of bone, malignant (morphologic abnormality)" EXACT [DOID:4719] +synonym: "giant cell tumour of bone, malignant" EXACT OMO:0003005 [] +synonym: "giant cell tumour of bone, malignant (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "malignancy in giant cell tumor of bone" EXACT [NCIT:C4304] synonym: "malignancy in giant cell tumor of the bone" EXACT [NCIT:C4304] +synonym: "malignancy in giant cell tumour of the bone" EXACT OMO:0003005 [] synonym: "malignant giant cell tumor of bone" EXACT [NCIT:C4304] +synonym: "malignant giant cell tumour of bone" EXACT OMO:0003005 [] synonym: "OSTEOCLASTOMA, malignant" EXACT [NCIT:C4304] xref: DOID:4719 {source="MONDO:equivalentTo"} xref: EFO:1000347 {source="MONDO:equivalentTo"} @@ -109004,6 +111849,7 @@ synonym: "adrenal gland pheochromocytoma, malignant" EXACT [MONDO:patterns/malig synonym: "malignant adrenal gland chromaffin neoplasm" EXACT [NCIT:C4220] synonym: "malignant adrenal gland chromaffin paraganglioma" EXACT [NCIT:C4220] synonym: "malignant adrenal gland chromaffin tumor" EXACT [NCIT:C4220] +synonym: "malignant adrenal gland chromaffin tumour" EXACT OMO:0003005 [] synonym: "malignant adrenal gland Chromaffinoma" EXACT [NCIT:C4220] synonym: "malignant adrenal gland paraganglioma" EXACT [NCIT:C4220] synonym: "malignant adrenal gland pheochromocytoma" EXACT [NCIT:C4220] @@ -109045,6 +111891,8 @@ synonym: "malignant neoplasm of germ cell" EXACT [MONDO:patterns/cancer, NCIT:C4 synonym: "malignant neoplasm of the germ cell" EXACT [NCIT:C4925] synonym: "malignant tumor of germ cell" EXACT [NCIT:C4925] synonym: "malignant tumor of the germ cell" EXACT [NCIT:C4925] +synonym: "malignant tumour of germ cell" EXACT OMO:0003005 [] +synonym: "malignant tumour of the germ cell" EXACT OMO:0003005 [] xref: EFO:1000352 {source="MONDO:equivalentTo"} xref: NCIT:C4925 {source="EFO:1000352", source="MONDO:equivalentTo"} xref: SCTID:145831000119103 {source="MONDO:equivalentTo"} @@ -109062,6 +111910,7 @@ synonym: "cancer of jugular body" EXACT [MONDO:patterns/cancer] synonym: "jugular body cancer" EXACT [MONDO:patterns/location] synonym: "malignant glomus jugulare neoplasm" EXACT [NCIT:C4623] synonym: "malignant glomus jugulare tumor" EXACT [NCIT:C4623] +synonym: "malignant glomus jugulare tumour" EXACT OMO:0003005 [] synonym: "malignant jugular body neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant jugulotympanic paraganglioma" EXACT [NCIT:C4623] synonym: "malignant neoplasm of glomus jugulare" EXACT [NCIT:C4623] @@ -109069,6 +111918,8 @@ synonym: "malignant neoplasm of jugular body" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of the glomus jugulare" EXACT [NCIT:C4623] synonym: "malignant tumor of glomus jugulare" EXACT [NCIT:C4623] synonym: "malignant tumor of the glomus jugulare" EXACT [NCIT:C4623] +synonym: "malignant tumour of glomus jugulare" EXACT OMO:0003005 [] +synonym: "malignant tumour of the glomus jugulare" EXACT OMO:0003005 [] xref: EFO:1000353 {source="MONDO:equivalentTo"} xref: NCIT:C4623 {source="EFO:1000353", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C0347856 {source="MONDO:equivalentTo", source="NCIT:C4623"} @@ -109087,12 +111938,15 @@ synonym: "asbestos-related malignant mesothelioma" NARROW [DOID:1790] synonym: "diffuse malignant mesothelioma" NARROW [DOID:1790, NCIT:C8420] synonym: "malignant mesothelial neoplasm" NARROW [NCIT:C4456] synonym: "malignant mesothelial tumor" EXACT [NCIT:C4456] +synonym: "malignant mesothelial tumour" EXACT OMO:0003005 [] synonym: "malignant mesothelioma" EXACT [MONDO:ambiguous, NCIT:C4456] synonym: "malignant mesothelioma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "malignant neoplasm of mesothelium" EXACT [NCIT:C4456] synonym: "malignant neoplasm of the mesothelium" EXACT [NCIT:C4456] synonym: "malignant tumor of mesothelium" EXACT [DOID:1790, NCIT:C4456] synonym: "malignant tumor of the mesothelium" EXACT [NCIT:C4456] +synonym: "malignant tumour of mesothelium" EXACT OMO:0003005 [] +synonym: "malignant tumour of the mesothelium" EXACT OMO:0003005 [] synonym: "MESOM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:156240] synonym: "mesothelioma, malignant" EXACT [MONDO:Lexical, MONDO:patterns/malignant, NCIT:C4456, OMIM:156240] synonym: "mesothelioma, somatic" EXACT [OMIM:156240, OMIM:genemap2] @@ -109141,12 +111995,16 @@ synonym: "malignant neoplasm of the pleura" EXACT [NCIT:C3547] synonym: "malignant pleura neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant pleural neoplasm" EXACT [NCIT:C3547] synonym: "malignant pleural tumor" EXACT [NCIT:C3547] +synonym: "malignant pleural tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of pleura" EXACT [NCIT:C3547] synonym: "malignant tumor of the pleura" EXACT [NCIT:C3547] +synonym: "malignant tumour of pleura" EXACT OMO:0003005 [] +synonym: "malignant tumour of the pleura" EXACT OMO:0003005 [] synonym: "neoplasm of pleura" BROAD [DOID:5158] synonym: "pleura cancer" EXACT [MONDO:patterns/location] synonym: "pleural cancer" EXACT [MONDO:0003309, NCIT:C3547] synonym: "pleural tumor" BROAD [DOID:5158, NCIT:C3332] +synonym: "pleural tumour" BROAD OMO:0003005 [] xref: DOID:5158 {source="MONDO:equivalentTo"} xref: EFO:1000362 {source="MONDO:equivalentTo"} xref: ICD10CM:C38.4 {source="DOID:5158", source="MONDO:equivalentTo"} @@ -109228,11 +112086,15 @@ synonym: "malignant germ cell neoplasm of mediastinum" RELATED [NCIT:C6446] synonym: "malignant germ cell neoplasm of the mediastinum" RELATED [NCIT:C6446] synonym: "malignant germ cell tumor of mediastinum" RELATED [NCIT:C6446] synonym: "malignant germ cell tumor of the mediastinum" RELATED [NCIT:C6446] +synonym: "malignant germ cell tumour of mediastinum" RELATED OMO:0003005 [] +synonym: "malignant germ cell tumour of the mediastinum" RELATED OMO:0003005 [] synonym: "malignant mediastinal germ cell neoplasm" RELATED [NCIT:C6446] synonym: "malignant mediastinal germ cell tumor" EXACT [] +synonym: "malignant mediastinal germ cell tumour" EXACT OMO:0003005 [] synonym: "mediastinal germ cell tumor, malignant" EXACT [MONDO:patterns/malignant] synonym: "mediastinal malignant germ cell tumor" EXACT [NCIT:C6446] synonym: "thymic malignant germ cell tumor" EXACT [NCIT:C6446] +synonym: "thymic malignant germ cell tumour" EXACT OMO:0003005 [] xref: EFO:1000366 {source="MONDO:equivalentTo"} xref: NCIT:C6446 {source="EFO:1000366", source="MONDO:equivalentTo", source="NCIT:C6446"} xref: SCTID:713293002 {source="MONDO:equivalentTo"} @@ -109693,6 +112555,7 @@ def: "A rare soft tissue tumor of uncertain lineage characterized by the presenc synonym: "OFMT" EXACT ABBREVIATION [NCIT:C6582, ONCOTREE:OFMT] synonym: "ossifying fibromyxoid neoplasm" EXACT [NCIT:C6582] synonym: "ossifying fibromyxoid tumor (morphologic abnormality)" EXACT [DOID:2685] +synonym: "ossifying fibromyxoid tumour (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "ossifying fibromyxoma" EXACT [DOID:2685, NCIT:C6582] xref: DOID:2685 {source="MONDO:equivalentTo"} xref: EFO:1000408 {source="MONDO:equivalentTo"} @@ -109811,6 +112674,7 @@ name: ovarian microcystic stromal tumor def: "A benign, unilateral tumor that arises from the ovary and is characterized by the presence of conspicuous microcystic changes, cellular areas, and a fibrous stroma." [NCIT:C121953] synonym: "MCST" EXACT ABBREVIATION [Orphanet:569248] synonym: "microcystic stromal tumor" EXACT [Orphanet:569248] +synonym: "microcystic stromal tumour" EXACT OMO:0003005 [] xref: EFO:1000424 {source="MONDO:equivalentTo"} xref: NCIT:C121953 {source="MONDO:equivalentTo", source="EFO:1000424", source="MONDO:exact-label-match"} xref: Orphanet:569248 {source="MONDO:equivalentTo"} @@ -109879,22 +112743,32 @@ synonym: "endodermal sinus neoplasm of ovary" EXACT [NCIT:C8107] synonym: "endodermal sinus neoplasm of the ovary" EXACT [NCIT:C8107] synonym: "endodermal sinus tumor of ovary" EXACT [NCIT:C8107] synonym: "endodermal sinus tumor of the ovary" EXACT [NCIT:C8107] +synonym: "endodermal sinus tumour of ovary" EXACT OMO:0003005 [] +synonym: "endodermal sinus tumour of the ovary" EXACT OMO:0003005 [] synonym: "germ cell endodermal sinus neoplasm of ovary" EXACT [NCIT:C8107] synonym: "germ cell endodermal sinus neoplasm of the ovary" EXACT [NCIT:C8107] synonym: "germ cell endodermal sinus tumor of ovary" EXACT [NCIT:C8107] synonym: "germ cell endodermal sinus tumor of the ovary" EXACT [NCIT:C8107] +synonym: "germ cell endodermal sinus tumour of ovary" EXACT OMO:0003005 [] +synonym: "germ cell endodermal sinus tumour of the ovary" EXACT OMO:0003005 [] synonym: "ovarian endodermal sinus neoplasm" EXACT [NCIT:C8107] synonym: "ovarian endodermal sinus tumor" EXACT [NCIT:C8107] +synonym: "ovarian endodermal sinus tumour" EXACT OMO:0003005 [] synonym: "ovarian germ cell endodermal sinus neoplasm" EXACT [NCIT:C8107] synonym: "ovarian germ cell endodermal sinus tumor" EXACT [NCIT:C8107] +synonym: "ovarian germ cell endodermal sinus tumour" EXACT OMO:0003005 [] synonym: "ovarian yolk Sac neoplasm" EXACT [NCIT:C8107] synonym: "ovarian yolk sac tumor" EXACT [DOID:5350, MONDO:0003407, NCIT:C8107] synonym: "ovary yolk sac tumor" EXACT [MONDO:patterns/location] +synonym: "ovary yolk sac tumour" EXACT OMO:0003005 [] synonym: "yolk Sac neoplasm of ovary" EXACT [NCIT:C8107] synonym: "yolk Sac neoplasm of the ovary" EXACT [NCIT:C8107] synonym: "yolk sac tumor" RELATED [ONCOTREE:OYST] synonym: "yolk Sac tumor of ovary" EXACT [NCIT:C8107] synonym: "yolk Sac tumor of the ovary" EXACT [NCIT:C8107] +synonym: "yolk sac tumour" RELATED OMO:0003005 [] +synonym: "yolk Sac tumour of ovary" EXACT OMO:0003005 [] +synonym: "yolk Sac tumour of the ovary" EXACT OMO:0003005 [] xref: DOID:5350 {source="MONDO:equivalentTo"} xref: EFO:1000437 {source="MONDO:equivalentTo"} xref: NCIT:C8107 {source="MONDO:equivalentTo", source="DOID:5350", source="EFO:1000437"} @@ -110007,6 +112881,7 @@ name: papillary cystic neoplasm def: "A benign, malignant, or borderline neoplasm characterized by the presence of papillary mucinous, serous, or clear cell structures and cystic structures." [NCIT:C4179] synonym: "papillary cystic neoplasm" EXACT [NCIT:C4179] synonym: "papillary cystic tumor" EXACT [NCIT:C4179] +synonym: "papillary cystic tumour" EXACT OMO:0003005 [] xref: EFO:1000448 {source="MONDO:equivalentTo"} xref: NCIT:C4179 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000448"} xref: UMLS:C0334357 {source="MONDO:equivalentTo", source="NCIT:C4179"} @@ -110193,7 +113068,9 @@ subset: ordo_disease synonym: "neoplasm with perivascular epithelioid cell differentiation" EXACT [DOID:2643, NCIT:C38150] synonym: "PEComa" EXACT [DOID:2643, Orphanet:595133] synonym: "perivascular epithelioid cell tumor" EXACT [DOID:2643, Orphanet:595133] +synonym: "perivascular epithelioid cell tumour" EXACT OMO:0003005 [] synonym: "tumor with perivascular epithelioid cell differentiation" EXACT [NCIT:C38150] +synonym: "tumour with perivascular epithelioid cell differentiation" EXACT OMO:0003005 [] xref: DOID:2643 {source="MONDO:equivalentTo", source="EFO:1000464"} xref: EFO:1000464 {source="MONDO:equivalentTo"} xref: ICD10CM:D21.9 {source="Orphanet:595133/ntbt", source="Orphanet:595133"} @@ -110369,9 +113246,10 @@ id: MONDO:0006369 name: pineal parenchymal tumor of intermediate differentiation def: "A WHO grade II or III pineal parenchymal neoplasm of intermediate-grade malignancy, affecting all ages. It is composed of diffuse sheets or large lobules of uniform cells with mild to moderate nuclear atypia and low to moderate level mitotic activity. (Adapted from WHO)" [NCIT:C6967] synonym: "pineal parenchymal tumor of intermediate differentiation" EXACT [DOID:5030, NCIT:C6967] -synonym: "pineal parenchymal tumor of intermediate differentiation" EXACT [DOID:5030] synonym: "pineal parenchymal tumor of intermediate differentiation (morphologic abnormality)" EXACT [DOID:5030] synonym: "pineal parenchymal tumors of intermediate differentiation" RELATED [GARD:0010644] +synonym: "pineal parenchymal tumour of intermediate differentiation (morphologic abnormality)" EXACT OMO:0003005 [] +synonym: "pineal parenchymal tumours of intermediate differentiation" RELATED OMO:0003005 [] synonym: "PPTID" RELATED ABBREVIATION [GARD:0010644, ONCOTREE:PPTID] xref: DOID:5030 {source="MONDO:equivalentTo"} xref: EFO:1000474 {source="MONDO:equivalentTo"} @@ -110666,25 +113544,38 @@ synonym: "malignant prolactin producing neoplasm of the pituitary" EXACT [NCIT:C synonym: "malignant prolactin producing neoplasm of the pituitary gland" EXACT [NCIT:C5962] synonym: "malignant prolactin producing pituitary gland neoplasm" EXACT [NCIT:C5962] synonym: "malignant prolactin producing pituitary gland tumor" EXACT [NCIT:C5962] +synonym: "malignant prolactin producing pituitary gland tumour" EXACT OMO:0003005 [] synonym: "malignant prolactin producing pituitary neoplasm" EXACT [NCIT:C5962] synonym: "malignant prolactin producing pituitary tumor" EXACT [NCIT:C5962] +synonym: "malignant prolactin producing pituitary tumour" EXACT OMO:0003005 [] synonym: "malignant prolactin producing tumor" EXACT [NCIT:C5962] synonym: "malignant prolactin producing tumor of pituitary" EXACT [NCIT:C5962] synonym: "malignant prolactin producing tumor of pituitary gland" EXACT [NCIT:C5962] synonym: "malignant prolactin producing tumor of the pituitary" EXACT [NCIT:C5962] synonym: "malignant prolactin producing tumor of the pituitary gland" EXACT [NCIT:C5962] +synonym: "malignant prolactin producing tumour" EXACT OMO:0003005 [] +synonym: "malignant prolactin producing tumour of pituitary" EXACT OMO:0003005 [] +synonym: "malignant prolactin producing tumour of pituitary gland" EXACT OMO:0003005 [] +synonym: "malignant prolactin producing tumour of the pituitary" EXACT OMO:0003005 [] +synonym: "malignant prolactin producing tumour of the pituitary gland" EXACT OMO:0003005 [] synonym: "malignant prolactin secreting neoplasm of pituitary" EXACT [NCIT:C5962] synonym: "malignant prolactin secreting neoplasm of pituitary gland" EXACT [NCIT:C5962] synonym: "malignant prolactin secreting neoplasm of the pituitary" EXACT [NCIT:C5962] synonym: "malignant prolactin secreting neoplasm of the pituitary gland" EXACT [NCIT:C5962] synonym: "malignant prolactin secreting pituitary gland neoplasm" EXACT [NCIT:C5962] synonym: "malignant prolactin secreting pituitary gland tumor" EXACT [NCIT:C5962] +synonym: "malignant prolactin secreting pituitary gland tumour" EXACT OMO:0003005 [] synonym: "malignant prolactin secreting pituitary neoplasm" EXACT [NCIT:C5962] synonym: "malignant prolactin secreting pituitary tumor" EXACT [NCIT:C5962] +synonym: "malignant prolactin secreting pituitary tumour" EXACT OMO:0003005 [] synonym: "malignant prolactin secreting tumor of pituitary" EXACT [NCIT:C5962] synonym: "malignant prolactin secreting tumor of pituitary gland" EXACT [NCIT:C5962] synonym: "malignant prolactin secreting tumor of the pituitary" EXACT [NCIT:C5962] synonym: "malignant prolactin secreting tumor of the pituitary gland" EXACT [NCIT:C5962] +synonym: "malignant prolactin secreting tumour of pituitary" EXACT OMO:0003005 [] +synonym: "malignant prolactin secreting tumour of pituitary gland" EXACT OMO:0003005 [] +synonym: "malignant prolactin secreting tumour of the pituitary" EXACT OMO:0003005 [] +synonym: "malignant prolactin secreting tumour of the pituitary gland" EXACT OMO:0003005 [] synonym: "malignant prolactinoma" EXACT [NCIT:C5962] synonym: "malignant prolactinoma of pituitary" EXACT [NCIT:C5962] synonym: "malignant prolactinoma of pituitary gland" EXACT [NCIT:C5962] @@ -110865,6 +113756,7 @@ name: retroperitoneal inflammatory myofibroblastic tumor def: "A multinodular intermediate fibroblastic neoplasm arising from the retroperitoneum. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells." [NCIT:C39741] synonym: "retroperitoneal inflammatory myofibroblastic tumor" EXACT [NCIT:C39741] synonym: "retroperitoneal space inflammatory myofibroblastic tumor" EXACT [MONDO:patterns/location] +synonym: "retroperitoneal space inflammatory myofibroblastic tumour" EXACT OMO:0003005 [] xref: EFO:1000510 {source="MONDO:equivalentTo"} xref: NCIT:C39741 {source="MONDO:equivalentTo", source="EFO:1000510", source="MONDO:exact-label-match"} xref: UMLS:C1514921 {source="NCIT:C39741", source="MONDO:equivalentTo"} @@ -110889,9 +113781,12 @@ synonym: "acinic cell neoplasm of salivary gland" EXACT [NCIT:C8013] synonym: "acinic cell neoplasm of the salivary gland" EXACT [NCIT:C8013] synonym: "acinic cell tumor of salivary gland" EXACT [NCIT:C8013] synonym: "acinic cell tumor of the salivary gland" EXACT [NCIT:C8013] +synonym: "acinic cell tumour of salivary gland" EXACT OMO:0003005 [] +synonym: "acinic cell tumour of the salivary gland" EXACT OMO:0003005 [] synonym: "salivary gland acinic cell cancer" EXACT [NCIT:C8013] synonym: "salivary gland acinic cell neoplasm" EXACT [NCIT:C8013] synonym: "salivary gland acinic cell tumor" EXACT [NCIT:C8013] +synonym: "salivary gland acinic cell tumour" EXACT OMO:0003005 [] xref: EFO:1000513 {source="MONDO:equivalentTo"} xref: NCIT:C8013 {source="MONDO:equivalentTo", source="EFO:1000513"} xref: UMLS:C0279738 {source="NCIT:C8013", source="MONDO:equivalentTo"} @@ -111302,9 +114197,13 @@ synonym: "soft tissue neoplasm" EXACT [NCIT:C3377] synonym: "soft tissue neoplasm, NOS" RELATED EXCLUDE [NCIT:C3377] synonym: "soft tissue tumor" EXACT [NCIT:C3377] synonym: "soft tissue tumors" EXACT [NCIT:C3377] +synonym: "soft tissue tumour" EXACT OMO:0003005 [] +synonym: "soft tissue tumours" EXACT OMO:0003005 [] synonym: "SOFTTISSUE" RELATED ABBREVIATION [ONCOTREE:SOFTTISSUE] synonym: "tumor of soft tissue" EXACT [NCIT:C3377] synonym: "tumor of the soft tissue" EXACT [NCIT:C3377] +synonym: "tumour of soft tissue" EXACT OMO:0003005 [] +synonym: "tumour of the soft tissue" EXACT OMO:0003005 [] xref: EFO:1000541 {source="MONDO:equivalentTo"} xref: NCIT:C12471 {source="ONCOTREE:SOFTTISSUE"} xref: NCIT:C3377 {source="MONDO:equivalentTo", source="EFO:1000541"} @@ -111329,6 +114228,8 @@ synonym: "primitive neuroectodermal neoplasm of spinal cord" EXACT [NCIT:C5406] synonym: "primitive neuroectodermal neoplasm of the spinal cord" EXACT [NCIT:C5406] synonym: "primitive neuroectodermal tumor of spinal cord" EXACT [NCIT:C5406] synonym: "primitive neuroectodermal tumor of the spinal cord" EXACT [NCIT:C5406] +synonym: "primitive neuroectodermal tumour of spinal cord" EXACT OMO:0003005 [] +synonym: "primitive neuroectodermal tumour of the spinal cord" EXACT OMO:0003005 [] synonym: "spinal cord embryonal tumor, NOS" RELATED EXCLUDE [NCIT:C5406] synonym: "spinal cord embryonal tumor, not otherwise specified" RELATED EXCLUDE [MONDO:0004025, NCIT:C5406] synonym: "spinal cord PNET" EXACT [DOID:6872, NCIT:C5406] @@ -111421,12 +114322,17 @@ def: "Wilms tumor of the kidney characterized by the predominance of the mesench synonym: "stromal predominant kidney adenosarcoma" EXACT [NCIT:C9148] synonym: "stromal predominant kidney Wilms tumor" EXACT [NCIT:C9148] synonym: "stromal predominant kidney Wilms' tumor" EXACT [MONDO:0003324] +synonym: "stromal predominant kidney Wilms' tumour" EXACT OMO:0003005 [] synonym: "stromal predominant nephroblastoma" EXACT [NCIT:C9148] synonym: "stromal predominant renal adenosarcoma" EXACT [NCIT:C9148] synonym: "stromal predominant renal Wilm's tumor" EXACT [NCIT:C9148] +synonym: "stromal predominant renal Wilm's tumour" EXACT OMO:0003005 [] synonym: "stromal predominant renal Wilms tumor" EXACT [DOID:5191, NCIT:C9148] +synonym: "stromal predominant renal Wilms tumour" EXACT OMO:0003005 [] synonym: "stromal predominant renal Wilms' tumor" EXACT [NCIT:C9148] +synonym: "stromal predominant renal Wilms' tumour" EXACT OMO:0003005 [] synonym: "stromal predominant Wilms tumor" EXACT [NCIT:C9148] +synonym: "stromal predominant Wilms tumour" EXACT OMO:0003005 [] xref: DOID:5191 {source="MONDO:equivalentTo"} xref: EFO:1000551 {source="MONDO:equivalentTo"} xref: NCIT:C9148 {source="EFO:1000551", source="DOID:5191", source="MONDO:equivalentTo"} @@ -111592,10 +114498,15 @@ name: testicular non-seminomatous germ cell tumor def: "A testicular germ cell tumor characterized by the absence of a seminomatous component. It includes embryonal carcinoma, yolk sac tumor, choriocarcinoma, teratoma, and mixed forms." [NCIT:C9313] subset: ordo_disease {source="Orphanet:363494"} synonym: "non-dysgerminomatous germ cell tumor of testis" EXACT [Orphanet:363494] +synonym: "non-dysgerminomatous germ cell tumour of testis" EXACT OMO:0003005 [] synonym: "non-seminomatous germ cell tumor of testis" EXACT [MONDO:0018195] +synonym: "non-seminomatous germ cell tumour of testis" EXACT OMO:0003005 [] synonym: "testicular germ cell tumor non-seminomatous" EXACT [MONDO:0002873, NCIT:C9313] +synonym: "testicular germ cell tumour non-seminomatous" EXACT OMO:0003005 [] synonym: "testicular non seminomatous germ cell tumor" EXACT [Orphanet:363494] +synonym: "testicular non seminomatous germ cell tumour" EXACT OMO:0003005 [] synonym: "testicular non-dysgerminomatous germ cell tumor" EXACT [Orphanet:363494] +synonym: "testicular non-dysgerminomatous germ cell tumour" EXACT OMO:0003005 [] synonym: "testicular non-seminomatous germ cell tumor" EXACT [NCIT:C9313] xref: DOID:4086 {source="MONDO:equivalentTo"} xref: EFO:1000570 {source="MONDO:equivalentTo"} @@ -111628,6 +114539,7 @@ id: MONDO:0006450 name: therapy-related myeloid neoplasm def: "Acute myeloid leukemias, myelodysplastic syndromes, and myelodysplastic/myeloproliferative neoplasms arising as a result of the mutagenic effect of chemotherapy agents and/or radiation that are used for the treatment of neoplastic or non-neoplastic disorders." [NCIT:C27912] synonym: "acute myeloid Leukaemias and myelodysplastic syndromes, therapy-related" EXACT [NCIT:C27912] +synonym: "therapy-related acute myeloid leukaemia and myelodysplastic syndrome" EXACT OMO:0003005 [] synonym: "therapy-related acute myeloid leukemia and myelodysplastic syndrome" EXACT [NCIT:C27912] synonym: "therapy-related AML and MDS" EXACT [NCIT:C27912] synonym: "therapy-related myeloid neoplasm" EXACT [NCIT:C27912] @@ -111742,6 +114654,7 @@ def: "A neoplasm arising from the epithelial cells of the thymus. Although thymo subset: ordo_disease {source="Orphanet:99867"} synonym: "primary thymic epithelial neoplasm" EXACT [Orphanet:99867] synonym: "primary thymic epithelial tumor" EXACT [Orphanet:99867] +synonym: "primary thymic epithelial tumour" EXACT OMO:0003005 [] synonym: "THYM" RELATED ABBREVIATION [ONCOTREE:THYM] synonym: "thymoma" EXACT [MONDO:ambiguous, NCIT:C3411] synonym: "thymoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] @@ -111903,7 +114816,9 @@ name: thyroid gland spindle cell tumor with thymus-like differentiation def: "A rare, slow growing, primary carcinoma of the thyroid gland characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells. A small number of cases are composed exclusively of spindle epithelial cells or glandular cells." [NCIT:C46105] synonym: "settle" EXACT [NCIT:C46105] synonym: "settle tumor" EXACT [DOID:0050923] +synonym: "settle tumour" EXACT OMO:0003005 [] synonym: "spindle epithelial tumor with thymus-like differentiation tumor" EXACT [MONDO:0000538] +synonym: "spindle epithelial tumour with thymus-like differentiation tumour" EXACT OMO:0003005 [] xref: DOID:0050923 {source="MONDO:equivalentTo"} xref: EFO:1000593 {source="MONDO:equivalentTo"} xref: ICDO:8588/3 {source="NCIT:C46105"} @@ -111958,6 +114873,7 @@ synonym: "undifferentiated carcinoma of thyroid gland" EXACT [NCIT:C3878] synonym: "undifferentiated thyroid carcinoma" EXACT [NCIT:C3878] synonym: "undifferentiated thyroid gland carcinoma" EXACT [NCIT:C3878] synonym: "undifferentiated thyroid tumor" EXACT [NCIT:C3878] +synonym: "undifferentiated thyroid tumour" EXACT OMO:0003005 [] xref: DOID:0080522 {source="MONDO:equivalentTo"} xref: EFO:1000595 {source="MONDO:equivalentTo"} xref: HP:0011779 {source="MONDO:otherHierarchy"} @@ -112057,6 +114973,7 @@ synonym: "transitional carcinoma" EXACT [DOID:2671, NCIT:C2930] synonym: "transitional cell carcinoma" EXACT [NCIT:C2930] synonym: "transitional cell neoplasm" BROAD [DOID:2671] synonym: "transitional cell tumor" BROAD [DOID:2671, NCIT:C6783] +synonym: "transitional cell tumour" BROAD OMO:0003005 [] synonym: "transitional epithelial cell carcinoma" EXACT [] synonym: "urothelial cell carcinoma" EXACT [DOID:2671, MONDO:patterns/location] xref: DOID:2671 {source="MONDO:equivalentTo"} @@ -112165,8 +115082,10 @@ synonym: "OGCT of pancreas" EXACT [Orphanet:424080] synonym: "osteoclast-like giant cell neoplasm of pancreas" EXACT [DOID:7718, NCIT:C5723] synonym: "osteoclast-like giant cell neoplasm of the pancreas" EXACT [MONDO:0004342, NCIT:C5723] synonym: "osteoclastic giant cell tumor of pancreas" EXACT [MONDO:0018527] +synonym: "osteoclastic giant cell tumour of pancreas" EXACT OMO:0003005 [] synonym: "pancreatic osteoclast-like giant cell carcinoma" EXACT [NCIT:C5723] synonym: "pancreatic osteoclastic giant cell tumor" EXACT [Orphanet:424080] +synonym: "pancreatic osteoclastic giant cell tumour" EXACT OMO:0003005 [] synonym: "pancreatic undifferentiated carcinoma with osteoclast-like giant cells" EXACT [Orphanet:424080] synonym: "undifferentiated carcinoma of pancreas with osteoclast-like giant cells" EXACT [Orphanet:424080] synonym: "undifferentiated pancreatic carcinoma with osteoclast-like giant cells" EXACT [NCIT:C5723] @@ -112273,12 +115192,17 @@ name: uterine carcinosarcoma def: "A usually aggressive malignant neoplasm arising from the uterine corpus and less often the cervix. It is characterized by the presence of two components: a malignant epithelial component and a sarcomatous component. In the uterine corpus the epithelial component is usually glandular whereas in the cervix is usually non-glandular. Carcinosarcoma of the cervix, although it is aggressive, it may have a better prognosis compared to the uterine corpus carcinosarcoma." [NCIT:C42700] synonym: "carcinosarcoma of the uterus" EXACT [NCIT:C42700] synonym: "malignant mixed mesodermal (Mullerian) tumor of the uterus" EXACT [NCIT:C42700] +synonym: "malignant mixed mesodermal (Mullerian) tumour of the uterus" EXACT OMO:0003005 [] synonym: "malignant mixed mesodermal (Müllerian) tumor of the uterus" EXACT [NCIT:C42700] +synonym: "malignant mixed mesodermal (Müllerian) tumour of the uterus" EXACT OMO:0003005 [] synonym: "mixed mullerian sarcoma of uterus" EXACT [DOID:6171, NCIT:C9180] synonym: "uterine carcinosarcoma" EXACT [NCIT:C42700] synonym: "uterine carcinosarcoma/uterine malignant mixed mullerian tumor" RELATED [ONCOTREE:UCS] +synonym: "uterine carcinosarcoma/uterine malignant mixed mullerian tumour" RELATED OMO:0003005 [] synonym: "uterine malignant mixed mesodermal (Mullerian) tumor" EXACT [NCIT:C42700] +synonym: "uterine malignant mixed mesodermal (Mullerian) tumour" EXACT OMO:0003005 [] synonym: "uterine malignant mixed mesodermal (Müllerian) tumor" EXACT [NCIT:C42700] +synonym: "uterine malignant mixed mesodermal (Müllerian) tumour" EXACT OMO:0003005 [] synonym: "uterus carcinosarcoma" EXACT [MONDO:patterns/location] xref: DOID:6171 {source="MONDO:equivalentTo"} xref: EFO:1000613 {source="MONDO:equivalentTo"} @@ -112343,11 +115267,16 @@ id: MONDO:0006488 name: vaginal carcinosarcoma def: "An aggressive mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant epithelial component and a malignant mesenchymal component." [NCIT:C40278] synonym: "malignant vaginal mixed epithelial and mesenchymal tumor" RELATED [DOID:136] +synonym: "malignant vaginal mixed epithelial and mesenchymal tumour" RELATED OMO:0003005 [] synonym: "vaginal carcinosarcoma" EXACT [NCIT:C40278] synonym: "vaginal malignant mixed mesodermal (Mullerian) tumor" RELATED [NCIT:C40278] +synonym: "vaginal malignant mixed mesodermal (Mullerian) tumour" RELATED OMO:0003005 [] synonym: "vaginal malignant mixed mesodermal (Müllerian) tumor" EXACT [NCIT:C40278] +synonym: "vaginal malignant mixed mesodermal (Müllerian) tumour" EXACT OMO:0003005 [] synonym: "vaginal malignant mixed Mullerian tumor" RELATED [DOID:136] +synonym: "vaginal malignant mixed Mullerian tumour" RELATED OMO:0003005 [] synonym: "vaginal mixed epithelial and mesenchymal tumor" RELATED [DOID:136] +synonym: "vaginal mixed epithelial and mesenchymal tumour" RELATED OMO:0003005 [] xref: DOID:136 {source="MONDO:equivalentTo"} xref: EFO:1000618 {source="MONDO:equivalentTo"} xref: NCIT:C40278 {source="EFO:1000618", source="MONDO:equivalentTo", source="DOID:136"} @@ -112445,6 +115374,7 @@ synonym: "papillary cystadenoma lymphomatosum" RELATED [NCIT:C2854] synonym: "papillary cystadenoma lymphomatosum (formerly)" RELATED DEPRECATED [GARD:0008569] synonym: "Warthin tumor" EXACT [NCIT:C2854] synonym: "Warthin's tumor" EXACT [NCIT:C2854] +synonym: "Warthin's tumour" EXACT OMO:0003005 [] xref: EFO:1000625 {source="MONDO:equivalentTo"} xref: ICDO:8561/0 {source="NCIT:C2854"} xref: MESH:D000235 {source="MONDO:equivalentTo"} @@ -112603,7 +115533,9 @@ synonym: "acute respiratory distress syndrome" EXACT [GARD:0005698] synonym: "ALI" RELATED ABBREVIATION [GARD:0005698] synonym: "ARDS" EXACT ABBREVIATION [DOID:11394] synonym: "increased-permeability pulmonary edema" RELATED [GARD:0005698] +synonym: "increased-permeability pulmonary oedema" RELATED OMO:0003005 [] synonym: "non-cardiogenic pulmonary edema" RELATED [DOID:11394, GARD:0005698] +synonym: "non-cardiogenic pulmonary oedema" RELATED OMO:0003005 [] synonym: "shock lung" EXACT [DOID:11394, GARD:0005698] synonym: "Stiff lung" RELATED [GARD:0005698] xref: EFO:1000637 {source="MONDO:equivalentTo"} @@ -112658,6 +115590,7 @@ intersection_of: disease_has_location UBERON:0010011 ! collection of basal gangl id: MONDO:0006506 name: congenital nonspherocytic hemolytic anemia def: "Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in glucose-6-phosphate isomerase; pyruvate kinase; and glucose-6-phosphate dehydrogenase." [MESH:D000746] +synonym: "hereditary nonspherocytic hemolytic anaemia" EXACT OMO:0003005 [] synonym: "hereditary nonspherocytic hemolytic anemia" EXACT [DOID:2861] synonym: "HNSHA" EXACT ABBREVIATION [DOID:2861] xref: DOID:2861 {source="EFO:1000641", source="MONDO:equivalentTo"} @@ -112764,6 +115697,7 @@ name: estrogen-receptor positive breast cancer def: "A subtype of breast cancer that is estrogen-receptor positive" [EFO:1000649] synonym: "ER+ breast cancer" EXACT [] synonym: "estrogen receptor positive breast cancer" EXACT [] +synonym: "oestrogen receptor positive breast cancer" EXACT OMO:0003005 [] xref: DOID:0060075 {source="MONDO:equivalentTo"} xref: EFO:1000649 {source="MONDO:equivalentTo"} is_a: MONDO:0004989 {source="EFO:1000649"} ! breast carcinoma @@ -112847,9 +115781,13 @@ synonym: "childhood malignant neoplasm" EXACT [NCIT:C4005] synonym: "childhood neoplasm, malignant" EXACT [MONDO:patterns/malignant] synonym: "malignant childhood neoplasm" EXACT [NCIT:C4005] synonym: "malignant childhood tumor" EXACT [NCIT:C4005] +synonym: "malignant childhood tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm" NARROW [NCIT:C4005] +synonym: "malignant paediatric neoplasm" EXACT OMO:0003005 [] +synonym: "malignant paediatric tumour" EXACT OMO:0003005 [] synonym: "malignant pediatric neoplasm" EXACT [NCIT:C4005] synonym: "malignant pediatric tumor" EXACT [NCIT:C4005] +synonym: "paediatric cancer" EXACT OMO:0003005 [] synonym: "pediatric cancer" EXACT [NCIT:C4005] xref: EFO:1000654 {source="MONDO:equivalentTo"} xref: NCIT:C4005 {source="MONDO:equivalentTo"} @@ -112877,10 +115815,14 @@ synonym: "malignant neoplasm of rectum" EXACT [DOID:1993, ICD9CM:154.1, MONDO:pa synonym: "malignant neoplasm of the rectum" EXACT [NCIT:C7418] synonym: "malignant rectal neoplasm" EXACT [NCIT:C7418] synonym: "malignant rectal tumor" EXACT [DOID:1993, NCIT:C7418] +synonym: "malignant rectal tumour" EXACT OMO:0003005 [] synonym: "malignant rectum neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant rectum tumor" EXACT [DOID:1993] +synonym: "malignant rectum tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of rectum" EXACT [NCIT:C7418] synonym: "malignant tumor of the rectum" EXACT [NCIT:C7418] +synonym: "malignant tumour of rectum" EXACT OMO:0003005 [] +synonym: "malignant tumour of the rectum" EXACT OMO:0003005 [] synonym: "rectal cancer" EXACT [DOID:1993] synonym: "rectum cancer" EXACT [MONDO:patterns/location] xref: DOID:1993 {source="MONDO:equivalentTo", source="EFO:1000657"} @@ -113181,10 +116123,14 @@ id: MONDO:0006536 name: congenital generalized lipodystrophy def: "An extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues." [Wikipedia:Congenital_generalized_lipodystrophy] synonym: "Beradinelli-Seip syndrome" RELATED EXCLUDE [DOID:0050585] +synonym: "congenital generalised lipodystrophy (disease)" EXACT OMO:0003005 [] synonym: "congenital generalized lipodystrophy" EXACT [MONDO:ambiguous] synonym: "congenital generalized lipodystrophy (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] +synonym: "familial generalised lipodystrophy" EXACT OMO:0003005 [] synonym: "familial generalized lipodystrophy" EXACT [MONDO:cjm] +synonym: "hereditary generalised lipodystrophy" EXACT OMO:0003005 [] synonym: "hereditary generalized lipodystrophy" EXACT [MONDO:patterns/hereditary] +synonym: "lipodystrophy, congenital generalised" EXACT OMO:0003005 [] synonym: "lipodystrophy, congenital generalized" EXACT [OMIMPS:608594] xref: DOID:0050585 {source="EFO:1000681", source="MONDO:equivalentTo"} xref: EFO:1000681 {source="MONDO:equivalentTo"} @@ -113795,6 +116741,7 @@ name: kernicterus due to isoimmunization def: "Encephalopathy in infants due to high levels of unconjugated bilirubin that are a result of Rh incompatibility between the mother and the fetus." [NCIT:P378] synonym: "kernicterus - due to isoimm." EXACT [DOID:12043] synonym: "kernicterus due to isoimmunization of fetus or newborn" EXACT [DOID:12043, ICD9CM:773.4] +synonym: "kernicterus due to isoimmunization of foetus or newborn" EXACT OMO:0003005 [] synonym: "kernicterus related to isoimmunization" EXACT [NCIT:C101270] xref: DOID:12043 {source="MONDO:equivalentTo", source="EFO:1000721"} xref: EFO:1000721 {source="MONDO:equivalentTo"} @@ -114593,6 +117540,7 @@ name: seborrheic infantile dermatitis def: "Excessive shedding of dry scaly material from the scalp in humans." [MESH:D063807] synonym: "complement 5 dysfunction" EXACT [DOID:8941] synonym: "cradle cap" EXACT [DOID:8941] +synonym: "generalised seborrheic dermatitis of infants" EXACT OMO:0003005 [] synonym: "generalized seborrheic dermatitis of infants" EXACT [DOID:8941] synonym: "infantile seborrheic dermatitis" EXACT [DOID:8941] synonym: "infantile seborrhoeic dermatitis" EXACT [DOID:8941] @@ -115102,6 +118050,7 @@ synonym: "adrenal cortical adenocarcinoma" EXACT [DOID:3959, MONDO:0002818, NCIT synonym: "adrenal cortical carcinoma" EXACT [NCIT:C9325] synonym: "adrenal cortical carcinoma (morphologic abnormality)" EXACT [DOID:3948] synonym: "adrenal cortical tumors" BROAD [DOID:660] +synonym: "adrenal cortical tumours" BROAD OMO:0003005 [] synonym: "adrenocortical cancer" BROAD [NCIT:C9325] synonym: "adrenocortical carcinoma" EXACT [MONDO:0015460, MONDO:ambiguous, NCIT:C9325] synonym: "adrenocortical carcinoma (disease)" EXACT [MONDO:0005241] @@ -115112,8 +118061,10 @@ synonym: "carcinoma of the adrenal cortex" EXACT [DOID:3948, NCIT:C9325] synonym: "carcinoma, adrenocortical, malignant" EXACT [NCIT:C9325] synonym: "cortical cell carcinoma" EXACT [NCIT:C9325] synonym: "malignant adrenocortical tumor" BROAD [DOID:660, NCIT:C9327] +synonym: "malignant adrenocortical tumour" BROAD OMO:0003005 [] synonym: "malignant neoplasm of adrenal cortex" BROAD [DOID:660] synonym: "malignant tumor of adrenal cortex" BROAD [DOID:660] +synonym: "malignant tumour of adrenal cortex" BROAD OMO:0003005 [] synonym: "neoplasm of adrenal cortex" BROAD EXCLUDE [DOID:660] xref: DOID:3948 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="EFO:0003093"} xref: DOID:3959 {source="MONDO:equivalentTo"} @@ -115348,7 +118299,9 @@ name: anterior ischemic optic neuropathy def: "Anterior ischemic optic neuropathy (AION) is an eye disease characterized by infarction of the optic disk leading to vision loss. It can be nonarteritic (nonarteritic anterior ischemic optic neuropathy or NAION) or arteritic, the latter being associated with giant cell arteritis (GCA; often termed temporal arteritis). Vision loss with both varieties is typically rapid (over minutes, hours, or days) and painless. Symptoms such as a general feeling of being unwell (malaise), muscle aches and pains, headaches over the temple, pain when combing hair, pain in the jaw after chewing, and tenderness over the temporal artery (one of the major arteries of the head) may be present with giant cell arteritis. At exam, visual acuity is reduced and the optic disk is swollen. In both subtypes, visual field examination is often reduced in the inferior and central visual fields. The visual loss is usually permanent, with some recovery possibly occurring within the first weeks or months. The arteritic variety is treated with corticosteroids. Treatment of the nonarteritic variety withaspirinor corticosteroids has not been helpful." [https://rarediseases.info.nih.gov/diseases/9790/anterior-ischemic-optic-neuropathy] subset: gard_rare {source="GARD:0009790"} synonym: "aion" RELATED [GARD:0009790] +synonym: "ischaemic optic neuropathy" EXACT OMO:0003005 [] synonym: "ischemic optic neuropathy" EXACT [DOID:12010, ICD9CM:377.41] +synonym: "optic disc infarction leading to vision loss" RELATED OMO:0003005 [] synonym: "optic disk infarction leading to vision loss" RELATED [] xref: DOID:12010 {source="EFO:1000809", source="MONDO:equivalentTo"} xref: EFO:1000809 {source="MONDO:equivalentTo"} @@ -115609,11 +118562,14 @@ synonym: "asphyxia, in liveborn infant" EXACT [DOID:11088] synonym: "birth asphyxia" EXACT [DOID:11088] synonym: "birth depression" EXACT [NCIT:C116313] synonym: "fetal asphyxia" EXACT [NCIT:C116313] +synonym: "foetal asphyxia" EXACT OMO:0003005 [] synonym: "HIE" EXACT [Orphanet:137577] synonym: "hypoxia neonatorum" EXACT [GARD:0005857] +synonym: "hypoxic and ischaemic brain injury in the newborn" RELATED OMO:0003005 [] synonym: "hypoxic and ischemic brain injury in the newborn" RELATED [Orphanet:137577] synonym: "hypoxic-ischemic encephalopathy" EXACT [Orphanet:137577] synonym: "intrapartum asphyxia" EXACT [NCIT:C116313] +synonym: "neonatal hypoxic and ischaemic brain injury" RELATED OMO:0003005 [] synonym: "neonatal hypoxic and ischemic brain injury" RELATED [Orphanet:137577] synonym: "perinatal asphyxia" EXACT [NCIT:C116313] synonym: "perinatal depression" EXACT [NCIT:C116313] @@ -116322,14 +119278,18 @@ def: "A malignant neoplasm involving the optic choroid." [https://orcid.org/0000 synonym: "cancer of optic choroid" EXACT [MONDO:patterns/cancer] synonym: "choroid neoplasm" BROAD [DOID:12759] synonym: "choroidal tumor" BROAD [DOID:12759, NCIT:C2949] +synonym: "choroidal tumour" BROAD OMO:0003005 [] synonym: "malignant choroid neoplasm" EXACT [NCIT:C3566] synonym: "malignant choroid tumor" EXACT [NCIT:C3566] +synonym: "malignant choroid tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of choroid" EXACT [NCIT:C3566] synonym: "malignant neoplasm of optic choroid" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of the choroid" EXACT [NCIT:C3566] synonym: "malignant optic choroid neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of choroid" EXACT [NCIT:C3566] synonym: "malignant tumor of the choroid" EXACT [DOID:12759, NCIT:C3566] +synonym: "malignant tumour of choroid" EXACT OMO:0003005 [] +synonym: "malignant tumour of the choroid" EXACT OMO:0003005 [] synonym: "neoplasm of choroid" RELATED EXCLUDE [DOID:12759] synonym: "optic choroid cancer" EXACT [MONDO:patterns/location] xref: DOID:12759 {source="MONDO:equivalentTo", source="EFO:1000866"} @@ -116488,8 +119448,10 @@ name: common bile duct neoplasm def: "Tumor or cancer of the common bile duct including the ampulla of vater and the sphincter of oddi." [MESH:D003138] synonym: "common bile duct neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "common bile duct tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "common bile duct tumour" EXACT OMO:0003005 [] synonym: "neoplasm of common bile duct" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of common bile duct" EXACT [MONDO:patterns/neoplasm] +synonym: "tumour of common bile duct" EXACT OMO:0003005 [] xref: DOID:4608 {source="MONDO:equivalentTo", source="EFO:1000876"} xref: EFO:1000876 {source="MONDO:equivalentTo"} xref: MESH:D003138 {source="MONDO:equivalentTo", source="EFO:1000876", source="DOID:4608"} @@ -116657,6 +119619,7 @@ synonym: "dermatofibroma, no ICD-O subtype (morphologic abnormality)" EXACT [DOI synonym: "DF" RELATED ABBREVIATION [ONCOTREE:DF] synonym: "fibrohistiocytic neoplasm" EXACT [DOID:4418, NCIT:C8402] synonym: "fibrohistiocytic tumor" RELATED [DOID:4418] +synonym: "fibrohistiocytic tumour" RELATED OMO:0003005 [] synonym: "fibrous histiocytoma of skin" EXACT [NCIT:C6801] synonym: "fibrous histiocytoma of the skin" EXACT [NCIT:C6801] synonym: "fibrous xanthoma of skin" EXACT [DOID:4418] @@ -116949,10 +119912,13 @@ alt_id: MONDO:0021504 def: "A non-metastasizing neoplasm arising from the wall of the duodenum." [NCIT:C4775] synonym: "benign duodenal neoplasm" EXACT [NCIT:C4775] synonym: "benign duodenal tumor" EXACT [NCIT:C4775] +synonym: "benign duodenal tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of duodenum" EXACT [NCIT:C4775] synonym: "benign neoplasm of the duodenum" EXACT [NCIT:C4775] synonym: "benign tumor of duodenum" EXACT [NCIT:C4775] synonym: "benign tumor of the duodenum" EXACT [NCIT:C4775] +synonym: "benign tumour of duodenum" EXACT OMO:0003005 [] +synonym: "benign tumour of the duodenum" EXACT OMO:0003005 [] synonym: "duodenal benign neoplasm" RELATED [DOID:1737] synonym: "duodenum benign neoplasm" EXACT [MONDO:patterns/location] synonym: "neoplasm of duodenum" RELATED EXCLUDE [DOID:1737] @@ -117066,6 +120032,7 @@ id: MONDO:0006739 name: Ehrlich tumor carcinoma def: "A transplantable, poorly differentiated malignant tumor which appeared originally as a spontaneous breast carcinoma in a mouse. It grows in both solid and ascitic forms." [MESH:D002286] synonym: "Ehrlich's tumor" EXACT [DOID:5050] +synonym: "Ehrlich's tumour" EXACT OMO:0003005 [] xref: DOID:5050 {source="MONDO:equivalentTo", source="EFO:1000913"} xref: EFO:1000913 {source="MONDO:equivalentTo"} xref: MESH:D002286 {source="MONDO:equivalentTo", source="DOID:5050", source="EFO:1000913"} @@ -117112,8 +120079,9 @@ id: MONDO:0006742 name: endemic goiter def: "Thyroid gland enlargement caused by inadequate dietary iodine intake. It occurs in areas in which the soil lacks iodine compounds or there is low seafood consumption." [NCIT:P378] synonym: "iodine-deficiency-related endemic goiter" EXACT [DOID:13198] -synonym: "simple goiter" EXACT [DOID:13198] -synonym: "simple goiter" EXACT [NCIT:C35023] +synonym: "iodine-deficiency-related endemic goitre" EXACT OMO:0003005 [] +synonym: "simple goiter" EXACT [DOID:13198, NCIT:C35023] +synonym: "simple goitre" EXACT OMO:0003005 [] xref: DOID:13198 {source="EFO:1000916", source="MONDO:equivalentTo"} xref: EFO:1000916 {source="MONDO:equivalentTo"} xref: ICD10CM:E01.0 {source="DOID:13198"} @@ -117435,6 +120403,7 @@ synonym: "erythroblastosis fetalis" EXACT [DOID:1098] synonym: "haemolytic disease due to rhesus isoimmunisation" EXACT [DOID:1098] synonym: "HDFN" EXACT ABBREVIATION [NCIT:C101304] synonym: "hemolytic disease of the fetus or newborn" EXACT [NCIT:C101304] +synonym: "hemolytic disease of the foetus or newborn" EXACT OMO:0003005 [] synonym: "hemolytic disease of the newborn" EXACT [NCIT:C101304] synonym: "isoimmune hemolytic disease of the newborn" EXACT [NCIT:C101304] synonym: "rhesus isoimmunisation of the newborn" EXACT [DOID:1098] @@ -118114,12 +121083,16 @@ name: hypothalamic neoplasm def: "A primary or metastatic neoplasm that affects the hypothalamus." [NCIT:P378] synonym: "hypothalamic neoplasms" EXACT [NCIT:C3129] synonym: "hypothalamic tumor" EXACT [NCIT:C3129] +synonym: "hypothalamic tumour" EXACT OMO:0003005 [] synonym: "hypothalamus neoplasm" EXACT [] synonym: "hypothalamus tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "hypothalamus tumour" EXACT OMO:0003005 [] synonym: "neoplasm of hypothalamus" EXACT [MONDO:patterns/neoplasm, NCIT:C3129] synonym: "neoplasm of the hypothalamus" EXACT [DOID:3644, NCIT:C3129] synonym: "tumor of hypothalamus" EXACT [MONDO:patterns/neoplasm, NCIT:C3129] synonym: "tumor of the hypothalamus" EXACT [NCIT:C3129] +synonym: "tumour of hypothalamus" EXACT OMO:0003005 [] +synonym: "tumour of the hypothalamus" EXACT OMO:0003005 [] xref: DOID:3644 {source="MONDO:equivalentTo", source="EFO:1000979"} xref: EFO:1000979 {source="MONDO:equivalentTo"} xref: MESH:D007029 {source="MONDO:equivalentTo", source="DOID:3644", source="EFO:1000979"} @@ -118160,13 +121133,17 @@ name: ileal neoplasm alt_id: MONDO:0021376 def: "A benign or malignant neoplasm that affects the wall of the ileum. Representative examples include adenoma, carcinoma, and lymphoma." [NCIT:P378] synonym: "ileal tumor" EXACT [DOID:10156, NCIT:C3130] +synonym: "ileal tumour" EXACT OMO:0003005 [] synonym: "ileum neoplasm" EXACT [] synonym: "ileum neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "ileum tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "ileum tumour" EXACT OMO:0003005 [] synonym: "neoplasm of ileum" EXACT [MONDO:patterns/neoplasm, NCIT:C3130] synonym: "neoplasm of the ileum" EXACT [NCIT:C3130] synonym: "tumor of ileum" EXACT [MONDO:patterns/neoplasm, NCIT:C3130] synonym: "tumor of the ileum" EXACT [NCIT:C3130] +synonym: "tumour of ileum" EXACT OMO:0003005 [] +synonym: "tumour of the ileum" EXACT OMO:0003005 [] xref: DOID:10156 {source="MONDO:equivalentTo", source="EFO:1000981"} xref: EFO:1000981 {source="MONDO:equivalentTo"} xref: MESH:D007078 {source="MONDO:equivalentTo", source="EFO:1000981", source="DOID:10156"} @@ -118438,6 +121415,7 @@ synonym: "jejunum cancer" EXACT [MONDO:patterns/location] synonym: "malignant jejunum neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of jejunum" EXACT [DOID:13499, ICD9CM:152.1, MONDO:patterns/cancer, MTH:U001249] synonym: "malignant tumor of jejunum" EXACT [DOID:13499] +synonym: "malignant tumour of jejunum" EXACT OMO:0003005 [] xref: DOID:13499 {source="MONDO:equivalentTo", source="EFO:1000998"} xref: EFO:1000998 {source="MONDO:equivalentTo"} xref: ICD10CM:C17.1 {source="DOID:13499"} @@ -118710,6 +121688,8 @@ def: "A syndrome produced by severe protein deficiency, characterized by retarde synonym: "Kwashiokor" EXACT [DOID:13579] synonym: "nutritional edema with dyspigmentation of skin and hair" EXACT [DOID:13579] synonym: "nutritional edema with dyspigmentation of skin and/or hair" EXACT [DOID:13579] +synonym: "nutritional oedema with dyspigmentation of skin and hair" EXACT OMO:0003005 [] +synonym: "nutritional oedema with dyspigmentation of skin and/or hair" EXACT OMO:0003005 [] xref: DOID:13579 {source="MONDO:equivalentTo", source="EFO:1001009"} xref: EFO:1001009 {source="MONDO:equivalentTo"} xref: ICD10CM:E40 {source="DOID:13579", source="MONDO:equivalentTo", source="EFO:1001009"} @@ -118853,6 +121833,7 @@ synonym: "lip cancer" EXACT [MONDO:patterns/location] synonym: "malignant Lip neoplasm" EXACT [NCIT:C7485] synonym: "malignant lip neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant Lip tumor" EXACT [NCIT:C7485] +synonym: "malignant Lip tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of commissure of lip" EXACT [DOID:8564] synonym: "malignant neoplasm of external Lip, not specified as upper or lower" EXACT [DOID:8564] synonym: "malignant neoplasm of labial commissure of lip" EXACT [DOID:8564] @@ -118879,6 +121860,13 @@ synonym: "malignant tumor of Lip" EXACT [NCIT:C7485] synonym: "malignant tumor of lip" EXACT [DOID:8564] synonym: "malignant tumor of lower labial mucosa" EXACT [DOID:8564] synonym: "malignant tumor of the Lip" EXACT [DOID:8564, NCIT:C7485] +synonym: "malignant tumour of commissure of lip" EXACT OMO:0003005 [] +synonym: "malignant tumour of labial commissure" EXACT OMO:0003005 [] +synonym: "malignant tumour of labial mucosa" EXACT OMO:0003005 [] +synonym: "malignant tumour of Lip" EXACT OMO:0003005 [] +synonym: "malignant tumour of lip" EXACT OMO:0003005 [] +synonym: "malignant tumour of lower labial mucosa" EXACT OMO:0003005 [] +synonym: "malignant tumour of the Lip" EXACT OMO:0003005 [] xref: DOID:8564 {source="MONDO:equivalentTo", source="EFO:1001019"} xref: EFO:1001019 {source="MONDO:equivalentTo"} xref: ICD10CM:C00 {source="MONDO:equivalentTo", source="DOID:8564"} @@ -119209,11 +122197,14 @@ alt_id: MONDO:0021213 def: "A benign or malignant neoplasm that affects the maxillary sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma." [NCIT:C3219] synonym: "maxillary antrum neoplasm" EXACT [NCIT:C3219] synonym: "maxillary antrum tumor" EXACT [NCIT:C3219] +synonym: "maxillary antrum tumour" EXACT OMO:0003005 [] synonym: "maxillary sinus neoplasm" EXACT [NCIT:C3219] synonym: "maxillary sinus neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "maxillary sinus tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3219] +synonym: "maxillary sinus tumour" EXACT OMO:0003005 [] synonym: "maxillofacial sinus neoplasm" EXACT [NCIT:C3219] synonym: "maxillofacial sinus tumor" EXACT [NCIT:C3219] +synonym: "maxillofacial sinus tumour" EXACT OMO:0003005 [] synonym: "neoplasm of maxillary antrum" EXACT [NCIT:C3219] synonym: "neoplasm of maxillary sinus" EXACT [MONDO:patterns/neoplasm, NCIT:C3219] synonym: "neoplasm of maxillofacial sinus" EXACT [NCIT:C3219] @@ -119226,6 +122217,12 @@ synonym: "tumor of maxillofacial sinus" EXACT [DOID:1358, NCIT:C3219] synonym: "tumor of the maxillary antrum" EXACT [NCIT:C3219] synonym: "tumor of the maxillary sinus" EXACT [NCIT:C3219] synonym: "tumor of the maxillofacial sinus" EXACT [NCIT:C3219] +synonym: "tumour of maxillary antrum" EXACT OMO:0003005 [] +synonym: "tumour of maxillary sinus" EXACT OMO:0003005 [] +synonym: "tumour of maxillofacial sinus" EXACT OMO:0003005 [] +synonym: "tumour of the maxillary antrum" EXACT OMO:0003005 [] +synonym: "tumour of the maxillary sinus" EXACT OMO:0003005 [] +synonym: "tumour of the maxillofacial sinus" EXACT OMO:0003005 [] xref: DOID:1358 {source="EFO:1001035", source="MONDO:equivalentTo"} xref: EFO:1001035 {source="MONDO:equivalentTo"} xref: MedDRA:10026130 {source="EFO:1001035"} @@ -119329,6 +122326,7 @@ name: mesothelial neoplasm def: "A benign or malignant neoplasm arising from mesothelial cells. Mesothelial cells are the lining cells of the pleura and peritoneum. -- 2003" [NCIT:C3786] synonym: "mesothelial neoplasm" EXACT [NCIT:C3786] synonym: "mesothelial tumor" EXACT [NCIT:C3786] +synonym: "mesothelial tumour" EXACT OMO:0003005 [] xref: DOID:159 {source="EFO:1001044", source="MONDO:obsolete"} xref: EFO:1001044 {source="MONDO:equivalentTo"} xref: ICD10CM:C45-C49 {source="MONDO:relatedTo", source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} @@ -119413,6 +122411,7 @@ def: "A tumor mass composed of myeloblasts or immature myeloid cells. It occurs subset: ordo_disease {source="Orphanet:86850"} synonym: "chloroma" EXACT [DOID:8683, NCIT:C3520, Orphanet:86850] synonym: "extramedullary myeloid tumor" EXACT [DOID:8683, NCIT:C3520, Orphanet:86850] +synonym: "extramedullary myeloid tumour" EXACT OMO:0003005 [] synonym: "granulocytic sarcoma" RELATED [DOID:8683, NCIT:C35815, Orphanet:86850] synonym: "MS" RELATED ABBREVIATION [ONCOTREE:MS] synonym: "myeloid sarcoma" EXACT [MONDO:0019459, NCIT:C3520] @@ -119580,10 +122579,11 @@ id: MONDO:0006869 name: nodular goiter def: "Goiter characterized by discrete tissue mass(es) that may or may not produce thyroid hormones." [NCIT:C131437] synonym: "goiter, nodular" EXACT [DOID:13197, MTH:494, MTH:733] -synonym: "nodular goiter" EXACT [MONDO:ambiguous] -synonym: "nodular goiter" EXACT [DOID:13197] +synonym: "nodular goiter" EXACT [DOID:13197, MONDO:ambiguous] synonym: "nodular goiter (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "nodular goiter NOS" RELATED EXCLUDE [DOID:13197] +synonym: "nodular goitre (disease)" EXACT OMO:0003005 [] +synonym: "nodular goitre NOS" RELATED OMO:0003005 [] xref: DOID:13197 {source="MONDO:equivalentTo", source="EFO:1001062"} xref: EFO:1001062 {source="MONDO:equivalentTo"} xref: HP:0005994 {source="MONDO:otherHierarchy"} @@ -119761,6 +122761,8 @@ intersection_of: disease_has_infectious_agent NCBITaxon:468 ! Moraxellaceae id: MONDO:0006879 name: optic papillitis def: "Swelling of the optic disk, usually in association with increased intracranial pressure, characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins. Chronic papilledema may cause optic atrophy and visual loss. (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p175)" [MESH:D010211] +synonym: "Choked disc" EXACT OMO:0003005 [] +synonym: "Choked discs" EXACT OMO:0003005 [] synonym: "Choked disk" EXACT [MESH:D010211] synonym: "Choked disks" EXACT [MESH:D010211] synonym: "decreased intraocular pressure associated papilledema" EXACT [MESH:D010211] @@ -119768,19 +122770,26 @@ synonym: "decreased intraocular pressure-associated papilledema" EXACT [MESH:D01 synonym: "disk, Choked" EXACT [MESH:D010211] synonym: "disks, Choked" EXACT [MESH:D010211] synonym: "edema of the optic disk" EXACT [MESH:D010211] +synonym: "edema, optic disc" EXACT OMO:0003005 [] synonym: "edema, optic disk" EXACT [MESH:D010211] synonym: "edema, optic papilla" EXACT [MESH:D010211] synonym: "edema, retinal" RELATED [MESH:D010211] +synonym: "Edemas, optic disc" EXACT OMO:0003005 [] synonym: "Edemas, optic disk" EXACT [MESH:D010211] synonym: "Edemas, retinal" RELATED [MESH:D010211] synonym: "increased intracranial pressure associated papilledema" EXACT [MESH:D010211] synonym: "increased intracranial pressure-associated papilledema" EXACT [MESH:D010211] +synonym: "inflammation of optic disc" EXACT OMO:0003005 [] synonym: "inflammation of optic disk" EXACT [] +synonym: "oedema of the optic disc" EXACT OMO:0003005 [] +synonym: "optic disc inflammation" EXACT OMO:0003005 [] +synonym: "optic disc oedema" EXACT OMO:0003005 [] synonym: "optic discitis" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "optic disk edema" EXACT [MESH:D010211] synonym: "optic disk inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "optic nerve papillitis" EXACT [MESH:D010211] synonym: "optic papilla edema" EXACT [MESH:D010211] +synonym: "optic papilla oedema" EXACT OMO:0003005 [] synonym: "optic papillitis" EXACT [MESH:D010211] synonym: "papilledema associated with decreased intraocular pressure" EXACT [MESH:D010211] synonym: "papilledema associated with increased intracranial pressure" EXACT [MESH:D010211] @@ -119789,6 +122798,7 @@ synonym: "papillitis, optic" EXACT [MESH:D010211] synonym: "papillitis, optic nerve" EXACT [MESH:D010211] synonym: "retinal edema" RELATED [MESH:D010211] synonym: "retinal Edemas" RELATED [MESH:D010211] +synonym: "retinal oedema" RELATED OMO:0003005 [] xref: DOID:10175 {source="EFO:1001074", source="MONDO:equivalentTo"} xref: EFO:1001074 {source="MONDO:equivalentTo"} xref: ICD10CM:H35.81 {source="DOID:10175"} @@ -119896,21 +122906,28 @@ def: "A malignant neoplasm originating from the apical lung. Most malignant supe synonym: "malignant pulmonary sulcus neoplasm" EXACT [] synonym: "malignant Superior sulcus lung neoplasm" EXACT [NCIT:C7527] synonym: "malignant Superior sulcus lung tumor" EXACT [NCIT:C7527] +synonym: "malignant Superior sulcus lung tumour" EXACT OMO:0003005 [] synonym: "malignant Superior sulcus neoplasm" EXACT [NCIT:C7527] synonym: "malignant Superior sulcus neoplasm of lung" EXACT [NCIT:C7527] synonym: "malignant Superior sulcus neoplasm of the lung" EXACT [NCIT:C7527] synonym: "malignant Superior sulcus tumor" EXACT [DOID:8007, NCIT:C7527] synonym: "malignant Superior sulcus tumor of lung" EXACT [NCIT:C7527] synonym: "malignant Superior sulcus tumor of the lung" EXACT [NCIT:C7527] +synonym: "malignant Superior sulcus tumour" EXACT OMO:0003005 [] +synonym: "malignant Superior sulcus tumour of lung" EXACT OMO:0003005 [] +synonym: "malignant Superior sulcus tumour of the lung" EXACT OMO:0003005 [] synonym: "Pancoast tumor" EXACT [NCIT:C7527] +synonym: "Pancoast tumour" EXACT OMO:0003005 [] synonym: "Pancoast's syndrome" RELATED [DOID:8007] -synonym: "Pancoast's tumor" EXACT [DOID:8007] -synonym: "Pancoast's tumor" EXACT [NCIT:C7527] +synonym: "Pancoast's tumor" EXACT [DOID:8007, NCIT:C7527] +synonym: "Pancoast's tumour" EXACT OMO:0003005 [] synonym: "pulmonary sulcus neoplasm, malignant" EXACT [MONDO:patterns/malignant] synonym: "pulmonary sulcus tumor" RELATED EXCLUDE [DOID:8007] +synonym: "pulmonary sulcus tumour" RELATED OMO:0003005 [] synonym: "superior pulmonary sulcus syndrome" EXACT [DOID:8007] synonym: "superior pulmonary sulcus syndrome (disorder) [ambiguous]" RELATED [DOID:8007] synonym: "superior sulcus tumor" RELATED [] +synonym: "superior sulcus tumour" RELATED OMO:0003005 [] xref: DOID:8007 {source="MONDO:equivalentTo", source="EFO:1001080"} xref: EFO:1001080 {source="MONDO:equivalentTo"} xref: MESH:D010178 {source="DOID:8007", source="MONDO:relatedTo", source="EFO:1001080"} @@ -120128,11 +123145,15 @@ synonym: "neoplasm of the penis" EXACT [NCIT:C3317] synonym: "penile neoplasm" EXACT [NCIT:C3317] synonym: "penile neoplasms" EXACT [NCIT:C3317] synonym: "penile tumor" EXACT [DOID:11624, NCIT:C3317] +synonym: "penile tumour" EXACT OMO:0003005 [] synonym: "penis neoplasm" EXACT [] synonym: "penis neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "penis tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "penis tumour" EXACT OMO:0003005 [] synonym: "tumor of penis" EXACT [MONDO:patterns/neoplasm, NCIT:C3317] synonym: "tumor of the penis" EXACT [NCIT:C3317] +synonym: "tumour of penis" EXACT OMO:0003005 [] +synonym: "tumour of the penis" EXACT OMO:0003005 [] xref: DOID:11624 {source="MONDO:equivalentTo", source="EFO:1001094"} xref: EFO:1001094 {source="MONDO:equivalentTo"} xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -120241,7 +123262,9 @@ synonym: "peritoneal neoplasm" EXACT [NCIT:C3322] synonym: "peritoneum neoplasm" EXACT [] synonym: "peritoneum neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "peritoneum tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "peritoneum tumour" EXACT OMO:0003005 [] synonym: "tumor of peritoneum" EXACT [MONDO:patterns/neoplasm] +synonym: "tumour of peritoneum" EXACT OMO:0003005 [] xref: DOID:4884 {source="EFO:1001100", source="MONDO:obsolete"} xref: EFO:1001100 {source="MONDO:equivalentTo"} xref: MedDRA:10061344 {source="EFO:1001100"} @@ -121239,6 +124262,7 @@ synonym: "carcinoma of sebaceous gland" EXACT [NCIT:C40310] synonym: "carcinoma of the sebaceous gland" EXACT [NCIT:C40310] synonym: "malignant neoplasm of sebaceous gland" RELATED EXCLUDE [DOID:4840] synonym: "malignant sebaceous tumor" NARROW [DOID:4840, NCIT:C8409] +synonym: "malignant sebaceous tumour" NARROW OMO:0003005 [] synonym: "Seba" RELATED [ONCOTREE:SEBA] synonym: "sebaceous cancer" EXACT [NCIT:C40310] synonym: "sebaceous carcinoma" EXACT [DOID:4839, MONDO:0003160, NCIT:C40310] @@ -121273,9 +124297,12 @@ synonym: "neoplasm of sebaceous gland" EXACT [MONDO:patterns/neoplasm] synonym: "sebaceous gland neoplasm" EXACT [NCIT:C3363] synonym: "sebaceous gland neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "sebaceous gland tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3363] +synonym: "sebaceous gland tumour" EXACT OMO:0003005 [] synonym: "sebaceous neoplasm" EXACT [DOID:5759, NCIT:C3363] synonym: "sebaceous tumor" EXACT [NCIT:C3363] +synonym: "sebaceous tumour" EXACT OMO:0003005 [] synonym: "tumor of sebaceous gland" EXACT [MONDO:patterns/neoplasm] +synonym: "tumour of sebaceous gland" EXACT OMO:0003005 [] xref: DOID:5759 {source="MONDO:equivalentTo", source="EFO:1001172"} xref: EFO:1001172 {source="MONDO:equivalentTo"} xref: ICD9:239.2 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -121451,7 +124478,9 @@ synonym: "neoplasm of sigmoid colon" EXACT [MONDO:patterns/neoplasm] synonym: "sigmoid colon neoplasm" EXACT [] synonym: "sigmoid colon neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "sigmoid colon tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "sigmoid colon tumour" EXACT OMO:0003005 [] synonym: "tumor of sigmoid colon" EXACT [MONDO:patterns/neoplasm] +synonym: "tumour of sigmoid colon" EXACT OMO:0003005 [] xref: DOID:1896 {source="MONDO:equivalentTo", source="EFO:1001181"} xref: EFO:1001181 {source="MONDO:equivalentTo"} xref: ICD9:153.3 {source="EFO:1001181"} @@ -121532,6 +124561,8 @@ synonym: "smooth muscle neoplasm" EXACT [NCIT:C3751] synonym: "smooth muscle tumor" EXACT [NCIT:C3751] synonym: "tumor of smooth muscle" EXACT [NCIT:C3751] synonym: "tumor of the smooth muscle" EXACT [NCIT:C3751] +synonym: "tumour of smooth muscle" EXACT OMO:0003005 [] +synonym: "tumour of the smooth muscle" EXACT OMO:0003005 [] xref: DOID:4310 {source="EFO:1001185", source="MONDO:equivalentTo"} xref: EFO:1001185 {source="MONDO:equivalentTo"} xref: MESH:D018235 {source="DOID:4310", source="EFO:1001185", source="MONDO:equivalentTo"} @@ -121554,19 +124585,26 @@ subset: ordo_disease {source="Orphanet:97283"} synonym: "ampullary somatostatinoma" RELATED [GARD:0004900] synonym: "carcinoid somatostatinoma" RELATED [GARD:0004900] synonym: "Delta cell tumor" EXACT [NCIT:C3379] +synonym: "Delta cell tumour" EXACT OMO:0003005 [] synonym: "malignant islet cell tumor" RELATED [GARD:0004900] +synonym: "malignant islet cell tumour" RELATED OMO:0003005 [] synonym: "Somatomedin-secreting carcinoid" RELATED [GARD:0004900] synonym: "somatostatin cell neoplasm" EXACT [DOID:4430, NCIT:C3379] -synonym: "somatostatin cell tumor" EXACT [NCIT:C3379] -synonym: "somatostatin cell tumor" EXACT [DOID:4430] +synonym: "somatostatin cell tumor" EXACT [DOID:4430, NCIT:C3379] +synonym: "somatostatin cell tumour" EXACT OMO:0003005 [] synonym: "somatostatin producing tumor" EXACT [NCIT:C3379] +synonym: "somatostatin producing tumour" EXACT OMO:0003005 [] synonym: "somatostatin-producing NET" EXACT [NCIT:C3379] synonym: "somatostatin-producing neuroendocrine tumor" EXACT [NCIT:C3379] +synonym: "somatostatin-producing neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "somatostatin-producing tumor" EXACT [NCIT:C3379] +synonym: "somatostatin-producing tumour" EXACT OMO:0003005 [] synonym: "somatostatin-secreting pancreatic neoplasm" RELATED [GARD:0004900] synonym: "somatostatinoma" EXACT [NCIT:C3379] synonym: "tumor of Delta cells" EXACT [NCIT:C3379] synonym: "tumor of the Delta cells" EXACT [NCIT:C3379] +synonym: "tumour of Delta cells" EXACT OMO:0003005 [] +synonym: "tumour of the Delta cells" EXACT OMO:0003005 [] xref: DOID:4430 {source="EFO:1001187", source="MONDO:equivalentTo"} xref: EFO:1001187 {source="MONDO:equivalentTo"} xref: ICD10CM:E16.8 {source="Orphanet:97283", source="Orphanet:97283/ntbt"} @@ -121761,6 +124799,7 @@ id: MONDO:0006986 name: substernal goiter def: "An enlarged thyroid gland with at least 50% of the gland situated behind the sternum. It is an unusual presentation of an intrathoracic goiter. Substernal goiters frequently cause compression on the trachea leading to deviation, narrowing, and respiratory symptoms." [MESH:D006045] synonym: "retrosternal thyroid goiter" EXACT [DOID:13200] +synonym: "retrosternal thyroid goitre" EXACT OMO:0003005 [] xref: DOID:13200 {source="EFO:1001198", source="MONDO:equivalentTo"} xref: EFO:1001198 {source="MONDO:equivalentTo"} xref: MESH:D006045 {source="EFO:1001198", source="MONDO:equivalentTo", source="DOID:13200"} @@ -121964,10 +125003,14 @@ synonym: "malignant neoplasm of tonsil" EXACT [MONDO:patterns/cancer, NCIT:C7404 synonym: "malignant neoplasm of tonsil, faucial" EXACT [DOID:8858] synonym: "malignant tonsil neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7404] synonym: "malignant tonsil tumor" EXACT [NCIT:C7404] +synonym: "malignant tonsil tumour" EXACT OMO:0003005 [] synonym: "malignant tonsillar neoplasm" EXACT [NCIT:C7404] synonym: "malignant tonsillar tumor" EXACT [DOID:8858, NCIT:C7404] +synonym: "malignant tonsillar tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of the tonsil" EXACT [NCIT:C7404] synonym: "malignant tumor of tonsil" EXACT [NCIT:C7404] +synonym: "malignant tumour of the tonsil" EXACT OMO:0003005 [] +synonym: "malignant tumour of tonsil" EXACT OMO:0003005 [] synonym: "tonsil cancer" EXACT [MONDO:patterns/location] xref: DOID:8858 {source="MONDO:equivalentTo", source="EFO:1001214"} xref: EFO:1001214 {source="MONDO:equivalentTo"} @@ -123492,8 +126535,10 @@ replaced_by: MONDO:0020458 id: MONDO:0007066 name: adenosine triphosphatase deficiency, anemia due to subset: gard_rare {source="GARD:0000548"} +synonym: "adenosine triphosphatase deficiency anaemia" RELATED OMO:0003005 [] synonym: "adenosine triphosphatase deficiency anemia" RELATED [GARD:0000548] synonym: "adenosine triphosphatase deficiency, anemia due to" EXACT [OMIM:102800] +synonym: "anaemia due to adenosine triphosphatase deficiency" RELATED OMO:0003005 [] synonym: "anemia due to adenosine triphosphatase deficiency" RELATED [GARD:0000548] xref: MESH:C566311 {source="MONDO:equivalentTo"} xref: OMIM:102800 {source="MONDO:equivalentTo"} @@ -124088,7 +127133,9 @@ synonym: "amelogenesis imperfecta, type IB" RELATED [MONDO:Lexical, OMIM:104500] synonym: "autosomal dominant hypoplastic local amelogenesis imperfecta" EXACT [DOID:0110052] synonym: "ENAM amelogenesis imperfecta" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "enam amelogenesis imperfecta" EXACT [MONDO:design_pattern] +synonym: "enamel hypoplasia, hereditary localised" RELATED OMO:0003005 [] synonym: "enamel hypoplasia, hereditary localized" RELATED [OMIM:104500] +synonym: "hereditary localised enamel hypoplasia" EXACT OMO:0003005 [] synonym: "hereditary localized enamel hypoplasia" EXACT [DOID:0110052] xref: DOID:0110052 {source="MONDO:equivalentTo"} xref: ICD10CM:K00.5 {source="DOID:0110052"} @@ -124253,6 +127300,8 @@ synonym: "CST3-related cerebral amyloid angiopathy" RELATED [DOID:0070027] synonym: "cystatin amyloidosis" EXACT [Orphanet:100008] synonym: "HCHWA" RELATED EXCLUDE [DOID:0070027] synonym: "HCHWA, Icelandic type" EXACT [Orphanet:100008] +synonym: "hereditary cerebral haemorrhage with amyloidosis" EXACT OMO:0003005 [] +synonym: "hereditary cerebral haemorrhage with amyloidosis, Icelandic type" EXACT OMO:0003005 [] synonym: "hereditary cerebral hemorrhage with amyloidosis" EXACT [DOID:0070027, OMIM:105150] synonym: "hereditary cerebral hemorrhage with amyloidosis, Icelandic type" EXACT [Orphanet:100008] synonym: "hereditary cystatin C amyloid angiopathy" EXACT [Orphanet:100008] @@ -124370,6 +127419,7 @@ name: familial primary localized cutaneous amyloidosis subset: ordo_disease {source="Orphanet:353220"} synonym: "FPLCA" EXACT ABBREVIATION [Orphanet:353220] synonym: "hereditary primary cutaneous amyloidosis" EXACT [MONDO:patterns/hereditary] +synonym: "primary localised cutaneous amyloidosis" RELATED OMO:0003005 [] synonym: "primary localized cutaneous amyloidosis" RELATED [GARD:0000132] xref: ICD10EXP:E85.4+ {source="Orphanet:353220", source="Orphanet:353220/attributed", source="Orphanet:353220/ntbt"} xref: ICD10EXP:L99.0* {source="Orphanet:353220", source="Orphanet:353220/attributed", source="Orphanet:353220/ntbt"} @@ -124540,6 +127590,7 @@ id: MONDO:0007109 name: congenital dyserythropoietic anemia type 3 def: "Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia." [Orphanet:98870] subset: ordo_disease {source="Orphanet:98870"} +synonym: "anaemia with multinucleated erythroblasts" RELATED OMO:0003005 [] synonym: "anemia with multinucleated erythroblasts" RELATED [OMIM:105600] synonym: "anemia, congenital dyserythropoietic, type III" RELATED [MONDO:Lexical, OMIM:105600] synonym: "CDA 3" RELATED [OMIM:105600] @@ -124579,11 +127630,14 @@ synonym: "aregenerative Anemia, chronic congenital" RELATED [OMIM:105650] synonym: "Blackfan-Diamond syndrome" RELATED [OMIM:105650] synonym: "DBA" BROAD ABBREVIATION [OMIM:105650] synonym: "DBA1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:105650] +synonym: "Diamond-Blackfan anaemia caused by mutation in RPS19" EXACT OMO:0003005 [] +synonym: "Diamond-Blackfan Anaemia type 1" EXACT OMO:0003005 [] synonym: "Diamond-Blackfan anemia 1" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:105650] synonym: "Diamond-Blackfan anemia caused by mutation in RPS19" EXACT [MONDO:design_pattern] synonym: "Diamond-Blackfan Anemia type 1" EXACT [MONDORULE:1, OMIM:105650] synonym: "erythrogenesis imperfecta" RELATED [OMIM:105650] synonym: "Red cell aplasia, Pure, hereditary" RELATED [OMIM:105650] +synonym: "RPS19 Diamond-Blackfan anaemia" EXACT OMO:0003005 [] synonym: "RPS19 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111895 {source="MONDO:equivalentTo"} xref: MESH:C567302 {source="MONDO:equivalentTo"} @@ -124737,6 +127791,7 @@ synonym: "ANHD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:106190] synonym: "anhidrosis caused by mutation in ITPR2" EXACT [MONDO:design_pattern] synonym: "anhidrosis, isolated, with normal sweat glands" RELATED [MONDO:Lexical, OMIM:106190] synonym: "Dann-Epstein-Sohar syndrome" EXACT [DOID:0060603, OMIM:106190] +synonym: "isolated generalised anhidrosis with normal sweat glands" RELATED OMO:0003005 [] synonym: "isolated generalized anhidrosis with normal sweat glands" RELATED [Orphanet:468666] synonym: "ITPR2 anhidrosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060603 {source="MONDO:equivalentTo"} @@ -125458,6 +128513,8 @@ synonym: "cerebral arteriovenous malformation" EXACT [DOID:0060688] synonym: "cerebral arteriovenous malformations" RELATED [OMIM:108010] synonym: "intracranial arteriovenous malformation" EXACT [DOID:0060688, Orphanet:46724] synonym: "intracranial AVM" RELATED [GARD:0003020] +synonym: "intracranial haemorrhage in brain arteriovenous malformations, susceptibility to" RELATED OMO:0003005 [] +synonym: "intracranial haemorrhage in brain cerebrovascular malformations, susceptibility to, somatic mutation" EXACT OMO:0003005 [] synonym: "intracranial hemorrhage in brain arteriovenous malformations, susceptibility to" RELATED [OMIM:108010] synonym: "intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to, somatic mutation" EXACT [OMIM:108010, OMIM:genemap2] xref: DOID:0060688 {source="MONDO:equivalentTo"} @@ -126086,6 +129143,7 @@ synonym: "Gastresophageal reflux" EXACT [DOID:8534] synonym: "gastro-esophageal reflux" EXACT [DOID:8534] synonym: "gastroesophageal reflux" EXACT [DOID:8534, MONDO:Lexical, OMIM:109350] synonym: "gastroesophageal reflux disease" EXACT [DOID:8534, MTH:NOCODE, OMIM:109350] +synonym: "gastroesophageal reflux, paediatric" RELATED OMO:0003005 [] synonym: "gastroesophageal reflux, pediatric" RELATED [OMIM:109350] synonym: "ger" RELATED [MONDO:Lexical, OMIM:109350] synonym: "GERD" EXACT ABBREVIATION [DOID:8534, NCIT:C26781] @@ -127120,7 +130178,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:1297"} synonym: "Bof syndrome" RELATED [OMIM:113620] synonym: "BOFS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:113620, Orphanet:1297] synonym: "BOFS syndrome" RELATED [GARD:0003212] +synonym: "branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature ageing" RELATED OMO:0003005 [] synonym: "branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature aging" RELATED [GARD:0003212] +synonym: "branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature Ageing" RELATED OMO:0003005 [] synonym: "branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature Aging" RELATED [OMIM:113620] synonym: "branchio-oculo-facial syndrome" RELATED [Orphanet:1297] synonym: "branchiooculofacial syndrome" EXACT [MONDO:Lexical, OMIM:113620] @@ -127317,6 +130377,8 @@ synonym: "Burkitt lymphoma/leukemia" EXACT [DOID:8584] synonym: "Burkitt's lymphoma" EXACT [DOID:8584, MTH:NOCODE, NCIT:C2912] synonym: "Burkitt's tumor" EXACT [DOID:8584] synonym: "Burkitt's tumor or lymphoma" EXACT [DOID:8584] +synonym: "Burkitt's tumour" EXACT OMO:0003005 [] +synonym: "Burkitt's tumour or lymphoma" EXACT OMO:0003005 [] synonym: "malignant lymphoma, Burkitt's type" EXACT [DOID:8584] synonym: "small non-cleaved cell lymphoma" EXACT [Orphanet:543] synonym: "small non-cleaved cell lymphoma, Burkitt's type" EXACT [DOID:8584, NCIT:C2912] @@ -127589,16 +130651,21 @@ name: breast cancer def: "A primary or metastatic malignant neoplasm involving the breast. The vast majority of cases are carcinomas arising from the breast parenchyma or the nipple. Malignant breast neoplasms occur more frequently in females than in males." [NCIT:C9335] synonym: "breast cancer" EXACT [MONDO:patterns/location] synonym: "breast tumor" BROAD [DOID:1612, NCIT:C2910] +synonym: "breast tumour" BROAD OMO:0003005 [] synonym: "cancer of breast" EXACT [MONDO:patterns/cancer] synonym: "malignant breast neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C9335] synonym: "malignant breast tumor" EXACT [NCIT:C9335] +synonym: "malignant breast tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of breast" EXACT [DOID:1612, MONDO:patterns/cancer, NCIT:C9335] synonym: "malignant neoplasm of the breast" EXACT [NCIT:C9335] synonym: "malignant tumor of breast" EXACT [NCIT:C9335] synonym: "malignant tumor of the breast" EXACT [DOID:1612, NCIT:C9335] +synonym: "malignant tumour of breast" EXACT OMO:0003005 [] +synonym: "malignant tumour of the breast" EXACT OMO:0003005 [] synonym: "mammary cancer" EXACT [DOID:1612] synonym: "mammary neoplasm" RELATED [DOID:1612] synonym: "mammary tumor" BROAD [DOID:1612] +synonym: "mammary tumour" BROAD OMO:0003005 [] synonym: "primary breast cancer" NARROW [DOID:1612] xref: DOID:1612 {source="MONDO:equivalentTo"} xref: ICD10CM:C50 {source="MONDO:equivalentTo", source="DOID:1612"} @@ -127991,6 +131058,7 @@ name: paragangliomas 4 def: "Any paraganglioma in which the cause of the disease is a mutation in the SDHB gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0010546"} synonym: "carotid body tumors and multiple extraadrenal Pheochromocytomas" RELATED [OMIM:115310] +synonym: "carotid body tumours and multiple extraadrenal Pheochromocytomas" RELATED OMO:0003005 [] synonym: "paraganglioma caused by mutation in SDHB" EXACT [MONDO:design_pattern] synonym: "paraganglioma, familial malignant" RELATED [OMIM:115310] synonym: "paragangliomas 4" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:115310] @@ -128505,6 +131573,7 @@ synonym: "muscular central core disease" RELATED [GARD:0006014] synonym: "myopathy, central core" RELATED [GARD:0006014] synonym: "myopathy, central fibrillar" RELATED [GARD:0006014] synonym: "neuromuscular disease, congenital, with uniform type 1 Fiber" RELATED [OMIM:117000] +synonym: "neuromuscular disease, congenital, with uniform type 1 Fibre" RELATED OMO:0003005 [] synonym: "Shy-Magee syndrome" RELATED [GARD:0006014] xref: DOID:3529 {source="MONDO:equivalentTo", source="EFO:1000855"} xref: EFO:1000855 {source="MONDO:equivalentTo"} @@ -129861,6 +132930,7 @@ property_value: confidence "7.125" xsd:double id: MONDO:0007354 name: coloboma of optic nerve subset: ordo_morphological_anomaly {source="Orphanet:98947"} +synonym: "coloboma of optic disc" RELATED OMO:0003005 [] synonym: "coloboma of optic disk" RELATED EXCLUDE [DOID:11975] synonym: "coloboma of optic nerve (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "coloboma of optic papilla" EXACT [Orphanet:98947] @@ -130000,6 +133070,7 @@ name: C1 inhibitor deficiency subset: ordo_disease {source="Orphanet:459353"} synonym: "complement component 4, partial deficiency OF" RELATED [OMIM:120790] synonym: "Quincke edema" RELATED EXCLUDE [DOID:0060002] +synonym: "Quincke oedema" RELATED OMO:0003005 [] xref: DOID:0060002 {source="MONDO:equivalentTo"} xref: ICD10CM:D84.1 {source="Orphanet:459353/inclusion", source="Orphanet:459353", source="Orphanet:459353/ntbt"} xref: OMIM:120790 {source="Orphanet:459353/e", source="MONDO:equivalentTo", source="Orphanet:459353"} @@ -130489,6 +133560,8 @@ id: MONDO:0007382 name: Ramos-Arroyo syndrome def: "Ramos-Arroyo syndrome (RAS) is a very rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease, short stature, and intellectual disability." [Orphanet:1051] subset: ordo_malformation_syndrome {source="Orphanet:1051"} +synonym: "congenital corneal anaesthesia with retinal abnormalities, deafness, unusual facies, persistent ductus arteriosus, and intellectual disability" RELATED OMO:0003005 [] +synonym: "congenital corneal anaesthesia with retinal abnormalities, deafness, unusual facies, persistent ductus arteriosus, and mental retardation" RELATED OMO:0003005 [] synonym: "congenital corneal anesthesia with retinal abnormalities, deafness, unusual facies, persistent ductus arteriosus, and intellectual disability" RELATED [GARD:0004636] synonym: "congenital corneal anesthesia with retinal abnormalities, deafness, unusual facies, persistent ductus arteriosus, and mental retardation" RELATED DEPRECATED [GARD:0004636] synonym: "corneal anesthesia-deafness-intellectual disability syndrome" EXACT [Orphanet:1051] @@ -130537,6 +133610,7 @@ name: congenital trigeminal anesthesia def: "Congenital trigeminal anesthesia is a rare neuro-ophtalmological disorder characterized by a congenital sensory deficit involving all or some of the sensory components of the trigeminal nerve. Due to corneal anesthesia, it usually presents with recurrent, painless eye infections, painless corneal opacities and/or poorly healing, ulcerated wounds on the facial skin and mucosa (typically the buccal mucosa and/or nasal septum)." [Orphanet:231013] subset: ordo_disease {source="Orphanet:231013"} synonym: "corneal hypesthesia, familial" RELATED [OMIM:122450] +synonym: "familial trigeminal anaesthesia" RELATED OMO:0003005 [] synonym: "familial trigeminal anesthesia" RELATED [GARD:0010034] synonym: "trigeminal anesthesia, familial" RELATED [OMIM:122450] xref: ICD10CM:G50.8 {source="Orphanet:231013/attributed", source="Orphanet:231013/ntbt", source="Orphanet:231013"} @@ -132788,6 +135862,7 @@ synonym: "DYT1" EXACT ABBREVIATION [Orphanet:256] synonym: "Dyt1" RELATED [MESH:C538005] synonym: "early onset primary dystonia" EXACT [NCIT:C116718] synonym: "early onset torsion dystonia" EXACT [GARD:0002027, MESH:C538005, NCIT:C116718] +synonym: "early-onset generalised torsion dystonia" EXACT OMO:0003005 [] synonym: "early-onset generalized limb-onset dystonia" EXACT [Orphanet:256] synonym: "early-onset generalized torsion dystonia" EXACT [MESH:C538005, Orphanet:256] synonym: "Early-onset Primary dystonia" RELATED [MESH:C538005] @@ -133463,7 +136538,9 @@ def: "A form of Ehlers-Danlos syndrome characterized by a premature aging with s subset: ordo_disease {source="Orphanet:75496"} synonym: "B4GALT7-CDG" EXACT [Orphanet:75496] synonym: "defective biosynthesis of proteodermatan sulfate" EXACT [DOID:0050802, Orphanet:75496] +synonym: "defective biosynthesis of proteodermatan sulphate" EXACT OMO:0003005 [] synonym: "dermatan sulfate proteoglycan" NARROW [OMIM:130070] +synonym: "dermatan sulphate proteoglycan" NARROW OMO:0003005 [] synonym: "EDS, progeroid type" EXACT [Orphanet:75496] synonym: "EDSSPD1" NARROW ABBREVIATION [OMIM:130070] synonym: "Ehlers-Danlos syndrome progeroid type" EXACT [Orphanet:75496] @@ -133974,10 +137051,12 @@ synonym: "Albopapuloid dominant dystrophic epidermolysis bullosa" RELATED [OMIM: synonym: "autosomal dominant dystrophic epidermolysis bullosa" RELATED [DOID:0080224] synonym: "autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types" EXACT [Orphanet:231568] synonym: "DDEB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:131750] +synonym: "DDEB, generalised" EXACT OMO:0003005 [] synonym: "DDEB, generalized" EXACT [Orphanet:231568] synonym: "DDEB, Pasini and Cockayne-Touraine types" EXACT [Orphanet:231568] synonym: "DDEB-gen" EXACT [Orphanet:231568] synonym: "dominant dystrophic epidermolysis bullosa" RELATED [GARD:0002139] +synonym: "dominant dystrophic epidermolysis bullosa, generalised" RELATED OMO:0003005 [] synonym: "dominant dystrophic epidermolysis bullosa, generalized" RELATED [GARD:0002139] synonym: "dystrophic epidermolysis bullosa, autosomal dominant" RELATED [OMIM:131750] synonym: "epidermolysis bullosa dystrophica with subcorneal cleavage" RELATED [OMIM:131750] @@ -134007,6 +137086,7 @@ def: "A basal subtype of epidermolysis bullosa simplex (EBS) characterized by th subset: gard_rare {source="GARD:0002141"} subset: ordo_disease {source="Orphanet:79396"} synonym: "Dowling-Meara type epidermolysis bullosa simplex" RELATED [GARD:0002141] +synonym: "EBS, generalised severe" EXACT OMO:0003005 [] synonym: "EBS, generalized severe" EXACT [Orphanet:79396] synonym: "EBS-DM" RELATED [GARD:0002141] synonym: "EBS-gen sev" EXACT [DOID:0060735] @@ -134016,8 +137096,10 @@ synonym: "epidermolysis bullosa herpetiformis, Dowling-Meara type" RELATED [OMIM synonym: "epidermolysis bullosa simplex 1A, generalized severe" EXACT [OMIM:131760, OMIM:genemap2] synonym: "epidermolysis bullosa simplex Dowling-Meara type" EXACT [OMIM:131760] synonym: "epidermolysis bullosa simplex, Dowling-Meara type" RELATED [MONDO:Lexical, OMIM:131760] +synonym: "epidermolysis bullosa simplex, generalised severe" RELATED OMO:0003005 [] synonym: "epidermolysis bullosa simplex, generalized severe" RELATED [OMIM:131760] synonym: "epidermolysis bullosa simplex, herpetiformis" EXACT [DOID:0060735, Orphanet:79396] +synonym: "generalised severe epidermolysis bullosa simplex" EXACT OMO:0003005 [] synonym: "generalized severe epidermolysis bullosa simplex" EXACT [DOID:0060735] xref: DOID:0060735 {source="MONDO:equivalentTo"} xref: ICD10CM:Q81.0 {source="Orphanet:79396/attributed", source="Orphanet:79396/ntbt", source="DOID:0060735", source="Orphanet:79396"} @@ -134043,8 +137125,10 @@ synonym: "EBS-loc" EXACT [Orphanet:79400] synonym: "epidermolysis bullosa of hands and feet" RELATED [OMIM:131800] synonym: "epidermolysis bullosa simplex 1C, localized" EXACT [OMIM:131800, OMIM:genemap2] synonym: "epidermolysis bullosa simplex of palms and soles" EXACT [Orphanet:79400] +synonym: "epidermolysis bullosa simplex, localised" RELATED OMO:0003005 [] synonym: "epidermolysis bullosa simplex, localized" RELATED [OMIM:131800] synonym: "epidermolysis bullosa simplex, Weber-Cockayne type" EXACT [OMIM:131800, Orphanet:79400] +synonym: "localised epidermolysis bullosa simplex" EXACT OMO:0003005 [] synonym: "localized epidermolysis bullosa simplex" EXACT [Orphanet:79400] synonym: "Weber-Cockayne syndrome" RELATED [GARD:0002146] synonym: "Weber-Cockayne type epidermolysis bullosa simplex" RELATED [GARD:0002146] @@ -134099,16 +137183,24 @@ id: MONDO:0007554 name: epidermolysis bullosa simplex 1B, generalized intermediate def: "Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Kobner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction." [Orphanet:79399] subset: ordo_disease {source="Orphanet:79399"} +synonym: "EBS, generalised" RELATED OMO:0003005 [] +synonym: "EBS, generalised intermediate" EXACT OMO:0003005 [] synonym: "EBS, generalized" RELATED [OMIM:131900] synonym: "EBS, generalized intermediate" EXACT [Orphanet:79399] synonym: "EBS-K" RELATED [GARD:0002147] synonym: "epidermolysis bullosa simplex 1B, generalized intermediate" EXACT [OMIM:131900, OMIM:genemap2] +synonym: "epidermolysis bullosa simplex, generalised" RELATED OMO:0003005 [] +synonym: "epidermolysis bullosa simplex, generalised intermediate" RELATED OMO:0003005 [] +synonym: "epidermolysis bullosa simplex, generalised non-Dowling-Meara" RELATED OMO:0003005 [] synonym: "epidermolysis bullosa simplex, generalized" RELATED [OMIM:131900] synonym: "epidermolysis bullosa simplex, generalized intermediate" RELATED [Orphanet:79399] synonym: "epidermolysis bullosa simplex, generalized non-Dowling-Meara" RELATED [GARD:0002147] synonym: "epidermolysis bullosa simplex, Kobner type" EXACT [Orphanet:79399] synonym: "epidermolysis bullosa simplex, Koebner type" EXACT [OMIM:131900, Orphanet:79399] synonym: "epidermolysis bullosa simplex, Köbner type" EXACT [Orphanet:79399] +synonym: "generalised EBS" RELATED OMO:0003005 [] +synonym: "generalised EBS, non-Dowling-Meara type" EXACT OMO:0003005 [] +synonym: "generalised epidermolysis bullosa simplex, non-Dowling-Meara type" EXACT OMO:0003005 [] synonym: "generalized EBS" RELATED [GARD:0002147] synonym: "generalized EBS, non-Dowling-Meara type" EXACT [Orphanet:79399] synonym: "generalized epidermolysis bullosa simplex, non-Dowling-Meara type" EXACT [Orphanet:79399] @@ -134355,6 +137447,9 @@ synonym: "cylindromatosis, familial" RELATED [OMIM:132700] synonym: "turban tumor" EXACT [NCIT:C43352] synonym: "turban tumor syndrome" EXACT [Orphanet:211] synonym: "turban tumors" RELATED [GARD:0009707] +synonym: "turban tumour" EXACT OMO:0003005 [] +synonym: "turban tumour syndrome" EXACT OMO:0003005 [] +synonym: "turban tumours" RELATED OMO:0003005 [] xref: MESH:C536611 {source="Orphanet:211/e", source="MONDO:equivalentTo", source="Orphanet:211"} xref: NCIT:C43352 {source="MONDO:equivalentTo"} xref: OMIM:132700 {source="Orphanet:211/e", source="MONDO:equivalentTo", source="Orphanet:211"} @@ -134380,6 +137475,7 @@ synonym: "ESS1, formerly" RELATED [OMIM:132800] synonym: "familial primary self-healing squamous epithelioma of the skin, Ferguson-Smith type" EXACT [Orphanet:65748] synonym: "Ferguson-Smith disease" EXACT [MONDO:cjm, Orphanet:65748] synonym: "Ferguson-Smith tumor" EXACT [MONDO:cjm, NCIT:C4461] +synonym: "Ferguson-Smith tumour" EXACT OMO:0003005 [] synonym: "Ferguson-Smith type epithelioma" RELATED [OMIM:132800] synonym: "Ferguson-Smith-type epithelioma" RELATED [OMIM:132800] synonym: "MSSE" EXACT ABBREVIATION [MONDO:Lexical, OMIM:132800, Orphanet:65748] @@ -134486,9 +137582,11 @@ synonym: "erythromelalgia, familial" RELATED [OMIM:133020] synonym: "erythromelalgia, primary" RELATED [OMIM:133020] synonym: "Mitchell disease (formerly)" RELATED DEPRECATED [GARD:0006377] synonym: "neuropathy, small fiber" RELATED [OMIM:133020] +synonym: "neuropathy, small fibre" RELATED OMO:0003005 [] synonym: "PERYTHM" EXACT ABBREVIATION [NCIT:C125383] synonym: "primary erythromelalgia" EXACT [NCIT:C125383] synonym: "small fiber neuropathy" RELATED [OMIM:133020, OMIM:genemap2] +synonym: "small fibre neuropathy" RELATED OMO:0003005 [] xref: ICD10CM:I73.8 {source="Orphanet:90026", source="Orphanet:90026/index", source="Orphanet:90026/ntbt"} xref: NCIT:C125383 {source="MONDO:equivalentTo"} xref: OMIM:133020 {source="MONDO:equivalentTo", source="Orphanet:90026", source="Orphanet:90026/e"} @@ -134556,6 +137654,7 @@ synonym: "acute erythroleukemia, familial" RELATED [] synonym: "Di Guglielmo disease, familial" RELATED [OMIM:133180] synonym: "ERYTHROLEUKEMIA, familial" RELATED [OMIM:133180] synonym: "erythroleukemia, familial, susceptibility to" EXACT [OMIM:133180, OMIM:genemap2] +synonym: "hereditary acute erythroid leukaemia" EXACT OMO:0003005 [] synonym: "hereditary acute erythroid leukemia" EXACT [MONDO:patterns/hereditary] synonym: "leukemia, acute myelogenous, M6" RELATED [OMIM:133180] xref: EFO:0000218 {source="MONDO:equivalentTo"} @@ -134615,8 +137714,11 @@ name: esophageal cancer def: "A primary or metastatic malignant neoplasm involving the esophagus." [NCIT:C7478] synonym: "Aerodigestive tract cancer, susceptibility to" RELATED [OMIM:133239] synonym: "Ca lower third esophagus" NARROW [DOID:5041] +synonym: "Ca lower third oesophagus" NARROW OMO:0003005 [] synonym: "Ca middle third esophagus" NARROW [DOID:5041] +synonym: "Ca middle third oesophagus" NARROW OMO:0003005 [] synonym: "cancer of esophagus" EXACT [MONDO:patterns/cancer] +synonym: "cancer of oesophagus" EXACT OMO:0003005 [] synonym: "Escc, susceptibility to" RELATED [OMIM:133239] synonym: "esophageal cancer" EXACT [OMIM:133239] synonym: "esophageal cancer, somatic" EXACT [OMIM:133239, OMIM:genemap2] @@ -134627,21 +137729,38 @@ synonym: "esophagus cancer" EXACT [DOID:5041, MONDO:patterns/location] synonym: "gastric cardia adenocarcinoma, susceptibility to" RELATED [OMIM:133239] synonym: "malignant esophageal neoplasm" EXACT [NCIT:C7478] synonym: "malignant esophageal tumor" EXACT [NCIT:C7478] +synonym: "malignant esophageal tumour" EXACT OMO:0003005 [] synonym: "malignant esophagus neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant esophagus tumor" EXACT [NCIT:C7478] synonym: "malignant neoplasm of distal third of esophagus" NARROW [DOID:5041] +synonym: "malignant neoplasm of distal third of oesophagus" NARROW OMO:0003005 [] synonym: "malignant neoplasm of esophagus" EXACT [MONDO:patterns/cancer, NCIT:C7478] synonym: "malignant neoplasm of lower third of esophagus" NARROW [DOID:5041] +synonym: "malignant neoplasm of lower third of oesophagus" NARROW OMO:0003005 [] synonym: "malignant neoplasm of middle third of esophagus" NARROW [DOID:5041] +synonym: "malignant neoplasm of middle third of oesophagus" NARROW OMO:0003005 [] +synonym: "malignant neoplasm of oesophagus" EXACT OMO:0003005 [] synonym: "malignant neoplasm of proximal third of esophagus" NARROW [DOID:5041] +synonym: "malignant neoplasm of proximal third of oesophagus" NARROW OMO:0003005 [] synonym: "malignant neoplasm of the esophagus" EXACT [NCIT:C7478] +synonym: "malignant neoplasm of the oesophagus" EXACT OMO:0003005 [] synonym: "malignant neoplasm of upper third esophagus" NARROW [DOID:5041] +synonym: "malignant neoplasm of upper third oesophagus" NARROW OMO:0003005 [] +synonym: "malignant oesophagus neoplasm" EXACT OMO:0003005 [] +synonym: "malignant oesophagus tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of abdominal esophagus" NARROW [DOID:5041, NCIT:C4764] synonym: "malignant tumor of distal third of esophagus" NARROW [DOID:5041, NCIT:C3535] synonym: "malignant tumor of esophagus" EXACT [NCIT:C7478] synonym: "malignant tumor of proximal third of esophagus" NARROW [DOID:5041, NCIT:C3533] synonym: "malignant tumor of the esophagus" EXACT [NCIT:C7478] synonym: "malignant tumor of the middle third of the esophagus" NARROW [DOID:5041, NCIT:C3534] +synonym: "malignant tumour of abdominal oesophagus" NARROW OMO:0003005 [] +synonym: "malignant tumour of distal third of oesophagus" NARROW OMO:0003005 [] +synonym: "malignant tumour of oesophagus" EXACT OMO:0003005 [] +synonym: "malignant tumour of proximal third of oesophagus" NARROW OMO:0003005 [] +synonym: "malignant tumour of the middle third of the oesophagus" NARROW OMO:0003005 [] +synonym: "malignant tumour of the oesophagus" EXACT OMO:0003005 [] +synonym: "oesophagus cancer" EXACT OMO:0003005 [] xref: DOID:5041 {source="MONDO:equivalentTo"} xref: ICD10CM:C15.3 {source="DOID:5041"} xref: ICD10CM:C15.4 {source="DOID:5041"} @@ -135221,6 +138340,7 @@ def: "A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor assoc synonym: "aggressive fibromatosis" EXACT [NCIT:C9182, Orphanet:873] synonym: "deep fibromatosis" EXACT [NCIT:C9182] synonym: "deep fibromatosis/desmoid tumor" EXACT [NCIT:C9182] +synonym: "deep fibromatosis/desmoid tumour" EXACT OMO:0003005 [] synonym: "desmoid disease, hereditary" RELATED [OMIM:135290] synonym: "desmoid disorder, hereditary" RELATED [GARD:0001820] synonym: "desmoid fibromatosis" EXACT [NCIT:C9182] @@ -135287,6 +138407,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:2026"} synonym: "CGHT" EXACT ABBREVIATION [Orphanet:2026] synonym: "chromosome 17Q24.2-q24.3 deletion syndrome" RELATED [OMIM:135400] synonym: "chromosome 17Q24.2-q24.3 Duplication syndrome" RELATED [OMIM:135400] +synonym: "congenital generalised hypertrichosis terminalis" EXACT OMO:0003005 [] synonym: "congenital generalized hypertrichosis terminalis" EXACT [Orphanet:2026] synonym: "extreme hirsutism with gingival fibromatosis" RELATED [GARD:0002324] synonym: "fibromatosis, gingival, with hypertrichosis" RELATED [OMIM:135400] @@ -136484,6 +139605,7 @@ synonym: "subependymoma" EXACT [MONDO:0006985, NCIT:C3795] synonym: "SUBEPENDYMOMA, benign" EXACT [NCIT:C3795] synonym: "WHO grade I ependymal neoplasm" EXACT [NCIT:C3795] synonym: "WHO grade I ependymal tumor" EXACT [DOID:4843, NCIT:C3795] +synonym: "WHO grade I ependymal tumour" EXACT OMO:0003005 [] xref: DOID:4843 {source="EFO:1001197", source="MONDO:equivalentTo"} xref: EFO:1000553 {source="MONDO:equivalentTo"} xref: EFO:1001197 {source="MONDO:equivalentTo"} @@ -136612,6 +139734,7 @@ synonym: "GVM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:138000] synonym: "hereditary glomangioma" EXACT [MONDO:patterns/hereditary, NCIT:C5350] synonym: "hereditary multiple glomangiomas" EXACT [Orphanet:83454] synonym: "multiple glomus tumors" EXACT [Orphanet:83454] +synonym: "multiple glomus tumours" EXACT OMO:0003005 [] synonym: "Venous malformations with glomus cells" EXACT [OMIM:138000, Orphanet:83454] synonym: "VMGLOM" EXACT ABBREVIATION [Orphanet:83454] xref: DOID:7996 {source="MONDO:equivalentTo"} @@ -136728,6 +139851,7 @@ synonym: "MNG/CRD/Da" RELATED [OMIM:138790] synonym: "multinodular goiter - cystic kidney - polydactyly" RELATED [GARD:0001671] synonym: "multinodular goiter, cystic renal disease, and digital anomalies" RELATED [GARD:0001671] synonym: "multinodular goiter/cystic renal disease/digital anomalies" RELATED [OMIM:138790] +synonym: "multinodular goitre - cystic kidney - polydactyly" RELATED OMO:0003005 [] synonym: "thyroid-renal-digital anomalies" EXACT [Orphanet:2091] xref: ICD10CM:Q87.8 {source="Orphanet:2091", source="Orphanet:2091/attributed", source="Orphanet:2091/ntbt"} xref: MESH:C535986 {source="MONDO:equivalentTo"} @@ -136746,6 +139870,7 @@ name: goiter, multinodular 1, with or without Sertoli-Leydig cell tumors def: "Any multinodular goiter in which the cause of the disease is a mutation in the DICER1 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:276399"} synonym: "euthyroid goiter" BROAD [OMIM:138800] +synonym: "euthyroid goitre" BROAD OMO:0003005 [] synonym: "familial MNG" EXACT [Orphanet:276399] synonym: "FMNG" EXACT ABBREVIATION [Orphanet:276399] synonym: "goiter, multinodular 1, with or without Sertoli-Leydig cell tumors" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:138800] @@ -136753,6 +139878,7 @@ synonym: "goiter, nontoxic, with Intrathyroidal calcification" EXACT [OMIM:13880 synonym: "MNG1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:138800] synonym: "multinodular goiter, adolescent" EXACT [OMIM:138800] synonym: "simple goiter" BROAD [OMIM:138800] +synonym: "simple goitre" BROAD OMO:0003005 [] xref: ICD10CM:E04.2 {source="Orphanet:276399/attributed", source="Orphanet:276399/ntbt", source="Orphanet:276399"} xref: ICD9:240.0 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:C562732 {source="MONDO:equivalentTo"} @@ -136831,8 +139957,7 @@ synonym: "Alpha storage pool deficiency" EXACT [Orphanet:721] synonym: "BDPLT4" EXACT ABBREVIATION [DOID:0111044] synonym: "bleeding disorder, Platelet-type, 4" RELATED [OMIM:139090] synonym: "GPS" EXACT ABBREVIATION [DOID:0111044, MONDO:Lexical, OMIM:139090, Orphanet:721] -synonym: "gray platelet syndrome" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:139090] -synonym: "gray platelet syndrome" EXACT [NCIT:C84741] +synonym: "gray platelet syndrome" EXACT CLINGEN_PREFERRED [MONDO:Lexical, NCIT:C84741, OMIM:139090] synonym: "marked decrease or absence of alpha-granules and of platelet-specific alpha-granule proteins" RELATED [GARD:0002562] synonym: "platelet alpha-granule deficiency" EXACT [DOID:0111044, Orphanet:721] synonym: "platelet-type bleeding disorder 4" EXACT [DOID:0111044] @@ -137467,9 +140592,13 @@ synonym: "ATR syndrome, deletion type" EXACT [DOID:0110029, Orphanet:98791] synonym: "ATR, deletion-type" RELATED [OMIM:141750] synonym: "ATR-16 syndrome" EXACT [DOID:0110029, OMIM:141750, Orphanet:98791] synonym: "chromosome 16P deletion syndrome" RELATED [OMIM:141750] +synonym: "Haemoglobin H-related intellectual disability" RELATED OMO:0003005 [] +synonym: "Haemoglobin H-related mental retardation" RELATED OMO:0003005 [] synonym: "Hemoglobin H-related intellectual disability" RELATED [OMIM:141750] synonym: "Hemoglobin H-related mental retardation" RELATED DEPRECATED [OMIM:141750] +synonym: "intellectual disability with Haemoglobin H" RELATED OMO:0003005 [] synonym: "intellectual disability with Hemoglobin H" RELATED [OMIM:141750] +synonym: "mental retardation with Haemoglobin H" RELATED OMO:0003005 [] synonym: "mental retardation with Hemoglobin H" RELATED DEPRECATED [OMIM:141750] xref: DECIPHER:65 {source="MONDO:equivalentTo"} xref: DOID:0110029 {source="MONDO:equivalentTo"} @@ -137690,6 +140819,9 @@ synonym: "TRAPS syndrome" EXACT [Orphanet:32960] synonym: "tumor necrosis factor receptor 1 associated periodic syndrome" EXACT [DOID:0090018] synonym: "tumor necrosis factor receptor 1-associated periodic syndrome" EXACT [NCIT:C119051] synonym: "tumor necrosis factor receptor-associated periodic syndrome" RELATED [OMIM:142680] +synonym: "tumour necrosis factor receptor 1 associated periodic syndrome" EXACT OMO:0003005 [] +synonym: "tumour necrosis factor receptor 1-associated periodic syndrome" EXACT OMO:0003005 [] +synonym: "tumour necrosis factor receptor-associated periodic syndrome" RELATED OMO:0003005 [] xref: DOID:0090018 {source="MONDO:equivalentTo"} xref: ICD10CM:E85.0 {source="Orphanet:32960", source="Orphanet:32960/attributed", source="Orphanet:32960/ntbt", source="DOID:0090018"} xref: MESH:C536657 {source="MONDO:equivalentTo"} @@ -138335,7 +141467,9 @@ synonym: "epidermolytic palmoplantar keratoderma of VC6rner" EXACT [Orphanet:219 synonym: "epidermolytic palmoplantar keratoderma of Voerner" EXACT [GARD:0002826, Orphanet:2199] synonym: "epidermolytic palmoplantar keratoderma of Vörner" RELATED [GARD:0002826] synonym: "EPPK" EXACT ABBREVIATION [GARD:0002826, MONDO:Lexical, OMIM:144200, Orphanet:2199] +synonym: "hyperkeratosis palmoplantar localised epidermolytic" RELATED OMO:0003005 [] synonym: "hyperkeratosis palmoplantar localized epidermolytic" RELATED [GARD:0002826] +synonym: "hyperkeratosis, localised epidermolytic" RELATED OMO:0003005 [] synonym: "hyperkeratosis, localized epidermolytic" RELATED [OMIM:144200] synonym: "keratoderma, epidermolytic palmoplantar" RELATED [OMIM:144200] synonym: "keratosis of Greither" RELATED [OMIM:144200] @@ -138621,6 +141755,7 @@ subset: gard_rare {source="GARD:0010829"} subset: ordo_disease {source="Orphanet:99880"} synonym: "familial primary hyperparathyroidism with multiple ossifying jaw fibromas" RELATED [GARD:0010829] synonym: "hereditary hyperparathyroidism-jaw tumor syndrome" RELATED [GARD:0010829] +synonym: "hereditary hyperparathyroidism-jaw tumour syndrome" RELATED OMO:0003005 [] synonym: "HPT-JT" EXACT [NCIT:C48287, Orphanet:99880] synonym: "HRPT2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:145001] synonym: "hyperparathyroidism 2" RELATED [GARD:0010829, MONDO:Lexical, OMIM:145001] @@ -138630,6 +141765,8 @@ synonym: "hyperparathyroidism, familial primary, with multiple ossifying jaw fib synonym: "hyperparathyroidism-2" EXACT [NCIT:C48287] synonym: "hyperparathyroidism-jaw tumor syndrome" EXACT [NCIT:C48287] synonym: "hyperparathyroidism-jaw tumor syndrome, hereditary" RELATED [OMIM:145001] +synonym: "hyperparathyroidism-jaw tumour syndrome" EXACT OMO:0003005 [] +synonym: "hyperparathyroidism-jaw tumour syndrome, hereditary" RELATED OMO:0003005 [] synonym: "parathyroid adenoma with cystic changes" EXACT [OMIM:145001, OMIM:genemap2] synonym: "parathyroid adenomatosis, familial cystic" RELATED [OMIM:145001] xref: ICD10CM:E21.0 {source="Orphanet:99880/attributed", source="Orphanet:99880/ntbt", source="Orphanet:99880"} @@ -138891,10 +142028,12 @@ subset: gard_rare subset: predisposition synonym: "hyperpyrexia, malignant" RELATED [GARD:0003363, OMIM:145600] synonym: "hyperpyrexia, malignant;MH KING syndrome, included" RELATED [MESH:C535694] +synonym: "hyperthermia of anaesthesia" RELATED OMO:0003005 [] synonym: "hyperthermia of anesthesia" RELATED [GARD:0003363, MESH:C535694, OMIM:145600] synonym: "King syndrome" RELATED [OMIM:145600] synonym: "King-Denborough syndrome" RELATED [OMIM:145600] synonym: "King-Denborough syndrome, included" RELATED [MESH:C535694] +synonym: "malignant hyperthermia of anaesthesia caused by mutation in RYR1" EXACT OMO:0003005 [] synonym: "malignant hyperthermia of anesthesia caused by mutation in RYR1" EXACT [MONDO:design_pattern] synonym: "malignant hyperthermia susceptibility 1" EXACT [OMIM:145600, OMIM:genemap2] synonym: "malignant hyperthermia susceptibility type 1" RELATED [GARD:0003363] @@ -138902,6 +142041,7 @@ synonym: "malignant hyperthermia, susceptibility to, 1" EXACT CLINGEN_PREFERRED synonym: "malignant hyperthermia, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:145600] synonym: "MHS" RELATED ABBREVIATION [GARD:0003363, MESH:C535694, OMIM:145600] synonym: "MHS1" RELATED ABBREVIATION [GARD:0003363, MESH:C535694, MONDO:Lexical, OMIM:145600] +synonym: "RYR1 malignant hyperthermia of anaesthesia" EXACT OMO:0003005 [] synonym: "RYR1 malignant hyperthermia of anesthesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "susceptibility to malignant hyperthermia 1" RELATED [OMIM:145600] xref: DOID:0080990 {source="MONDO:equivalentTo"} @@ -138974,11 +142114,13 @@ name: Ambras type hypertrichosis universalis congenita def: "Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth." [Orphanet:1023] subset: ordo_clinical_subtype {source="Orphanet:1023"} synonym: "Ambras syndrome" EXACT [DOID:0111060, OMIM:145701, Orphanet:1023] +synonym: "congenital generalised hypertrichosis, Ambras type" RELATED OMO:0003005 [] synonym: "congenital generalized hypertrichosis, Ambras type" RELATED [Orphanet:1023] synonym: "HTC 1" RELATED [GARD:0008206] synonym: "HTC1" EXACT ABBREVIATION [DOID:0111060, MONDO:Lexical, OMIM:145701] synonym: "hypertrichosis universalis congenita Ambras type" RELATED [GARD:0008206] synonym: "hypertrichosis universalis congenita, Ambras type" RELATED [MONDO:Lexical, OMIM:145701] +synonym: "hypertrichosis, congenital generalised" RELATED OMO:0003005 [] synonym: "hypertrichosis, congenital generalized" RELATED [OMIM:145701] xref: DOID:0111060 {source="MONDO:equivalentTo"} xref: ICD10CM:Q84.2 {source="Orphanet:1023/attributed", source="Orphanet:1023/ntbt", source="Orphanet:1023", source="DOID:0111060"} @@ -141294,6 +144436,7 @@ synonym: "familial lentigines profusa" EXACT [Orphanet:231040] synonym: "familial multiple lentigines syndrome without systemic involvement" EXACT [Orphanet:231040] synonym: "lentiginosis profusa" RELATED [OMIM:151001] synonym: "lentiginosis, diffuse" RELATED [OMIM:151001] +synonym: "lentiginosis, generalised" RELATED OMO:0003005 [] synonym: "lentiginosis, generalized" RELATED [OMIM:151001] synonym: "lentiginosis, inherited patterned" RELATED [OMIM:151001] xref: ICD10CM:L81.4 {source="Orphanet:231040/attributed", source="Orphanet:231040/ntbt", source="Orphanet:231040"} @@ -141348,6 +144491,7 @@ synonym: "Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome" EXACT [DOID:1429 synonym: "cardiocutaneous syndrome" RELATED EXCLUDE [DOID:14291] synonym: "Cardiomyopathic lentiginosis" EXACT [Orphanet:500] synonym: "familial multiple lentigines syndrome" EXACT [Orphanet:500] +synonym: "generalised lentiginosis" EXACT OMO:0003005 [] synonym: "generalized lentiginosis" EXACT [DOID:14291] synonym: "Gorlin syndrome II" EXACT [DOID:14291] synonym: "lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, Deafnes" RELATED [GARD:0001100] @@ -141446,9 +144590,15 @@ name: acute monocytic leukemia def: "Acute monoblastic leukemia (AML-M5), is one of the most common subtypes of acute myeloid leukemia (AML) that is either comprised of more than 80% of monoblasts (AML-M5a) or 30-80% monoblasts with (pro)monocytic differentiation (AML-M5b). AML-M5 presents with asthenia, pallor, fever, and dizziness. Specific features of AML-M5 include hyperleukocytosis, propensity for extramedullary infiltrates, coagulation abnormalities including disseminated intravascular coagulation and neurological disorders. Leukemia cutis and gingival infiltration can also be seen. A characteristic translocation observed in AML-M5 is t(9;11)." [Orphanet:514] subset: gard_rare subset: ordo_disease {source="Orphanet:514"} +synonym: "acute monoblastic leukaemia" RELATED OMO:0003005 [] +synonym: "acute monoblastic leukaemia and acute monocytic leukaemia" EXACT OMO:0003005 [] synonym: "acute monoblastic leukemia" RELATED [GARD:0000525] synonym: "acute monoblastic leukemia and acute monocytic leukemia" EXACT [DOID:8864, NCIT:C7318] +synonym: "acute monoblastic/monocytic leukaemia" RELATED OMO:0003005 [] synonym: "acute monoblastic/monocytic leukemia" RELATED [ONCOTREE:AMOL] +synonym: "acute monocytic leukaemia (FAB M5B)" EXACT OMO:0003005 [] +synonym: "acute monocytic leukaemia (FAB M5b)" EXACT OMO:0003005 [] +synonym: "acute monocytic leukaemia without mention of remission" EXACT OMO:0003005 [] synonym: "acute monocytic leukemia" EXACT [GARD:0000525, NCIT:C4861, Orphanet:514] synonym: "acute monocytic leukemia (FAB M5B)" EXACT [NCIT:C4861] synonym: "acute monocytic leukemia (FAB M5b)" EXACT [NCIT:C4861] @@ -141456,11 +144606,13 @@ synonym: "acute monocytic leukemia without mention of remission" EXACT [DOID:886 synonym: "acute monocytic leukemia, FAB M5" EXACT [DOID:8864] synonym: "acute monocytic leukemia, morphology" EXACT [DOID:8864] synonym: "acute monocytic leukemia, morphology (morphologic abnormality)" EXACT [DOID:8864] +synonym: "acute myeloblastic leukaemia type 5" RELATED OMO:0003005 [] synonym: "acute myeloblastic leukemia type 5" RELATED [GARD:0000525] synonym: "AML M5" EXACT [GARD:0000525, Orphanet:514] synonym: "AML-M5" RELATED [GARD:0000525] synonym: "leukemia, acute monocytic" RELATED [OMIM:151380] synonym: "leukemia, monocytic, malignant" EXACT [NCIT:C4861] +synonym: "monocytic leukaemia" BROAD OMO:0003005 [] synonym: "monocytic leukemia" BROAD [NCIT:C4861] synonym: "monocytic leukemia, acute" EXACT [MONDO:patterns/acute] xref: CSP:2004-2820 {source="DOID:8864"} @@ -142095,6 +145247,7 @@ synonym: "5Q minus syndrome" EXACT [NCIT:C6867] synonym: "5q syndrome" RELATED [GARD:0008723] synonym: "5Q- syndrome" EXACT [NCIT:C6867, OMIM:153550] synonym: "5q- syndrome" EXACT [NCIT:C6867, Orphanet:86841] +synonym: "5q- syndrome, refractory macrocytic anaemia due to 5q deletion" EXACT OMO:0003005 [] synonym: "5q- syndrome, refractory macrocytic anemia due to 5q deletion" EXACT [DOID:0090016] synonym: "chromosome 5q deletion syndrome" EXACT [OMIM:153550] synonym: "macrocytic Anemia, refractory, due to 5Q deletion" RELATED [OMIM:153550] @@ -142105,6 +145258,7 @@ synonym: "myelodysplastic syndrome associated with isolated del (5q) chromosome synonym: "myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality" EXACT [DOID:0090016] synonym: "myelodysplastic syndrome with 5q deletion" EXACT [NCIT:C6867] synonym: "myelodysplastic syndrome with isolated del(5q)" EXACT [NCIT:C6867] +synonym: "refractory macrocytic anaemia due to 5q deletion" RELATED OMO:0003005 [] synonym: "refractory macrocytic anemia due to 5q deletion" RELATED [GARD:0008723] xref: DOID:0090016 {source="MONDO:equivalentTo"} xref: ICDO:9986/3 {source="NCIT:C6867"} @@ -142288,9 +145442,11 @@ name: cystoid macular edema def: "An autosomal dominantly inherited cystoid macular edema manifesting with macular atrophy, strabismus and, sometimes, pericentral retinitis pigmentosa. It is associated with a poor visual prognosis." [Orphanet:75381] subset: ordo_disease {source="Orphanet:75381"} synonym: "autosomal dominant cystoid macular edema" EXACT [Orphanet:75381] +synonym: "autosomal dominant cystoid macular oedema" EXACT OMO:0003005 [] synonym: "cystoid macular dystrophy" RELATED [OMIM:153880] synonym: "DCMD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:153880, Orphanet:75381] synonym: "familial macular edema" EXACT [Orphanet:75381] +synonym: "familial macular oedema" EXACT OMO:0003005 [] synonym: "macular dystrophy, dominant cystoid" RELATED [MONDO:Lexical, OMIM:153880] synonym: "macular edema, cystoid" RELATED [OMIM:153880] synonym: "Mddc" RELATED [OMIM:153880] @@ -142823,6 +145979,8 @@ synonym: "cerebellum embryonal neoplasm" EXACT [MONDO:patterns/location] synonym: "CNS PNET" RELATED [DOID:0050902, NCIT:C5398] synonym: "CPNET" RELATED ABBREVIATION [DOID:0050902] synonym: "infratentorial primitive neuroectodermal tumor" RELATED [DOID:0050902] +synonym: "infratentorial primitive neuroectodermal tumour" RELATED OMO:0003005 [] +synonym: "localised primitive neuroectodermal tumour" RELATED OMO:0003005 [] synonym: "localized primitive neuroectodermal tumor" RELATED [DOID:0050902] synonym: "MDB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:155255] synonym: "medulloblastoma" EXACT CLINGEN_PREFERRED [MONDO:Lexical, NCIT:C3222, OMIM:155255] @@ -143018,6 +146176,7 @@ property_value: confidence "1.6325000000000003" xsd:double id: MONDO:0007968 name: melanoma tumor antigen Gp90 synonym: "Class 1 unique tumor antigen of melanoma" RELATED [OMIM:155770] +synonym: "Class 1 unique tumour antigen of melanoma" RELATED OMO:0003005 [] synonym: "melanoma tumor antigen Gp90" EXACT [OMIM:155770] xref: OMIM:155770 {source="MONDO:equivalentTo"} xref: UMLS:C1835040 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:155770"} @@ -143478,6 +146637,7 @@ synonym: "CSCSC" EXACT ABBREVIATION [MONDO:cjm] synonym: "Kunze Riehm syndrome" RELATED [GARD:0003589] synonym: "Kunze-Riehm syndrome" EXACT [Orphanet:2505] synonym: "Michelin tire baby syndrome" RELATED [OMIM:156610] +synonym: "Michelin tyre baby syndrome" RELATED OMO:0003005 [] synonym: "skin creases, multiple benign ring-shaped, of limbs" RELATED [OMIM:156610] xref: DOID:0112241 {source="MONDO:equivalentTo"} xref: ICD10CM:Q82.8 {source="Orphanet:2505/attributed", source="Orphanet:2505/ntbt", source="Orphanet:2505"} @@ -144436,6 +147596,7 @@ synonym: "ham/TSP" EXACT [Orphanet:289326] synonym: "HTLV-1 associated myelopathy/tropical spastic paraparesis" RELATED [GARD:0008208] synonym: "HTLV-1-associated myelopathy/tropical spastic paraparesis" EXACT [Orphanet:289326] synonym: "HTLV-associated myelopathy" EXACT [DOID:321] +synonym: "Human T-cell leukaemia virus type 1 associated myelopathy/tropical spastic paraparesis" RELATED OMO:0003005 [] synonym: "Human T-cell leukemia virus type 1 associated myelopathy/tropical spastic paraparesis" RELATED [GARD:0008208] synonym: "Human T-lymphotropic virus type I-associated myelopathy/tropical spastic paraparesis" EXACT [Orphanet:289326] synonym: "Human T-lymphotropic virus type-1-associated myelopathy/tropical spastic paraparesis" EXACT [Orphanet:289326] @@ -144478,6 +147639,7 @@ synonym: "TAM" EXACT ABBREVIATION [DOID:0060888] synonym: "TMD" EXACT ABBREVIATION [Orphanet:420611] synonym: "transient abnormal myelopoiesis" EXACT [DOID:0060888, OMIM:159595, Orphanet:420611] synonym: "Transient abnormal myelopoiesis associated with Down syndrome" EXACT [NCIT:C82339] +synonym: "transient leukaemia" EXACT OMO:0003005 [] synonym: "transient leukemia" EXACT [DOID:0060888] synonym: "transient leurkemia of Down syndrome" EXACT [DOID:0060888] synonym: "transient myeloproliferative disease" EXACT [DOID:0060888, Orphanet:420611] @@ -144618,6 +147780,8 @@ synonym: "acetazolamide-responsive periodic ataxia" EXACT [https://www.ncbi.nlm. synonym: "ataxia, episodic, with myokymia" RELATED [OMIM:160120] synonym: "continuous muscle fiber activity" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK25442/] synonym: "continuous muscle fiber activity, hereditary" RELATED [OMIM:160120] +synonym: "continuous muscle fibre activity" EXACT OMO:0003005 [] +synonym: "continuous muscle fibre activity, hereditary" RELATED OMO:0003005 [] synonym: "EA1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:160120] synonym: "episodic ataxia with myokymia" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK25442/, OMIM:160120, Orphanet:37612] synonym: "episodic ataxia, type 1" RELATED [MONDO:Lexical, OMIM:160120] @@ -145470,6 +148634,7 @@ synonym: "multiple endocrine neoplasia, type IIB" RELATED [MONDO:Lexical, OMIM:1 synonym: "multiple endocrine neoplasia, type III" EXACT [NCIT:C3227, OMIM:162300] synonym: "multiple endocrine neoplasia, type III, formerly" RELATED [OMIM:162300] synonym: "Neuromata, mucosal, with endocrine tumors" RELATED [OMIM:162300] +synonym: "Neuromata, mucosal, with endocrine tumours" RELATED OMO:0003005 [] synonym: "Wagenmann-Froboese syndrome" EXACT [DOID:10016, OMIM:162300, Orphanet:247709] xref: DOID:10016 {source="MONDO:equivalentTo"} xref: ICD10CM:D44.8 {source="Orphanet:247709/attributed", source="Orphanet:247709/ntbt", source="Orphanet:247709"} @@ -145718,10 +148883,12 @@ def: "A benign, pigmented skin growth caused by an overgrowth of the epidermis. synonym: "Epidermal Nevus" EXACT [NCIT:C4088] synonym: "epidermal nevus, somatic" EXACT [OMIM:162900, OMIM:genemap2] synonym: "Nevus sebaceous" RELATED [OMIM:162900] +synonym: "nevus sebaceous or woolly hair nevus, somatic" EXACT OMO:0003005 [] synonym: "nevus sebaceous or wooly hair nevus, somatic" EXACT [OMIM:162900, OMIM:genemap2] synonym: "nevus, epidermal" EXACT [OMIM:162900] synonym: "nevus, epidermal, somatic" EXACT [OMIM:162900, OMIM:genemap2] synonym: "Nevus, Keratinocytic, nonepidermolytic" RELATED [OMIM:162900] +synonym: "Nevus, woolly hair" RELATED OMO:0003005 [] synonym: "Nevus, wooly hair" RELATED [OMIM:162900] synonym: "nonepidermolytic keratinocytic nevus" EXACT [DOID:0111162] xref: DOID:0111162 {source="MONDO:equivalentTo"} @@ -146195,6 +149362,8 @@ subset: ordo_clinical_subtype {source="Orphanet:391641"} synonym: "Brunner-Winter syndrome type 1" EXACT [Orphanet:391641] synonym: "digital anomalies with short palpebral fissures and atresia of esophagus or duodenum" RELATED [OMIM:164280] synonym: "digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1" EXACT [Orphanet:391641] +synonym: "digital anomalies with short palpebral fissures and atresia of oesophagus or duodenum" RELATED OMO:0003005 [] +synonym: "digital anomalies with short palpebral fissures and atresia of oesophagus or duodenum type 1" EXACT OMO:0003005 [] synonym: "Feingold syndrome" RELATED [OMIM:164280] synonym: "Feingold syndrome 1" RELATED [MONDO:Lexical, OMIM:164280] synonym: "Feingold syndrome caused by mutation in MYCN" EXACT [MONDO:design_pattern] @@ -146647,6 +149816,7 @@ name: OSLAM syndrome def: "OSLAM syndrome is characterized by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangy, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anemia." [Orphanet:2760] subset: ordo_malformation_syndrome {source="Orphanet:2760"} synonym: "OSLAM syndrome" EXACT [OMIM:165660] +synonym: "osteosarcoma, limb anomalies (clinodactyly, absence of digital ray in foot, bilateral radioulnar synostosis) and macrocytosis without anaemia" RELATED OMO:0003005 [] synonym: "osteosarcoma, limb anomalies (clinodactyly, absence of digital ray in foot, bilateral radioulnar synostosis) and macrocytosis without anemia" RELATED [GARD:0004129] synonym: "osteosarcoma, limb anomalies, and erythroid macrocytosis with megaloblastic marrow" RELATED [OMIM:165660] synonym: "osteosarcoma, limb anomalies, and macrocytosis" RELATED [OMIM:165660] @@ -147334,20 +150504,24 @@ synonym: "malignant neoplasm of ovary" EXACT [MONDO:patterns/cancer, NCIT:C7431] synonym: "malignant neoplasm of the ovary" EXACT [NCIT:C7431] synonym: "malignant ovarian neoplasm" EXACT [NCIT:C7431] synonym: "malignant ovarian tumor" EXACT [DOID:2394, NCIT:C7431] +synonym: "malignant ovarian tumour" EXACT OMO:0003005 [] synonym: "malignant ovary neoplasm" EXACT [MONDO:patterns/cancer] -synonym: "malignant tumor of ovary" EXACT [NCIT:C7431] -synonym: "malignant tumor of ovary" EXACT [DOID:2394] +synonym: "malignant tumor of ovary" EXACT [DOID:2394, NCIT:C7431] synonym: "malignant tumor of the ovary" EXACT [NCIT:C7431] +synonym: "malignant tumour of ovary" EXACT OMO:0003005 [] +synonym: "malignant tumour of the ovary" EXACT OMO:0003005 [] synonym: "ovarian cancer" EXACT [NCIT:C7431, OMIM:167000] synonym: "ovarian cancer, epithelial" RELATED [OMIM:167000] synonym: "ovarian cancer, NOS" RELATED EXCLUDE [NCIT:C7431] synonym: "ovarian cancer, somatic" EXACT [OMIM:167000, OMIM:genemap2] synonym: "ovarian malignant tumor" EXACT [Orphanet:213500] +synonym: "ovarian malignant tumour" EXACT OMO:0003005 [] synonym: "ovarian neoplasm" BROAD [DOID:2394, MTH:NOCODE] synonym: "ovary cancer" EXACT [MONDO:patterns/location] synonym: "ovary neoplasm" BROAD [DOID:2394] synonym: "primary ovarian cancer" RELATED [DOID:2394] synonym: "tumor of the ovary" BROAD [DOID:2394, NCIT:C4984] +synonym: "tumour of the ovary" BROAD OMO:0003005 [] xref: DOID:2394 {source="MONDO:equivalentTo"} xref: ICD10CM:C56 {source="DOID:2394"} xref: ICD9:183.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:2394"} @@ -147792,8 +150966,10 @@ id: MONDO:0008192 name: paragangliomas 1 def: "Any paraganglioma in which the cause of the disease is a mutation in the SDHD gene." [MONDO:patterns/disease_series_by_gene] synonym: "carotid body tumors" RELATED [OMIM:168000] +synonym: "carotid body tumours" RELATED OMO:0003005 [] synonym: "chemodectomas" RELATED [OMIM:168000] synonym: "glomus jugulare tumors" RELATED [OMIM:168000] +synonym: "glomus jugulare tumours" RELATED OMO:0003005 [] synonym: "glomus tumors, familial, 1" RELATED [OMIM:168000] synonym: "paraganglioma caused by mutation in SDHD" EXACT [MONDO:design_pattern] synonym: "paraganglioma, carotid body" RELATED [OMIM:168000] @@ -148578,15 +151754,23 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2015/dysosto id: MONDO:0008228 name: pernicious anemia def: "Megaloblastic anemia caused by vitamin B-12 deficiency due to impaired absorption. The impaired absorption of vitamin B-12 is secondary to atrophic gastritis and loss of gastric parietal cells." [NCIT:P378] +synonym: "acquired pernicious anaemia" EXACT OMO:0003005 [] synonym: "acquired pernicious anemia" EXACT [Orphanet:120] +synonym: "Addison anaemia" EXACT OMO:0003005 [] synonym: "Addison anemia" EXACT [] +synonym: "Addison's anaemia" EXACT OMO:0003005 [] synonym: "Addison's anemia" EXACT [DOID:13381] +synonym: "Addison-Biermer anaemia" EXACT OMO:0003005 [] synonym: "Addison-Biermer anemia" EXACT [Orphanet:120] +synonym: "anaemia pernicious" EXACT OMO:0003005 [] synonym: "anemia pernicious" EXACT [DOID:13381, MTH:NOCODE] +synonym: "Biermer anaemia" EXACT OMO:0003005 [] synonym: "Biermer anemia" EXACT [Orphanet:120] synonym: "Biermer disease" EXACT [Orphanet:120] +synonym: "Biermer's anaemia" EXACT OMO:0003005 [] synonym: "Biermer's anemia" EXACT [DOID:13381] synonym: "intrinsic factor deficiency" EXACT [NCIT:C2871] +synonym: "juvenile onset pernicious anaemia" EXACT OMO:0003005 [] synonym: "juvenile onset pernicious anemia" EXACT [Orphanet:120] synonym: "pernicious anemia" EXACT [OMIM:170900] xref: DOID:13381 {source="EFO:0005576", source="MONDO:equivalentTo"} @@ -148733,7 +151917,9 @@ id: MONDO:0008235 name: pheochromocytoma-islet cell tumor syndrome subset: gard_rare {source="GARD:0004321"} synonym: "pheochromocytoma and islet cell tumor of the pancreas" RELATED [GARD:0004321] +synonym: "pheochromocytoma and islet cell tumour of the pancreas" RELATED OMO:0003005 [] synonym: "pheochromocytoma--islet cell tumor syndrome" EXACT [OMIM:171420] +synonym: "pheochromocytoma--islet cell tumour syndrome" EXACT OMO:0003005 [] synonym: "pheochromocytoma-islet cell tumor syndrome" EXACT [GARD:0004321] xref: MESH:C566807 {source="MONDO:equivalentTo"} xref: OMIM:171420 {source="MONDO:equivalentTo"} @@ -149623,6 +152809,7 @@ synonym: "JPHT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:175050] synonym: "jPS/Hht" RELATED [OMIM:175050] synonym: "juvenile polyposis with hereditary hemorrhagic telangiectasia" RELATED [OMIM:175050] synonym: "juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:175050] +synonym: "polyposis, generalised juvenile, with pulmonary arteriovenous malformation" RELATED OMO:0003005 [] synonym: "polyposis, generalized juvenile, with pulmonary arteriovenous malformation" RELATED [OMIM:175050] synonym: "telangiectasia, hereditary hemorrhagic, with juvenile polyposis coli" RELATED [OMIM:175050] xref: DOID:0111543 {source="MONDO:equivalentTo"} @@ -149841,11 +153028,13 @@ synonym: "ADT1P" EXACT ABBREVIATION [OMIM:175780] synonym: "autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy" EXACT [DOID:0090125] synonym: "brain small vessel disease with Axenfeld-Riegar anomaly" EXACT [DOID:0090125] synonym: "brain small vessel disease with axenfeld-rieger anomaly" EXACT [OMIM:175780, OMIM:607595] +synonym: "brain small vessel disease with haemorrhage" EXACT OMO:0003005 [] synonym: "brain small vessel disease with hemorrhage" EXACT [DOID:0090125, OMIM:175780] synonym: "brain small vessel disease with or without ocular anomalies" EXACT [DOID:0090125, MONDO:Lexical, OMIM:607595] synonym: "BSVD" EXACT ABBREVIATION [DOID:0090125, MONDO:Lexical, OMIM:607595] synonym: "BSVD1" EXACT ABBREVIATION [OMIM:175780] synonym: "COL4A1 porencephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +synonym: "COL4A1-related brain small vessel disease with haemorrhage" EXACT OMO:0003005 [] synonym: "COL4A1-related brain small vessel disease with hemorrhage" EXACT [DOID:0090125, Orphanet:36383] synonym: "COL4A1-related familial vascular leukoencephalopathy" EXACT [OMIM:607595] synonym: "COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome" EXACT [DOID:0090125, Orphanet:36383] @@ -150491,8 +153680,11 @@ synonym: "malignant neoplasm of the prostate" EXACT [NCIT:C7378] synonym: "malignant prostate gland neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant prostate neoplasm" EXACT [NCIT:C7378] synonym: "malignant prostate tumor" EXACT [NCIT:C7378] +synonym: "malignant prostate tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of prostate" EXACT [NCIT:C7378] synonym: "malignant tumor of the prostate" EXACT [DOID:10283, NCIT:C7378] +synonym: "malignant tumour of prostate" EXACT OMO:0003005 [] +synonym: "malignant tumour of the prostate" EXACT OMO:0003005 [] synonym: "NGP - new growth of prostate" EXACT [DOID:10283] synonym: "prostate cancer, familial" NARROW [DOID:10283, MESH:C537243] synonym: "prostate gland cancer" EXACT [MONDO:patterns/location] @@ -150500,6 +153692,7 @@ synonym: "prostate neoplasm" BROAD [DOID:10283] synonym: "prostatic cancer" EXACT [DOID:10283] synonym: "prostatic neoplasm" BROAD [DOID:10283] synonym: "tumor of the prostate" BROAD [DOID:10283, NCIT:C3343] +synonym: "tumour of the prostate" BROAD OMO:0003005 [] xref: DOID:10283 {source="MONDO:equivalentTo"} xref: ICD10CM:C61 {source="Orphanet:1331/attributed", source="Orphanet:1331/ntbt", source="Orphanet:1331", source="DOID:10283"} xref: ICD9:185 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10283"} @@ -151074,6 +154267,7 @@ synonym: "HAPH" RELATED ABBREVIATION [GARD:0008348] synonym: "high altitude pulmonary hypertension" RELATED [OMIM:178400] synonym: "pulmonary edema of mountaineers" RELATED [GARD:0008348] synonym: "pulmonary edema of mountaineers, susceptibility to" EXACT [OMIM:178400] +synonym: "pulmonary oedema of mountaineers" RELATED OMO:0003005 [] xref: ICD9:416.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:993.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535833 {source="MONDO:equivalentTo"} @@ -151434,6 +154628,7 @@ is_a: MONDO:0003847 ! hereditary disease id: MONDO:0008367 name: red cell phospholipid defect with hemolysis subset: gard_rare {source="GARD:0010013"} +synonym: "high Red cell phosphatidylcholine hemolytic Anaemia" RELATED OMO:0003005 [] synonym: "high Red cell phosphatidylcholine hemolytic Anemia" RELATED [OMIM:179700] synonym: "HPCHA" RELATED ABBREVIATION [GARD:0010013] synonym: "leaky Red cell syndrome" RELATED [OMIM:179700] @@ -151553,6 +154748,7 @@ synonym: "retinal arterial tortuosity" EXACT [MONDO:ambiguous] synonym: "retinal arterial tortuosity (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "retinal arteries, tortuosity OF" RELATED [MONDO:Lexical, OMIM:180000] synonym: "retinal arteriolar tortuosity" EXACT [Orphanet:75326] +synonym: "retinal haemorrhage with vascular tortuosity" EXACT OMO:0003005 [] synonym: "retinal hemorrhage with vascular tortuosity" EXACT [OMIM:180000, Orphanet:75326] synonym: "tortuosity of retinal arteries" EXACT [Orphanet:75326] xref: DOID:0111547 {source="MONDO:equivalentTo"} @@ -152144,6 +155340,7 @@ def: "A neoplasm characterized by the presence of benign epithelial and myoepith subset: ordo_histopathological_subtype {source="Orphanet:454821"} synonym: "adenomas, salivary gland pleomorphic, somatic" EXACT [OMIM:181030, OMIM:genemap2] synonym: "mixed tumor of the salivary gland" RELATED [DOID:452, NCIT:C35691] +synonym: "mixed tumour of the salivary gland" RELATED OMO:0003005 [] synonym: "pleomorphic adenoma" EXACT [DOID:452, NCIT:C8602] synonym: "pleomorphic adenoma (morphologic abnormality)" EXACT [DOID:452] synonym: "pleomorphic salivary gland adenoma" RELATED [Orphanet:454821] @@ -154016,6 +157213,9 @@ synonym: "Pierre Robin sequence-fetal chondrodysplasia syndrome" EXACT [Orphanet synonym: "Pierre Robin syndrome with fetal chondrodysplasia" EXACT [OMIM:277610] synonym: "Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type" EXACT [OMIM:184840] synonym: "Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type, formerly" EXACT [OMIM:184840] +synonym: "Pierre Robin syndrome with foetal chondrodysplasia" EXACT OMO:0003005 [] +synonym: "Pierre Robin syndrome with foetal chondrodysplasia Stickler syndrome, Nonocular type" EXACT OMO:0003005 [] +synonym: "Pierre Robin syndrome with foetal chondrodysplasia Stickler syndrome, Nonocular type, formerly" EXACT OMO:0003005 [] synonym: "Pierre Robin syndrome-fetal chondrodysplasia syndrome" EXACT [Orphanet:3450] synonym: "Stickler syndrome caused by mutation in COL11A2" EXACT [MONDO:design_pattern] synonym: "Stickler syndrome nonocular type" RELATED [GARD:0005021] @@ -154815,6 +158015,7 @@ synonym: "granulomatosis, familial juvenile systemic" EXACT [OMIM:186580] synonym: "granulomatosis, familial, Blau type" EXACT [OMIM:186580] synonym: "granulomatous inflammatory arthritis, dermatitis, and uveitis, familial" EXACT [OMIM:186580] synonym: "Jabs syndrome" EXACT [DOID:0050678, OMIM:186580] +synonym: "paediatric granulomatous arthritis" EXACT OMO:0003005 [] synonym: "pediatric granulomatous arthritis" EXACT DEPRECATED [NCIT:C116794] synonym: "sarcoidosis, early-onset" EXACT [OMIM:609464] synonym: "synovitis granulomatous with uveitis and cranial neuropathies" RELATED [GARD:0000304] @@ -154960,6 +158161,7 @@ name: generalized essential telangiectasia subset: ordo_disease {source="Orphanet:280774"} synonym: "GET" EXACT ABBREVIATION [Orphanet:280774] synonym: "Hbt" RELATED [OMIM:187260] +synonym: "telangiectasia, generalised essential" RELATED OMO:0003005 [] synonym: "telangiectasia, generalized essential" RELATED [OMIM:187260] synonym: "telangiectasia, hereditary benign" RELATED [OMIM:187260] xref: OMIM:187260 {source="MONDO:equivalentTo"} @@ -156023,6 +159225,7 @@ synonym: "hypertension, pregnancy-induced" RELATED [OMIM:189800] synonym: "PEE1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:189800] synonym: "PREECLAMPSIA/eclampsia 1" RELATED [MONDO:Lexical, OMIM:189800] synonym: "PREG1" RELATED [OMIM:189800] +synonym: "toxaemia of pregnancy" RELATED OMO:0003005 [] synonym: "toxemia of pregnancy" RELATED [OMIM:189800] xref: DOID:13133 {source="MONDO:equivalentTo", source="EFO:0007297"} xref: EFO:0007297 {source="MONDO:equivalentTo"} @@ -156225,6 +159428,7 @@ synonym: "familial multiple trichodiscomas" RELATED [GARD:0008479] synonym: "FMDF" EXACT ABBREVIATION [MONDO:Lexical, OMIM:190340] synonym: "hereditary multiple trichodiscomas" RELATED [GARD:0008479] synonym: "small benign fibrovascular tumor of the dermal part of the hair disk" RELATED [GARD:0008479] +synonym: "small benign fibrovascular tumour of the dermal part of the hair disc" RELATED OMO:0003005 [] synonym: "trichodiscomas, familial multiple" RELATED [OMIM:190340] xref: MESH:C536847 {source="MONDO:equivalentTo"} xref: OMIM:190340 {source="Orphanet:538756", source="MONDO:equivalentTo"} @@ -156541,6 +159745,7 @@ synonym: "colorblindness, tritan" RELATED [OMIM:190900] synonym: "colorblindness, tritanopic" RELATED [OMIM:190900] synonym: "congenital tritanopia" EXACT [Orphanet:88629] synonym: "tritan color blindness" EXACT [Orphanet:88629] +synonym: "tritan colour blindness" EXACT OMO:0003005 [] synonym: "tritan defect" EXACT [DOID:11661, ICD9CM:368.53] synonym: "tritanopia" EXACT [DOID:11661, OMIM:190900] xref: DOID:11661 {source="MONDO:equivalentTo"} @@ -156835,12 +160040,15 @@ synonym: "cancer of ureter" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of the ureter" EXACT [NCIT:C7543] synonym: "malignant neoplasm of ureter" EXACT [MONDO:patterns/cancer, NCIT:C7543] synonym: "malignant tumor of the ureter" EXACT [NCIT:C7543] -synonym: "malignant tumor of ureter" EXACT [NCIT:C7543] -synonym: "malignant tumor of ureter" EXACT [DOID:11819] +synonym: "malignant tumor of ureter" EXACT [DOID:11819, NCIT:C7543] +synonym: "malignant tumour of the ureter" EXACT OMO:0003005 [] +synonym: "malignant tumour of ureter" EXACT OMO:0003005 [] synonym: "malignant ureter neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7543] synonym: "malignant ureter tumor" EXACT [NCIT:C7543] +synonym: "malignant ureter tumour" EXACT OMO:0003005 [] synonym: "malignant ureteral neoplasm" EXACT [NCIT:C7543] synonym: "malignant ureteral tumor" EXACT [DOID:11819, NCIT:C7543] +synonym: "malignant ureteral tumour" EXACT OMO:0003005 [] synonym: "ureter cancer" EXACT [MONDO:patterns/location] synonym: "ureter, cancer OF" RELATED [OMIM:191600] xref: DOID:11819 {source="MONDO:equivalentTo"} @@ -157887,12 +161095,15 @@ id: MONDO:0008679 name: Wilms tumor 1 synonym: "nephroblastoma" RELATED [OMIM:194070] synonym: "renal Wilms tumor" BROAD [DOID:2154, NCIT:C40407] +synonym: "renal Wilms tumour" BROAD OMO:0003005 [] synonym: "Wilms tumor 1" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:194070] synonym: "Wilms tumor type 1" EXACT [MONDORULE:1, OMIM:194070] synonym: "Wilms tumor, autosomal dominant, somatic mutation" EXACT [OMIM:194070, OMIM:genemap2] synonym: "Wilms tumor, somatic" EXACT [OMIM:194070, OMIM:genemap2] synonym: "Wilms tumor, type 1, autosomal dominant, somatic mutation" EXACT [OMIM:194070, OMIM:genemap2] +synonym: "Wilms tumour type 1" EXACT OMO:0003005 [] synonym: "Wilms' tumor" BROAD [DOID:2154] +synonym: "Wilms' tumour" BROAD OMO:0003005 [] synonym: "WT1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:194070] xref: MESH:D009396 {source="DOID:2154"} xref: NCIT:C27730 {source="DOID:2154", source="MONDO:directSiblingOf"} @@ -157917,10 +161128,13 @@ id: MONDO:0008680 name: Wilms tumor 2 subset: gard_rare synonym: "familial Wilms tumor 2" RELATED [GARD:0008559] +synonym: "familial Wilms tumour 2" RELATED OMO:0003005 [] synonym: "FWT2" RELATED ABBREVIATION [GARD:0008559] synonym: "Wilms tumor 2" EXACT [MESH:C536853, MONDO:Lexical, OMIM:194071] synonym: "Wilms tumor 2, autosomal dominant, somatic mutation" EXACT [OMIM:194071, OMIM:genemap2] synonym: "Wilms tumor type 2" EXACT [MONDORULE:1, OMIM:194071] +synonym: "Wilms tumour 2, autosomal dominant, somatic mutation" EXACT OMO:0003005 [] +synonym: "Wilms tumour type 2" EXACT OMO:0003005 [] synonym: "WT2" RELATED ABBREVIATION [MESH:C536853, MONDO:Lexical, OMIM:194071] xref: MESH:C536853 {source="MONDO:equivalentTo"} xref: OMIM:194071 {source="MONDO:equivalentTo"} @@ -158009,11 +161223,15 @@ synonym: "Denys-Drash syndrome" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:194 synonym: "Denys-Drash syndrome, autosomal dominant, somatic mutation" EXACT [OMIM:194080, OMIM:genemap2] synonym: "Drash syndrome" EXACT [OMIM:194080, Orphanet:220] synonym: "nephropathy associated with male pseudohermaphroditism and Wilms' tumor" RELATED [GARD:0005576] +synonym: "nephropathy associated with male pseudohermaphroditism and Wilms' tumour" RELATED OMO:0003005 [] synonym: "nephropathy, Wilms tumor, and genital anomalies" RELATED [OMIM:194080] synonym: "nephrotic syndrome type 4" EXACT [NCIT:C84668] synonym: "pseudohermaphroditism, nephron disorder and Wilms' tumor" RELATED [GARD:0005576] +synonym: "pseudohermaphroditism, nephron disorder and Wilms' tumour" RELATED OMO:0003005 [] synonym: "Wilms tumor and pseudo- or true hermaphroditism" RELATED [OMIM:194080] synonym: "Wilms tumor and pseudohermaphroditism" EXACT [Orphanet:220] +synonym: "Wilms tumour and pseudo- or true hermaphroditism" RELATED OMO:0003005 [] +synonym: "Wilms tumour and pseudohermaphroditism" EXACT OMO:0003005 [] xref: DOID:3764 {source="MONDO:equivalentTo"} xref: ICD10CM:N04.1 {source="Orphanet:220/attributed", source="Orphanet:220/ntbt", source="Orphanet:220"} xref: ICD9:189.0 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -158152,12 +161370,18 @@ name: isolated familial wooly hair disorder def: "Woolly hair is a rare congenital abnormality of the structure of the scalp hair marked by extreme kinkiness of the hair." [Orphanet:170] subset: ordo_disease {source="Orphanet:170"} synonym: "ADWH" RELATED ABBREVIATION [OMIM:194300] +synonym: "familial woolly hair (autosomal recessive)" RELATED OMO:0003005 [] +synonym: "familial woolly hair syndrome" EXACT OMO:0003005 [] synonym: "familial wooly hair (autosomal recessive)" RELATED [GARD:0005597] synonym: "familial wooly hair syndrome" EXACT [Orphanet:170] +synonym: "hereditary woolly hair (autosomal dominant)" RELATED OMO:0003005 [] +synonym: "hereditary woolly hair syndrome" EXACT OMO:0003005 [] synonym: "hereditary wooly hair (autosomal dominant)" RELATED [GARD:0005597] synonym: "hereditary wooly hair syndrome" EXACT [Orphanet:170] -synonym: "wooly hair" EXACT [Orphanet:170] -synonym: "wooly hair" EXACT [MONDO:ambiguous] +synonym: "woolly hair" EXACT OMO:0003005 [] +synonym: "woolly hair syndrome" RELATED OMO:0003005 [] +synonym: "woolly hair, autosomal dominant" RELATED OMO:0003005 [] +synonym: "wooly hair" EXACT [MONDO:ambiguous, Orphanet:170] synonym: "wooly hair syndrome" RELATED [GARD:0005597] synonym: "wooly hair, autosomal dominant" RELATED [MONDO:Lexical, OMIM:194300] xref: DOID:0111572 {source="MONDO:equivalentTo"} @@ -158189,6 +161413,7 @@ name: WT limb-blood syndrome def: "WT limb-blood syndrome is characterized by hematological anomalies (Fanconi anemia, leukemia and lymphoma) often appearing during childhood. Anomalies of the limbs and hands are also present: bifid or hypoplastic thumbs, cutaneous syndactyly, and ulnar and radial defects. The syndrome has been described in several families. Transmission is autosomal dominant." [Orphanet:3466] subset: gard_rare {source="GARD:0000039"} subset: ordo_disease {source="Orphanet:3466"} +synonym: "radial-ulnar hypoplasia with bone marrow failure and/or leukaemia" RELATED OMO:0003005 [] synonym: "radial-ulnar hypoplasia with bone marrow failure and/or leukemia" RELATED [GARD:0000039] synonym: "WT limb blood syndrome" RELATED [GARD:0000039] synonym: "WT limb-blood syndrome" EXACT [OMIM:194350] @@ -158210,9 +161435,13 @@ subset: gard_rare synonym: "dehydrated hereditary stomatocytosis" RELATED [OMIM:194380] synonym: "DEHYDRATED hereditary stomatocytosis 1 with or without pseudohyperkalemia and/OR perinatal edema" RELATED [OMIM:194380] synonym: "Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/Or perinatal edema" RELATED [OMIM:194380] +synonym: "DEHYDRATED hereditary stomatocytosis 1 with or without pseudohyperkalemia and/OR perinatal oedema" RELATED OMO:0003005 [] +synonym: "Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/Or perinatal oedema" RELATED OMO:0003005 [] synonym: "Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema" RELATED [GARD:0010676] +synonym: "Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal oedema" RELATED OMO:0003005 [] synonym: "DEHYDRATED hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema" RELATED [OMIM:194380] synonym: "dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema" EXACT [MONDO:Lexical, OMIM:194380] +synonym: "DEHYDRATED hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal oedema" RELATED OMO:0003005 [] synonym: "Desiccytosis, hereditary" RELATED [OMIM:194380] synonym: "DHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:194380] synonym: "DHS1" RELATED ABBREVIATION [OMIM:194380] @@ -158410,6 +161639,7 @@ synonym: "achalasia" EXACT [MONDO:ambiguous] synonym: "achalasia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "achalasia of cardia" EXACT [DOID:9164] synonym: "achalasia of esophagus" EXACT [DOID:9164] +synonym: "achalasia of oesophagus" EXACT OMO:0003005 [] synonym: "cardiospasm" EXACT [DOID:9164] synonym: "esophageal achalasia" EXACT [DOID:9164, MTH:NOCODE] synonym: "hypertensive lower esophageal sphincter" EXACT [DOID:9164] @@ -159386,6 +162616,7 @@ name: adrenocortical carcinoma, hereditary def: "An instance of adrenal cortex carcinoma that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] synonym: "ADCC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:202300] synonym: "adrenocortical carcinoma, hereditary" EXACT [MONDO:Lexical, OMIM:202300] +synonym: "adrenocortical carcinoma, paediatric" RELATED OMO:0003005 [] synonym: "adrenocortical carcinoma, pediatric" RELATED [OMIM:202300] synonym: "hereditary adrenal cortex carcinoma" EXACT [MONDO:patterns/hereditary] xref: MESH:C565972 {source="MONDO:equivalentTo"} @@ -159967,6 +163198,7 @@ synonym: "alopecia areata universalis" RELATED [GARD:0000614] synonym: "alopecia universalis" RELATED [OMIM:203655] synonym: "alopecia universalis congenita" EXACT [DOID:0050634, MONDO:Lexical, OMIM:203655] synonym: "ALUNC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:203655] +synonym: "atrichia, generalised" EXACT OMO:0003005 [] synonym: "atrichia, generalized" EXACT [OMIM:203655] synonym: "AU" RELATED ABBREVIATION [GARD:0000614] xref: DOID:0050634 {source="MONDO:equivalentTo"} @@ -159997,6 +163229,7 @@ synonym: "Alper syndrome" EXACT [NCIT:C35257] synonym: "Alper's disease" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Alper's syndrome" EXACT [DOID:1442, NCIT:C35257] synonym: "Alpers diffuse Degeneration of cerebral Gray matter with hepatic cirrhosis" RELATED [OMIM:203700] +synonym: "Alpers diffuse Degeneration of cerebral Grey matter with hepatic cirrhosis" RELATED OMO:0003005 [] synonym: "Alpers disease" EXACT [NCIT:C35257] synonym: "Alpers Huttenlocher disease" EXACT [NCIT:C35257] synonym: "Alpers Huttenlocher syndrome" EXACT [NCIT:C35257] @@ -160414,6 +163647,7 @@ synonym: "enamel-renal syndrome" EXACT [DOID:0110066, OMIM:204690] synonym: "enamel-renal-gingival syndrome" EXACT [DOID:0110066, OMIM:204690] synonym: "ers" EXACT [DOID:0110066] synonym: "FAM20A amelogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +synonym: "generalised enamel hypoplasia and renal dysfunction" RELATED OMO:0003005 [] synonym: "generalized enamel hypoplasia and renal dysfunction" RELATED [GARD:0000646] xref: DOID:0110066 {source="MONDO:equivalentTo"} xref: ICD10CM:K00.5 {source="Orphanet:171836/attributed", source="Orphanet:171836/ntbt", source="Orphanet:171836", source="Orphanet:1031/attributed", source="Orphanet:1031/ntbt", source="DOID:0110066", source="Orphanet:1031"} @@ -160695,8 +163929,10 @@ id: MONDO:0008785 name: sideroblastic anemia 2 synonym: "anemia, sideroblastic, 2, pyridoxine-refractory" RELATED [OMIM:205950] synonym: "anemia, sideroblastic, pyridoxine-refractory, autosomal recessive" RELATED [OMIM:205950] +synonym: "pyridoxine refractory sideroblastic anaemia" RELATED OMO:0003005 [] synonym: "pyridoxine refractory sideroblastic anemia" RELATED [GARD:0008249] synonym: "SIDBA2" RELATED ABBREVIATION [OMIM:205950] +synonym: "sideroblastic anaemia pyridoxine-refractory autosomal recessive" RELATED OMO:0003005 [] synonym: "sideroblastic anemia pyridoxine-refractory autosomal recessive" RELATED [GARD:0008249] xref: DOID:0060065 {source="MONDO:equivalentTo"} xref: MESH:C567145 {source="MONDO:equivalentTo"} @@ -160712,10 +163948,13 @@ property_value: confidence "0.04575163398692794" xsd:double [Term] id: MONDO:0008786 name: pyridoxine-responsive sideroblastic anemia +synonym: "anaemia congenital sideroblastic B6-responsive" RELATED OMO:0003005 [] synonym: "anemia congenital sideroblastic B6-responsive" RELATED [GARD:0009872] synonym: "anemia, congenital sideroblastic, B6-responsive" RELATED [OMIM:206000] synonym: "anemia, sideroblastic, pyridoxine-responsive, autosomal recessive" RELATED [OMIM:206000] +synonym: "B6-responsive sideroblastic anaemia" RELATED OMO:0003005 [] synonym: "B6-responsive sideroblastic anemia" RELATED [GARD:0009872] +synonym: "sideroblastic anaemia pyridoxine-responsive autosomal recessive" RELATED OMO:0003005 [] synonym: "sideroblastic anemia pyridoxine-responsive autosomal recessive" RELATED [GARD:0009872] xref: DOID:0060066 {source="MONDO:equivalentTo"} xref: MESH:C565954 {source="MONDO:equivalentTo"} @@ -160734,7 +163973,9 @@ subset: ordo_disease {source="Orphanet:83642"} synonym: "AHMIO1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:206100] synonym: "anemia, hypochromic microcytic, with iron overload 1" RELATED [MONDO:Lexical, OMIM:206100] synonym: "anemia, hypochromic microcytic, with iron overload type 1" EXACT [MONDORULE:1, OMIM:206100] +synonym: "hypochromic microcytic anaemia with iron overload" RELATED OMO:0003005 [] synonym: "hypochromic microcytic anemia with iron overload" RELATED [GARD:0012360] +synonym: "microcytic anaemia and hepatic iron overload" RELATED OMO:0003005 [] synonym: "microcytic anemia and hepatic iron overload" RELATED [GARD:0012360] xref: ICD10CM:D50.8 {source="Orphanet:83642/attributed", source="Orphanet:83642/ntbt", source="Orphanet:83642"} xref: OMIM:206100 {source="Orphanet:83642", source="MONDO:equivalentTo", source="Orphanet:83642/e"} @@ -160758,7 +163999,9 @@ synonym: "anemia, hypochromic microcytic, with defect in iron metabolism" RELATE synonym: "IRIDA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:206200] synonym: "IRIDA syndrome" EXACT CLINGEN_PREFERRED [] synonym: "iron-handling disorder, hereditary" RELATED [OMIM:206200] +synonym: "iron-refractory iron deficiency anaemia" EXACT OMO:0003005 [] synonym: "iron-refractory iron deficiency anemia" EXACT [MONDO:Lexical, OMIM:206200, Orphanet:209981] +synonym: "pseudo-iron-deficiency Anaemia" RELATED OMO:0003005 [] synonym: "pseudo-iron-deficiency Anemia" RELATED [OMIM:206200] xref: ICD10CM:D50.8 {source="Orphanet:209981", source="Orphanet:209981/attributed", source="Orphanet:209981/ntbt"} xref: MESH:C562385 {source="MONDO:equivalentTo"} @@ -161160,7 +164403,9 @@ name: polyneuropathy-hand defect syndrome def: "Digital extensor muscle aplasia-polyneuropathy is a rare, hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986." [Orphanet:2926] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:2926"} +synonym: "aplasia of extensor muscles of fingers, unilateral, with generalised polyneuropathy" RELATED OMO:0003005 [] synonym: "aplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathy" RELATED [OMIM:207740] +synonym: "congenital aplasia of the extensor muscles of the fingers and thumb associated with generalised polyneuropathy" RELATED OMO:0003005 [] synonym: "congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy" RELATED [GARD:0002589, MESH:C535624] synonym: "digital extensor muscle aplasia-polyneuropathy" RELATED [Orphanet:2926] synonym: "Hamanishi Ueba Tsuji syndrome" EXACT [GARD:0002589] @@ -161371,6 +164616,7 @@ synonym: "coronary sclerosis, medial, of infancy" RELATED [OMIM:208000] synonym: "ENPP1 arterial calcification of infancy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Gaci" RELATED [OMIM:208000] synonym: "GACI1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:208000] +synonym: "generalised arterial calcification of infancy 1" EXACT OMO:0003005 [] synonym: "generalized arterial calcification of infancy 1" EXACT [NCIT:C128805] synonym: "idiopathic infantile arterial calcification" RELATED [OMIM:208000] xref: NCIT:C128805 {source="MONDO:equivalentTo"} @@ -161489,6 +164735,7 @@ synonym: "arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome" EXAC synonym: "FADS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:208150, Orphanet:994] synonym: "fetal akinesia deformation sequence" EXACT [MONDO:Lexical, OMIM:208150] synonym: "fetal akinesia sequence" RELATED [OMIM:208150] +synonym: "foetal akinesia sequence" RELATED OMO:0003005 [] xref: DOID:0111375 {source="MONDO:equivalentTo"} xref: ICD10CM:Q87.8 {source="Orphanet:994", source="Orphanet:994/attributed", source="Orphanet:994/ntbt"} xref: ICD9:754.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -162587,6 +165834,7 @@ synonym: "Bird-headed dwarfism with features of premature senility" RELATED [GAR synonym: "Bird-headed dwarfism, Montreal type" RELATED [OMIM:210700] synonym: "microcephalic primordial dwarfism, Montreal type" RELATED [OMIM:210700] synonym: "premature senility, premature graying and loss of scalp hair and wrinkled skin of the palms" RELATED [GARD:0000895] +synonym: "premature senility, premature greying and loss of scalp hair and wrinkled skin of the palms" RELATED OMO:0003005 [] xref: ICD10CM:Q87.1 {source="Orphanet:2617/attributed", source="Orphanet:2617/ntbt", source="Orphanet:2617"} xref: MESH:C535448 {source="Orphanet:2617/e", source="MONDO:equivalentTo", source="Orphanet:2617"} xref: OMIM:210700 {source="Orphanet:2617/e", source="MONDO:equivalentTo", source="Orphanet:2617"} @@ -162694,6 +165942,7 @@ synonym: "ataxia-diabetes-goiter-gonadal insufficiency syndrome" EXACT [Orphanet synonym: "Bangstad syndrome" EXACT [OMIM:210740] synonym: "Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter and primary gonadal insufficiency" RELATED [GARD:0000812] synonym: "Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency" RELATED [OMIM:210740] +synonym: "Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goitre and primary gonadal insufficiency" RELATED OMO:0003005 [] xref: ICD10CM:E31.8 {source="Orphanet:1227", source="Orphanet:1227/attributed", source="Orphanet:1227/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537902 {source="MONDO:equivalentTo", source="Orphanet:1227", source="Orphanet:1227/e"} @@ -163353,10 +166602,13 @@ synonym: "lung cancer, susceptibility to, autosomal dominant, somatic mutation" synonym: "lung neoplasm" RELATED [DOID:1324] synonym: "malignant lung neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant lung tumor" EXACT [NCIT:C7377] +synonym: "malignant lung tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of lung" EXACT [MONDO:patterns/cancer, NCIT:C7377] synonym: "malignant neoplasm of the lung" EXACT [NCIT:C7377] synonym: "malignant tumor of lung" EXACT [NCIT:C7377] synonym: "malignant tumor of the lung" EXACT [NCIT:C7377] +synonym: "malignant tumour of lung" EXACT OMO:0003005 [] +synonym: "malignant tumour of the lung" EXACT OMO:0003005 [] synonym: "Nonsmall cell lung cancer" RELATED [OMIM:211980] synonym: "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation" EXACT [OMIM:211980, OMIM:genemap2] synonym: "nonsmall cell lung cancer, somatic" EXACT [OMIM:211980, OMIM:genemap2] @@ -163965,8 +167217,12 @@ synonym: "celiac disease, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:21275 synonym: "celiac disease, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:212750] synonym: "celiac sprue, susceptibility to, 1" RELATED [OMIM:212750] synonym: "CELIAC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:212750] +synonym: "coeliac disease, susceptibility to" EXACT OMO:0003005 [] +synonym: "coeliac disease, susceptibility to, type 1" EXACT OMO:0003005 [] +synonym: "coeliac sprue, susceptibility to, 1" RELATED OMO:0003005 [] synonym: "gluten-sensitive enteropathy, susceptibility to, 1" RELATED [OMIM:212750] synonym: "susceptibility to celiac disease 1" RELATED [OMIM:212750] +synonym: "susceptibility to coeliac disease 1" RELATED OMO:0003005 [] xref: OMIM:212750 {source="MONDO:equivalentTo"} xref: Orphanet:555 {source="OMIM:212750"} xref: UMLS:C0007570 {source="MONDO:ncbi_mim2gene_medline", source="OMIM:212750"} @@ -164522,8 +167778,11 @@ synonym: "Charcot-Marie-tooth disease-deafness-intellectual disability syndrome" synonym: "Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome" EXACT [Orphanet:90103] synonym: "deafness with Charcot-Marie-Tooth disease" RELATED [OMIM:214370] synonym: "hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers" EXACT [Orphanet:90103] +synonym: "hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibres" EXACT OMO:0003005 [] synonym: "neuropathy, hereditary motor and sensory, with deafness, intellectual disability, and absent sensory large myelinated fibers" RELATED [OMIM:214370] +synonym: "neuropathy, hereditary motor and sensory, with deafness, intellectual disability, and absent sensory large myelinated fibres" RELATED OMO:0003005 [] synonym: "neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers" RELATED DEPRECATED [OMIM:214370] +synonym: "neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibres" RELATED OMO:0003005 [] xref: ICD10CM:G60.0 {source="Orphanet:90103", source="Orphanet:90103/attributed", source="Orphanet:90103/ntbt"} xref: OMIM:214370 {source="MONDO:equivalentTo", source="Orphanet:90103", source="Orphanet:90103/e"} xref: Orphanet:90103 {source="MONDO:equivalentTo", source="OMIM:214370"} @@ -164655,14 +167914,21 @@ synonym: "Chloridorrhea, congenital" RELATED [OMIM:214700] synonym: "CLD" RELATED ABBREVIATION [GARD:0010001] synonym: "congenital chloride diarrhea" RELATED [Orphanet:53689] synonym: "congenital chloride diarrhea Finnish type" EXACT [DOID:0060296] +synonym: "congenital chloride diarrhoea" RELATED OMO:0003005 [] +synonym: "congenital chloride diarrhoea Finnish type" EXACT OMO:0003005 [] synonym: "congenital chloridorrhea" EXACT [DOID:0060296, Wikipedia:Congenital_chloride_diarrhea] synonym: "congenital secretory chloride diarrhea type 1" EXACT [DOID:0060296, MONDORULE:1] +synonym: "congenital secretory chloride diarrhoea type 1" EXACT OMO:0003005 [] synonym: "Darrow-gamble disease" RELATED [GARD:0010001] synonym: "DIAR1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:214700] synonym: "diarrhea 1, secretory chloride, congenital" RELATED [MONDO:Lexical, OMIM:214700] +synonym: "diarrhoea 1, secretory chloride, congenital" RELATED OMO:0003005 [] synonym: "familial chloride diarrhea" RELATED [GARD:0010001] +synonym: "familial chloride diarrhoea" RELATED OMO:0003005 [] synonym: "secretory diarrhea caused by mutation in SLC26A3" EXACT [MONDO:design_pattern] +synonym: "secretory diarrhoea caused by mutation in SLC26A3" EXACT OMO:0003005 [] synonym: "SLC26A3 secretory diarrhea" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +synonym: "SLC26A3 secretory diarrhoea" EXACT OMO:0003005 [] xref: DOID:0060296 {source="MONDO:equivalentTo"} xref: ICD10CM:P78.3 {source="Orphanet:53689/attributed", source="Orphanet:53689/ntbt", source="Orphanet:53689"} xref: ICD9:579.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -166788,6 +170054,7 @@ id: MONDO:0009062 name: cystic fibrosis-gastritis-megaloblastic anemia syndrome def: "A rare genetic disease reported in two siblings of consanguineous Arab parents and is characterized by cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991." [Orphanet:2575] subset: ordo_disease {source="Orphanet:2575"} +synonym: "cystic fibrosis gastritis megaloblastic anaemia" RELATED OMO:0003005 [] synonym: "cystic fibrosis gastritis megaloblastic anemia" RELATED [GARD:0003303] synonym: "cystic fibrosis with Helicobacter pylori gastritis, megaloblastic anemia, and intellectual disability" RELATED [OMIM:219721] synonym: "cystic fibrosis with Helicobacter pylori gastritis, megaloblastic anemia, and mental retardation" RELATED DEPRECATED [OMIM:219721] @@ -167555,6 +170822,7 @@ name: persistent hyperplastic primary vitreous, autosomal recessive def: "Autosomal recessive form of persistent hyperplastic primary vitreous." [MONDO:patterns/autosomal_recessive] synonym: "autosomal recessive persistent hyperplastic primary vitreous" EXACT [MONDO:design_pattern] synonym: "persistent fetal vasculature" RELATED [OMIM:221900] +synonym: "persistent foetal vasculature" RELATED OMO:0003005 [] synonym: "persistent hyperplastic primary vitreous, autosomal recessive" EXACT [MONDO:Lexical, MONDO:patterns/autosomal_recessive, OMIM:221900] synonym: "PHPVAR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:221900] synonym: "retinal nonattachment and falciform detachment" RELATED [OMIM:221900] @@ -167717,10 +170985,13 @@ name: trichohepatoenteric syndrome def: "A severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction." [Orphanet:84064] subset: ordo_disease {source="Orphanet:84064"} synonym: "phenotypic diarrhea" EXACT [Orphanet:84064] +synonym: "phenotypic diarrhoea" EXACT OMO:0003005 [] synonym: "SD/THE" EXACT [Orphanet:84064] synonym: "Syndromatic diarrhea" RELATED [GARD:0005258] +synonym: "Syndromatic diarrhoea" RELATED OMO:0003005 [] synonym: "syndromic diarrhea" EXACT [MONDO:patterns/syndromic] synonym: "syndromic diarrhea/Tricho-hepato-enteric syndrome" EXACT [Orphanet:84064] +synonym: "syndromic diarrhoea" EXACT OMO:0003005 [] synonym: "THES1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:222470] synonym: "Tricho-hepato-enteric syndrome" EXACT [Orphanet:84064] synonym: "Trichohepatoenteric syndrome" EXACT [Orphanet:84064] @@ -168172,7 +171443,9 @@ synonym: "Dubowitz syndrome" EXACT [OMIM:223370] synonym: "Dubowitz's syndrome" EXACT [DOID:14796] synonym: "dwarfism-eczema-peculiar facies syndrome" RELATED [GARD:0006290] synonym: "intrauterine growth retardation, short stature, microcephaly, mild intellectual disability with behavior problems, eczema, and unusual and distinctive faci" RELATED [GARD:0006290] +synonym: "intrauterine growth retardation, short stature, microcephaly, mild intellectual disability with behaviour problems, eczema, and unusual and distinctive faci" RELATED OMO:0003005 [] synonym: "intrauterine growth retardation, short stature, microcephaly, mild mental retardation with behavior problems, eczema, and unusual and distinctive faci" RELATED DEPRECATED [GARD:0006290] +synonym: "intrauterine growth retardation, short stature, microcephaly, mild mental retardation with behaviour problems, eczema, and unusual and distinctive faci" RELATED OMO:0003005 [] xref: DOID:14796 {source="MONDO:equivalentTo"} xref: ICD10CM:Q87.1 {source="Orphanet:235", source="Orphanet:235/ntbt", source="Orphanet:235/inclusion", source="DOID:14796"} xref: ICD9:742.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -168403,6 +171676,7 @@ synonym: "congenital dyserythropoietic anemia type 2" EXACT CLINGEN_PREFERRED [O synonym: "dyserythropoietic Anemia, congenital, type 2" RELATED [OMIM:224100] synonym: "dyserythropoietic anemia, congenital, type II" EXACT [OMIM:224100, OMIM:genemap2] synonym: "dyserythropoietic Anemia, hempas type" RELATED [OMIM:224100] +synonym: "hempas anaemia" RELATED OMO:0003005 [] synonym: "hempas anemia" RELATED [GARD:0002001] synonym: "hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)" EXACT [Orphanet:98873] synonym: "hereditary erythroblastic multinuclearity with Positive acidified-serum test" RELATED [OMIM:224100] @@ -168659,6 +171933,7 @@ def: "A rare autosomal recessive ectodermal dysplasia characterized by multiple subset: ordo_disease {source="Orphanet:50944"} synonym: "eccrine tumors with ectodermal dysplasia" RELATED [OMIM:224750] synonym: "eccrine tumors-ectodermal dysplasia" EXACT [Orphanet:50944] +synonym: "eccrine tumours with ectodermal dysplasia" RELATED OMO:0003005 [] synonym: "keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis" RELATED [OMIM:224750] synonym: "keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome" EXACT [Orphanet:50944] synonym: "palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome" EXACT [Orphanet:50944] @@ -169381,6 +172656,8 @@ id: MONDO:0009177 name: late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome subset: ordo_disease {source="Orphanet:231556"} synonym: "epidermolysis bullosa simplex localisata associated with anodontia, hair and nail disorders" RELATED [GARD:0000299] +synonym: "epidermolysis bullosa, late-onset localised junctional, with intellectual disability" RELATED OMO:0003005 [] +synonym: "epidermolysis bullosa, late-onset localised junctional, with mental retardation" RELATED OMO:0003005 [] synonym: "epidermolysis bullosa, late-onset localized junctional, with intellectual disability" RELATED [OMIM:226440] synonym: "epidermolysis bullosa, late-onset localized junctional, with mental retardation" RELATED DEPRECATED [OMIM:226440] xref: ICD10CM:Q81.8 {source="Orphanet:231556", source="Orphanet:231556/attributed", source="Orphanet:231556/ntbt"} @@ -169420,14 +172697,19 @@ synonym: "epidermolysis bullosa dystrophica, AR" EXACT [OMIM:226600, OMIM:genema synonym: "epidermolysis bullosa dystrophica, autosomal recessive" RELATED [MONDO:Lexical, OMIM:226600] synonym: "epidermolysis bullosa dystrophica, autosomal recessive, Localisata variant" RELATED [OMIM:226600] synonym: "epidermolysis bullosa dystrophica, autosomal recessive, modifier of" EXACT [OMIM:226600, OMIM:genemap2] +synonym: "epidermolysis bullosa dystrophica, generalised severe, autosomal recessive" RELATED OMO:0003005 [] synonym: "epidermolysis bullosa dystrophica, generalized severe, autosomal recessive" RELATED [OMIM:226600] synonym: "epidermolysis bullosa dystrophica, Hallopeau-Siemens type" RELATED [OMIM:226600] synonym: "RDEB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:226600] synonym: "RDEB generalisata gravis" EXACT [Orphanet:79408] synonym: "RDEB, Hallopeau-Siemens type" EXACT [DOID:0060642, Orphanet:79408] +synonym: "RDEB, severe generalised" RELATED OMO:0003005 [] synonym: "RDEB, severe generalized" RELATED [GARD:0006308] synonym: "RDEB-sev gen" EXACT [Orphanet:79408] +synonym: "recessive dystrophic epidermolysis bullosa, severe generalised" RELATED OMO:0003005 [] synonym: "recessive dystrophic epidermolysis bullosa, severe generalized" RELATED [GARD:0006308] +synonym: "severe generalised RDEB" NARROW OMO:0003005 [] +synonym: "severe generalised recessive dystrophic epidermolysis bullosa" NARROW OMO:0003005 [] synonym: "severe generalized RDEB" NARROW [DOID:0060642, Orphanet:79408] synonym: "severe generalized recessive dystrophic epidermolysis bullosa" NARROW [DOID:0060642] xref: DOID:0060642 {source="MONDO:equivalentTo"} @@ -169453,6 +172735,7 @@ synonym: "epidermolysis bullosa Junctionalis, Disentis type" RELATED [OMIM:22665 synonym: "epidermolysis bullosa Junctionalis, non-Herlitz type" RELATED [OMIM:226650] synonym: "epidermolysis bullosa Junctionalis, progressive" RELATED [OMIM:226650] synonym: "epidermolysis bullosa Junctionalis, severe Nonlethal" RELATED [OMIM:226650] +synonym: "epidermolysis bullosa, generalised atrophic benign" RELATED OMO:0003005 [] synonym: "epidermolysis bullosa, generalized atrophic benign" RELATED [OMIM:226650] synonym: "epidermolysis bullosa, junctional, Localisata variant" RELATED [OMIM:226650] synonym: "epidermolysis bullosa, junctional, non-Herlitz type" RELATED [OMIM:226650] @@ -169525,10 +172808,12 @@ synonym: "epidermolysis bullosa, junctional, Herlitz-Pearson type" RELATED [OMIM synonym: "Herlitz type epidermolysis bullosa junctionalis" EXACT [DOID:0060737] synonym: "Herlitz-Pearson type epidermolysis bullosa" RELATED [GARD:0002153] synonym: "Herlitz-Pearson-type epidermolysis bullosa" EXACT [DOID:0060737, OMIM:226700] +synonym: "JEB, generalised severe" EXACT OMO:0003005 [] synonym: "JEB, generalized severe" EXACT [Orphanet:79404] synonym: "JEB-H" EXACT [DOID:0060737, Orphanet:79404] synonym: "JEB-Herlitz type" EXACT [DOID:0060737, OMIM:226700] synonym: "junctional epidermolysis bullosa generalisata gravis" EXACT [DOID:0060737, Orphanet:79404] +synonym: "junctional epidermolysis bullosa, generalised severe" RELATED OMO:0003005 [] synonym: "junctional epidermolysis bullosa, generalized severe" RELATED [Orphanet:79404] synonym: "junctional epidermolysis bullosa, Herlitz type" RELATED [GARD:0002153] synonym: "junctional epidermolysis bullosa, Herlitz-Pearson type" EXACT [DOID:0060737, Orphanet:79404] @@ -169627,6 +172912,8 @@ synonym: "bilateral occipital calcifications with epilepsy" RELATED [GARD:000216 synonym: "CEC" EXACT ABBREVIATION [Orphanet:1459] synonym: "celiac disease epilepsy occipital calcifications" RELATED [GARD:0002166] synonym: "celiac disease, epilepsy, and cerebral calcification syndrome" EXACT [https://orcid.org/0000-0001-5208-3432, https://www.epilepsydiagnosis.org/etiology/antibody-mediated-overview.html] +synonym: "coeliac disease epilepsy occipital calcifications" RELATED OMO:0003005 [] +synonym: "coeliac disease, epilepsy, and cerebral calcification syndrome" EXACT OMO:0003005 [] synonym: "epilepsy occipital calcifications" RELATED [GARD:0002166] synonym: "epilepsy with bilateral occipital calcifications" RELATED [OMIM:226810] synonym: "familial unilateral and bilateral occipital calcifications and epilepsy" RELATED [GARD:0002166] @@ -170200,6 +173487,7 @@ synonym: "FA3" EXACT ABBREVIATION [DOID:0111087] synonym: "FACC" EXACT ABBREVIATION [DOID:0111087] synonym: "facc" RELATED [OMIM:227645] synonym: "FANCC" EXACT ABBREVIATION [DOID:0111087, MONDO:Lexical, OMIM:227645] +synonym: "Fanconi anaemia complementation group type C" EXACT OMO:0003005 [] synonym: "Fanconi anemia complementation group C" EXACT CLINGEN_PREFERRED [] synonym: "Fanconi anemia complementation group type C" EXACT [DOID:0111087, MONDORULE:1] synonym: "Fanconi anemia, complementation group C" RELATED [MONDO:Lexical, OMIM:227645] @@ -170239,10 +173527,15 @@ property_value: confidence "2.5000000000000036" xsd:double id: MONDO:0009215 name: Fanconi anemia complementation group A def: "Fanconi anemia caused by mutations of the FANCA gene. FANCA gene mutations are the most common cause of Fanconi anemia. This gene provides instructions for making a protein that is involved in the Fanconi anemia (FA) pathway." [NCIT:C125702] +synonym: "Estren-Dameshek variant of Fanconi Anaemia" RELATED OMO:0003005 [] synonym: "Estren-Dameshek variant of Fanconi Anemia" RELATED [OMIM:227650] synonym: "Estren-Dameshek variant of Fanconi pancytopenia" RELATED [OMIM:227650] synonym: "FANCA" EXACT ABBREVIATION [DOID:0111095, MONDO:Lexical, OMIM:227650] +synonym: "FANCA Fanconi anaemia" EXACT OMO:0003005 [] synonym: "FANCA Fanconi anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +synonym: "Fanconi Anaemia" RELATED OMO:0003005 [] +synonym: "Fanconi anaemia caused by mutation in FANCA" EXACT OMO:0003005 [] +synonym: "Fanconi anaemia complementation group type A" EXACT OMO:0003005 [] synonym: "Fanconi Anemia" RELATED [OMIM:227650] synonym: "Fanconi anemia caused by mutation in FANCA" EXACT [MONDO:design_pattern] synonym: "Fanconi anemia complementation group A" EXACT CLINGEN_PREFERRED [] @@ -170483,6 +173776,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:1910"} synonym: "endemic cretinism" RELATED DEPRECATED [OMIM:228355] synonym: "fetal iodine deficiency disorder" RELATED [MONDO:Lexical, OMIM:228355] synonym: "FIDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:228355] +synonym: "foetal iodine deficiency disorder" RELATED OMO:0003005 [] xref: ICD10CM:P72.2 {source="Orphanet:1910", source="Orphanet:1910/ntbt"} xref: OMIM:228355 {source="MONDO:equivalentTo", source="Orphanet:1910", source="Orphanet:1910/e"} xref: Orphanet:1910 {source="OMIM:228355", source="MONDO:equivalentTo"} @@ -170530,6 +173824,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009227 name: myofibromatosis, infantile, 1 def: "Any myofibromatosis in which the cause of the disease is a mutation in the PDGFRB gene." [MONDO:patterns/disease_series_by_gene] +synonym: "fibromatosis, congenital generalised" RELATED OMO:0003005 [] synonym: "fibromatosis, congenital generalized" RELATED [OMIM:228550] synonym: "IMF1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:228550] synonym: "myofibromatosis caused by mutation in PDGFRB" EXACT [MONDO:design_pattern] @@ -171292,8 +174587,10 @@ id: MONDO:0009259 name: gamma-glutamylcysteine synthetase deficiency def: "Gamma-glutamylcysteine synthetase deficiency is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported." [Orphanet:33574] subset: ordo_disease {source="Orphanet:33574"} +synonym: "gamma-glutamylcysteine synthetase deficiency, hemolytic anaemia due to" EXACT OMO:0003005 [] synonym: "gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to" EXACT [OMIM:230450] synonym: "glutamate-cysteine ligase deficiency" EXACT [Orphanet:33574] +synonym: "hemolytic anaemia due to gamma-glutamylcysteine synthetase deficiency" EXACT OMO:0003005 [] synonym: "hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency" EXACT [OMIM:230450, OMIM:genemap2] synonym: "inborn error of glutamate-cysteine ligase activity" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn glutamate-cysteine ligase activity disorder" EXACT [Orphanet:33574] @@ -171323,8 +174620,13 @@ subset: gard_rare subset: ordo_clinical_subtype {source="Orphanet:79255"} synonym: "Beta galactosidase deficiency type 1" RELATED [GARD:0006479] synonym: "Beta-galactosidase-1 deficiency" RELATED [OMIM:230500] +synonym: "gangliosidosis generalised GM1 infantile form" RELATED OMO:0003005 [] +synonym: "gangliosidosis generalised GM1 type 1" RELATED OMO:0003005 [] synonym: "gangliosidosis generalized GM1 infantile form" RELATED [GARD:0006479] synonym: "gangliosidosis generalized GM1 type 1" RELATED [GARD:0006479] +synonym: "gangliosidosis, generalised GM1, infantile form" RELATED OMO:0003005 [] +synonym: "gangliosidosis, generalised GM1, type 1" RELATED OMO:0003005 [] +synonym: "gangliosidosis, generalised GM1, type I, with Cardiac involvement" RELATED OMO:0003005 [] synonym: "gangliosidosis, generalized GM1, infantile form" RELATED [OMIM:230500] synonym: "gangliosidosis, generalized GM1, type 1" RELATED [OMIM:230500] synonym: "gangliosidosis, generalized GM1, type I, with Cardiac involvement" RELATED [OMIM:230500] @@ -171358,8 +174660,13 @@ name: GM1 gangliosidosis type 2 def: "GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis characterized by normal early development and psychomotor regression between seven months and three years of age." [Orphanet:79256] subset: gard_rare {source="GARD:0010126"} subset: ordo_clinical_subtype {source="Orphanet:79256"} +synonym: "gangliosidosis generalised GM1 juvenile type" RELATED OMO:0003005 [] +synonym: "gangliosidosis generalised GM1 type 2" RELATED OMO:0003005 [] synonym: "gangliosidosis generalized GM1 juvenile type" RELATED [GARD:0010126] synonym: "gangliosidosis generalized GM1 type 2" RELATED [GARD:0010126] +synonym: "gangliosidosis, generalised GM1, juvenile type" RELATED OMO:0003005 [] +synonym: "gangliosidosis, generalised GM1, late-infantile type" RELATED OMO:0003005 [] +synonym: "gangliosidosis, generalised GM1, type 2" RELATED OMO:0003005 [] synonym: "gangliosidosis, generalized GM1, juvenile type" RELATED [OMIM:230600] synonym: "gangliosidosis, generalized GM1, late-infantile type" RELATED [OMIM:230600] synonym: "gangliosidosis, generalized GM1, type 2" RELATED [OMIM:230600] @@ -171389,8 +174696,12 @@ subset: ordo_clinical_subtype {source="Orphanet:79257"} synonym: "adult GM1 gangliosidosis" RELATED [GARD:0002431] synonym: "adult-onset GM1 gangliosidosis" EXACT [Orphanet:79257] synonym: "Beta-galactosidase deficiency type 3" RELATED [GARD:0002431] +synonym: "gangliosidosis generalised GM1 chronic type" RELATED OMO:0003005 [] synonym: "gangliosidosis generalized GM1 chronic type" RELATED [GARD:0002431] synonym: "gangliosidosis GM1 type 3" RELATED [GARD:0002431] +synonym: "gangliosidosis, generalised GM1, adult type" RELATED OMO:0003005 [] +synonym: "gangliosidosis, generalised GM1, chronic type" RELATED OMO:0003005 [] +synonym: "gangliosidosis, generalised GM1, type 3" RELATED OMO:0003005 [] synonym: "gangliosidosis, generalized GM1, adult type" RELATED [OMIM:230650] synonym: "gangliosidosis, generalized GM1, chronic type" RELATED [OMIM:230650] synonym: "gangliosidosis, generalized GM1, type 3" RELATED [OMIM:230650] @@ -172068,8 +175379,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12469/glutar id: MONDO:0009284 name: glutathione synthetase deficiency without 5-oxoprolinuria subset: ordo_clinical_subtype {source="Orphanet:289849"} +synonym: "glutathione synthetase deficiency of erythrocytes, hemolytic anaemia due to" RELATED OMO:0003005 [] synonym: "glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to" RELATED [MONDO:Lexical, OMIM:231900] synonym: "GSSDE" RELATED ABBREVIATION [MONDO:Lexical, OMIM:231900] +synonym: "hemolytic anaemia due to glutathione synthetase deficiency" EXACT OMO:0003005 [] synonym: "hemolytic anemia due to glutathione synthetase deficiency" EXACT [OMIM:231900, OMIM:genemap2] xref: DOID:0112252 {source="MONDO:equivalentTo"} xref: ICD10CM:D55.1 {source="Orphanet:289849/attributed", source="Orphanet:289849/ntbt", source="Orphanet:289849"} @@ -172261,6 +175574,7 @@ synonym: "deficiency of lysosomal alpha-glucosidase" RELATED [GARD:0005714] synonym: "deficiency of maltase" EXACT [DOID:2752] synonym: "GAA deficiency" RELATED [OMIM:232300] synonym: "GAA glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +synonym: "generalised glycogenosis" EXACT OMO:0003005 [] synonym: "generalized glycogenosis" EXACT [DOID:2752] synonym: "glucosidase acid-1,4-alpha deficiency" RELATED [GARD:0002503] synonym: "glycogen storage disease 2" RELATED [OMIM:232300] @@ -172749,9 +176063,11 @@ subset: ordo_disease {source="Orphanet:375"} synonym: "anti-GBM syndrome" EXACT [Orphanet:375] synonym: "anti-glomerular basement membrane antibody disease" RELATED [GARD:0002551] synonym: "anti-glomerular basement membrane disease" EXACT [DOID:9808] +synonym: "glomerulonephritis - pulmonary haemorrhage" RELATED OMO:0003005 [] synonym: "glomerulonephritis - pulmonary hemorrhage" RELATED [GARD:0002551] synonym: "Goodpasture syndrome" EXACT [OMIM:233450, Orphanet:375] synonym: "pulmonary renal syndrome" RELATED [GARD:0002551] +synonym: "rapidly progressive glomerulonephritis with pulmonary haemorrhage" RELATED OMO:0003005 [] synonym: "rapidly progressive glomerulonephritis with pulmonary hemorrhage" RELATED [GARD:0002551] xref: DOID:9808 {source="EFO:0007290", source="MONDO:equivalentTo"} xref: EFO:0007290 {source="MONDO:equivalentTo"} @@ -173331,6 +176647,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009332 name: congenital hematological disorder def: "A disorder of the blood that is present at birth." [NCIT:C104003] +synonym: "congenital haematological system disease" EXACT OMO:0003005 [] synonym: "congenital hematological disorder" EXACT [NCIT:C104003] synonym: "congenital hematological system disease" EXACT [MONDO:patterns/congenital] xref: NCIT:C104003 {source="MONDO:equivalentTo"} @@ -173411,6 +176728,7 @@ synonym: "Hennekam lymphangiectasia-lymphedema syndrome 1" EXACT CLINGEN_PREFERR synonym: "Hennekam lymphangiectasia-lymphedema syndrome type 1" EXACT [MONDORULE:1, OMIM:235510] synonym: "Hennekam syndrome caused by mutation in CCBE1" EXACT [MONDO:design_pattern] synonym: "HKLLS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:235510] +synonym: "lymphatic dysplasia, generalised" RELATED OMO:0003005 [] synonym: "lymphatic dysplasia, generalized" RELATED [OMIM:235510] xref: OMIM:235510 {source="MONDO:equivalentTo"} xref: Orphanet:2136 {source="OMIM:235510"} @@ -173485,9 +176803,12 @@ name: non-spherocytic hemolytic anemia due to hexokinase deficiency def: "Nonspherocytic hemolytic anemia due to hexokinase deficiency (NSHA due to HK1 deficiency) is a very rare conditionmainly characterized by severe, chronic hemolysis, beginning in infancy. Approximately 20 cases of this condition have been described to date. Signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency but anemia is generally more severe. Some affected individuals reportedly have had various abnormalities in addition to NSHA including multiple malformations, panmyelopathy, and latent diabetes.Itcan be caused by mutations in the HK1 gene and is inherited in an autosomal recessive manner. Treatment may include red cell transfusions for those with severe anemia." [GARD:0003672] subset: gard_rare subset: ordo_disease {source="Orphanet:90031"} +synonym: "hemolytic anaemia due to hexokinase deficiency" EXACT OMO:0003005 [] synonym: "hemolytic anemia due to hexokinase deficiency" EXACT [OMIM:235700, OMIM:genemap2] synonym: "hemolytic anemia, nonspherocytic, due to hexokinase deficiency" RELATED [OMIM:235700] +synonym: "hexokinase deficiency hemolytic anaemia" RELATED OMO:0003005 [] synonym: "hexokinase deficiency hemolytic anemia" RELATED [GARD:0003672] +synonym: "nonspherocytic hemolytic anaemia due to hexokinase deficiency" RELATED OMO:0003005 [] synonym: "nonspherocytic hemolytic anemia due to hexokinase deficiency" RELATED [GARD:0003672] xref: ICD10CM:D55.2 {source="Orphanet:90031/inclusion", source="Orphanet:90031", source="Orphanet:90031/ntbt"} xref: MESH:C562995 {source="MONDO:equivalentTo"} @@ -173833,6 +177154,7 @@ subset: ordo_clinical_subtype {source="Orphanet:2169"} synonym: "functional methionine synthase deficiency type cblE" EXACT [Orphanet:2169] synonym: "HMAE" RELATED ABBREVIATION [MONDO:Lexical, OMIM:236270] synonym: "homocystinuria due to defect in methylation Cbl e" RELATED [GARD:0002732] +synonym: "homocystinuria-megaloblastic Anaemia due to defect in cobalamin metabolism, cblE complementation type" RELATED OMO:0003005 [] synonym: "homocystinuria-megaloblastic Anemia due to defect in cobalamin metabolism, cblE complementation type" RELATED [OMIM:236270] synonym: "homocystinuria-megaloblastic anemia, cbl e type" EXACT [OMIM:236270, OMIM:genemap2] synonym: "homocystinuria-megaloblastic anemia, cblE complementation type" RELATED [MONDO:Lexical, OMIM:236270] @@ -174143,12 +177465,15 @@ id: MONDO:0009369 name: non-immune hydrops fetalis def: "Non-immune hydrops fetalis (NIHF), a form of HF, is a severe fetal condition defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities, and is the end-stage of a wide variety of disorders." [Orphanet:363999] subset: ordo_clinical_subtype {source="Orphanet:363999"} +synonym: "Haemoglobin H hydrops fetalis syndrome" RELATED OMO:0003005 [] synonym: "Hemoglobin H hydrops fetalis syndrome" RELATED [OMIM:236750] synonym: "hydrops fetalis, Alpha-thalassemia-related" RELATED [OMIM:236750] synonym: "hydrops fetalis, nonimmune" RELATED [MONDO:Lexical, OMIM:236750] synonym: "NIHF" RELATED ABBREVIATION [MONDO:Lexical, OMIM:236750] synonym: "non-immune fetal edema" EXACT [Orphanet:363999] synonym: "non-immune fetal hydrops" EXACT [Orphanet:363999] +synonym: "non-immune foetal hydrops" EXACT OMO:0003005 [] +synonym: "non-immune foetal oedema" EXACT OMO:0003005 [] synonym: "non-immune HF" EXACT [Orphanet:363999] xref: EFO:0009051 {source="MONDO:equivalentTo"} xref: ICD10CM:P56.9 {source="Orphanet:363999", source="Orphanet:363999/btnt"} @@ -175129,6 +178454,7 @@ synonym: "L-gulonolactone oxidase, nonfunctional" RELATED [OMIM:240400] synonym: "scorbutus" RELATED [GARD:0010406] synonym: "scurvy" EXACT [NCIT:C35010, OMIM:240400] synonym: "vitamin C deficiency" EXACT [GARD:0010406, NCIT:C35010] +synonym: "vitamin C, inability to synthesise" RELATED OMO:0003005 [] synonym: "vitamin C, inability to synthesize" RELATED [OMIM:240400] xref: DOID:13577 {source="MONDO:equivalentObsolete", source="EFO:1000822"} xref: DOID:13724 {source="EFO:1001169", source="MONDO:equivalentTo"} @@ -175783,6 +179109,7 @@ synonym: "autosomal recessive congenital ichthyosis type 1" EXACT [DOID:0060656, synonym: "bathing suit ichthyosis" NARROW [DOID:0060656] synonym: "collodion baby, self-healing" RELATED [OMIM:242300] synonym: "collodion fetus" RELATED [GARD:0003170, OMIM:242300] +synonym: "collodion foetus" RELATED OMO:0003005 [] synonym: "desquamation of newborn" RELATED [GARD:0003170, OMIM:242300] synonym: "ichthyosis congenita" RELATED [GARD:0003170, OMIM:242300] synonym: "ichthyosis congenita 2" RELATED [OMIM:242300] @@ -175835,12 +179162,14 @@ synonym: "'Harlequin fetus'" RELATED [OMIM:242500] synonym: "ARCI4B" EXACT ABBREVIATION [DOID:0060713, MONDO:Lexical, OMIM:242500] synonym: "autosomal recessive congenital ichthyosis type 4B" EXACT [DOID:0060713, MONDORULE:4] synonym: "Harlequin fetus" RELATED [GARD:0006568] +synonym: "Harlequin foetus" RELATED OMO:0003005 [] synonym: "harlequin ichthyosis" EXACT [DOID:0060713] synonym: "harlequin type ichthyosis congenita" EXACT [DOID:0060713] synonym: "harlequin type ichthyosis fetalis" EXACT [DOID:0060713] synonym: "hi" EXACT [Orphanet:457] synonym: "ichthyosis , congenital, autosomal recessive 4b (harlequin)" EXACT [OMIM:242500, OMIM:genemap2] synonym: "ichthyosis congenita, Harlequin fetus type" RELATED [OMIM:242500] +synonym: "ichthyosis congenita, Harlequin foetus type" RELATED OMO:0003005 [] synonym: "ichthyosis congenita, Harlequin type" EXACT [Orphanet:457] synonym: "ichthyosis fetalis, Harlequin type" EXACT [Orphanet:457] synonym: "ichthyosis, congenital, autosomal recessive 4B" RELATED [MONDO:Lexical, OMIM:242500] @@ -176548,6 +179877,7 @@ synonym: "ciliary dyskinesia, primary, type 31" EXACT [MONDORULE:2, OMIM:616369] synonym: "jejunal atresia with microcephaly and ocular anomalies" EXACT [DOID:0110595, OMIM:243605] synonym: "jejunal atresia-microcephaly-ocular anomalies syndrome" EXACT [Orphanet:506307] synonym: "lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome" EXACT [DOID:0110595] +synonym: "lethal foetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome" EXACT OMO:0003005 [] synonym: "primary ciliary dyskinesia 31" EXACT DEPRECATED [DOID:0110595] synonym: "Stromme syndrome" EXACT [OMIM:243605] synonym: "STROMS" RELATED ABBREVIATION [OMIM:243605] @@ -178822,15 +182152,20 @@ name: thiamine-responsive megaloblastic anemia syndrome def: "Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness." [Orphanet:49827] subset: gard_rare {source="GARD:0009210"} subset: ordo_disease {source="Orphanet:49827"} +synonym: "megaloblastic anaemia thiamine-responsive with diabetes mellitus and sensorineural deafness" RELATED OMO:0003005 [] synonym: "megaloblastic anemia thiamine-responsive with diabetes mellitus and sensorineural deafness" RELATED [GARD:0009210] synonym: "megaloblastic Anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness" RELATED [OMIM:249270] synonym: "Rogers syndrome" EXACT [DOID:0090117, Orphanet:49827] synonym: "thiamine metabolism dysfunction syndrome 1" EXACT [DOID:0090117] synonym: "thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus and deafness type)" EXACT [DOID:0090117] synonym: "thiamine metabolism dysfunction syndrome 1 (megaloblastic Anemia, diabetes mellitus, and deafness type)" RELATED [OMIM:249270] +synonym: "thiamine responsive megaloblastic anaemia syndrome" RELATED OMO:0003005 [] synonym: "thiamine responsive megaloblastic anemia syndrome" RELATED [GARD:0009210] +synonym: "thiamine-responsive Anaemia syndrome" RELATED OMO:0003005 [] +synonym: "thiamine-responsive anaemia syndrome" EXACT OMO:0003005 [] synonym: "thiamine-responsive Anemia syndrome" RELATED [OMIM:249270] synonym: "thiamine-responsive anemia syndrome" EXACT [DOID:0090117] +synonym: "thiamine-responsive megaloblastic anaemia with diabetes mellitus and sensorineural deafness" EXACT OMO:0003005 [] synonym: "thiamine-responsive megaloblastic anemia syndrome" EXACT [MONDO:Lexical, OMIM:249270] synonym: "thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness" EXACT [DOID:0090117, Orphanet:49827] synonym: "thiamine-responsive myelodysplasia" EXACT [DOID:0090117, OMIM:249270] @@ -179604,6 +182939,7 @@ synonym: "cblG" RELATED [GARD:0003577] synonym: "functional methionine synthase deficiency type cblG" EXACT [Orphanet:2170] synonym: "HMAG" RELATED ABBREVIATION [MONDO:Lexical, OMIM:250940] synonym: "homocystinuria due to defect in methylation Cbl g" RELATED [GARD:0002733] +synonym: "homocystinuria-megaloblastic Anaemia due to defect in cobalamin metabolism, cblG complementation type" RELATED OMO:0003005 [] synonym: "homocystinuria-megaloblastic Anemia due to defect in cobalamin metabolism, cblG complementation type" RELATED [OMIM:250940] synonym: "homocystinuria-megaloblastic anemia, cblG complementation type" RELATED [GARD:0003577, MONDO:Lexical, OMIM:250940] synonym: "methionine synthase deficiency" RELATED [OMIM:250940] @@ -180280,6 +183616,9 @@ subset: ordo_disease {source="Orphanet:2290"} synonym: "congenital familial protracted diarrhea" RELATED [GARD:0007039] synonym: "congenital familial protracted diarrhea with enterocyte Brush-border abnormalities" RELATED [OMIM:251850] synonym: "congenital familial protracted diarrhea with enterocyte brush-border abnormalities" EXACT [DOID:0060775] +synonym: "congenital familial protracted diarrhoea" RELATED OMO:0003005 [] +synonym: "congenital familial protracted diarrhoea with enterocyte Brush-border abnormalities" RELATED OMO:0003005 [] +synonym: "congenital familial protracted diarrhoea with enterocyte brush-border abnormalities" EXACT OMO:0003005 [] synonym: "congenital microvillous atrophy" EXACT [Orphanet:2290] synonym: "congenital microvillus atrophy" EXACT [DOID:0060775, Orphanet:2290] synonym: "Davidson disease" EXACT [DOID:0060775, OMIM:251850] @@ -180287,15 +183626,20 @@ synonym: "Davidson's disease" RELATED [GARD:0007039] synonym: "DIAR2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:251850] synonym: "diarrhea 2 with microvillus atrophy" EXACT [DOID:0060775] synonym: "diarrhea 2, with microvillus atrophy" RELATED [MONDO:Lexical, OMIM:251850] +synonym: "diarrhoea 2 with microvillus atrophy" EXACT OMO:0003005 [] +synonym: "diarrhoea 2, with microvillus atrophy" RELATED OMO:0003005 [] synonym: "familial enteropathy, microvillus" RELATED [GARD:0007039] synonym: "intractable diarrhea of infancy" RELATED [DOID:0060775, OMIM:251850] +synonym: "intractable diarrhoea of infancy" RELATED OMO:0003005 [] synonym: "microvillous inclusion disease" EXACT [Orphanet:2290] synonym: "microvillus atrophy, congenital" RELATED [OMIM:251850] synonym: "microvillus inclusion disease" EXACT CLINGEN_PREFERRED [OMIM:251850] synonym: "MVD" EXACT ABBREVIATION [DOID:0060775] synonym: "MVID" EXACT ABBREVIATION [Orphanet:2290] synonym: "MYO5B secretory diarrhea" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +synonym: "MYO5B secretory diarrhoea" EXACT OMO:0003005 [] synonym: "secretory diarrhea caused by mutation in MYO5B" EXACT [MONDO:design_pattern] +synonym: "secretory diarrhoea caused by mutation in MYO5B" EXACT OMO:0003005 [] xref: DOID:0060775 {source="MONDO:equivalentTo"} xref: ICD10CM:P78.3 {source="DOID:0060775", source="Orphanet:2290", source="Orphanet:2290/attributed", source="Orphanet:2290/ntbt"} xref: ICD9:579.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -180496,6 +183840,7 @@ name: monosomy 7 myelodysplasia and leukemia syndrome 1 synonym: "chromosome 7Q deletion" EXACT [OMIM:252270] synonym: "M7MLS1" EXACT ABBREVIATION [OMIM:252270] synonym: "monosomy 7 of bone marrow" EXACT [OMIM:252270] +synonym: "myelodysplasia and leukaemia syndrome with monosomy 7" EXACT OMO:0003005 [] synonym: "myelodysplasia and leukemia syndrome with monosomy 7" EXACT [OMIM:252270] xref: MESH:C565370 {source="MONDO:equivalentTo"} xref: NCIT:C176908 {source="MONDO:equivalentTo"} @@ -180689,6 +184034,7 @@ subset: gard_rare subset: ordo_etiological_subtype {source="Orphanet:79269"} synonym: "heparan sulfamidase deficiency" EXACT [Orphanet:79269] synonym: "heparan sulfate sulfatase deficiency" RELATED [OMIM:252900] +synonym: "heparan sulphate sulfatase deficiency" RELATED OMO:0003005 [] synonym: "heparane sulfamidase deficiency" RELATED [GARD:0002649] synonym: "MPS 3A" RELATED [OMIM:252900] synonym: "MPS III A" EXACT [NCIT:C84897] @@ -181302,6 +184648,7 @@ synonym: "Kugelberg-Welander disease" EXACT [DOID:12376, ICD9CM:335.11, Orphanet synonym: "Kugelberg-Welander syndrome" RELATED [GARD:0000198, OMIM:253400] synonym: "KWS" RELATED ABBREVIATION [GARD:0000198] synonym: "muscular atrophy, juvenile" RELATED [GARD:0000198, OMIM:253400] +synonym: "paediatric spinal muscular atrophy" RELATED OMO:0003005 [] synonym: "pediatric spinal muscular atrophy" RELATED [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "proximal spinal muscular atrophy type 3" RELATED [Orphanet:83419] synonym: "SMA 3" RELATED [GARD:0000198] @@ -182398,7 +185745,9 @@ subset: ordo_disease {source="Orphanet:2020"} synonym: "CFTDM" EXACT ABBREVIATION [Orphanet:2020] synonym: "congenital fiber type disproportion" RELATED [GARD:0006161] synonym: "congenital fiber-type disproportion" EXACT [NCIT:C120046] +synonym: "congenital fibre type disproportion" RELATED OMO:0003005 [] synonym: "congenital myopathy with fiber type disproportion" EXACT [https://orcid.org/0000-0002-8169-9049, OMOP:4347282, SCTID:240084007] +synonym: "congenital myopathy with fibre type disproportion" EXACT OMO:0003005 [] synonym: "myopathy, congenital with fiber-type disproportion" RELATED [GARD:0006161] xref: DOID:0080102 {source="MONDO:equivalentTo"} xref: ICD10CM:G71.2 {source="Orphanet:2020/ntbt", source="Orphanet:2020/inclusion", source="Orphanet:2020"} @@ -182490,6 +185839,7 @@ synonym: "autosomal recessive myotonia congenita" EXACT [MONDO:design_pattern] synonym: "Becker disease" RELATED [OMIM:255700] synonym: "myotonia congenita, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive, OMIM:255700] synonym: "myotonia congenita, recessive" EXACT [OMIM:255700, OMIM:genemap2] +synonym: "myotonia, generalised" RELATED OMO:0003005 [] synonym: "myotonia, generalized" RELATED [OMIM:255700] xref: OMIM:255700 {source="MONDO:equivalentTo"} xref: Orphanet:614 {source="OMIM:255700"} @@ -182798,6 +186148,7 @@ synonym: "chronic atypical neutrophilic dermatosis with lipodystrophy and elevat synonym: "chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome" EXACT [OMIM:256040] synonym: "chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome" EXACT [GARD:0010811, Orphanet:325004] synonym: "JMP syndrome" EXACT [MONDO:0017959] +synonym: "Joint contractures - muscle atrophy - microcytic anaemia - panniculitis-induced lipodystrophy" EXACT OMO:0003005 [] synonym: "Joint contractures - muscle atrophy - microcytic anemia - panniculitis-induced lipodystrophy" EXACT [GARD:0010988] synonym: "Joint contractures, muscular atrophy, microcytic Anemia, and panniculitis-induced lipodystrophy" EXACT [OMIM:256040] synonym: "joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy" EXACT [DOID:0050553] @@ -183754,6 +187105,7 @@ subset: gard_rare subset: ordo_clinical_subtype {source="Orphanet:79486"} synonym: "cystic hygroma" EXACT [DOID:3081, NCIT:C3724] synonym: "cystic hygroma, fetal" RELATED [OMIM:257350] +synonym: "cystic hygroma, foetal" RELATED OMO:0003005 [] synonym: "cystic lymphangioma" EXACT [GARD:0006234, NCIT:C3724] synonym: "hygroma" EXACT [NCIT:C3724] synonym: "macrocystic lymphatic malformation" RELATED [GARD:0006234] @@ -184121,9 +187473,11 @@ synonym: "micromelic dysplasia-dislocation of radius syndrome" EXACT [Orphanet:9 synonym: "OMOD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:258315] synonym: "omodysplasia 1" RELATED [MONDO:Lexical, OMIM:258315] synonym: "omodysplasia autosomal recessive" RELATED [GARD:0004076] +synonym: "omodysplasia generalised form" RELATED OMO:0003005 [] synonym: "omodysplasia generalized form" RELATED [GARD:0004076] synonym: "omodysplasia type 1" EXACT [MONDORULE:1, OMIM:258315] synonym: "omodysplasia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive, OMIM:258315] +synonym: "omodysplasia, generalised form" RELATED OMO:0003005 [] synonym: "omodysplasia, generalized form" RELATED [OMIM:258315] xref: DOID:0080844 {source="MONDO:equivalentTo"} xref: ICD10CM:Q78.8 {source="Orphanet:93329/attributed", source="Orphanet:93329/ntbt", source="Orphanet:93329"} @@ -184320,6 +187674,7 @@ subset: predisposition synonym: "Naion, susceptibility to" RELATED [OMIM:258660] synonym: "nonarteritic anterior ischemic optic neuropathy, susceptibility to" EXACT [OMIM:258660] synonym: "optic neuropathy, anterior ischemic, susceptibility to" RELATED [OMIM:258660] +synonym: "susceptibility to nonarteritic anterior ischaemic optic neuropathy" RELATED OMO:0003005 [] synonym: "susceptibility to nonarteritic anterior ischemic optic neuropathy" RELATED [OMIM:258660] xref: OMIM:258660 {source="MONDO:equivalentTo"} xref: UMLS:C1847711 {source="OMIM:258660", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -184540,6 +187895,7 @@ synonym: "orotic aciduria" EXACT [OMIM:258900] synonym: "orotic aciduria 1" RELATED [OMIM:258900] synonym: "orotic aciduria II (formerly)" RELATED [GARD:0005429] synonym: "orotic aciduria type 1" RELATED [GARD:0005429] +synonym: "orotic aciduria without megaloblastic Anaemia" RELATED OMO:0003005 [] synonym: "orotic aciduria without megaloblastic Anemia" RELATED [OMIM:258900] synonym: "oroticaciduria" EXACT [Orphanet:30] synonym: "oroticaciduria 1" RELATED [GARD:0005429] @@ -185357,6 +188713,7 @@ synonym: "pancreas neoplasm" BROAD [DOID:1793] synonym: "pancreatic cancer" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "pancreatic neoplasm" RELATED EXCLUDE [DOID:1793] synonym: "pancreatic tumor" RELATED EXCLUDE [DOID:1793] +synonym: "pancreatic tumour" RELATED OMO:0003005 [] xref: DOID:1793 {source="MONDO:equivalentTo"} xref: EFO:1000359 {source="MONDO:equivalentTo"} xref: ICD10CM:C25.9 {source="MONDO:ICD_NOS"} @@ -185530,6 +188887,7 @@ synonym: "choroid plexus papilloma" EXACT [MONDO:patterns/location, NCIT:C3698, synonym: "choroid plexus papilloma NOS (morphologic abnormality)" NARROW [DOID:2626] synonym: "choroid plexus papilloma, no ICD-O subtype" EXACT [DOID:2626] synonym: "CPP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:260500, Orphanet:2807] +synonym: "paediatric papilloma of choroid plexus" NARROW OMO:0003005 [] synonym: "papilloma of choroid plexus" RELATED [MONDO:Lexical, NCIT:C3698, OMIM:260500] synonym: "papilloma of the choroid plexus" EXACT [DOID:2626, NCIT:C3698] synonym: "papilloma, choroid plexus, benign" RELATED [NCIT:C3698] @@ -185846,9 +189204,12 @@ name: hereditary intrinsic factor deficiency def: "Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities." [Orphanet:332] subset: ordo_disease {source="Orphanet:332"} synonym: "congenital intrinsic factor deficiency" EXACT [Orphanet:332] +synonym: "congenital pernicious anaemia" EXACT OMO:0003005 [] +synonym: "congenital pernicious anaemia due to defect of intrinsic factor" RELATED OMO:0003005 [] synonym: "congenital pernicious anemia" EXACT [Orphanet:332] synonym: "congenital pernicious anemia due to defect of intrinsic factor" RELATED [GARD:0003024] synonym: "gastric intrinsic factor deficiency" EXACT [Orphanet:332] +synonym: "hereditary juvenile megaloblastic anaemia due to intrinsic factor deficiency" EXACT OMO:0003005 [] synonym: "hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency" EXACT [Orphanet:332] synonym: "IFD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:261000, Orphanet:332] synonym: "intrinsic factor deficiency" BROAD [MONDO:Lexical, OMIM:261000, Orphanet:332] @@ -185880,10 +189241,12 @@ def: "Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) mal subset: ordo_disease {source="Orphanet:35858"} synonym: "defect of enterocyte intrinsic factor receptor" RELATED [GARD:0007006] synonym: "enterocyte cobalamin malabsorption" RELATED [OMIM:261100] +synonym: "familial megaloblastic anaemia" EXACT OMO:0003005 [] synonym: "familial megaloblastic anemia" EXACT [Orphanet:35858] synonym: "Gräsbeck-Imerslund disease" RELATED [Orphanet:35858] synonym: "Imerslund-Grasbeck syndrome" EXACT [OMIM:261100] synonym: "Imerslund-Gräsbeck syndrome" EXACT [NCIT:C131677] +synonym: "juvenile megaloblastic Anaemia" EXACT OMO:0003005 [] synonym: "juvenile megaloblastic Anemia" EXACT [NCIT:C131677] synonym: "selective cobalamin malabsorption with proteinuria" EXACT [Orphanet:35858] xref: ICD10CM:D51.1 {source="Orphanet:35858/attributed", source="Orphanet:35858/ntbt", source="Orphanet:35858"} @@ -187453,6 +190816,8 @@ subset: gard_rare {source="GARD:0004552"} subset: ordo_clinical_subtype {source="Orphanet:171876"} synonym: "autosomal recessive PHA 1" EXACT [DOID:0060854] synonym: "autosomal recessive pseudohypoaldosteronism type 1" EXACT [Orphanet:171876] +synonym: "generalised PHA1" RELATED OMO:0003005 [] +synonym: "generalised pseudohypoaldosteronism type 1" RELATED OMO:0003005 [] synonym: "generalized PHA1" RELATED [GARD:0004552] synonym: "generalized pseudohypoaldosteronism type 1" RELATED [GARD:0004552] synonym: "PHA I, autosomal recessive" RELATED [OMIM:264350] @@ -187909,8 +191274,11 @@ synonym: "congenital alveolar capillary dysplasia" EXACT [GARD:0008644, MESH:C53 synonym: "congenital alveolar capillary dysplasia with misalignment of pulmonary veins" EXACT [DOID:13042] synonym: "familial persistent pulmonary hypertension of the newborn" RELATED [GARD:0008644] synonym: "fetal circulation" EXACT [DOID:13042] +synonym: "foetal circulation" EXACT OMO:0003005 [] synonym: "persistent fetal circulation" RELATED [DOID:13042, ICD9CM:747.83] synonym: "persistent fetal circulation syndrome" RELATED EXCLUDE [DOID:13042] +synonym: "persistent foetal circulation" RELATED OMO:0003005 [] +synonym: "persistent foetal circulation syndrome" RELATED OMO:0003005 [] synonym: "persistent pulmonary hypertension of the newborn" RELATED [DOID:13042] synonym: "pulmonary hypertension, familial persistent of the newborn" RELATED [GARD:0008644] xref: DOID:13042 {source="EFO:1001103", source="MONDO:equivalentTo"} @@ -188068,6 +191436,7 @@ name: pyknoachondrogenesis def: "Pyknoachondrogenesis is a lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis." [Orphanet:3003] subset: gard_rare {source="GARD:0004610"} subset: ordo_malformation_syndrome {source="Orphanet:3003"} +synonym: "association of skeletal defects resembling achondrogenesis with generalised bone sclerosis" RELATED OMO:0003005 [] synonym: "association of skeletal defects resembling achondrogenesis with generalized bone sclerosis" RELATED [GARD:0004610] synonym: "camera syndrome" EXACT [Orphanet:3003] synonym: "pyknoachondrogenesis" EXACT [OMIM:265880] @@ -188158,13 +191527,17 @@ name: hemolytic anemia due to pyrimidine 5' nucleotidase deficiency def: "Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency is a rare, hereditary, hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by mild to moderate hemolytic anemia associated with basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Patients present with variable features of jaundice, splenomegaly, hepatomegaly, gallstones, and sometimes require transfusions. Rare cases of mild development delay and learning difficulties are reported." [Orphanet:35120] subset: ordo_disease {source="Orphanet:35120"} synonym: "anemia, hemolytic, due to UMPH1 deficiency" EXACT [OMIM:266120, OMIM:genemap2] +synonym: "hemolytic Anaemia due to P5N deficiency" RELATED OMO:0003005 [] +synonym: "hemolytic Anaemia due to Umph1 deficiency" RELATED OMO:0003005 [] synonym: "hemolytic Anemia due to P5N deficiency" RELATED [OMIM:266120] synonym: "hemolytic Anemia due to Umph1 deficiency" RELATED [OMIM:266120] synonym: "P5N deficiency" EXACT [OMIM:266120, Orphanet:35120] +synonym: "pyrimidine 5-prime Nucleotidase deficiency, hemolytic Anaemia due to" RELATED OMO:0003005 [] synonym: "pyrimidine 5-prime Nucleotidase deficiency, hemolytic Anemia due to" RELATED [OMIM:266120] synonym: "UMPH1 deficiency" EXACT [Orphanet:35120] synonym: "Umph1 deficiency" RELATED [OMIM:266120] synonym: "uridine 5'-monophosphate hydrolase deficiency" EXACT [Orphanet:35120] +synonym: "uridine 5-prime monophosphate hydrolase deficiency, hemolytic anaemia due to" RELATED OMO:0003005 [] synonym: "uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to" RELATED [OMIM:266120] xref: ICD10CM:D55.3 {source="Orphanet:35120", source="Orphanet:35120/attributed", source="Orphanet:35120/ntbt"} xref: MESH:C564859 {source="MONDO:equivalentTo"} @@ -188259,6 +191632,8 @@ id: MONDO:0009950 name: pyruvate kinase deficiency of red cells def: "Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia." [Orphanet:766] subset: ordo_disease {source="Orphanet:766"} +synonym: "hemolytic Anaemia due to pyruvate Kinase deficiency" EXACT OMO:0003005 [] +synonym: "hemolytic anaemia due to red cell pyruvate kinase deficiency" EXACT OMO:0003005 [] synonym: "hemolytic Anemia due to pyruvate Kinase deficiency" EXACT [NCIT:C99037] synonym: "hemolytic anemia due to red cell pyruvate kinase deficiency" EXACT [DOID:0111077] synonym: "PK deficiency" EXACT [DOID:0111077] @@ -188306,6 +191681,8 @@ synonym: "Der Kaloustian-McIntosh-Silver syndrome" EXACT [Orphanet:3270] synonym: "radioulnar synostosis with developmental delay and hypotonia syndrome" EXACT [] synonym: "radioulnar synostosis, unilateral, with developintellectual disability and hypotonia" RELATED [OMIM:266255] synonym: "radioulnar synostosis, unilateral, with developmental retardation and hypotonia" RELATED DEPRECATED [OMIM:266255] +synonym: "unilateral radio-ulnar synostosis, generalised hypotonia, developintellectual disability, and a characteristic facial appearance" RELATED OMO:0003005 [] +synonym: "unilateral radio-ulnar synostosis, generalised hypotonia, developmental retardation, and a characteristic facial appearance" RELATED OMO:0003005 [] synonym: "unilateral radio-ulnar synostosis, generalized hypotonia, developintellectual disability, and a characteristic facial appearance" RELATED [GARD:0001810] synonym: "unilateral radio-ulnar synostosis, generalized hypotonia, developmental retardation, and a characteristic facial appearance" RELATED DEPRECATED [GARD:0001810] xref: ICD10CM:Q87.8 {source="Orphanet:3270/attributed", source="Orphanet:3270/ntbt", source="Orphanet:3270"} @@ -188545,9 +191922,11 @@ synonym: "inflammatory bowel disease 1, Crohn disease" EXACT [OMIM:266600, OMIM: synonym: "inflammatory bowel disease caused by mutation in NOD2" EXACT [] synonym: "inflammatory bowel disease type 1" EXACT [DOID:0110892, MONDORULE:1, OMIM:266600] synonym: "NOD2 inflammatory bowel disease" EXACT [MONDO:patterns/disease_series_by_gene] +synonym: "paediatric ulcerative colitis" RELATED OMO:0003005 [] synonym: "pediatric ulcerative colitis" RELATED [GARD:0009857] synonym: "regional enteritis" RELATED [OMIM:266600] synonym: "ulcerative colitis" RELATED [OMIM:266600] +synonym: "ulcerative colitis, paediatric" RELATED OMO:0003005 [] synonym: "ulcerative colitis, pediatric" RELATED [GARD:0009857] xref: DOID:0110892 {source="MONDO:equivalentTo"} xref: ICD9:555.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -188664,14 +192043,21 @@ def: "Perlman syndrome is characterized principally by polyhydramnios, neonatal subset: gard_rare {source="GARD:0003936"} subset: ordo_malformation_syndrome {source="Orphanet:2849"} synonym: "nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor" EXACT [DOID:0060476] +synonym: "nephroblastomatosis - foetal ascites - macrosomia - Wilms tumour" EXACT OMO:0003005 [] synonym: "nephroblastomatosis fetal ascites macrosomia and Wilms tumor" RELATED [GARD:0003936] +synonym: "nephroblastomatosis foetal ascites macrosomia and Wilms tumour" RELATED OMO:0003005 [] synonym: "nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor" EXACT [DOID:0060476] synonym: "nephroblastomatosis, fetal ascites, macrosomia, and Wilms tumor" RELATED [OMIM:267000] +synonym: "nephroblastomatosis, foetal ascites, macrosomia and Wilms tumour" EXACT OMO:0003005 [] +synonym: "nephroblastomatosis, foetal ascites, macrosomia, and Wilms tumour" RELATED OMO:0003005 [] synonym: "nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome" EXACT [Orphanet:2849] +synonym: "nephroblastomatosis-fetal ascites-macrosomia-Wilms tumour syndrome" EXACT OMO:0003005 [] synonym: "Perlman syndrome" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:267000] synonym: "PRLMNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:267000] synonym: "renal hamartomas, nephroblastomatosis and fetal gigantism" EXACT [DOID:0060476] +synonym: "renal hamartomas, nephroblastomatosis and foetal gigantism" EXACT OMO:0003005 [] synonym: "renal hamartomas, nephroblastomatosis, and fetal gigantism" RELATED [OMIM:267000] +synonym: "renal hamartomas, nephroblastomatosis, and foetal gigantism" RELATED OMO:0003005 [] xref: DOID:0060476 {source="MONDO:equivalentTo"} xref: ICD10CM:Q87.3 {source="DOID:0060476", source="Orphanet:2849/attributed", source="Orphanet:2849/ntbt", source="Orphanet:2849"} xref: MESH:C536399 {source="DOID:0060476", source="MONDO:equivalentTo"} @@ -188864,7 +192250,9 @@ synonym: "congenital Aleukia" RELATED [OMIM:267500] synonym: "congenital aleukocytosis" EXACT [Orphanet:33355] synonym: "De Vaal disease" EXACT [DOID:0060020, OMIM:267500, Orphanet:33355] synonym: "DeVaal disease" RELATED [GARD:0008625] +synonym: "generalised haematopoietic hypoplasia" EXACT OMO:0003005 [] synonym: "generalized hematopoietic hypoplasia" EXACT [Orphanet:33355] +synonym: "haematopoietic hypoplasia, generalised" RELATED OMO:0003005 [] synonym: "hematopoietic hypoplasia, generalized" RELATED [OMIM:267500] synonym: "RD" RELATED ABBREVIATION [GARD:0008625] synonym: "reticular Dysgenesia" RELATED [OMIM:267500] @@ -189262,6 +192650,7 @@ synonym: "alveolar rhabdomyosarcoma (disease)" EXACT [https://orcid.org/0000-000 synonym: "alveolar rhabdomyosarcoma (morphologic abnormality)" EXACT [DOID:4051] synonym: "arms" EXACT [NCIT:C3749] synonym: "monomorphous round cell rhabdomyosarcoma" EXACT [NCIT:C3749] +synonym: "paediatric alveolar rhabdomyosarcoma" EXACT OMO:0003005 [] synonym: "pediatric alveolar rhabdomyosarcoma" EXACT [DOID:4051, NCIT:C7958] synonym: "rhabdomyosarcoma 2" RELATED [MONDO:Lexical, OMIM:268220] synonym: "rhabdomyosarcoma 2, alveolar, somatic mutation" EXACT [OMIM:268220, OMIM:genemap2] @@ -189913,9 +193302,11 @@ synonym: "Berardinelli-Seip congenital lipodystrophy, type 2" RELATED [OMIM:2697 synonym: "Berardinelli-Seip syndrome" EXACT [DOID:0111136] synonym: "Brunzell syndrome BSCL2-related" EXACT [DOID:0111136] synonym: "Brunzell syndrome, BSCL2-related" RELATED [OMIM:269700] +synonym: "BSCL2 congenital generalised lipodystrophy (disease)" EXACT OMO:0003005 [] synonym: "BSCL2 congenital generalized lipodystrophy (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "BSCL2-related Brunzell syndrome" RELATED [GARD:0010212] synonym: "CGL2" EXACT ABBREVIATION [DOID:0111136, MONDO:Lexical, OMIM:269700] +synonym: "congenital generalised lipodystrophy (disease) caused by mutation in BSCL2" EXACT OMO:0003005 [] synonym: "congenital generalized lipodystrophy (disease) caused by mutation in BSCL2" EXACT [] synonym: "congenital lipoatrophic diabetes" EXACT [DOID:0111136] synonym: "lipoatrophic diabetes, congenital" RELATED [OMIM:269700] @@ -190263,6 +193654,8 @@ id: MONDO:0010033 name: generalized peeling skin syndrome def: "Generalized peeling skin syndrome (PSS) is a form of PSS presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form. PSS type A is characterized by generalized white scaling with superficial peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, associated with pruritus, and atopy." [Orphanet:263543] subset: ordo_disease {source="Orphanet:263543"} +synonym: "generalised deciduous skin" EXACT OMO:0003005 [] +synonym: "generalised PSS" EXACT OMO:0003005 [] synonym: "generalized deciduous skin" EXACT [Orphanet:263543] synonym: "generalized PSS" EXACT [Orphanet:263543] synonym: "peeling skin syndrome 1" RELATED [MONDO:Lexical, OMIM:270300] @@ -190339,12 +193732,19 @@ def: "Any secretory diarrhea in which the cause of the disease is a mutation in synonym: "congenital secretory sodium diarrhea 3 syndromic" EXACT [DOID:0060781] synonym: "congenital secretory sodium diarrhea 3 with or without other congenital anomalies" EXACT [DOID:0060781] synonym: "congenital secretory sodium diarrhea type 3" EXACT [DOID:0060781, MONDORULE:1] +synonym: "congenital secretory sodium diarrhoea 3 syndromic" EXACT OMO:0003005 [] +synonym: "congenital secretory sodium diarrhoea 3 with or without other congenital anomalies" EXACT OMO:0003005 [] +synonym: "congenital secretory sodium diarrhoea type 3" EXACT OMO:0003005 [] synonym: "DIAR3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:270420] synonym: "diarrhea 3, secretory sodium, congenital, syndromic" RELATED [OMIM:270420] synonym: "diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies" RELATED [MONDO:Lexical, OMIM:270420] +synonym: "diarrhoea 3, secretory sodium, congenital, syndromic" RELATED OMO:0003005 [] +synonym: "diarrhoea 3, secretory sodium, congenital, with or without other congenital anomalies" RELATED OMO:0003005 [] synonym: "secretory diarrhea caused by mutation in SPINT2" EXACT [MONDO:design_pattern] +synonym: "secretory diarrhoea caused by mutation in SPINT2" EXACT OMO:0003005 [] synonym: "sodium diarrhea, congenital" RELATED [OMIM:270420] synonym: "SPINT2 secretory diarrhea" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +synonym: "SPINT2 secretory diarrhoea" EXACT OMO:0003005 [] xref: DOID:0060781 {source="MONDO:equivalentTo"} xref: ICD10CM:P78.3 {source="DOID:0060781"} xref: OMIM:270420 {source="DOID:0060781", source="MONDO:equivalentTo"} @@ -190577,6 +193977,7 @@ synonym: "spastic paraparesis-vitiligo-premature graying-characteristic facies s synonym: "spastic paraplegia 23" EXACT [DOID:0110774, MONDO:Lexical, OMIM:270750] synonym: "spastic paraplegia and pigmentary abnormalities" RELATED [GARD:0000336] synonym: "spastic paraplegia vitiligo premature graying and characteristic facies" RELATED [GARD:0000336] +synonym: "spastic paraplegia vitiligo premature greying and characteristic facies" RELATED OMO:0003005 [] synonym: "spastic paraplegia with pigmentary abnormalities" EXACT [DOID:0110774, OMIM:270750] synonym: "SPG 23" RELATED [GARD:0000336] synonym: "SPG23" EXACT ABBREVIATION [DOID:0110774, MONDO:Lexical, OMIM:270750, Orphanet:101003] @@ -190944,6 +194345,7 @@ subset: ordo_disease {source="Orphanet:2572"} synonym: "Bedouin spastic ataxia syndrome" EXACT [OMIM:271320, Orphanet:2572] synonym: "Mousa Al din Al Nassar syndrome" RELATED [GARD:0003795] synonym: "Mousa-Al Din-Al Nassar syndrome" EXACT [Orphanet:2572] +synonym: "spastic ataxia, macular corneal dystrophy, congenital cataracts, myopia and vertically oval temporally tilted discs" RELATED OMO:0003005 [] synonym: "spastic ataxia, macular corneal dystrophy, congenital cataracts, myopia and vertically oval temporally tilted disks" RELATED [GARD:0003795] synonym: "spastic ataxia-ocular anomalies syndrome" EXACT [Orphanet:2572] synonym: "spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia" RELATED [OMIM:271320] @@ -191126,7 +194528,9 @@ name: brachyolmia type 1, toledo type synonym: "BCYM1B" EXACT ABBREVIATION [MONDO:Lexical, OMIM:271630] synonym: "brachyolmia type 1, Toledo type" RELATED [MONDO:Lexical, OMIM:271630] synonym: "PAPS-chondroitin sulfate sulfotransferase deficiency" RELATED [OMIM:271630] +synonym: "PAPS-chondroitin sulphate sulfotransferase deficiency" RELATED OMO:0003005 [] synonym: "Sed, chondroitin sulfate type" RELATED [OMIM:271630] +synonym: "Sed, chondroitin sulphate type" RELATED OMO:0003005 [] synonym: "spondyloepiphyseal dysplasia tarda, Toledo type" RELATED [OMIM:271630] xref: MESH:C535787 {source="MONDO:equivalentTo"} xref: OMIM:271630 {source="MONDO:equivalentTo"} @@ -191869,14 +195273,19 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:363504"} synonym: "embryonal cell carcinoma" RELATED [OMIM:273300] synonym: "endodermal sinus tumor" RELATED [OMIM:273300] +synonym: "endodermal sinus tumour" RELATED OMO:0003005 [] synonym: "germ cell neoplasm of testis" EXACT [NCIT:C8591] synonym: "germ cell neoplasm of the testis" EXACT [NCIT:C8591] synonym: "germ cell tumor of testis" EXACT [DOID:5557, MONDO:0018196, NCIT:C8591] synonym: "germ cell tumor of the testis" EXACT [NCIT:C8591] synonym: "germ cell tumors, somatic" EXACT [OMIM:273300, OMIM:genemap2] +synonym: "germ cell tumour of testis" EXACT OMO:0003005 [] +synonym: "germ cell tumour of the testis" EXACT OMO:0003005 [] synonym: "Male germ cell tumor" RELATED [OMIM:273300] synonym: "male germ cell tumor, somatic" EXACT [OMIM:273300, OMIM:genemap2] +synonym: "Male germ cell tumour" RELATED OMO:0003005 [] synonym: "nonseminomatous germ cell tumors" RELATED [OMIM:273300] +synonym: "nonseminomatous germ cell tumours" RELATED OMO:0003005 [] synonym: "seminoma" RELATED [OMIM:273300] synonym: "spermatocytic seminoma" RELATED [OMIM:273300] synonym: "spermatocytic seminoma, somatic" EXACT [OMIM:273300, OMIM:genemap2] @@ -191887,6 +195296,7 @@ synonym: "testicular germ cell neoplasms" EXACT [NCIT:C8591] synonym: "testicular germ cell tumor" EXACT [MONDO:Lexical, NCIT:C8591, OMIM:273300, Orphanet:363504] synonym: "testicular tumor, somatic" EXACT [OMIM:273300, OMIM:genemap2] synonym: "testis germ cell tumor" EXACT [MONDO:patterns/location] +synonym: "testis germ cell tumour" EXACT OMO:0003005 [] synonym: "TGCT" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C8591, OMIM:273300] xref: DOID:5557 {source="MONDO:equivalentTo"} xref: EFO:1000566 {source="MONDO:equivalentTo"} @@ -192176,6 +195586,7 @@ synonym: "congenital thrombotic thrombocytopenic purpura" EXACT CLINGEN_PREFERRE synonym: "congenital TTP" EXACT [Orphanet:93583] synonym: "familial TTP" EXACT [Orphanet:93583] synonym: "hereditary thrombotic thrombocytopenic purpura" EXACT [MONDO:patterns/hereditary] +synonym: "Microangiopathic hemolytic Anaemia" RELATED OMO:0003005 [] synonym: "Microangiopathic hemolytic Anemia" RELATED [OMIM:274150] synonym: "Microangiopathic hemolytic Anemia, congenital" RELATED [OMIM:274150] synonym: "Schulman-Upshaw syndrome" RELATED [OMIM:274150] @@ -192435,8 +195846,10 @@ def: "Pendred syndrome (PDS) is a clinically variable genetic disorder character subset: clingen subset: ordo_malformation_syndrome {source="Orphanet:705"} synonym: "autosomal recessive sensorineural hearing impairment and goiter" RELATED [GARD:0004271] +synonym: "autosomal recessive sensorineural hearing impairment and goitre" RELATED OMO:0003005 [] synonym: "congenital hypothyroidism due to dyshormonogenesis 2B" EXACT [DOID:0060744] synonym: "deafness with goiter" EXACT [DOID:0060744, OMIM:274600] +synonym: "deafness with goitre" EXACT OMO:0003005 [] synonym: "genetic defect in thyroid hormonogenesis 2B" EXACT [DOID:0060744] synonym: "goiter-deafness syndrome" EXACT [DOID:0060744, OMIM:274600, Orphanet:705] synonym: "hypothyroidism, congenital, due to dyshormonogenesis, 2B" EXACT [OMIM:274600] @@ -192996,10 +196409,12 @@ synonym: "childhood cancer syndrome" RELATED [OMIM:276300] synonym: "CMMR-D" EXACT [NCIT:C130202] synonym: "CMMR-D syndrome" EXACT [Orphanet:252202] synonym: "CNS tumors with familial polyposis of the colon" RELATED [GARD:0000420] +synonym: "CNS tumours with familial polyposis of the colon" RELATED OMO:0003005 [] synonym: "constitutional MIS-match repair deficiency syndrome" EXACT [NCIT:C130202] synonym: "constitutional mismatch repair deficiency syndrome" EXACT [NCIT:C130202, OMIM:276300] synonym: "glioma-polyposis syndrome" RELATED [GARD:0000420] synonym: "malignant tumors of the central nervous system associated with familial polyposis of the colon" RELATED [GARD:0000420] +synonym: "malignant tumours of the central nervous system associated with familial polyposis of the colon" RELATED OMO:0003005 [] synonym: "mismatch repair cancer syndrome" RELATED [MONDO:Lexical, OMIM:276300] synonym: "mismatch repair cancer syndrome 1" EXACT CLINGEN_PREFERRED [] synonym: "mismatch repair deficiency" RELATED [OMIM:276300] @@ -193504,9 +196919,11 @@ id: MONDO:0010177 name: vascular hyalinosis def: "A syndrome characterized by progressive hyalinosis involving capillaries and often arterioles and small veins of the digestive tract, kidneys, and idiopathic cerebral calcifications. It has been described in three sisters born to non-consanguineous parents. All three patients also had poikilodermia and graying hair, as well as severe diarrhea, rectal bleeding, malabsorption and subarachnoid hemorrhage." [Orphanet:3018] subset: ordo_malformation_syndrome {source="Orphanet:3018"} +synonym: "digestive tract and renal small vessel hyalinosis, intracerebral calcifications, retinal ischaemic syndrome and phenotypic a" RELATED OMO:0003005 [] synonym: "digestive tract and renal small vessel hyalinosis, intracerebral calcifications, retinal ischemic syndrome and phenotypic a" RELATED [GARD:0004635] synonym: "Rambaud-Gallian syndrome" EXACT [Orphanet:3018] synonym: "Rambaud-Gallian-Touchard syndrome" EXACT [Orphanet:3018] +synonym: "retinal ischaemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome" EXACT OMO:0003005 [] synonym: "retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome" EXACT [Orphanet:3018] synonym: "vascular hyalinosis" EXACT [OMIM:277175] xref: ICD10CM:E78.8 {source="Orphanet:3018", source="Orphanet:3018/ntbt"} @@ -193760,6 +197177,7 @@ property_value: confidence "1.9999999999999996" xsd:double id: MONDO:0010186 name: vitamin D-dependent rickets, type 2A def: "Rickets caused by a defect in the VDR gene, encoding the vitamin D receptor. This form of rickets is characterized by hypocalcemia, elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations and may also manifest with alopecia." [NCIT:C131075] +synonym: "generalised resistance to 1,25-dihydroxyvitamin D" RELATED OMO:0003005 [] synonym: "generalized resistance to 1,25-dihydroxyvitamin D" RELATED [OMIM:277440] synonym: "hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal vitamin D receptor with alopecia" EXACT [NCIT:C131075] synonym: "hypocalcemic vitamin D-resistant rickets" RELATED [OMIM:277440] @@ -194039,6 +197457,7 @@ id: MONDO:0010196 name: Werner syndrome def: "A rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders." [Orphanet:902] subset: ordo_disease {source="Orphanet:902"} +synonym: "adult premature ageing syndrome" EXACT OMO:0003005 [] synonym: "adult premature aging syndrome" EXACT [DOID:5688] synonym: "adult progeria" EXACT [DOID:5688, Orphanet:902] synonym: "Werner syndrome" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:277700] @@ -194291,6 +197710,7 @@ synonym: "hypotrichosis, localized, autosomal recessive 3" EXACT [DOID:0110705, synonym: "HYPT8" EXACT ABBREVIATION [DOID:0110705, MONDO:Lexical, OMIM:278150] synonym: "LAH3" EXACT ABBREVIATION [DOID:0110705] synonym: "LPAR6 hypotrichosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +synonym: "woolly hair, autosomal recessive 1, with or without hypotrichosis" RELATED OMO:0003005 [] synonym: "wooly hair, autosomal recessive 1, with or without hypotrichosis" RELATED [OMIM:278150] xref: DOID:0110705 {source="MONDO:equivalentTo"} xref: MESH:C566950 {source="MONDO:equivalentTo"} @@ -194312,6 +197732,8 @@ id: MONDO:0010207 name: wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome subset: ordo_malformation_syndrome {source="Orphanet:1409"} synonym: "Salamon syndrome" EXACT [OMIM:278200, Orphanet:1409] +synonym: "woolly hair hypotrichosis everted lower lip and outstanding ears" RELATED OMO:0003005 [] +synonym: "woolly hair, hypotrichosis, everted LOWER LIP, and outstanding ears" RELATED OMO:0003005 [] synonym: "wooly hair hypotrichosis everted lower lip and outstanding ears" RELATED [GARD:0005594] synonym: "wooly hair, hypotrichosis, everted LOWER LIP, and outstanding ears" RELATED [OMIM:278200] synonym: "wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome" EXACT [Orphanet:1409] @@ -195234,8 +198656,10 @@ name: fetal akinesia syndrome, X-linked subset: gard_rare {source="GARD:0002293"} synonym: "fetal akinesia syndrome X-linked" RELATED [GARD:0002293] synonym: "fetal akinesia syndrome, X-linked" EXACT [OMIM:300073] +synonym: "foetal akinesia syndrome X-linked" RELATED OMO:0003005 [] synonym: "polyhydramnios, hypokinesia, brain malformations, telecanthus, and narrow palpebral fissures" RELATED [GARD:0002293] synonym: "X-linked form of fetal akinesia syndrome" RELATED [GARD:0002293] +synonym: "X-linked form of foetal akinesia syndrome" RELATED OMO:0003005 [] xref: DOID:0081043 {source="MONDO:equivalentTo"} xref: MESH:C537921 {source="MONDO:equivalentTo"} xref: OMIM:300073 {source="MONDO:equivalentTo"} @@ -195953,6 +199377,7 @@ id: MONDO:0010274 name: testicular germ cell tumor 1 synonym: "testicular germ cell tumor" BROAD [OMIM:300228, OMIM:genemap2] synonym: "testicular germ cell tumor 1" EXACT [MONDO:Lexical, OMIM:300228] +synonym: "testicular germ cell tumour" BROAD OMO:0003005 [] synonym: "TGCT1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300228] xref: MESH:C564559 {source="MONDO:equivalentTo"} xref: OMIM:300228 {source="MONDO:equivalentTo"} @@ -196835,6 +200260,7 @@ name: thrombocytopenia, X-linked, with or without dyserythropoietic anemia def: "An X-linked condition caused by mutation(s) in the GATA1 gene, encoding erythroid transcription factor. It is characterized by thrombocytopenia, as well as abnormal platelet function and morphology. Dyserythropoietic anemia of variable severity may also be present." [NCIT:C136653] synonym: "thrombocytopenia, X-linked, with or without dyserythropoietic anemia" EXACT [MONDO:Lexical, OMIM:300367] synonym: "thrombocytopenia, X-linked, with or without dyserythropoietic anemia, X-linked recessive" EXACT [OMIM:300367, OMIM:genemap2] +synonym: "X-linked thrombocytopenia, with or without dyserythropoietic Anaemia" EXACT OMO:0003005 [] synonym: "X-linked thrombocytopenia, with or without dyserythropoietic Anemia" EXACT [NCIT:C136653] synonym: "XLTDA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300367] xref: NCIT:C136653 {source="MONDO:equivalentTo"} @@ -197291,6 +200717,7 @@ synonym: "3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency" RELATED [GARD: synonym: "3-hydroxyacyl-CoA dehydrogenase 2 deficiency" EXACT [OMIM:300438] synonym: "3H2MBD deficiency" RELATED [GARD:0010716] synonym: "chorioathetosis with mental retardation and abnormal behavior" EXACT DEPRECATED [OMIM:300220] +synonym: "chorioathetosis with mental retardation and abnormal behaviour" EXACT OMO:0003005 [] synonym: "HSD10 deficiency" EXACT [OMIM:300438, Orphanet:391417] synonym: "HSD10 deficiency, atypical type" NARROW [DOID:0060810, Orphanet:85295] synonym: "HSD10 mitochondrial disease" EXACT CLINGEN_PREFERRED [OMIM:300438] @@ -197299,6 +200726,7 @@ synonym: "HSD10MD" EXACT ABBREVIATION [OMIM:300438] synonym: "HSD17B10 deficiency" EXACT [OMIM:300438] synonym: "hydroxyacyl-CoA dehydrogenase II deficiency" RELATED [GARD:0010716] synonym: "mental retardation with chorioathetosis and abnormal behavior" EXACT DEPRECATED [OMIM:300220] +synonym: "mental retardation with chorioathetosis and abnormal behaviour" EXACT OMO:0003005 [] synonym: "mental retardation, X-linked syndromic 10" EXACT DEPRECATED [DOID:0060810] synonym: "mental retardation, X-linked, syndromic 10" EXACT DEPRECATED [MONDO:Lexical, OMIM:300220] synonym: "mental retardation, X-linked, syndromic type 10" EXACT DEPRECATED [MONDORULE:2, OMIM:300220] @@ -197306,6 +200734,7 @@ synonym: "MHBD deficiency" EXACT [OMIM:300438, Orphanet:391417] synonym: "MRXS10" EXACT DEPRECATED [DOID:0060810, MONDO:Lexical, OMIM:300220] synonym: "syndromic X-linked intellectual disability type 10" NARROW [MONDO:0010272, Orphanet:85295] synonym: "X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome" NARROW [DOID:0060810, Orphanet:85295] +synonym: "X-linked intellectual disability-choreoathetosis-abnormal behaviour syndrome" NARROW OMO:0003005 [] xref: DOID:0060810 {source="MONDO:equivalentTo"} xref: ICD10CM:E72.8 {source="Orphanet:391417", source="Orphanet:391417/attributed", source="Orphanet:391417/ntbt"} xref: ICD10CM:G25.5 {source="DOID:0060810", source="Orphanet:85295/attributed", source="Orphanet:85295/ntbt", source="Orphanet:85295"} @@ -197329,11 +200758,13 @@ id: MONDO:0010328 name: alpha-thalassemia-myelodysplastic syndrome def: "Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH)." [Orphanet:231401] subset: ordo_disease {source="Orphanet:231401"} +synonym: "acquired haemoglobin H disease" EXACT OMO:0003005 [] synonym: "acquired HbH disease" EXACT [Orphanet:231401] synonym: "acquired hemoglobin H disease" EXACT [Orphanet:231401] synonym: "ALPHA-thalassemia myelodysplasia syndrome" RELATED [MONDO:Lexical, OMIM:300448] synonym: "alpha-thalassemia myelodysplasia syndrome, somatic" EXACT [OMIM:300448, OMIM:genemap2] synonym: "ATMDS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300448, Orphanet:231401] +synonym: "Haemoglobin H disease, acquired" RELATED OMO:0003005 [] synonym: "Hemoglobin H disease, acquired" RELATED [OMIM:300448] xref: DOID:0112125 {source="MONDO:equivalentTo"} xref: ICD10CM:D56.0 {source="MONDO:relatedTo", source="Orphanet:231401", source="Orphanet:231401/attributed", source="Orphanet:231401/ntbt"} @@ -197615,6 +201046,8 @@ def: "An epilepsy, X-linked, with or without impaired intellectual development a subset: ordo_disease {source="Orphanet:85294"} synonym: "epilepsy, X-linked, with variable learning disabilities and behavior disorders" RELATED [OMIM:300491] synonym: "epilepsy, X-linked, with variable learning disabilities and behavior disorders, X-linked recessive, X-linked dominant" EXACT [OMIM:300491, OMIM:genemap2] +synonym: "epilepsy, X-linked, with variable learning disabilities and behaviour disorders" RELATED OMO:0003005 [] +synonym: "epilepsy, X-linked, with variable learning disabilities and behaviour disorders, X-linked recessive, X-linked dominant" EXACT OMO:0003005 [] synonym: "X-linked epilepsy-learning disabilities-behavior disorders syndrome" EXACT CLINGEN_PREFERRED [Orphanet:85294] xref: DOID:0112122 {source="MONDO:equivalentTo"} xref: ICD10CM:Q87.8 {source="Orphanet:85294/attributed", source="Orphanet:85294/ntbt", source="Orphanet:85294"} @@ -197845,6 +201278,7 @@ def: "Fanconi anemia caused by mutations of the FANCB gene. This gene encodes th synonym: "FA2" EXACT ABBREVIATION [DOID:0111098] synonym: "FACB" EXACT ABBREVIATION [DOID:0111098, OMIM:300514] synonym: "FANCB" EXACT ABBREVIATION [DOID:0111098, MONDO:Lexical, OMIM:300514] +synonym: "Fanconi anaemia complementation group type B" EXACT OMO:0003005 [] synonym: "Fanconi anemia complementation group B" EXACT CLINGEN_PREFERRED [] synonym: "Fanconi anemia complementation group type B" EXACT [DOID:0111098, MONDORULE:1] synonym: "Fanconi anemia, complementation group B" RELATED [MONDO:Lexical, OMIM:300514] @@ -199830,6 +203264,7 @@ name: cardiomyopathy, fatal fetal, due to myocardial calcification subset: gard_rare {source="GARD:0008311"} synonym: "cardiomyopathy, fatal fetal, due to myocardial calcification" EXACT [OMIM:300829] synonym: "myocardial calcifications resulting in intrauterine fetal death" RELATED [GARD:0008311] +synonym: "myocardial calcifications resulting in intrauterine foetal death" RELATED OMO:0003005 [] xref: MESH:C543241 {source="MONDO:equivalentTo"} xref: OMIM:300829 {source="MONDO:equivalentTo"} xref: OMIM:606163 {source="MONDO:equivalentObsolete", source="GARD:0008311"} @@ -200171,6 +203606,7 @@ synonym: "NAT1 deficiency" RELATED [GARD:0000188] synonym: "Ogden syndrome" EXACT [MONDO:Lexical, OMIM:300855, Orphanet:276432] synonym: "Ogden syndrome, X-linked recessive, X-linked dominant" EXACT [OMIM:300855, OMIM:genemap2] synonym: "OGDNS" EXACT ABBREVIATION [DOID:0050781, MONDO:Lexical, OMIM:300855] +synonym: "premature ageing appearance-developmental delay-cardiac arrhythmia syndrome" EXACT OMO:0003005 [] synonym: "premature aging appearance-developmental delay-cardiac arrhythmia syndrome" EXACT [Orphanet:276432] synonym: "X-linked malformation and infantile lethality syndrome" EXACT [DOID:0050781] xref: DOID:0050781 {source="MONDO:equivalentTo"} @@ -200701,8 +204137,10 @@ subset: ordo_disease {source="Orphanet:466026"} synonym: "anemia, nonspherocytic hemolytic, due to G6PD deficiency" EXACT [OMIM:300908] synonym: "Class I G6PD deficiency" EXACT [Orphanet:466026] synonym: "class I glucose-6-phosphate dehydrogenase deficiency" EXACT [MONDO:0018750] +synonym: "hemolytic anaemia due to G6PD deficiency" EXACT OMO:0003005 [] synonym: "hemolytic anemia due to G6PD deficiency" EXACT [Orphanet:466026] synonym: "hemolytic anemia, G6PD deficient (favism), X-linked dominant" EXACT [OMIM:300908, OMIM:genemap2] +synonym: "severe hemolytic anaemia due to G6PD deficiency" EXACT OMO:0003005 [] synonym: "severe hemolytic anemia due to G6PD deficiency" EXACT [Orphanet:466026] xref: MESH:C567533 {source="MONDO:equivalentTo"} xref: OMIM:300908 {source="MONDO:equivalentTo"} @@ -200727,14 +204165,18 @@ def: "Swelling involving the deep dermis, subcutaneous, or submucosal tissues, r synonym: "angioedemas" EXACT [MESH:D000799] synonym: "angioneurotic edema" NARROW [DOID:1558, MESH:D000799] synonym: "angioneurotic Edemas" EXACT [MESH:D000799] +synonym: "angioneurotic oedema" NARROW OMO:0003005 [] synonym: "edema, angioneurotic" EXACT [MESH:D000799] synonym: "edema, Quincke's" EXACT [MESH:D000799] synonym: "Edemas, angioneurotic" EXACT [MESH:D000799] synonym: "giant urticaria" EXACT [DOID:1558, MESH:D000799] synonym: "giant Urticarias" EXACT [MESH:D000799] synonym: "Quincke edema" EXACT [MESH:D000799] +synonym: "Quincke oedema" EXACT OMO:0003005 [] synonym: "Quincke's edema" EXACT [DOID:1558, MESH:D000799] +synonym: "Quincke's oedema" EXACT OMO:0003005 [] synonym: "Quinckes edema" EXACT [MESH:D000799] +synonym: "Quinckes oedema" EXACT OMO:0003005 [] synonym: "urticaria, giant" EXACT [MESH:D000799] synonym: "Urticarias, giant" EXACT [MESH:D000799] xref: CSP:2716-7007 {source="DOID:1558"} @@ -201018,9 +204460,12 @@ id: MONDO:0010493 name: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the TSR2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "DBA14" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300946] +synonym: "Diamond-Blackfan anaemia 14 with mandibulofacial dysostosis, X-linked recessive" EXACT OMO:0003005 [] +synonym: "Diamond-Blackfan anaemia caused by mutation in TSR2" EXACT OMO:0003005 [] synonym: "Diamond-Blackfan anemia 14 with mandibulofacial dysostosis" EXACT [MONDO:Lexical, OMIM:300946] synonym: "Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, X-linked recessive" EXACT [OMIM:300946, OMIM:genemap2] synonym: "Diamond-Blackfan anemia caused by mutation in TSR2" EXACT [MONDO:design_pattern] +synonym: "TSR2 Diamond-Blackfan anaemia" EXACT OMO:0003005 [] synonym: "TSR2 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111897 {source="MONDO:equivalentTo"} xref: OMIM:300946 {source="MONDO:equivalentTo"} @@ -201744,6 +205189,7 @@ id: MONDO:0010524 name: X-linked sideroblastic anemia with ataxia def: "A rare syndromic, inherited form of sideroblastic anemia in which the cause of the disease is a mutation in the ABCB7 gene and is characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia." [Orphanet:2802] subset: ordo_disease {source="Orphanet:2802"} +synonym: "anaemia sideroblastic and spinocerebellar ataxia" EXACT OMO:0003005 [] synonym: "anemia sideroblastic and spinocerebellar ataxia" EXACT [DOID:0050554] synonym: "anemia, Sex-linked hypochromic Siderobla" RELATED [MESH:C536358] synonym: "anemia, sideroblastic, and spinocerebellar ataxia" RELATED [MESH:C536358, MONDO:Lexical, OMIM:301310] @@ -201751,7 +205197,12 @@ synonym: "anemia, sideroblastic, with ataxia, X-linked recessive" EXACT [OMIM:30 synonym: "ASAT" EXACT ABBREVIATION [DOID:0060064, MESH:C536358, MONDO:Lexical, OMIM:301310] synonym: "Pagon Bird Detter syndrome" RELATED [MESH:C536358] synonym: "Pagon-Bird-Detter syndrome" EXACT [Orphanet:2802] +synonym: "sideroblastic anaemia with spinocerebellar ataxia" EXACT OMO:0003005 [] synonym: "sideroblastic anemia with spinocerebellar ataxia" EXACT [MESH:C536358, MONDO:0000609] +synonym: "X-linked sideroblastic Anaemia and ataxia" RELATED OMO:0003005 [] +synonym: "X-linked sideroblastic anaemia and ataxia" EXACT OMO:0003005 [] +synonym: "X-linked sideroblastic anaemia and spinocerebellar ataxia" RELATED OMO:0003005 [] +synonym: "X-linked sideroblastic anaemia with spinocerebellar ataxia" EXACT OMO:0003005 [] synonym: "X-linked sideroblastic Anemia and ataxia" RELATED [MESH:C536358] synonym: "X-linked sideroblastic anemia and ataxia" EXACT [DOID:0050554] synonym: "X-linked sideroblastic anemia and spinocerebellar ataxia" RELATED [Orphanet:2802] @@ -202812,6 +206263,8 @@ synonym: "CBBM" RELATED ABBREVIATION [GARD:0000917] synonym: "color blindness blue mono cone monochromatic type" RELATED [GARD:0000917] synonym: "color blindness, blue monocone monochromatic type" EXACT [Orphanet:16] synonym: "colorblindness, blue-Mono-cone-monochromatic type" RELATED [OMIM:303700] +synonym: "colour blindness blue mono cone monochromatic type" RELATED OMO:0003005 [] +synonym: "colour blindness, blue monocone monochromatic type" EXACT OMO:0003005 [] synonym: "cone dystrophy 5, X-linked" RELATED [OMIM:303700] synonym: "incomplete achromatopsia X-linked" RELATED [GARD:0000917] synonym: "S cone monochromacy" EXACT [Orphanet:16] @@ -203149,6 +206602,7 @@ synonym: "X-linked intellectual disability - Dandy-Walker malformation - basal g synonym: "X-linked intellectual disability 59" EXACT [DOID:0060800] synonym: "X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome" EXACT [DOID:0060800] synonym: "X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome" EXACT [MONDO:0019425] +synonym: "X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behaviour syndrome" EXACT OMO:0003005 [] synonym: "X-linked mental retardation 59" EXACT DEPRECATED [DOID:0060800] synonym: "X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures" EXACT [DOID:0060800] xref: DOID:0060800 {source="MONDO:equivalentTo"} @@ -203357,13 +206811,19 @@ synonym: "autoimmune enteropathy type 1" EXACT [DOID:0090110, Orphanet:37042] synonym: "autoimmunity-immunodeficiency syndrome X-linked" RELATED [GARD:0001850] synonym: "autoimmunity-immunodeficiency syndrome, X-linked" EXACT [DOID:0090110] synonym: "diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea" EXACT [DOID:0090110] +synonym: "diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhoea" EXACT OMO:0003005 [] synonym: "diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked" EXACT [DOID:0090110] synonym: "DMSD" EXACT ABBREVIATION [DOID:0090110] +synonym: "enteropathy, autoimmune, with hemolytic Anaemia and polyendocrinopathy" RELATED OMO:0003005 [] synonym: "enteropathy, autoimmune, with hemolytic Anemia and polyendocrinopathy" RELATED [OMIM:304790] synonym: "IDDM secretory diarrhea syndrome" RELATED [GARD:0001850] +synonym: "IDDM secretory diarrhoea syndrome" RELATED OMO:0003005 [] synonym: "IDDM-secretory diarrhea syndrome" EXACT [DOID:0090110] synonym: "Iddm-secretory diarrhea syndrome" RELATED [OMIM:304790] +synonym: "IDDM-secretory diarrhoea syndrome" EXACT OMO:0003005 [] +synonym: "Iddm-secretory diarrhoea syndrome" RELATED OMO:0003005 [] synonym: "immune dysfunction and diarrhea syndrome" EXACT [NCIT:C131009] +synonym: "immune dysfunction and diarrhoea syndrome" EXACT OMO:0003005 [] synonym: "immune dysregulation, polyendocrinopathy, and enteropathy X-linked syndrome" EXACT [NCIT:C131009] synonym: "immunodeficiency, polyendocrinopathy, and enteropathy, X-linked" EXACT [DOID:0090110] synonym: "immunodeficiency, polyendocrinopathy, and enteropathy, X-linked, formerly" RELATED [OMIM:304790] @@ -203375,6 +206835,7 @@ synonym: "IPEX" EXACT ABBREVIATION [DOID:0090110, MONDO:Lexical, OMIM:304790, Or synonym: "IPEX syndrome" RELATED [GARD:0001850] synonym: "islets of Langerhans, absence of" RELATED [OMIM:304790] synonym: "polyendocrinopathy, immune dysfunction and diarrhea X-linked" RELATED [GARD:0001850] +synonym: "polyendocrinopathy, immune dysfunction and diarrhoea X-linked" RELATED OMO:0003005 [] synonym: "polyendocrinopathy, immune dysfunction, and diarrhea, X-linked" RELATED [OMIM:304790] synonym: "X linked polyendocrinopathy" EXACT [NCIT:C131009] synonym: "X-linked autoimmunity-allergic dysregulation syndrome" EXACT [DOID:0090110, OMIM:304790] @@ -203904,13 +207365,20 @@ id: MONDO:0010602 name: hemophilia A def: "The most common form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency." [Orphanet:98878] subset: ordo_disease {source="Orphanet:98878"} +synonym: "autosomal haemophilia a" RELATED OMO:0003005 [] synonym: "autosomal hemophilia a" RELATED [OMIM:134500] +synonym: "classic haemophilia" RELATED OMO:0003005 [] synonym: "classic hemophilia" RELATED [GARD:0006591] +synonym: "classical haemophilia" RELATED OMO:0003005 [] synonym: "classical hemophilia" RELATED [GARD:0006591] synonym: "congenital factor VIII disorder" EXACT [DOID:12134, ICD9CM:286.0] synonym: "factor 8 deficiency" RELATED [GARD:0006591, OMIM:134500] synonym: "factor VIII deficiency" EXACT [MONDO:0007596, Orphanet:98878] synonym: "Haemophilia A" RELATED [GARD:0006591] +synonym: "haemophilia A, congenital" RELATED OMO:0003005 [] +synonym: "haemophilia a, X-linked recessive" EXACT OMO:0003005 [] +synonym: "haemophilia type A" EXACT OMO:0003005 [] +synonym: "haemophilia type a" EXACT OMO:0003005 [] synonym: "hem A" RELATED [GARD:0006591] synonym: "HEMA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:306700] synonym: "hemophilia A" EXACT CLINGEN_PREFERRED [DOID:12134, MONDO:Lexical, OMIM:306700] @@ -203972,6 +207440,10 @@ synonym: "deficiency, functional factor IX" EXACT [DOID:12259] synonym: "F9 deficiency" RELATED [OMIM:306900] synonym: "factor 9 deficiency" RELATED [OMIM:306900] synonym: "factor IX deficiency" EXACT [DOID:12259, Orphanet:98879] +synonym: "haemophilia B Leyden" RELATED OMO:0003005 [] +synonym: "haemophilia B(M)" RELATED OMO:0003005 [] +synonym: "haemophilia b, X-linked recessive" EXACT OMO:0003005 [] +synonym: "haemophilia type B" EXACT OMO:0003005 [] synonym: "hem B" RELATED [GARD:0008732] synonym: "HEMB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:306900] synonym: "hemophilia B" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:306900] @@ -204076,6 +207548,7 @@ name: holoprosencephaly-hypokinesia-congenital contractures syndrome def: "An extremely rare and fatal central nervous system malformation occurring during embryogenesis, presenting prenatally with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures and intrauterine growth restriction. An X-linked recessive inheritance has been suggested." [https://orcid.org/0000-0001-5208-3432, Orphanet:2570] subset: ordo_malformation_syndrome {source="Orphanet:2570"} synonym: "holoprosencephaly with fetal akinesia/hypokinesia sequence" RELATED [OMIM:306990] +synonym: "holoprosencephaly with foetal akinesia/hypokinesia sequence" RELATED OMO:0003005 [] synonym: "holoprosencephaly-fetal akinesia/hypokinesia sequence syndrome" EXACT [Orphanet:2570] synonym: "Morse-Rawnsley-Sargent syndrome" EXACT [Orphanet:2570] xref: ICD10CM:Q04.2 {source="MONDO:relatedTo", source="Orphanet:2570/ntbt", source="Orphanet:2570"} @@ -204188,10 +207661,13 @@ subset: ordo_clinical_subtype {source="Orphanet:79495"} synonym: "Cgh" RELATED [OMIM:307150] synonym: "chromosome Xq27.1 Interchromosomal insertion syndrome" RELATED [OMIM:307150] synonym: "chromosome Xq27.1 interchromosomal insertion syndrome" RELATED [GARD:0002863] +synonym: "congenital generalised hypertrichosis, Macias-Flores type" EXACT OMO:0003005 [] synonym: "congenital generalized hypertrichosis, Macias-Flores type" EXACT [Orphanet:79495] synonym: "hCG" RELATED [OMIM:307150] synonym: "HTC2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:307150] +synonym: "hypertrichosis congenital generalised X-linked" RELATED OMO:0003005 [] synonym: "hypertrichosis congenital generalized X-linked" RELATED [GARD:0002863] +synonym: "hypertrichosis, congenital generalised" RELATED OMO:0003005 [] synonym: "hypertrichosis, congenital generalized" RELATED [MONDO:Lexical, OMIM:307150] synonym: "hypertrichosis, congenital generalized, X-linked dominant" EXACT [OMIM:307150, OMIM:genemap2] synonym: "Macias Flores-Garcia Cruz-Rivera syndrome" EXACT [Orphanet:79495] @@ -204757,6 +208233,7 @@ name: keratosis follicularis-dwarfism-cerebral atrophy syndrome def: "A syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. It has been described in six males from one family (three boys and three maternal uncles). Generalized alopecia and microcephaly were also present." [Orphanet:2339] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:2339"} +synonym: "dwarfism, cerebral atrophy and generalised keratosis follicularis" RELATED OMO:0003005 [] synonym: "dwarfism, cerebral atrophy and generalized keratosis follicularis" RELATED [GARD:0003099] synonym: "keratosis follicularis dwarfism and cerebral atrophy" RELATED [GARD:0003099] synonym: "keratosis follicularis, dwarfism, and cerebral atrophy" RELATED [OMIM:308830] @@ -204851,10 +208328,12 @@ property_value: confidence "0.1428571428571428" xsd:double id: MONDO:0010643 name: acute leukemia def: "A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts)." [NCIT:C9300] +synonym: "acute leukaemia (disease)" EXACT OMO:0003005 [] synonym: "acute leukemia" EXACT [MONDO:ambiguous, NCIT:C9300] synonym: "acute leukemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "leukemia, acute, X-linked" RELATED [OMIM:308960] -synonym: "stem cell leukemia" RELATED [DOID:12603] +synonym: "stem cell leukaemia" RELATED OMO:0003005 [] +synonym: "stem cell leukaemia (disease)" RELATED OMO:0003005 [] synonym: "stem cell leukemia" RELATED [DOID:12603, NCIT:C9298] synonym: "stem cell leukemia (disease)" RELATED [MONDO:patterns/location] xref: DOID:12603 {source="MONDO:equivalentTo"} @@ -206017,7 +209496,9 @@ name: N syndrome def: "N syndrome is characterized by intellectual deficit, deafness, ocular anomalies, T-cell leukemia, cryptorchidism, hypospadias and spasticity." [Orphanet:2608] subset: gard_rare {source="GARD:0003902"} subset: ordo_malformation_syndrome {source="Orphanet:2608"} +synonym: "intellectual disability, malformations, chromosome breakage, and development of T-cell leukaemia" RELATED OMO:0003005 [] synonym: "intellectual disability, malformations, chromosome breakage, and development of T-cell leukemia" RELATED [GARD:0003902] +synonym: "mental retardation, malformations, chromosome breakage, and development of T-cell leukaemia" RELATED OMO:0003005 [] synonym: "mental retardation, malformations, chromosome breakage, and development of T-cell leukemia" RELATED DEPRECATED [GARD:0003902] synonym: "N syndrome" EXACT [MONDO:Lexical, OMIM:310465] synonym: "NSX" EXACT ABBREVIATION [DOID:0050769, MONDO:Lexical, OMIM:310465] @@ -206156,6 +209637,7 @@ synonym: "Anderson-Warburg syndrome" RELATED [GARD:0007224] synonym: "atrophia bulborum hereditaria" EXACT [DOID:0060844, OMIM:310600, Orphanet:649] synonym: "Episkopi blindness" EXACT [DOID:0060844, OMIM:310600, Orphanet:649] synonym: "fetal iritis syndrome" RELATED [GARD:0007224] +synonym: "foetal iritis syndrome" RELATED OMO:0003005 [] synonym: "ND" RELATED ABBREVIATION [MONDO:Lexical, OMIM:310600] synonym: "nd" RELATED [OMIM:310600] synonym: "NDP" RELATED ABBREVIATION [GARD:0007224] @@ -208137,6 +211619,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010782 name: myopathy, lactic acidosis, and sideroblastic anemia 3 synonym: "MLASA3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:500011] +synonym: "myopathy, lactic acidosis, and sideroblastic anaemia type 3" EXACT OMO:0003005 [] synonym: "myopathy, lactic acidosis, and sideroblastic anemia 3" EXACT [MONDO:Lexical, OMIM:500011] synonym: "myopathy, lactic acidosis, and sideroblastic anemia type 3" EXACT [MONDORULE:1, OMIM:500011] xref: DOID:0111184 {source="MONDO:equivalentTo"} @@ -208225,7 +211708,9 @@ subset: ordo_disease {source="Orphanet:480"} synonym: "chronic progressive external ophthalmoplegia with myopathy" RELATED [OMIM:530000] synonym: "CPEO with myopathy" RELATED [OMIM:530000] synonym: "CPEO with ragged red fibers" RELATED [GARD:0006817] +synonym: "CPEO with ragged red fibres" RELATED OMO:0003005 [] synonym: "CPEO with ragged-Red fibers" RELATED [OMIM:530000] +synonym: "CPEO with ragged-Red fibres" RELATED OMO:0003005 [] synonym: "Kearns-Sayre syndrome" EXACT [MONDO:Lexical, OMIM:530000] synonym: "KSS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:530000] synonym: "mitochondrial Cytopathy" RELATED [OMIM:530000] @@ -208233,7 +211718,9 @@ synonym: "oculocraniosomatic syndrome" RELATED [OMIM:530000] synonym: "ophthalmoplegia plus syndrome" RELATED [GARD:0006817] synonym: "ophthalmoplegia, pigmentary Degeneration of retina, and cardiomyopathy" RELATED [OMIM:530000] synonym: "ophthalmoplegia, progressive external, with ragged red fibers" RELATED [GARD:0006817] +synonym: "ophthalmoplegia, progressive external, with ragged red fibres" RELATED OMO:0003005 [] synonym: "ophthalmoplegia, progressive external, with ragged-Red fibers" RELATED [OMIM:530000] +synonym: "ophthalmoplegia, progressive external, with ragged-Red fibres" RELATED OMO:0003005 [] synonym: "ophthalmoplegia-plus syndrome" RELATED [OMIM:530000] xref: DOID:12934 {source="MONDO:equivalentTo"} xref: ICD10CM:H49.8 {source="Orphanet:480/inclusion", source="Orphanet:480", source="Orphanet:480/ntbt"} @@ -208330,14 +211817,23 @@ synonym: "Fukuhara syndrome" EXACT [Orphanet:551] synonym: "MERRF" RELATED ABBREVIATION [MONDO:Lexical, OMIM:545000] synonym: "MERRF syndrome" EXACT [OMIM:545000] synonym: "myoclonic epilepsy - ragged red fibers" EXACT [DOID:310] +synonym: "myoclonic epilepsy - ragged red fibres" EXACT OMO:0003005 [] synonym: "myoclonic epilepsy associated with ragged red fibers" RELATED [GARD:0007144] +synonym: "myoclonic epilepsy associated with ragged red fibres" RELATED OMO:0003005 [] synonym: "myoclonic epilepsy associated with ragged-RED fibers" RELATED [MONDO:Lexical, OMIM:545000] +synonym: "myoclonic epilepsy associated with ragged-RED fibres" RELATED OMO:0003005 [] synonym: "myoclonic epilepsy with ragged red fibers" RELATED [GARD:0007144] +synonym: "myoclonic epilepsy with ragged red fibres" RELATED OMO:0003005 [] synonym: "myoclonus epilepsy and ragged red fibers" EXACT [DOID:310] +synonym: "myoclonus epilepsy and ragged red fibres" EXACT OMO:0003005 [] synonym: "myoclonus epilepsy associated with ragged-red fibers" EXACT [Orphanet:551] +synonym: "myoclonus epilepsy associated with ragged-red fibres" EXACT OMO:0003005 [] synonym: "myoclonus with epilepsy and with ragged Red fibers" EXACT [DOID:310] synonym: "myoclonus with epilepsy and with ragged Red fibers (MERRF syndrome)" EXACT [DOID:310] +synonym: "myoclonus with epilepsy and with ragged Red fibres" EXACT OMO:0003005 [] +synonym: "myoclonus with epilepsy and with ragged Red fibres (MERRF syndrome)" EXACT OMO:0003005 [] synonym: "myoencephalopathy ragged-red fiber disease" RELATED [GARD:0007144] +synonym: "myoencephalopathy ragged-red fibre disease" RELATED OMO:0003005 [] xref: DOID:310 {source="MONDO:equivalentTo"} xref: ICD10CM:E88.42 {source="MONDO:equivalentTo", source="DOID:310"} xref: ICD10CM:G71.3 {source="Orphanet:551/attributed", source="Orphanet:551/ntbt", source="Orphanet:551"} @@ -208439,6 +211935,7 @@ name: oncocytic neoplasm def: "A usually benign neoplasm composed of large cells with abundant eosinophilic granular cytoplasm. Representative examples include oncocytic neoplasms of the thyroid gland, and kidney. (NCI05)" [NCIT:C7072] synonym: "oncocytic neoplasm" EXACT [NCIT:C7072] synonym: "oncocytic tumor" EXACT [NCIT:C7072] +synonym: "oncocytic tumour" EXACT OMO:0003005 [] synonym: "oncocytoma" BROAD [NCIT:C7072] synonym: "oncocytoma, benign" EXACT [NCIT:C7072] xref: NCIT:C7072 {source="MONDO:equivalentTo"} @@ -208466,6 +211963,8 @@ subset: ordo_disease {source="Orphanet:699"} synonym: "Pearson marrow-pancreas syndrome" EXACT [DOID:0060067, OMIM:557000] synonym: "Pearson's marrow/pancreas syndrome" RELATED [GARD:0007343] synonym: "Pearson's syndrome" RELATED [GARD:0007343] +synonym: "sideroblastic Anaemia with marrow cell vacuolization and exocrine pancreatic dysfunction" RELATED OMO:0003005 [] +synonym: "sideroblastic anaemia with marrow cell vacuolization and exocrine pancreatic dysfunction (formerly)" RELATED OMO:0003005 [] synonym: "sideroblastic Anemia with marrow cell vacuolization and exocrine pancreatic dysfunction" RELATED [OMIM:557000] synonym: "sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction (formerly)" RELATED [GARD:0007343] xref: DOID:0060067 {source="MONDO:equivalentTo"} @@ -208605,6 +212104,7 @@ name: Eiken syndrome def: "Eiken syndrome is a rare familial skeletal dysplasia characterized by multiple epiphyseal dysplasia, with extremely retarded ossification. It has been described in 6 members of a unique consanguineous family." [Orphanet:79106] subset: ordo_malformation_syndrome {source="Orphanet:79106"} synonym: "bone modeling defect of hands and feet" RELATED [OMIM:600002] +synonym: "bone modelling defect of hands and feet" RELATED OMO:0003005 [] synonym: "Eiken skeletal dysplasia" RELATED [OMIM:600002] synonym: "Eiken syndrome" EXACT [OMIM:600002] xref: DOID:0111732 {source="MONDO:equivalentTo"} @@ -208885,9 +212385,13 @@ def: "Qazi-Markouizos syndrome is characterized principally by non-progressive c subset: gard_rare {source="GARD:0000371"} subset: ordo_disease {source="Orphanet:3010"} synonym: "Dysharmonic skeletal maturation - muscular fiber disproportion" EXACT [DOID:0050740] +synonym: "Dysharmonic skeletal maturation - muscular fibre disproportion" EXACT OMO:0003005 [] synonym: "Dysharmonic skeletal maturation muscular fiber disproportion" RELATED [GARD:0000371] +synonym: "Dysharmonic skeletal maturation muscular fibre disproportion" RELATED OMO:0003005 [] synonym: "Dysharmonic skeletal maturation-muscular fiber disproportion syndrome" EXACT [Orphanet:3010] +synonym: "Dysharmonic skeletal maturation-muscular fibre disproportion syndrome" EXACT OMO:0003005 [] synonym: "hypotonia, psychomotor retardation, seizures, delayed and Dysharmonic skeletal maturation, and congenital fiber type disproportion" RELATED [GARD:0000371] +synonym: "hypotonia, psychomotor retardation, seizures, delayed and Dysharmonic skeletal maturation, and congenital fibre type disproportion" RELATED OMO:0003005 [] synonym: "PUERTO RICAN infant hypotonia syndrome" RELATED [OMIM:600096] synonym: "Puertorican infant hypotonia syndrome" RELATED [GARD:0000371] synonym: "Qazi-Markouizos syndrome" EXACT [DOID:0050740] @@ -209222,6 +212726,7 @@ subset: ordo_disease {source="Orphanet:199354"} synonym: "CARASIL" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600142] synonym: "cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy" RELATED [MONDO:Lexical, OMIM:600142] synonym: "cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy" EXACT [Orphanet:199354] +synonym: "cerebrovascular disease with thin skin, alopecia, and disc disease" RELATED OMO:0003005 [] synonym: "cerebrovascular disease with thin skin, alopecia, and disk disease" RELATED [OMIM:600142] synonym: "Maeda syndrome" EXACT [OMIM:600142, Orphanet:199354] synonym: "subcortical vascular encephalopathy, progressive" RELATED [OMIM:600142] @@ -210490,6 +213995,7 @@ id: MONDO:0010891 name: lethal hemolytic anemia-genital anomalies syndrome def: "Waters-West syndrome is characterized by the association of lethal non-spherocytic, non-immune hemolytic anemia with abnormalities of the external genitalia (micropenis and hypospadias), flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. It has been described only once in two brothers who died a few hours after birth. The second-born infant had massive ascites and hepatosplenomegaly. The mother had two spontaneous abortions (at 6 and 12 weeks gestation) but gave birth to a normal girl, suggesting an autosomal or X-linked recessive mode of inheritance. Although the parents were not known to be consanguineous, they shared a French-Canadian and American Indian ethnic origin." [Orphanet:1046] subset: ordo_malformation_syndrome {source="Orphanet:1046"} +synonym: "hemolytic anaemia lethal congenital nonspherocytic with genital and other abnormalities" RELATED OMO:0003005 [] synonym: "hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities" RELATED [GARD:0002642] synonym: "hemolytic anemia, lethal congenital nonspherocytic, with genital and other abnormalities" RELATED [OMIM:600461] synonym: "water-West syndrome" EXACT [Orphanet:1046] @@ -211166,6 +214672,7 @@ subset: gard_rare {source="GARD:0000160"} subset: ordo_disease {source="Orphanet:3130"} synonym: "Komuragaeri disease" EXACT [OMIM:600705, Orphanet:3130] synonym: "muscle spasms, intermittent with alopecia, diarrhea and skeletal abnormalities" RELATED [GARD:0000160] +synonym: "muscle spasms, intermittent with alopecia, diarrhoea and skeletal abnormalities" RELATED OMO:0003005 [] synonym: "muscle spasms, intermittent, with alopecia, diarrhea, and skeletal abnormalities" RELATED [OMIM:600705] synonym: "Satoyoshi syndrome" EXACT [OMIM:600705] xref: MedDRA:10070579 {source="Orphanet:3130/e", source="Orphanet:3130"} @@ -211350,6 +214857,7 @@ synonym: "hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal vit synonym: "VDDR2B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600785] synonym: "vitamin D dependent rickets 2b" EXACT [NCIT:C131076] synonym: "vitamin D receptor signaling defect rickets" EXACT [NCIT:C131076] +synonym: "vitamin D receptor signalling defect rickets" EXACT OMO:0003005 [] synonym: "vitamin D resistant rickets" EXACT [NCIT:C131076] synonym: "vitamin D-dependent rickets type II without alopecia" EXACT [MONDO:cjm] synonym: "vitamin D-dependent rickets, type 2B, with normal vitamin D receptor" RELATED [MONDO:Lexical, OMIM:600785] @@ -211805,7 +215313,10 @@ name: Fanconi anemia complementation group E def: "Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2." [NCIT:C125709] synonym: "face" EXACT [DOID:0111084, OMIM:600901] synonym: "FANCE" EXACT ABBREVIATION [DOID:0111084, MONDO:Lexical, OMIM:600901] +synonym: "FANCE Fanconi anaemia" EXACT OMO:0003005 [] synonym: "FANCE Fanconi anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +synonym: "Fanconi anaemia caused by mutation in FANCE" EXACT OMO:0003005 [] +synonym: "Fanconi anaemia complementation group type E" EXACT OMO:0003005 [] synonym: "Fanconi anemia caused by mutation in FANCE" EXACT [MONDO:design_pattern] synonym: "Fanconi anemia complementation group E" EXACT CLINGEN_PREFERRED [] synonym: "Fanconi anemia complementation group type E" EXACT [DOID:0111084, MONDORULE:1] @@ -213164,11 +216675,13 @@ def: "A malignant neoplasm affecting the lungs and/or the pleura. Pleuropulmonar subset: clingen subset: ordo_disease {source="Orphanet:64742"} synonym: "childhood pulmonary blastoma" EXACT [MONDO:design_pattern] +synonym: "paediatric pulmonary blastoma" EXACT OMO:0003005 [] synonym: "pediatric pulmonary blastoma" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "pleuropulmonary blastoma" EXACT CLINGEN_PREFERRED [MONDO:Lexical, NCIT:C5669, OMIM:601200] synonym: "pleuropulmonary blastoma (morphologic abnormality)" EXACT [DOID:4769] synonym: "PPB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601200] synonym: "PPB familial tumor and dysplasia syndrome" RELATED [OMIM:601200] +synonym: "PPB familial tumour and dysplasia syndrome" RELATED OMO:0003005 [] synonym: "pulmonary blastoma of childhood" EXACT [MONDO:patterns/childhood, NCIT:C5669] xref: DOID:4769 {source="MONDO:equivalentTo"} xref: EFO:0009052 {source="MONDO:equivalentTo"} @@ -213245,7 +216758,9 @@ def: "A recessively inherited condition with arrhythmogenic right ventricular dy subset: gard_rare {source="GARD:0009795"} subset: ordo_disease {source="Orphanet:34217"} synonym: "cardiomyopathy, arrhythmogenic right ventricular, with skin, hair, and nail abnormalities" RELATED [OMIM:601214] +synonym: "keratoderma with woolly hair type I" EXACT OMO:0003005 [] synonym: "keratoderma with wooly hair type I" EXACT [Orphanet:34217] +synonym: "keratosis palmoplantaris arrythmogenic cardiomyopathy woolly hair" RELATED OMO:0003005 [] synonym: "keratosis palmoplantaris arrythmogenic cardiomyopathy wooly hair" RELATED [GARD:0009795] synonym: "keratosis palmoplantaris with arrhythmogenic cardiomyopathy" RELATED [OMIM:601214] synonym: "keratosis palmoplantaris with arrythmogenic cardiomyopathy" EXACT [Orphanet:34217] @@ -213255,8 +216770,11 @@ synonym: "NAXOS disease" EXACT [OMIM:601214] synonym: "Naxos disease" EXACT [MONDO:Lexical, OMIM:601214] synonym: "NXD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:601214] synonym: "palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy" EXACT [Orphanet:34217] +synonym: "palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and woolly hair" RELATED OMO:0003005 [] synonym: "palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and wooly hair" RELATED [OMIM:601214] synonym: "palmoplantar keratoderma with arrythmogenic cardiomyopathy" EXACT [Orphanet:34217] +synonym: "woolly hair palmoplantar keratoderma cardiac abnormalities" RELATED OMO:0003005 [] +synonym: "woolly hair, palmoplantar keratoderma, and Cardiac abnormalities" RELATED OMO:0003005 [] synonym: "wooly hair palmoplantar keratoderma cardiac abnormalities" RELATED [GARD:0009795] synonym: "wooly hair, palmoplantar keratoderma, and Cardiac abnormalities" RELATED [OMIM:601214] xref: DOID:0080551 {source="MONDO:equivalentTo"} @@ -214050,9 +217568,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011056 name: Wilms tumor 4 synonym: "familial Wilms tumor 1" RELATED [OMIM:601363] +synonym: "familial Wilms tumour 1" RELATED OMO:0003005 [] synonym: "Wilms tumor 4" EXACT [OMIM:601363] synonym: "Wilms tumor type 4" EXACT [MONDORULE:1, OMIM:601363] synonym: "Wilms tumor, type 4" EXACT [OMIM:601363, OMIM:genemap2] +synonym: "Wilms tumour type 4" EXACT OMO:0003005 [] synonym: "WT4" RELATED ABBREVIATION [OMIM:601363] xref: MESH:C563336 {source="MONDO:equivalentTo"} xref: OMIM:601363 {source="MONDO:equivalentTo"} @@ -214369,7 +217889,9 @@ def: "The disorder is characterized by thrombocytopenia of varying severity and subset: ordo_disease {source="Orphanet:71290"} synonym: "asprin-like platelet disorder" RELATED EXCLUDE [GARD:0010352] synonym: "familial platelet disorder with associated myeloid malignancy" RELATED EXCLUDE [Orphanet:71290] +synonym: "familial platelet syndrome with predisposition to acute myelogenous leukaemia" RELATED OMO:0003005 [] synonym: "familial platelet syndrome with predisposition to acute myelogenous leukemia" RELATED EXCLUDE [Orphanet:71290] +synonym: "familial thrombocytopenia with propensity to acute myelogenous leukaemia" RELATED OMO:0003005 [] synonym: "familial thrombocytopenia with propensity to acute myelogenous leukemia" RELATED EXCLUDE [GARD:0010352] synonym: "FPD/AML syndrome" RELATED EXCLUDE [Orphanet:71290] synonym: "FPDMM" RELATED EXCLUDE [MONDO:Lexical, OMIM:601399] @@ -214377,6 +217899,7 @@ synonym: "FPS/AML syndrome" RELATED EXCLUDE [Orphanet:71290] synonym: "hereditary thrombocytopenia and hematologic cancer predisposition syndrome" EXACT CLINGEN_PREFERRED [] synonym: "platelet disorder, aspirin-like" RELATED EXCLUDE [OMIM:601399] synonym: "platelet disorder, familial, with associated myeloid malignancy" RELATED EXCLUDE [MONDO:Lexical, OMIM:601399] +synonym: "thrombocytopenia, familial, with propensity to acute myelogenous leukaemia" RELATED OMO:0003005 [] synonym: "thrombocytopenia, familial, with propensity to acute myelogenous leukemia" RELATED EXCLUDE [OMIM:601399] xref: ICD10CM:D69.4 {source="Orphanet:71290", source="Orphanet:71290/attributed", source="Orphanet:71290/ntbt"} xref: MESH:C563324 {source="MONDO:equivalentTo"} @@ -215290,11 +218813,15 @@ id: MONDO:0011112 name: Wilms tumor 5 def: "Any Wilms tumor in which the cause of the disease is a mutation in the POU6F2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "bilateral radial aplasia with Wilms tumor" RELATED [GARD:0005578] +synonym: "bilateral radial aplasia with Wilms tumour" RELATED OMO:0003005 [] synonym: "Wilms tumor 5" EXACT [MONDO:Lexical, OMIM:601583] synonym: "Wilms tumor and radial bilateral aplasia" RELATED [GARD:0005578] synonym: "Wilms tumor susceptibility-5, autosomal dominant, somatic mutation" EXACT [OMIM:601583, OMIM:genemap2] synonym: "Wilms tumor type 5" EXACT [MONDORULE:1, OMIM:601583] synonym: "Wilms tumor, susceptibility to" RELATED [OMIM:601583] +synonym: "Wilms tumour and radial bilateral aplasia" RELATED OMO:0003005 [] +synonym: "Wilms tumour susceptibility-5, autosomal dominant, somatic mutation" EXACT OMO:0003005 [] +synonym: "Wilms tumour type 5" EXACT OMO:0003005 [] synonym: "WT5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601583] xref: MESH:C536707 {source="MONDO:equivalentTo"} xref: OMIM:601583 {source="MONDO:equivalentTo"} @@ -215417,7 +218944,9 @@ id: MONDO:0011118 name: bilineal acute myeloid leukemia def: "An acute leukemia of ambiguous lineage in which there is a dual population of blasts with each population expressing markers of a distinct lineage (myeloid and lymphoid or B-and T-lymphocyte). (WHO, 2001) -- 2003" [NCIT:C6923] subset: ordo_disease {source="Orphanet:98836"} +synonym: "acute bilineal leukaemia" EXACT OMO:0003005 [] synonym: "acute bilineal leukemia" EXACT [NCIT:C6923] +synonym: "bilineal acute leukaemia" RELATED OMO:0003005 [] synonym: "bilineal acute leukemia" RELATED [Orphanet:98836] xref: ICD10CM:C95.0 {source="Orphanet:98836", source="Orphanet:98836/ntbt"} xref: NCIT:C6923 {source="MONDO:equivalentTo"} @@ -216088,6 +219617,8 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10571/spondy [Term] id: MONDO:0011149 name: premature aging syndrome, Okamoto type +synonym: "premature ageing Okamoto type" RELATED OMO:0003005 [] +synonym: "premature ageing syndrome with osteosarcoma cataracts diabetes osteoporosis erythroid macrocytosis severe developmental delay" RELATED OMO:0003005 [] synonym: "premature aging Okamoto type" RELATED [GARD:0004478] synonym: "premature aging syndrome with osteosarcoma cataracts diabetes osteoporosis erythroid macrocytosis severe developmental delay" RELATED [GARD:0004478] synonym: "premature aging syndrome, Okamoto type" EXACT [OMIM:601811] @@ -216103,6 +219634,8 @@ subset: gard_rare subset: ordo_disease {source="Orphanet:363665"} synonym: "PENTT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601812] synonym: "Penttinen-aula syndrome" RELATED [GARD:0004276] +synonym: "premature ageing syndrome Penttinen type" RELATED OMO:0003005 [] +synonym: "premature ageing syndrome, Penttinen type" EXACT OMO:0003005 [] synonym: "premature aging syndrome Penttinen type" RELATED [GARD:0004276] synonym: "premature aging syndrome, Penttinen type" EXACT [GARD:0004498, MONDO:Lexical, OMIM:601812, Orphanet:363665] synonym: "prematurely aged appearance, delayed bone maturation, acro-osteolysis, and brachydactyly" RELATED [GARD:0004276] @@ -216372,6 +219905,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0011161 name: sperm-specific antigen 1 +synonym: "fertilisation antigen 1" RELATED OMO:0003005 [] synonym: "fertilization antigen 1" RELATED [OMIM:601876] synonym: "sperm-specific antigen 1" EXACT [MONDO:Lexical, OMIM:601876] synonym: "sperm-specific antigen type 1" EXACT [MONDORULE:1, OMIM:601876] @@ -216416,8 +219950,10 @@ name: malignant hyperthermia, susceptibility to, 5 def: "Any malignant hyperthermia of anesthesia in which the cause of the disease is a mutation in the CACNA1S gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare subset: predisposition +synonym: "CACNA1S malignant hyperthermia of anaesthesia" EXACT OMO:0003005 [] synonym: "CACNA1S malignant hyperthermia of anesthesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "malignant hyperpyrexia susceptibility type 5" RELATED [GARD:0003367, MESH:C535698] +synonym: "malignant hyperthermia of anaesthesia caused by mutation in CACNA1S" EXACT OMO:0003005 [] synonym: "malignant hyperthermia of anesthesia caused by mutation in CACNA1S" EXACT [MONDO:design_pattern] synonym: "malignant hyperthermia susceptibility 5" EXACT [OMIM:601887, OMIM:genemap2] synonym: "malignant hyperthermia susceptibility type 5" RELATED [GARD:0003367] @@ -216819,6 +220355,7 @@ name: trimethylaminuria def: "A rare inborn error of metabolism characterized by the presence of large amounts of trimethylamine in urine, sweat, and breath, resulting in a fishy body odor in affected individuals." [Orphanet:468726] synonym: "fish malodor syndrome" RELATED [GARD:0006447] synonym: "fish odor syndrome" EXACT [GARD:0006447, Orphanet:35056] +synonym: "fish odour syndrome" EXACT OMO:0003005 [] synonym: "fish-odor syndrome" EXACT [OMIM:602079] synonym: "stale fish syndrome" RELATED [GARD:0006447] synonym: "TMAU" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602079] @@ -216899,6 +220436,7 @@ synonym: "corneal dystrophy Thiel Behnke type" RELATED [GARD:0009275] synonym: "corneal dystrophy, honeycomb-Shaped" RELATED [OMIM:602082] synonym: "corneal dystrophy, Thiel-Behnke type" RELATED [MONDO:Lexical, OMIM:602082] synonym: "curly fiber corneal dystrophy" EXACT [Orphanet:98960] +synonym: "curly fibre corneal dystrophy" EXACT OMO:0003005 [] synonym: "honeycomb corneal dystrophy" EXACT [Orphanet:98960] synonym: "TBCD" EXACT ABBREVIATION [DOID:0060455, GARD:0009275, Orphanet:98960] synonym: "Thiel Behnke corneal dystrophy" RELATED [GARD:0009275] @@ -217712,11 +221250,13 @@ synonym: "SCID due to artemis deficiency" EXACT [DOID:0090012] synonym: "SCID due to DCLRE1C deficiency" EXACT [DOID:0090012, Orphanet:275] synonym: "SCID, Athabascan type" EXACT [DOID:0090012, Orphanet:275] synonym: "SCID, Athabaskan type" EXACT [DOID:0090012, Orphanet:275] +synonym: "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionising radiation" RELATED OMO:0003005 [] synonym: "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation" RELATED [OMIM:602450] synonym: "severe combined immunodeficiency (disease) caused by mutation in DCLRE1C" EXACT [] synonym: "severe combined immunodeficiency due to ARTEMIS deficiency" EXACT [Orphanet:275] synonym: "severe combined immunodeficiency due to artemis deficiency" EXACT [DOID:0090012, MONDO:0000570] synonym: "severe combined immunodeficiency due to DCLRE1C deficiency" EXACT CLINGEN_PREFERRED [DOID:0090012] +synonym: "severe combined immunodeficiency with sensitivity to ionising radiation" RELATED OMO:0003005 [] synonym: "severe combined immunodeficiency with sensitivity to ionizing radiation" RELATED [OMIM:602450] synonym: "severe combined immunodeficiency, Athabascan type" RELATED [DOID:0090012, Orphanet:275] synonym: "severe combined immunodeficiency, Athabaskan type" RELATED [DOID:0090012, Orphanet:275] @@ -217849,6 +221389,7 @@ name: febrile seizures, familial, 2 synonym: "convulsions, familial febrile, 2" RELATED [OMIM:602477] synonym: "FEB2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:602477] synonym: "febrile seizures, familial, 2" EXACT [MONDO:Lexical, OMIM:602477] +synonym: "generalised epilepsy with febrile seizures plus, type 11" EXACT OMO:0003005 [] synonym: "generalized epilepsy with febrile seizures plus, type 11" EXACT [OMIM:602477, OMIM:genemap2] xref: DOID:0111310 {source="MONDO:equivalentTo"} xref: MESH:C566541 {source="MONDO:equivalentTo"} @@ -218520,10 +222061,13 @@ synonym: "dystonia 6" RELATED [GARD:0009630] synonym: "dystonia 6, torsion" RELATED [MONDO:Lexical, OMIM:602629] synonym: "DYT-THAP1" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/, MONDO:cjm] synonym: "DYT6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:602629, Orphanet:98806] +synonym: "generalised cervical and upper-limb-onset dystonia" EXACT OMO:0003005 [] +synonym: "generalised isolated dystonia caused by mutation in THAP1" EXACT OMO:0003005 [] synonym: "generalized cervical and upper-limb-onset dystonia" EXACT [Orphanet:98806] synonym: "generalized isolated dystonia caused by mutation in THAP1" EXACT [MONDO:design_pattern] synonym: "idiopathic torsion dystonia of mixed type" EXACT [Orphanet:98806] synonym: "primary dystonia, DYT6 type" RELATED [Orphanet:98806] +synonym: "THAP1 generalised isolated dystonia" EXACT OMO:0003005 [] synonym: "THAP1 generalized isolated dystonia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "torsion dystonia adult onset mixed type" RELATED [GARD:0009630] synonym: "torsion dystonia type 6" EXACT [DOID:0090039, MONDORULE:1] @@ -218961,6 +222505,7 @@ synonym: "Nonsmall cell lung cancer suppressor" RELATED [OMIM:603040] synonym: "Tsg11" RELATED [OMIM:603040] synonym: "tumor suppressor gene on chromosome 11" EXACT [OMIM:603040] synonym: "tumor suppressor Gene on chromosome type 11" EXACT [MONDORULE:2, OMIM:603040] +synonym: "tumour suppressor Gene on chromosome type 11" EXACT OMO:0003005 [] xref: OMIM:603040 {source="MONDO:equivalentTo"} xref: UMLS:C1864232 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:603040"} is_a: MONDO:0003847 ! hereditary disease @@ -219684,6 +223229,7 @@ id: MONDO:0011325 name: Fanconi anemia complementation group F def: "Fanconi anemia caused by mutations of the FANCF gene. This gene encodes a polypeptide with homology to the prokaryotic RNA-binding protein ROM." [NCIT:C125707] synonym: "FANCF" EXACT ABBREVIATION [DOID:0111088, MONDO:Lexical, OMIM:603467] +synonym: "Fanconi anaemia complementation group type F" EXACT OMO:0003005 [] synonym: "Fanconi anemia complementation group F" EXACT CLINGEN_PREFERRED [] synonym: "Fanconi anemia complementation group type F" EXACT [DOID:0111088, MONDORULE:1] synonym: "Fanconi anemia, complementation group F" RELATED [MONDO:Lexical, OMIM:603467] @@ -220470,10 +224016,13 @@ synonym: "germ cell neoplasm of ovary" EXACT [DOID:2156, NCIT:C3873] synonym: "germ cell neoplasm of the ovary" EXACT [NCIT:C3873] synonym: "germ cell tumor of ovary" EXACT [NCIT:C3873] synonym: "germ cell tumor of the ovary" EXACT [NCIT:C3873] +synonym: "germ cell tumour of ovary" EXACT OMO:0003005 [] +synonym: "germ cell tumour of the ovary" EXACT OMO:0003005 [] synonym: "ovarian germ cell cancer" RELATED [OMIM:603737] synonym: "ovarian germ cell neoplasm" EXACT [NCIT:C3873] synonym: "ovarian germ cell tumor" EXACT [DOID:2156, NCIT:C3873] synonym: "ovary germ cell tumor" EXACT [MONDO:patterns/location] +synonym: "ovary germ cell tumour" EXACT OMO:0003005 [] xref: DOID:2156 {source="MONDO:equivalentTo"} xref: EFO:1000419 {source="MONDO:equivalentTo"} xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -220797,6 +224346,9 @@ name: sickle cell anemia def: "Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur." [Orphanet:232] subset: ordo_disease {source="Orphanet:232"} synonym: "drepanocytosis" EXACT [DOID:10923] +synonym: "Haemoglobin S disease" RELATED OMO:0003005 [] +synonym: "Haemoglobin S disease without crisis" EXACT OMO:0003005 [] +synonym: "haemoglobin SC disease" EXACT OMO:0003005 [] synonym: "Hb SC disease" EXACT [DOID:10923] synonym: "Hb-S/Hb-C disease" EXACT [DOID:10923] synonym: "Hb-SS disease without crisis" EXACT [DOID:10923] @@ -220807,6 +224359,7 @@ synonym: "hemoglobin SC disease" EXACT [DOID:10923] synonym: "sickle cell anemia" EXACT [OMIM:603903] synonym: "sickle cell disease" EXACT [Orphanet:232] synonym: "sickle-cell/Hb-C disease without crisis" EXACT [DOID:10923, ICD9CM:282.63] +synonym: "sickling disorder due to Haemoglobin S" EXACT OMO:0003005 [] synonym: "sickling disorder due to Hemoglobin S" EXACT [NCIT:C34383] xref: DOID:10923 {source="MONDO:equivalentTo"} xref: EFO:1001797 {source="MONDO:equivalentTo"} @@ -220898,19 +224451,26 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011385 name: intervertebral disk degenerative disorder def: "Any disease of a degenerative nature that affects the intervertebral disk." [NCIT:C26983] +synonym: "cervical disc degenerative disease" NARROW OMO:0003005 [] synonym: "cervical disk degenerative disease" NARROW [DOID:90, NCIT:C27156] +synonym: "degenerative disc disease" EXACT OMO:0003005 [] synonym: "degenerative disk disease" EXACT [DOID:90] +synonym: "degenerative disorder of intervertebral disc" EXACT OMO:0003005 [] synonym: "degenerative disorder of intervertebral disk" EXACT [MONDO:design_pattern] synonym: "IDD" EXACT ABBREVIATION [OMIM:603932] synonym: "intervertebral Disc Degeneration" EXACT [NCIT:C26983] +synonym: "intervertebral disc degeneration" EXACT OMO:0003005 [] synonym: "intervertebral Disc degenerative disease" EXACT [NCIT:C26983] synonym: "intervertebral Disc degenerative disorder" EXACT [NCIT:C26983] +synonym: "intervertebral disc disease" EXACT OMO:0003005 [] synonym: "intervertebral disk degeneration" EXACT [DOID:90] synonym: "intervertebral disk degenerative disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "intervertebral disk disease" EXACT [MONDO:Lexical, OMIM:603932] +synonym: "lumbar disc degeneration" NARROW OMO:0003005 [] synonym: "lumbar disk degeneration" NARROW [DOID:90] synonym: "vertebral Disc degenerative disease" EXACT [NCIT:C26983] synonym: "vertebral Disc degenerative disorder" EXACT [NCIT:C26983] +synonym: "vertebral disc disease" EXACT OMO:0003005 [] synonym: "vertebral disk disease" EXACT [DOID:90] xref: DOID:90 {source="EFO:0004994", source="MONDO:equivalentTo"} xref: EFO:0004994 {source="DOID:90"} @@ -222442,6 +226002,8 @@ synonym: "Mari type alopecia universalis congenita" RELATED [GARD:0008178] synonym: "total hypotrichosis, Mari type" RELATED [GARD:0008178] synonym: "total Mari type hypotrichosis," EXACT [DOID:0110704] synonym: "Wh/Ht" RELATED [OMIM:604379] +synonym: "woolly hair, autosomal recessive 2 with or without hypotrichosis" EXACT OMO:0003005 [] +synonym: "woolly hair, autosomal recessive 2, with or without hypotrichosis" RELATED OMO:0003005 [] synonym: "wooly hair, autosomal recessive 2 with or without hypotrichosis" EXACT [OMIM:604379, OMIM:genemap2] synonym: "wooly hair, autosomal recessive 2, with or without hypotrichosis" RELATED [OMIM:604379] xref: DOID:0110704 {source="MONDO:equivalentTo"} @@ -224495,6 +228057,7 @@ id: MONDO:0011549 name: hypotrichosis 1 def: "Any hypotrichosis in which the cause of the disease is a mutation in the APCDD1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "APCDD1 hypotrichosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +synonym: "hereditary generalised hypotrichosis simplex" EXACT OMO:0003005 [] synonym: "hereditary generalized hypotrichosis simplex" EXACT [DOID:0110698] synonym: "HHS" BROAD ABBREVIATION [DOID:0110698] synonym: "HTS" EXACT ABBREVIATION [DOID:0110698, OMIM:605389] @@ -225164,15 +228727,25 @@ def: "A cardioectodermal syndrome that is often associated with the gene DSP, en subset: gard_rare {source="GARD:0005595"} subset: ordo_disease {source="Orphanet:65282"} synonym: "arrhythmogenic cardiomyopathy with wooly hair and keratoderma" EXACT CLINGEN_PREFERRED [] +synonym: "cardiomyopathy dilated with woolly hair and keratoderma" RELATED OMO:0003005 [] synonym: "cardiomyopathy dilated with wooly hair and keratoderma" RELATED [GARD:0005595] +synonym: "cardiomyopathy, dilated, with woolly hair and keratoderma" RELATED OMO:0003005 [] synonym: "cardiomyopathy, dilated, with wooly hair and keratoderma" RELATED [MONDO:Lexical, OMIM:605676] synonym: "Carvajal syndrome" EXACT [DOID:0090128, Orphanet:65282] synonym: "DCWHK" EXACT ABBREVIATION [DOID:0090128, MONDO:Lexical, OMIM:605676] +synonym: "dilated cardiomyopathy with woolly hair and keratoderma" EXACT OMO:0003005 [] synonym: "dilated cardiomyopathy with wooly hair and keratoderma" EXACT [https://www.clinicalgenome.org/affiliation/40003/] +synonym: "epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy" RELATED OMO:0003005 [] synonym: "epidermolytic palmoplantar keratoderma wooly hair and dilated cardiomyopathy" RELATED [GARD:0005595] +synonym: "keratoderma with woolly hair type II" EXACT OMO:0003005 [] synonym: "keratoderma with wooly hair type II" EXACT [Orphanet:65282] synonym: "KWWH type II" EXACT [Orphanet:65282] +synonym: "palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair" EXACT OMO:0003005 [] synonym: "palmoplantar keratoderma with left ventricular cardiomyopathy and wooly hair" EXACT [DOID:0090128, OMIM:605676] +synonym: "woolly hair - palmoplantar keratoderma - dilated cardiomyopathy" RELATED OMO:0003005 [] +synonym: "woolly hair - palmoplantar keratoderma - dilated cardiomyopathy syndrome" RELATED OMO:0003005 [] +synonym: "woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome" EXACT OMO:0003005 [] +synonym: "woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome" EXACT OMO:0003005 [] synonym: "wooly hair - palmoplantar keratoderma - dilated cardiomyopathy" RELATED [GARD:0005595] synonym: "wooly hair - palmoplantar keratoderma - dilated cardiomyopathy syndrome" RELATED [GARD:0005595] synonym: "wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome" EXACT [Orphanet:65282] @@ -225552,6 +229125,7 @@ synonym: "birdshot retinochoroiditis" EXACT [DOID:0111079, Orphanet:179] synonym: "birdshot retinochoroidopathy" EXACT [DOID:0111079, Orphanet:179] synonym: "BSCR" EXACT ABBREVIATION [DOID:0111079] synonym: "Bscr" RELATED [OMIM:605808] +synonym: "multiple small, cream-colored lesions, symmetrically scattered mainly around the optic disc" RELATED OMO:0003005 [] synonym: "multiple small, cream-colored lesions, symmetrically scattered mainly around the optic disk" RELATED [GARD:0005926] synonym: "vitiliginous choroiditis" EXACT [DOID:0111079, Orphanet:179] xref: DOID:0111079 {source="MONDO:equivalentTo"} @@ -225600,6 +229174,7 @@ def: "Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subty subset: ordo_disease {source="Orphanet:247598"} synonym: "cholestasis, neonatal intrahepatic, caused by citrin deficiency" RELATED [OMIM:605814] synonym: "citrullinemia, type II, neonatal-onset" RELATED [OMIM:605814] +synonym: "citrullinemia, type II, neonatal-onset, with or without failure to thrive and dyslipidaemia" RELATED OMO:0003005 [] synonym: "citrullinemia, type II, neonatal-onset, with or without failure to thrive and dyslipidemia" RELATED [OMIM:605814] synonym: "neonatal intrahepatic cholestasis caused by citrin deficiency" EXACT [Orphanet:247598] synonym: "neonatal intrahepatic cholestasis due to citrin deficiency" EXACT CLINGEN_PREFERRED [] @@ -226333,6 +229908,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011636 name: Diamond-Blackfan anemia 2 subset: gard_rare +synonym: "anaemia Diamond-Blackfan 2" RELATED OMO:0003005 [] synonym: "anemia Diamond-Blackfan 2" RELATED [GARD:0008283] synonym: "DBA2" RELATED ABBREVIATION [GARD:0008283, MESH:C536130, MONDO:Lexical, OMIM:606129] synonym: "Diamond-Blackfan anemia 2" EXACT [MESH:C536130, MONDO:Lexical, OMIM:606129] @@ -226394,9 +229970,12 @@ name: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS28 gene." [MONDO:patterns/disease_series_by_gene] comment: Not in the OMIM series 105650. {source="OMIM:606164"} synonym: "DBA15" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606164] +synonym: "Diamond Blackfan anaemia 15 with mandibulofacial dysostosis" EXACT OMO:0003005 [] synonym: "Diamond Blackfan anemia 15 with mandibulofacial dysostosis" EXACT [OMIM:606164, OMIM:genemap2] +synonym: "Diamond-Blackfan anaemia caused by mutation in RPS28" EXACT OMO:0003005 [] synonym: "Diamond-Blackfan anemia 15 with mandibulofacial dysostosis" EXACT [MONDO:Lexical, OMIM:606164] synonym: "Diamond-Blackfan anemia caused by mutation in RPS28" EXACT [MONDO:design_pattern] +synonym: "RPS28 Diamond-Blackfan anaemia" EXACT OMO:0003005 [] synonym: "RPS28 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111894 {source="MONDO:equivalentTo"} xref: OMIM:606164 {source="MONDO:equivalentTo"} @@ -226681,6 +230260,7 @@ synonym: "alveolar soft-part sarcoma" EXACT [Orphanet:163699] synonym: "alveolar soft-tissue sarcoma" RELATED [Orphanet:163699] synonym: "ASPS" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C3750, OMIM:606243, Orphanet:163699] synonym: "childhood alveolar soft part sarcoma" NARROW [DOID:4239] +synonym: "paediatric alveolar soft Part sarcoma" NARROW OMO:0003005 [] synonym: "pediatric alveolar soft Part sarcoma" NARROW [DOID:4239, NCIT:C8092] xref: DOID:4239 {source="MONDO:equivalentTo", source="EFO:0007143"} xref: EFO:0007143 {source="MONDO:equivalentTo"} @@ -228018,8 +231598,11 @@ synonym: "gastrointestinal stromal tumor (gist)" EXACT [NCIT:C3868] synonym: "gastrointestinal stromal tumor, familial, isolated cases" EXACT [OMIM:606764, OMIM:genemap2] synonym: "gastrointestinal stromal tumor, isolated cases" EXACT [OMIM:606764, OMIM:genemap2] synonym: "gastrointestinal stromal tumors" RELATED [GARD:0008598] +synonym: "gastrointestinal stromal tumour (gist)" EXACT OMO:0003005 [] +synonym: "gastrointestinal stromal tumours" RELATED OMO:0003005 [] synonym: "gist" EXACT [DOID:9253, MONDO:Lexical, OMIM:606764, Orphanet:44890] synonym: "stromal tumor of gastrointestinal tract" EXACT [DOID:9253, NCIT:C3868] +synonym: "stromal tumour of gastrointestinal tract" EXACT OMO:0003005 [] xref: DOID:9253 {source="MONDO:equivalentTo"} xref: ICD10CM:C26.9 {source="Orphanet:44890", source="Orphanet:44890/attributed", source="Orphanet:44890/ntbt"} xref: ICDO:8936/1 {source="NCIT:C3868"} @@ -228468,6 +232051,7 @@ synonym: "Carney-Stratakis syndrome" EXACT [OMIM:606864] synonym: "gist-paraganglioma dyad" EXACT [Orphanet:97286] synonym: "paraganglioma and gastric stromal sarcoma" EXACT [OMIM:606864, Orphanet:97286] synonym: "paraganglioma and gastrointestinal stromal tumor" RELATED [OMIM:606864] +synonym: "paraganglioma and gastrointestinal stromal tumour" RELATED OMO:0003005 [] synonym: "paraganglioma and gist" RELATED [GARD:0010643] xref: DOID:0080533 {source="MONDO:equivalentTo"} xref: ICD10CM:D44.8 {source="Orphanet:97286/attributed", source="Orphanet:97286/ntbt", source="Orphanet:97286"} @@ -229914,6 +233498,7 @@ id: MONDO:0011807 name: systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1 subset: predisposition synonym: "SLEH1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607279] +synonym: "systemic lupus erythematosus with hemolytic anaemia" EXACT OMO:0003005 [] synonym: "systemic lupus erythematosus with hemolytic anemia" EXACT [OMIM:607279, OMIM:genemap2] synonym: "systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:607279] synonym: "systemic lupus erythematosus, hemolytic Anemia-related" EXACT [OMIM:607279] @@ -230954,6 +234539,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0011853 name: Camptosynpolydactyly, complex +synonym: "camptopolydactyly, disorganisation type" RELATED OMO:0003005 [] synonym: "camptopolydactyly, disorganization type" RELATED [OMIM:607539] synonym: "camptosynpolydactyly, complex" EXACT [OMIM:607539] synonym: "CCSPD" RELATED ABBREVIATION [OMIM:607539] @@ -231366,13 +234952,16 @@ id: MONDO:0011875 name: epilepsy, idiopathic generalized, susceptibility to, 11 def: "An inherited susceptibility or predisposition to developing epilepsy, idiopathic generalized, in which the cause of the disease is a mutation in the CLCN2 gene." [MONDO:patterns/disease_series_by_gene, MONDO:patterns/inherited_susceptibility] subset: predisposition +synonym: "CLCN2 generalised epilepsy" EXACT OMO:0003005 [] synonym: "CLCN2 generalized epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "EIG11" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607628] synonym: "epilepsy, idiopathic generalized, susceptibility to, 11" EXACT [MONDO:Lexical, OMIM:607628] synonym: "epilepsy, idiopathic generalized, susceptibility to, type 11" EXACT [MONDORULE:2, OMIM:607628] synonym: "epilepsy, juvenile absence, susceptibility to, 2" RELATED [OMIM:607628] synonym: "epilepsy, juvenile myoclonic, susceptibility to, 8" RELATED [OMIM:607628] +synonym: "generalised epilepsy caused by mutation in CLCN2" EXACT OMO:0003005 [] synonym: "generalized epilepsy caused by mutation in CLCN2" EXACT [MONDO:design_pattern] +synonym: "susceptibility to idiopathic generalised epilepsy 11" RELATED OMO:0003005 [] synonym: "susceptibility to idiopathic generalized epilepsy 11" RELATED [OMIM:607628] xref: DOID:0111312 {source="MONDO:equivalentTo"} xref: OMIM:607628 {source="MONDO:equivalentTo"} @@ -231524,6 +235113,7 @@ name: skin fragility-woolly hair-palmoplantar keratoderma syndrome subset: gard_rare {source="GARD:0005231"} subset: ordo_disease {source="Orphanet:293165"} synonym: "SFWHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607655] +synonym: "skin fragility woolly hair syndrome" RELATED OMO:0003005 [] synonym: "skin fragility wooly hair syndrome" RELATED [GARD:0005231] synonym: "skin fragility-woolly hair syndrome" RELATED [MONDO:Lexical, OMIM:607655] synonym: "skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome" EXACT [Orphanet:293165] @@ -231743,9 +235333,12 @@ synonym: "ECA2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607681] synonym: "epilepsy, childhood absence, susceptibility to, 2" RELATED [MONDO:Lexical, OMIM:607681] synonym: "epilepsy, childhood absence, susceptibility to, type 2" RELATED [MONDORULE:1, OMIM:607681] synonym: "GABRG2 childhood absence epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +synonym: "GABRG2 generalised epilepsy with febrile seizures plus" EXACT OMO:0003005 [] synonym: "GABRG2 generalized epilepsy with febrile seizures plus" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Gefs+, type 3" RELATED [OMIM:611277] synonym: "GEFSP3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611277] +synonym: "generalised epilepsy with febrile seizures plus caused by mutation in GABRG2" EXACT OMO:0003005 [] +synonym: "generalised epilepsy with febrile seizures plus, type 3" EXACT OMO:0003005 [] synonym: "generalized epilepsy with febrile seizures plus caused by mutation in GABRG2" EXACT [MONDO:design_pattern] synonym: "generalized epilepsy with febrile seizures plus, type 3" EXACT [MONDO:Lexical, OMIM:611277] synonym: "susceptibility to childhood absence epilepsy 2" RELATED [OMIM:607681] @@ -231772,12 +235365,15 @@ id: MONDO:0011892 name: epilepsy, idiopathic generalized, susceptibility to, 9 def: "Any generalized epilepsy in which the cause of the disease is a mutation in the CACNB4 gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition +synonym: "CACNB4 generalised epilepsy" EXACT OMO:0003005 [] synonym: "CACNB4 generalized epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "EIG9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607682] synonym: "epilepsy, idiopathic generalized, susceptibility to, 9" EXACT [MONDO:Lexical, OMIM:607682] synonym: "epilepsy, idiopathic generalized, susceptibility to, type 9" EXACT [MONDORULE:1, OMIM:607682] synonym: "epilepsy, juvenile myoclonic, susceptibility to, 6" RELATED [OMIM:607682] +synonym: "generalised epilepsy caused by mutation in CACNB4" EXACT OMO:0003005 [] synonym: "generalized epilepsy caused by mutation in CACNB4" EXACT [MONDO:design_pattern] +synonym: "susceptibility to idiopathic generalised epilepsy 9" RELATED OMO:0003005 [] synonym: "susceptibility to idiopathic generalized epilepsy 9" RELATED [OMIM:607682] xref: DOID:0111323 {source="MONDO:equivalentTo"} xref: OMIM:607682 {source="MONDO:equivalentTo"} @@ -232175,11 +235771,15 @@ id: MONDO:0011908 name: juvenile myelomonocytic leukemia def: "A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001)" [NCIT:C9233] subset: ordo_disease {source="Orphanet:86834"} +synonym: "chronic myelomonocytic leukaemia" BROAD OMO:0003005 [] synonym: "chronic myelomonocytic leukemia" BROAD [NCIT:C9233] synonym: "JCML" EXACT ABBREVIATION [NCIT:C9233] synonym: "JMML" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C9233, OMIM:607785, Orphanet:86834] +synonym: "juvenile chronic myelogenous leukaemia" EXACT OMO:0003005 [] synonym: "juvenile chronic myelogenous leukemia" EXACT [NCIT:C9233] +synonym: "juvenile chronic myeloid leukaemia" EXACT OMO:0003005 [] synonym: "juvenile chronic myeloid leukemia" EXACT [NCIT:C9233] +synonym: "juvenile chronic myelomonocytic leukaemia" EXACT OMO:0003005 [] synonym: "juvenile chronic myelomonocytic leukemia" EXACT [Orphanet:86834] synonym: "juvenile myelomonocytic leukemia" EXACT [MONDO:Lexical, NCIT:C9233, OMIM:607785] synonym: "juvenile myelomonocytic leukemia, autosomal dominant, somatic mutation" EXACT [OMIM:607785, OMIM:genemap2] @@ -232756,6 +236356,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011932 name: hypotrichosis 6 def: "Any hypotrichosis in which the cause of the disease is a mutation in the DSG4 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal recessive localised hypotrichosis" EXACT OMO:0003005 [] synonym: "autosomal recessive localized hypotrichosis" EXACT [DOID:0110703] synonym: "DSG4 hypotrichosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Htl" RELATED [OMIM:607903] @@ -233062,6 +236663,7 @@ def: "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD) subset: gard_rare subset: ordo_clinical_subtype {source="Orphanet:85212"} synonym: "fetal Gaucher disease" EXACT [DOID:0110960] +synonym: "foetal Gaucher disease" EXACT OMO:0003005 [] synonym: "Gaucher disease collodion type" EXACT [GARD:0010675] synonym: "Gaucher disease perinatal lethal" EXACT CLINGEN_PREFERRED [GARD:0010675] synonym: "Gaucher disease, collodion type" EXACT [DOID:0110960, OMIM:608013] @@ -233409,6 +237011,7 @@ synonym: "malignant neoplasm of endometrium" EXACT [DOID:1380, MONDO:patterns/ca synonym: "neoplasm of endometrium" BROAD [DOID:1380] synonym: "primary malignant neoplasm of endometrium" EXACT [DOID:1380] synonym: "tumor of endometrium" BROAD [DOID:1380, NCIT:C3012] +synonym: "tumour of endometrium" BROAD OMO:0003005 [] xref: DOID:1380 {source="MONDO:equivalentTo"} xref: EFO:0004230 {source="MONDO:equivalentTo", source="DOID:1380"} xref: ICD10CM:C54.1 {source="DOID:1380"} @@ -234083,6 +237686,7 @@ synonym: "hereditary spastic paraplegia type 25" EXACT [DOID:0110776, MONDORULE: synonym: "spastic paraplegia 25" RELATED [GARD:0009582] synonym: "spastic paraplegia 25, autosomal recessive" RELATED [MONDO:Lexical, OMIM:608220] synonym: "SPG25" EXACT ABBREVIATION [DOID:0110776, MONDO:Lexical, OMIM:608220, Orphanet:101005] +synonym: "spinal disc herniation with autosomal recessive spastic paraplegia" RELATED OMO:0003005 [] synonym: "spinal disk herniation with autosomal recessive spastic paraplegia" RELATED [GARD:0009582] xref: DOID:0110776 {source="MONDO:equivalentTo"} xref: ICD10CM:G11.4 {source="DOID:0110776", source="Orphanet:101005/attributed", source="Orphanet:101005/ntbt", source="Orphanet:101005"} @@ -234152,16 +237756,24 @@ id: MONDO:0011996 name: chronic myelogenous leukemia, BCR-ABL1 positive def: "A chronic myeloproliferative neoplasm characterized by the expression of the BCR-ABL1 fusion gene. It presents with neutrophilic leukocytosis. It can appear at any age, but it mostly affects middle aged and older individuals. Patients usually present with fatigue, weight loss, anemia, night sweats, and splenomegaly. If untreated, it follows a biphasic or triphasic natural course; an initial indolent chronic phase which is followed by an accelerated phase, a blast phase, or both. Allogeneic stem cell transplantation and tyrosine kinase inhibitors delay disease progression and prolong overall survival." [NCIT:C3174] subset: ordo_disease {source="Orphanet:521"} +synonym: "BCR-ABL Positive chronic myelogenous leukaemia" EXACT OMO:0003005 [] synonym: "BCR-ABL Positive chronic myelogenous leukemia" EXACT [NCIT:C3174] +synonym: "chronic granulocytic leukaemia" EXACT OMO:0003005 [] synonym: "chronic granulocytic leukemia" EXACT [DOID:8552, NCIT:C3174, Orphanet:521] +synonym: "chronic myelocytic leukaemia" EXACT OMO:0003005 [] synonym: "chronic myelocytic leukemia" EXACT [NCIT:C3174] +synonym: "chronic myelogenous leukaemia" EXACT OMO:0003005 [] +synonym: "chronic myelogenous leukaemia (CML)" EXACT OMO:0003005 [] synonym: "chronic myelogenous leukemia" EXACT [DOID:8552, NCIT:C3174, Orphanet:521] synonym: "chronic myelogenous leukemia (CML)" EXACT [NCIT:C3174] synonym: "chronic myelogenous leukemia, BCR-ABL1 Positive" EXACT [NCIT:C3174] synonym: "chronic myelogenous leukemias" EXACT [NCIT:C3174] +synonym: "chronic myeloid leukaemia" EXACT OMO:0003005 [] synonym: "chronic myeloid leukemia" EXACT [DOID:8552, NCIT:C3174] synonym: "CML" EXACT ABBREVIATION [DOID:8552, MONDO:Lexical, NCIT:C3174, OMIM:608232, Orphanet:521] +synonym: "CML - chronic myelogenous leukaemia" EXACT OMO:0003005 [] synonym: "CML - chronic myelogenous leukemia" EXACT [DOID:8552, NCIT:C3174] +synonym: "hematopoeitic - chronic myelocytic leukaemia (CML)" EXACT OMO:0003005 [] synonym: "hematopoeitic - chronic myelocytic leukemia (CML)" EXACT [NCIT:C3174] synonym: "leukemia, chronic myelogenous" RELATED [OMIM:608232] synonym: "leukemia, chronic myeloid" RELATED [MONDO:Lexical, OMIM:608232] @@ -234356,6 +237968,7 @@ synonym: "carcinoma of the parathyroid gland" EXACT [NCIT:C4906] synonym: "malignant neoplasm of parathyroid gland" BROAD [DOID:1540, ICD9CM:194.1] synonym: "malignant neoplasm of the parathyroid" BROAD [DOID:1540, NCIT:C9322] synonym: "malignant tumor of parathyroid gland" BROAD EXCLUDE [DOID:1540] +synonym: "malignant tumour of parathyroid gland" BROAD OMO:0003005 [] synonym: "neoplasm of parathyroid gland" BROAD EXCLUDE [DOID:1540] synonym: "parathyroid adenocarcinoma" EXACT [NCIT:C4906] synonym: "parathyroid cancer" BROAD [NCIT:C4906] @@ -235593,6 +239206,7 @@ id: MONDO:0012071 name: congenital generalized lipodystrophy type 1 def: "Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the AGPAT2 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare +synonym: "AGPAT2 congenital generalised lipodystrophy (disease)" EXACT OMO:0003005 [] synonym: "AGPAT2 congenital generalized lipodystrophy (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "AGPAT2-related Brunzell syndrome" RELATED [GARD:0000084] synonym: "Berardinelli-Seip congenital lipodystrophy type 1" RELATED [GARD:0000084] @@ -235601,6 +239215,7 @@ synonym: "Brunzell syndrome AGPAT2-related" EXACT [DOID:0111135] synonym: "Brunzell syndrome, AGPAT2-related" RELATED [OMIM:608594] synonym: "BSCL1" EXACT ABBREVIATION [DOID:0111135, GARD:0000084] synonym: "CGL1" EXACT ABBREVIATION [DOID:0111135, MONDO:Lexical, OMIM:608594] +synonym: "congenital generalised lipodystrophy (disease) caused by mutation in AGPAT2" EXACT OMO:0003005 [] synonym: "congenital generalized lipodystrophy (disease) caused by mutation in AGPAT2" EXACT [] synonym: "congenital generalized lipodystrophy type 1" EXACT CLINGEN_PREFERRED [] synonym: "lipodystrophy, Berardinelli-Seip congenital, type 1" RELATED [OMIM:608594] @@ -236825,6 +240440,7 @@ synonym: "familial avascular necrosis of the femoral head" RELATED [GARD:0010914 synonym: "familial osteonecrosis of the femoral head" EXACT [Orphanet:86820] synonym: "femoral head, aseptic Necrosis of" RELATED [OMIM:608805] synonym: "femoral head, avascular Necrosis of" RELATED [OMIM:608805] +synonym: "ischaemic Necrosis of femoral head" RELATED OMO:0003005 [] synonym: "ischemic Necrosis of femoral head" RELATED [OMIM:608805] synonym: "osteonecrosis of femoral head" RELATED [OMIM:608805] synonym: "primary avascular necrosis of the femoral head" RELATED [GARD:0010914] @@ -238036,6 +241652,7 @@ id: MONDO:0012186 name: Fanconi anemia complementation group I def: "Fanconi anemia caused by mutations in the FANCI gene, encoding Fanconi anemia group I protein." [NCIT:C129026] synonym: "FANCI" EXACT ABBREVIATION [DOID:0111091, MONDO:Lexical, OMIM:609053] +synonym: "Fanconi anaemia complementation group type I" EXACT OMO:0003005 [] synonym: "Fanconi anemia complementation group I" EXACT CLINGEN_PREFERRED [] synonym: "Fanconi anemia complementation group type I" EXACT [DOID:0111091, MONDORULE:1] synonym: "Fanconi Anemia, complementation Group 1" RELATED [OMIM:609053] @@ -238055,6 +241672,7 @@ id: MONDO:0012187 name: Fanconi anemia complementation group J def: "Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein." [NCIT:C129027] synonym: "FANCJ" EXACT ABBREVIATION [DOID:0111097, MONDO:Lexical, OMIM:609054] +synonym: "Fanconi anaemia complementation group type J" EXACT OMO:0003005 [] synonym: "Fanconi anemia complementation group J" EXACT CLINGEN_PREFERRED [] synonym: "Fanconi anemia complementation group type J" EXACT [DOID:0111097, MONDORULE:1] synonym: "Fanconi anemia, complementation group J" RELATED [MONDO:Lexical, OMIM:609054] @@ -238255,12 +241873,16 @@ id: MONDO:0012197 name: idiopathic aplastic anemia def: "Aplastic anemia without a known cause." [NCIT:C61230] subset: ordo_disease {source="Orphanet:88"} +synonym: "anaemia aplastic" RELATED OMO:0003005 [] synonym: "anemia aplastic" RELATED [GARD:0005836] +synonym: "aplastic anaemia" RELATED OMO:0003005 [] +synonym: "aplastic anaemia idiopathic" RELATED OMO:0003005 [] synonym: "aplastic anemia" RELATED [OMIM:609135] synonym: "aplastic anemia idiopathic" RELATED [GARD:0005836] synonym: "aplastic Anemia, susceptibility to" RELATED [OMIM:609135] synonym: "idiopathic aplastic aplasia" EXACT [NCIT:C61230] synonym: "idiopathic bone marrow failure" EXACT [Orphanet:88] +synonym: "secondary aplastic anaemia" RELATED OMO:0003005 [] synonym: "secondary aplastic anemia" RELATED [GARD:0005836] xref: ICD10CM:D61.0 {source="MONDO:relatedTo", source="Orphanet:88", source="Orphanet:88/e"} xref: ICD10CM:D61.3 {source="MONDO:equivalentTo"} @@ -239434,12 +243056,15 @@ def: "Any familial rhabdoid tumor in which the cause of the disease is a mutatio synonym: "At/RT" RELATED [OMIM:609322] synonym: "brain tumor, posterior fossa, of infancy, familial" RELATED [OMIM:609322] synonym: "familial rhabdoid tumor caused by mutation in SMARCB1" EXACT [MONDO:design_pattern] +synonym: "familial rhabdoid tumour caused by mutation in SMARCB1" EXACT OMO:0003005 [] synonym: "malignant rhabdoid tumor, somatic" RELATED [OMIM:609322] synonym: "rhabdoid tumor predisposition syndrome 1" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:609322] synonym: "rhabdoid tumor predisposition syndrome type 1" EXACT [MONDORULE:1, OMIM:609322] synonym: "rhabdoid tumors, somatic" EXACT [OMIM:609322, OMIM:genemap2] +synonym: "rhabdoid tumour predisposition syndrome type 1" EXACT OMO:0003005 [] synonym: "RTPS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609322] synonym: "SMARCB1 familial rhabdoid tumor" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +synonym: "SMARCB1 familial rhabdoid tumour" EXACT OMO:0003005 [] synonym: "teratoid tumor, atypical" RELATED [OMIM:609322] xref: MESH:C563738 {source="MONDO:equivalentTo"} xref: NCIT:C178393 {source="MONDO:equivalentTo"} @@ -239867,6 +243492,7 @@ subset: gard_rare {source="GARD:0005447"} subset: ordo_malformation_syndrome {source="Orphanet:1906"} synonym: "fetal valproate syndrome" EXACT [OMIM:609442] synonym: "fetal valproic acid syndrome" EXACT [DOID:0060471, Orphanet:1906] +synonym: "foetal valproic acid syndrome" EXACT OMO:0003005 [] synonym: "FVS" RELATED ABBREVIATION [GARD:0005447] synonym: "susceptibility to valproate embryopathy" RELATED [GARD:0005447] synonym: "valproate embryopathy, susceptibility to" RELATED [OMIM:609442] @@ -239895,8 +243521,10 @@ name: generalized epilepsy-paroxysmal dyskinesia syndrome def: "Generalized epilepsy-paroxysmal dyskinesia syndrome is characterized by the association of paroxysmal dyskinesia and generalized epilepsy (usually absence or generalized tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Analysis in one of the reported families led to the identification of a causative mutation in the KCNMA1 gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant." [Orphanet:79137] subset: ordo_disease {source="Orphanet:79137"} synonym: "epilepsy, generalized, with paroxysmal dyskinesia" RELATED [OMIM:609446] +synonym: "generalised epilepsy and paroxysmal dyskinesia" RELATED OMO:0003005 [] synonym: "generalized epilepsy and paroxysmal dyskinesia" RELATED [MONDO:Lexical, OMIM:609446] synonym: "GEPD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609446, Orphanet:79137] +synonym: "paroxysmal nonkinesigenic dyskinesia, 3, with or without generalised epilepsy" RELATED OMO:0003005 [] synonym: "paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy" RELATED [OMIM:609446] synonym: "PNKD3" RELATED ABBREVIATION [OMIM:609446] xref: ICD10CM:G40.3 {source="Orphanet:79137/attributed", source="Orphanet:79137/ntbt", source="Orphanet:79137"} @@ -240399,6 +244027,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012304 name: photoparoxysmal response 2 synonym: "photoparoxysmal response 2" EXACT [MONDO:Lexical, OMIM:609572] +synonym: "photoparoxysmal response with or without idiopathic generalised epilepsy" RELATED OMO:0003005 [] synonym: "photoparoxysmal response with or without idiopathic generalized epilepsy" RELATED [OMIM:609572] synonym: "PPR2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609572] xref: OMIM:609572 {source="MONDO:equivalentTo"} @@ -240621,6 +244250,7 @@ synonym: "CDA and CRMO" RELATED [GARD:0010088] synonym: "chronic recurrent multifocal osteomyelitis, congenital" RELATED [GARD:0010088] synonym: "chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic Anemia, and neutrophilic dermatosis" RELATED [OMIM:609628] synonym: "chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome" EXACT [Orphanet:77297] +synonym: "congenital dyserythropoietic anaemia and chronic recurrent multifocal osteomyelitis" RELATED OMO:0003005 [] synonym: "congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis" RELATED [GARD:0010088] synonym: "dyserythropoietic anemia, and neutrophilic dermatosis" RELATED [GARD:0010088] synonym: "MAJEED syndrome" RELATED [OMIM:609628] @@ -241053,9 +244683,13 @@ synonym: "celiac disease caused by mutation in MYO9B" EXACT [MONDO:design_patter synonym: "celiac disease, susceptibility to, 4" EXACT [MONDO:Lexical, OMIM:609753] synonym: "celiac disease, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:609753] synonym: "CELIAC4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609753] +synonym: "coeliac disease caused by mutation in MYO9B" EXACT OMO:0003005 [] +synonym: "coeliac disease, susceptibility to, type 4" EXACT OMO:0003005 [] synonym: "gluten-sensitive enteropathy, susceptibility to, 4" RELATED [OMIM:609753] synonym: "MYO9B celiac disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +synonym: "MYO9B coeliac disease" EXACT OMO:0003005 [] synonym: "susceptibility to celiac disease 4" RELATED [OMIM:609753] +synonym: "susceptibility to coeliac disease 4" RELATED OMO:0003005 [] xref: OMIM:609753 {source="MONDO:equivalentTo"} xref: Orphanet:555 {source="OMIM:609753"} xref: UMLS:C1857847 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:609753"} @@ -241089,9 +244723,13 @@ synonym: "celiac disease caused by mutation in CTLA4" EXACT [MONDO:design_patter synonym: "celiac disease, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:609755] synonym: "celiac disease, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:609755] synonym: "CELIAC3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609755] +synonym: "coeliac disease caused by mutation in CTLA4" EXACT OMO:0003005 [] +synonym: "coeliac disease, susceptibility to, type 3" EXACT OMO:0003005 [] synonym: "CTLA4 celiac disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +synonym: "CTLA4 coeliac disease" EXACT OMO:0003005 [] synonym: "gluten-sensitive enteropathy, susceptibility to, 3" RELATED [OMIM:609755] synonym: "susceptibility to celiac disease 3" RELATED [OMIM:609755] +synonym: "susceptibility to coeliac disease 3" RELATED OMO:0003005 [] xref: OMIM:609755 {source="MONDO:equivalentTo"} xref: Orphanet:555 {source="OMIM:609755"} xref: UMLS:C1857845 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:609755"} @@ -241177,6 +244815,8 @@ subset: ordo_disease {source="Orphanet:263534"} synonym: "acral deciduous skin" EXACT [Orphanet:263534] synonym: "acral peeling skin syndrome" EXACT CLINGEN_PREFERRED [OMIM:609796] synonym: "acral PSS" EXACT [Orphanet:263534] +synonym: "localised deciduous skin" EXACT OMO:0003005 [] +synonym: "localised PSS" EXACT OMO:0003005 [] synonym: "localized deciduous skin" EXACT [Orphanet:263534] synonym: "localized PSS" EXACT [Orphanet:263534] synonym: "peeling skin syndrome 2" RELATED [MONDO:Lexical, OMIM:609796] @@ -243934,12 +247574,17 @@ name: congenital malabsorptive diarrhea 4 def: "Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells is an exceedingly rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea and a lack of intestinal enteroendocrine cells. Within the first weeks of life, patients present with vomiting, dehydration, and severe diarrhea unresponsive to various nutrients and formulas, and require home parenteral nutrition. Diabetes mellitus has also been reported." [Orphanet:83620] subset: ordo_disease {source="Orphanet:83620"} synonym: "congenital diarrhea caused by mutation in NEUROG3" EXACT [MONDO:design_pattern] +synonym: "congenital diarrhoea caused by mutation in NEUROG3" EXACT OMO:0003005 [] synonym: "congenital malabsorptive diarrhea due to paucity of enteroendocrine cells" EXACT [DOID:0060779] synonym: "congenital malabsorptive diarrhea type 4" EXACT [DOID:0060779, MONDORULE:1] +synonym: "congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells" EXACT OMO:0003005 [] +synonym: "congenital malabsorptive diarrhoea type 4" EXACT OMO:0003005 [] synonym: "DIAR4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610370] synonym: "diarrhea 4, malabsorptive, congenital" RELATED [MONDO:Lexical, OMIM:610370] +synonym: "diarrhoea 4, malabsorptive, congenital" RELATED OMO:0003005 [] synonym: "enteric anendocrinosis" EXACT [DOID:0060779, OMIM:610370, Orphanet:83620] synonym: "NEUROG3 congenital diarrhea" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +synonym: "NEUROG3 congenital diarrhoea" EXACT OMO:0003005 [] xref: DOID:0060779 {source="MONDO:equivalentTo"} xref: ICD10CM:P78.3 {source="Orphanet:83620/attributed", source="Orphanet:83620/ntbt", source="Orphanet:83620", source="DOID:0060779"} xref: MESH:C563673 {source="MONDO:equivalentTo"} @@ -244495,10 +248140,13 @@ name: arrhythmogenic right ventricular dysplasia 11 def: "Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the DSC2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "arrhythmogenic right ventricular cardiomyopathy 11" EXACT [DOID:0110082, OMIM:610476] synonym: "arrhythmogenic right ventricular dysplasia 11" EXACT CLINGEN_PREFERRED [] +synonym: "arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair" EXACT OMO:0003005 [] synonym: "arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and wooly hair" EXACT [OMIM:610476, OMIM:genemap2] synonym: "arrhythmogenic right ventricular dysplasia type 11" EXACT [DOID:0110082, MONDORULE:2] synonym: "arrhythmogenic right ventricular dysplasia, familial, 11" RELATED [MONDO:Lexical, OMIM:610476] +synonym: "arrhythmogenic right ventricular dysplasia, familial, 11, and mild palmoplantar keratoderma with or without woolly hair" RELATED OMO:0003005 [] synonym: "arrhythmogenic right ventricular dysplasia, familial, 11, and mild palmoplantar keratoderma with or without wooly hair" RELATED [OMIM:610476] +synonym: "arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair" RELATED OMO:0003005 [] synonym: "arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and wooly hair" RELATED [OMIM:610476] synonym: "arrhythmogenic right ventricular dysplasia, familial, type 11" EXACT [MONDORULE:2, OMIM:610476] synonym: "ARVC11" EXACT ABBREVIATION [DOID:0110082] @@ -245013,10 +248661,13 @@ synonym: "hereditary angioedema caused by mutation in F12" EXACT [MONDO:design_p synonym: "hereditary angioedema type 3" EXACT CLINGEN_PREFERRED [] synonym: "hereditary angioedema with normal C1 inhibitor activity" RELATED [OMIM:610618] synonym: "hereditary angioneurotic edema type 3" EXACT [Orphanet:100054] +synonym: "hereditary angioneurotic oedema type 3" EXACT OMO:0003005 [] synonym: "inherited estrogen-associated angioedema" EXACT [Orphanet:100054] synonym: "inherited estrogen-associated angioneurotic edema" EXACT [Orphanet:100054] +synonym: "inherited estrogen-associated angioneurotic oedema" EXACT OMO:0003005 [] synonym: "inherited estrogen-dependent angioedema" EXACT [Orphanet:100054] synonym: "inherited estrogen-dependent angioneurotic edema" EXACT [Orphanet:100054] +synonym: "inherited estrogen-dependent angioneurotic oedema" EXACT OMO:0003005 [] xref: DOID:0080940 {source="MONDO:equivalentTo"} xref: ICD10CM:D84.1 {source="Orphanet:100054", source="Orphanet:100054/attributed", source="Orphanet:100054/ntbt"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -245097,11 +248748,15 @@ id: MONDO:0012529 name: Diamond-Blackfan anemia 3 def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS24 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0010241"} +synonym: "anaemia Diamond-Blackfan 3" RELATED OMO:0003005 [] synonym: "anemia Diamond-Blackfan 3" RELATED [GARD:0010241] synonym: "DBA3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610629] +synonym: "Diamond-Blackfan anaemia caused by mutation in RPS24" EXACT OMO:0003005 [] +synonym: "Diamond-Blackfan Anaemia type 3" EXACT OMO:0003005 [] synonym: "Diamond-Blackfan anemia 3" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:610629] synonym: "Diamond-Blackfan anemia caused by mutation in RPS24" EXACT [MONDO:design_pattern] synonym: "Diamond-Blackfan Anemia type 3" EXACT [MONDORULE:1, OMIM:610629] +synonym: "RPS24 Diamond-Blackfan anaemia" EXACT OMO:0003005 [] synonym: "RPS24 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111887 {source="MONDO:equivalentTo"} xref: MESH:C536355 {source="MONDO:equivalentTo"} @@ -245848,11 +249503,14 @@ id: MONDO:0012565 name: Fanconi anemia complementation group N def: "Any Fanconi anemia in which the cause of the disease is a mutation in the PALB2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "FANCN" EXACT ABBREVIATION [DOID:0111094, MONDO:Lexical, OMIM:610832] +synonym: "Fanconi anaemia caused by mutation in PALB2" EXACT OMO:0003005 [] +synonym: "Fanconi anaemia complementation group type N" EXACT OMO:0003005 [] synonym: "Fanconi anemia caused by mutation in PALB2" EXACT [MONDO:design_pattern] synonym: "Fanconi anemia complementation group N" EXACT CLINGEN_PREFERRED [] synonym: "Fanconi anemia complementation group type N" EXACT [DOID:0111094, MONDORULE:1] synonym: "Fanconi anemia, complementation group N" RELATED [MONDO:Lexical, OMIM:610832] synonym: "Fanconi Anemia, complementation group type N" EXACT [MONDORULE:1, OMIM:610832] +synonym: "PALB2 Fanconi anaemia" EXACT OMO:0003005 [] synonym: "PALB2 Fanconi anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111094 {source="MONDO:equivalentTo"} xref: MESH:C563657 {source="MONDO:equivalentTo"} @@ -246669,8 +250327,11 @@ synonym: "MFRP isolated microphthalmia" EXACT [MONDO:design_pattern, MONDO:patte synonym: "microphthalmia, isolated 5" RELATED [MONDO:Lexical, OMIM:611040] synonym: "microphthalmia, isolated type 5" EXACT [MONDORULE:1, OMIM:611040] synonym: "microphthalmia, posterior, with retinitis pigmentosa, foveoschisis, and optic Disc drusen" RELATED [OMIM:611040] +synonym: "microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome" EXACT OMO:0003005 [] synonym: "microphthalmia-retinitis pigmentosa-foveoschisis-optic disk drusen syndrome" EXACT [DOID:0060837] +synonym: "Nanophtalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome" EXACT OMO:0003005 [] synonym: "Nanophtalmos-retinitis pigmentosa-foveoschisis-optic disk drusen syndrome" EXACT [Orphanet:251279] +synonym: "posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen" EXACT OMO:0003005 [] synonym: "posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disk drusen" EXACT [DOID:0060837] xref: DOID:0060837 {source="MONDO:equivalentTo"} xref: ICD10CM:Q15.8 {source="Orphanet:251279", source="DOID:0060837", source="Orphanet:251279/attributed", source="Orphanet:251279/ntbt"} @@ -247102,6 +250763,7 @@ synonym: "epilepsy, idiopathic generalized, susceptibility to, type 13" EXACT [M synonym: "epilepsy, juvenile myoclonic, susceptibility to, 5" RELATED [OMIM:611136] synonym: "GABRA1 juvenile myoclonic epilepsy" RELATED [MONDO:patterns/disease_series_by_gene] synonym: "juvenile myoclonic epilepsy caused by mutation in GABRA1" RELATED [MONDO:design_pattern] +synonym: "susceptibility to idiopathic generalised epilepsy 13" EXACT OMO:0003005 [] synonym: "susceptibility to idiopathic generalized epilepsy 13" EXACT [OMIM:611136] xref: DOID:0111314 {source="MONDO:equivalentTo"} xref: MESH:C567002 {source="MONDO:equivalentTo"} @@ -247541,12 +251203,17 @@ subset: ordo_disease {source="Orphanet:169079"} synonym: "Cernunnos deficiency" EXACT [Orphanet:169079] synonym: "Cernunnos XLFD" EXACT [Orphanet:169079] synonym: "Cernunnos-XLF deficiency" EXACT CLINGEN_PREFERRED [] +synonym: "combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionising radiation syndrome" EXACT OMO:0003005 [] synonym: "combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome" EXACT [Orphanet:169079] synonym: "NHEJ1 deficiency" EXACT [Orphanet:169079] synonym: "Nhej1 syndrome" RELATED [OMIM:611291] +synonym: "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, and sensitivity to ionising radiation due to Nhej1 deficiency" RELATED OMO:0003005 [] synonym: "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, and sensitivity to ionizing radiation due to Nhej1 deficiency" RELATED [OMIM:611291] +synonym: "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with microcephaly, Growth retardation, and sensitivity to ionising radiation" RELATED OMO:0003005 [] synonym: "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with microcephaly, Growth retardation, and sensitivity to ionizing radiation" RELATED [OMIM:611291] +synonym: "severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionising radiation" RELATED OMO:0003005 [] synonym: "severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation" RELATED [OMIM:611291] +synonym: "severe combined immunodeficiency with sensitivity to ionising radiation due to Nhej1 deficiency" RELATED OMO:0003005 [] synonym: "severe combined immunodeficiency with sensitivity to ionizing radiation due to Nhej1 deficiency" RELATED [OMIM:611291] xref: ICD10CM:D81.1 {source="Orphanet:169079", source="Orphanet:169079/attributed", source="Orphanet:169079/ntbt"} xref: MESH:C566970 {source="MONDO:equivalentTo"} @@ -247700,8 +251367,11 @@ name: Mungan syndrome synonym: "MGS" EXACT ABBREVIATION [OMIM:611376] synonym: "MUNGAN syndrome" EXACT [MONDO:Lexical, OMIM:611376] synonym: "pseudoobstruction chronic idiopathic intestinal with Barrett esophagus and cardiac abnormalities" RELATED [GARD:0010687] +synonym: "pseudoobstruction chronic idiopathic intestinal with Barrett oesophagus and cardiac abnormalities" RELATED OMO:0003005 [] synonym: "pseudoobstruction, chronic idiopathic intestinal, with Barrett esophagus and Cardiac abnormalities" RELATED [OMIM:611376] +synonym: "pseudoobstruction, chronic idiopathic intestinal, with Barrett oesophagus and Cardiac abnormalities" RELATED OMO:0003005 [] synonym: "visceral neuromyopathy familial with pseudoobstruction megaduodenum Barrett esophagus and cardiac abnormalities" RELATED [GARD:0010687] +synonym: "visceral neuromyopathy familial with pseudoobstruction megaduodenum Barrett oesophagus and cardiac abnormalities" RELATED OMO:0003005 [] synonym: "visceral Neuromyopathy, familial, with pseudoobstruction, Megaduodenum, Barrett esophagus, and Cardiac abnormalities" RELATED [OMIM:611376] xref: MESH:C548078 {source="MONDO:equivalentTo"} xref: OMIM:611376 {source="MONDO:equivalentTo"} @@ -248589,11 +252259,16 @@ id: MONDO:0012700 name: renal tubular acidosis, distal, 4, with hemolytic anemia def: "Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA) characterized by a defect in renal acidification and hereditary hemolytic anemia." [Orphanet:93610] subset: ordo_clinical_subtype {source="Orphanet:93610"} +synonym: "distal renal tubular acidosis 4 with hemolytic anaemia" EXACT OMO:0003005 [] synonym: "distal renal tubular acidosis 4 with hemolytic anemia" EXACT [OMIM:611590, OMIM:genemap2] +synonym: "distal renal tubular acidosis with anaemia" EXACT OMO:0003005 [] synonym: "distal renal tubular acidosis with anemia" EXACT [Orphanet:93610] +synonym: "dRTA with anaemia" EXACT OMO:0003005 [] synonym: "dRTA with anemia" EXACT [Orphanet:93610] +synonym: "renal tubular acidosis, distal, with hemolytic anaemia" RELATED OMO:0003005 [] synonym: "renal tubular acidosis, distal, with hemolytic anemia" RELATED [OMIM:611590] synonym: "renal tubular acidosis, distal, with normal Red cell morphology" RELATED [OMIM:611590] +synonym: "RTA, distal, autosomal recessive, with hemolytic Anaemia" RELATED OMO:0003005 [] synonym: "RTA, distal, autosomal recessive, with hemolytic Anemia" RELATED [OMIM:611590] xref: ICD10CM:N25.8 {source="Orphanet:93610", source="Orphanet:93610/attributed", source="Orphanet:93610/ntbt"} xref: OMIM:611590 {source="MONDO:equivalentTo", source="Orphanet:93610", source="Orphanet:93610/e"} @@ -250767,11 +254442,14 @@ synonym: "GLUT1 deficiency syndrome 2" RELATED [MONDO:Lexical, OMIM:612126] synonym: "GLUT1 deficiency syndrome 2, childhood onset" EXACT [OMIM:612126, OMIM:genemap2] synonym: "GLUT1 deficiency syndrome type 2" EXACT [MONDORULE:1, OMIM:612126] synonym: "GLUT1DS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612126] +synonym: "paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic Anaemia" RELATED OMO:0003005 [] synonym: "paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic Anemia" RELATED [OMIM:612126] synonym: "paroxysmal exercise-induced dystonia" EXACT [PMID:26598494] synonym: "paroxysmal exertion-induced dyskinesia" RELATED [Orphanet:98811] +synonym: "paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic Anaemia" RELATED OMO:0003005 [] synonym: "paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic Anemia" RELATED [OMIM:612126] synonym: "ped" EXACT [Orphanet:98811] +synonym: "ped with or without epilepsy and/or hemolytic Anaemia" RELATED OMO:0003005 [] synonym: "ped with or without epilepsy and/or hemolytic Anemia" RELATED [OMIM:612126] synonym: "PxMD-SLC2A1" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/] xref: DOID:0090045 {source="MONDO:equivalentTo"} @@ -251005,12 +254683,22 @@ subset: ordo_disease {source="Orphanet:319"} synonym: "ES" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C4817, OMIM:612219] synonym: "Ewing sarcoma" EXACT [MONDO:Lexical, NCIT:C4817, OMIM:612219] synonym: "Ewing tumor" RELATED [GARD:0006390] +synonym: "Ewing tumour" RELATED OMO:0003005 [] +synonym: "Ewing's family localised tumour" EXACT OMO:0003005 [] synonym: "Ewing's family localized tumor" EXACT [DOID:3369] synonym: "Ewing's sarcoma" EXACT [NCIT:C4817] synonym: "Ewing's sarcoma/peripheral primitive neuroectodermal tumor" RELATED EXCLUDE [DOID:3369] +synonym: "Ewing's sarcoma/peripheral primitive neuroectodermal tumour" RELATED OMO:0003005 [] synonym: "Ewing's tumor" EXACT [NCIT:C4817] +synonym: "Ewing's tumour" EXACT OMO:0003005 [] synonym: "Ewings sarcoma" EXACT [DOID:3369] synonym: "Ewings sarcoma-primitive neuroectodermal tumor" RELATED [DOID:3369] +synonym: "Ewings sarcoma-primitive neuroectodermal tumour" RELATED OMO:0003005 [] +synonym: "localised Ewing sarcoma" RELATED OMO:0003005 [] +synonym: "localised Ewing's sarcoma" RELATED OMO:0003005 [] +synonym: "localised Ewing's sarcoma/peripheral primitive neuroectodermal tumour" RELATED OMO:0003005 [] +synonym: "localised Ewing's tumour" RELATED OMO:0003005 [] +synonym: "localised peripheral primitive neuroectodermal tumour" RELATED OMO:0003005 [] synonym: "localized Ewing sarcoma" RELATED [DOID:3369] synonym: "localized Ewing's sarcoma" RELATED [DOID:3369] synonym: "localized Ewing's sarcoma/peripheral primitive neuroectodermal tumor" RELATED [DOID:3369] @@ -251019,6 +254707,7 @@ synonym: "localized peripheral primitive neuroectodermal tumor" RELATED [DOID:33 synonym: "neuroepithelioma" RELATED [OMIM:612219, OMIM:genemap2] synonym: "neuroepithelioma, peripheral" RELATED [OMIM:612219] synonym: "peripheral primitive neuroectodermal tumor" RELATED EXCLUDE [DOID:3369] +synonym: "peripheral primitive neuroectodermal tumour" RELATED OMO:0003005 [] synonym: "PNET of Thoracopulmonary region" EXACT [DOID:3369] synonym: "sarcoma, Ewing's" RELATED [GARD:0006390] xref: DOID:0050608 {source="EFO:0000174", source="MONDO:relatedTo"} @@ -252442,10 +256131,17 @@ id: MONDO:0012883 name: acute promyelocytic leukemia def: "An aggressive form of acute myeloid leukemia (AML), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to a specific chromosomal translocation t(15;17) in myeloid cells. APL manifests with easy bruising, hemorrhagic diathesis and fatigue." [Orphanet:520] subset: ordo_disease {source="Orphanet:520"} +synonym: "acute myeloblastic leukaemia 3" EXACT OMO:0003005 [] +synonym: "acute myeloblastic leukaemia type 3" EXACT OMO:0003005 [] synonym: "acute myeloblastic leukemia 3" EXACT [Orphanet:520] synonym: "acute myeloblastic leukemia type 3" EXACT [DOID:0060318] +synonym: "acute myeloid leukaemia M3" EXACT OMO:0003005 [] +synonym: "acute myeloid leukaemia with t(15;17)(q22;q12);(PML/RARalpha) and variants" EXACT OMO:0003005 [] synonym: "acute myeloid leukemia M3" EXACT [DOID:0060318] synonym: "acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants" EXACT [Orphanet:520] +synonym: "acute promyelocytic leukaemia with PML-rara" EXACT OMO:0003005 [] +synonym: "acute promyelocytic leukaemia with t(15;17)(q22;q12); PML-rara" EXACT OMO:0003005 [] +synonym: "acute promyelocytic leukaemia with t(15;17)(q22;q12); PML/rara" EXACT OMO:0003005 [] synonym: "acute promyelocytic leukemia" EXACT [MONDO:Lexical, OMIM:612376] synonym: "acute promyelocytic leukemia with PML-rara" EXACT [NCIT:C3182] synonym: "acute promyelocytic leukemia with t(15;17)(q22;q12); PML-rara" EXACT [NCIT:C3182] @@ -252455,10 +256151,12 @@ synonym: "AML with t(15;17)(q22;q12)" EXACT [NCIT:C3182] synonym: "AML with t(15;17)(q22;q12);(PML/RARalpha) and variants" EXACT [Orphanet:520] synonym: "APL" EXACT ABBREVIATION [DOID:0060318, MONDO:Lexical, OMIM:612376] synonym: "APML" EXACT ABBREVIATION [Orphanet:520] +synonym: "APML - acute promyelocytic leukaemia" EXACT OMO:0003005 [] synonym: "APML - acute promyelocytic leukemia" EXACT [NCIT:C3182] synonym: "FAB M3" EXACT [NCIT:C3182] synonym: "leukemia, acute promyelocytic" RELATED [OMIM:612376] synonym: "leukemia, acute promyelocytic, somatic" EXACT [OMIM:612376, OMIM:genemap2] +synonym: "promyelocytic leukaemia" EXACT OMO:0003005 [] synonym: "promyelocytic leukemia" EXACT [NCIT:C3182] xref: DOID:0060318 {source="EFO:0000224", source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:0081081 {source="MONDO:equivalentTo"} @@ -252741,6 +256439,7 @@ synonym: "factor 11 deficiency" RELATED [OMIM:612416] synonym: "factor XI deficiency" RELATED [OMIM:612416] synonym: "factor XI deficiency, autosomal dominant" EXACT [OMIM:612416, OMIM:genemap2] synonym: "factor XI deficiency, autosomal recessive" EXACT [OMIM:612416, OMIM:genemap2] +synonym: "haemophilia C" EXACT OMO:0003005 [] synonym: "hemophilia C" EXACT [DOID:2229, Orphanet:329] synonym: "hereditary Factor XI deficiency" EXACT [NCIT:C84705] synonym: "hereditary factor XI deficiency" EXACT [MONDO:patterns/hereditary] @@ -253314,8 +257013,10 @@ subset: gard_rare {source="GARD:0013389"} synonym: "Berardinelli-Seip congenital lipodystrophy type 3" EXACT [DOID:0111137] synonym: "Berardinelli-Seip congenital lipodystrophy, type 3" RELATED [OMIM:612526] synonym: "BSCL3" EXACT ABBREVIATION [DOID:0111137] +synonym: "CAV1 congenital generalised lipodystrophy (disease)" EXACT OMO:0003005 [] synonym: "CAV1 congenital generalized lipodystrophy (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "CGL3" EXACT ABBREVIATION [DOID:0111137, MONDO:Lexical, OMIM:612526] +synonym: "congenital generalised lipodystrophy (disease) caused by mutation in CAV1" EXACT OMO:0003005 [] synonym: "congenital generalized lipodystrophy (disease) caused by mutation in CAV1" EXACT [] synonym: "lipodystrophy, Berardinelli-Seip congenital, type 3" RELATED [OMIM:612526] synonym: "lipodystrophy, congenital generalized, type 3" RELATED [MONDO:Lexical, OMIM:612526] @@ -253341,9 +257042,12 @@ id: MONDO:0012924 name: Diamond-Blackfan anemia 4 def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS17 gene." [MONDO:patterns/disease_series_by_gene] synonym: "DBA4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612527] +synonym: "Diamond-Blackfan anaemia caused by mutation in RPS17" EXACT OMO:0003005 [] +synonym: "Diamond-Blackfan Anaemia type 4" EXACT OMO:0003005 [] synonym: "Diamond-Blackfan anemia 4" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:612527] synonym: "Diamond-Blackfan anemia caused by mutation in RPS17" EXACT [MONDO:design_pattern] synonym: "Diamond-Blackfan Anemia type 4" EXACT [MONDORULE:1, OMIM:612527] +synonym: "RPS17 Diamond-Blackfan anaemia" EXACT OMO:0003005 [] synonym: "RPS17 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111890 {source="MONDO:equivalentTo"} xref: MESH:C567281 {source="MONDO:equivalentTo"} @@ -253360,9 +257064,12 @@ id: MONDO:0012925 name: Diamond-Blackfan anemia 5 def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL35A gene." [MONDO:patterns/disease_series_by_gene] synonym: "DBA5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612528] +synonym: "Diamond-Blackfan anaemia caused by mutation in RPL35A" EXACT OMO:0003005 [] +synonym: "Diamond-Blackfan Anaemia type 5" EXACT OMO:0003005 [] synonym: "Diamond-Blackfan anemia 5" EXACT [MONDO:Lexical, OMIM:612528] synonym: "Diamond-Blackfan anemia caused by mutation in RPL35A" EXACT [MONDO:design_pattern] synonym: "Diamond-Blackfan Anemia type 5" EXACT [MONDORULE:1, OMIM:612528] +synonym: "RPL35A Diamond-Blackfan anaemia" EXACT OMO:0003005 [] synonym: "RPL35A Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111883 {source="MONDO:equivalentTo"} xref: MESH:C567280 {source="MONDO:equivalentTo"} @@ -253629,9 +257336,12 @@ name: Diamond-Blackfan anemia 6 def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL5 gene." [MONDO:patterns/disease_series_by_gene] synonym: "Aase-Smith syndrome 2" RELATED [OMIM:612561] synonym: "DBA6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612561] +synonym: "Diamond-Blackfan anaemia caused by mutation in RPL5" EXACT OMO:0003005 [] +synonym: "Diamond-Blackfan Anaemia type 6" EXACT OMO:0003005 [] synonym: "Diamond-Blackfan anemia 6" EXACT [MONDO:Lexical, OMIM:612561] synonym: "Diamond-Blackfan anemia caused by mutation in RPL5" EXACT [MONDO:design_pattern] synonym: "Diamond-Blackfan Anemia type 6" EXACT [MONDORULE:1, OMIM:612561] +synonym: "RPL5 Diamond-Blackfan anaemia" EXACT OMO:0003005 [] synonym: "RPL5 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111879 {source="MONDO:equivalentTo"} xref: NCIT:C176915 {source="MONDO:equivalentTo"} @@ -253649,9 +257359,12 @@ id: MONDO:0012938 name: Diamond-Blackfan anemia 7 def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL11 gene." [MONDO:patterns/disease_series_by_gene] synonym: "DBA7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612562] +synonym: "Diamond-Blackfan anaemia caused by mutation in RPL11" EXACT OMO:0003005 [] +synonym: "Diamond-Blackfan Anaemia type 7" EXACT OMO:0003005 [] synonym: "Diamond-Blackfan anemia 7" EXACT [MONDO:Lexical, OMIM:612562] synonym: "Diamond-Blackfan anemia caused by mutation in RPL11" EXACT [MONDO:design_pattern] synonym: "Diamond-Blackfan Anemia type 7" EXACT [MONDORULE:1, OMIM:612562] +synonym: "RPL11 Diamond-Blackfan anaemia" EXACT OMO:0003005 [] synonym: "RPL11 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111878 {source="MONDO:equivalentTo"} xref: MESH:C567254 {source="MONDO:equivalentTo"} @@ -253668,9 +257381,12 @@ id: MONDO:0012939 name: Diamond-Blackfan anemia 8 def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS7 gene." [MONDO:patterns/disease_series_by_gene] synonym: "DBA8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612563] +synonym: "Diamond-Blackfan anaemia caused by mutation in RPS7" EXACT OMO:0003005 [] +synonym: "Diamond-Blackfan Anaemia type 8" EXACT OMO:0003005 [] synonym: "Diamond-Blackfan anemia 8" EXACT [MONDO:Lexical, OMIM:612563] synonym: "Diamond-Blackfan anemia caused by mutation in RPS7" EXACT [MONDO:design_pattern] synonym: "Diamond-Blackfan Anemia type 8" EXACT [MONDORULE:1, OMIM:612563] +synonym: "RPS7 Diamond-Blackfan anaemia" EXACT OMO:0003005 [] synonym: "RPS7 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111881 {source="MONDO:equivalentTo"} xref: MESH:C567253 {source="MONDO:equivalentTo"} @@ -254200,6 +257916,7 @@ id: MONDO:0012967 name: hemolytic anemia due to adenylate kinase deficiency def: "Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment." [Orphanet:86817] subset: ordo_disease {source="Orphanet:86817"} +synonym: "ADENYLATE KINASE deficiency, hemolytic anaemia due to" RELATED OMO:0003005 [] synonym: "ADENYLATE KINASE deficiency, hemolytic anemia due to" RELATED [OMIM:612631] xref: ICD10CM:D55.3 {source="Orphanet:86817/attributed", source="Orphanet:86817/ntbt", source="Orphanet:86817"} xref: MESH:C567228 {source="MONDO:equivalentTo"} @@ -255526,12 +259243,15 @@ id: MONDO:0013032 name: epilepsy, idiopathic generalized, susceptibility to, 8 def: "Any generalized epilepsy in which the cause of the disease is a mutation in the CASR gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition +synonym: "CASR generalised epilepsy" EXACT OMO:0003005 [] synonym: "CASR generalized epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "EIG8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612899] synonym: "epilepsy idiopathic generalized, susceptibility to, 8" EXACT [OMIM:612899, OMIM:genemap2] synonym: "epilepsy, idiopathic generalized, susceptibility to, 8" EXACT [MONDO:Lexical, OMIM:612899] synonym: "epilepsy, idiopathic generalized, susceptibility to, type 8" EXACT [MONDORULE:1, OMIM:612899] +synonym: "generalised epilepsy caused by mutation in CASR" EXACT OMO:0003005 [] synonym: "generalized epilepsy caused by mutation in CASR" EXACT [MONDO:design_pattern] +synonym: "susceptibility to idiopathic generalised epilepsy 8" RELATED OMO:0003005 [] synonym: "susceptibility to idiopathic generalized epilepsy 8" RELATED [OMIM:612899] xref: DOID:0111322 {source="MONDO:equivalentTo"} xref: OMIM:612899 {source="MONDO:equivalentTo"} @@ -255727,6 +259447,7 @@ synonym: "D-HUS with MCP/CD46 anomaly" EXACT [Orphanet:93576] synonym: "hemolytic uremic syndrome, atypical, susceptibility to, 2" RELATED [MONDO:Lexical, OMIM:612922] synonym: "hemolytic uremic syndrome, atypical, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:612922] synonym: "hemolytic-uremic syndrome without diarrhea with MCP/CD46 anomaly" EXACT [Orphanet:93576] +synonym: "hemolytic-uremic syndrome without diarrhoea with MCP/CD46 anomaly" EXACT OMO:0003005 [] synonym: "susceptibility to atypical hemolytic uremic syndrome 2" RELATED [OMIM:612922] xref: ICD10CM:D58.8 {source="Orphanet:93576", source="Orphanet:93576/attributed", source="Orphanet:93576/ntbt"} xref: OMIM:612922 {source="MONDO:equivalentTo", source="Orphanet:93576", source="Orphanet:93576/e"} @@ -255753,6 +259474,7 @@ synonym: "D-HUS with I factor anomaly" EXACT [Orphanet:93580] synonym: "hemolytic uremic syndrome, atypical, susceptibility to, 3" RELATED [MONDO:Lexical, OMIM:612923] synonym: "hemolytic uremic syndrome, atypical, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:612923] synonym: "hemolytic-uremic syndrome without diarrhea with I factor anomaly" EXACT [Orphanet:93580] +synonym: "hemolytic-uremic syndrome without diarrhoea with I factor anomaly" EXACT OMO:0003005 [] synonym: "susceptibility to atypical hemolytic uremic syndrome 3" RELATED [OMIM:612923] xref: ICD10CM:D58.8 {source="Orphanet:93580/attributed", source="Orphanet:93580/ntbt", source="Orphanet:93580"} xref: OMIM:612923 {source="Orphanet:93580/e", source="MONDO:equivalentTo", source="Orphanet:93580"} @@ -255779,6 +259501,7 @@ synonym: "D-HUS with B factor anomaly" EXACT [Orphanet:93578] synonym: "hemolytic uremic syndrome, atypical, susceptibility to, 4" RELATED [MONDO:Lexical, OMIM:612924] synonym: "hemolytic uremic syndrome, atypical, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:612924] synonym: "hemolytic-uremic syndrome without diarrhea with B factor anomaly" EXACT [Orphanet:93578] +synonym: "hemolytic-uremic syndrome without diarrhoea with B factor anomaly" EXACT OMO:0003005 [] synonym: "susceptibility to atypical hemolytic uremic syndrome 4" RELATED [OMIM:612924] xref: ICD10CM:D58.8 {source="Orphanet:93578", source="Orphanet:93578/attributed", source="Orphanet:93578/ntbt"} xref: OMIM:612924 {source="MONDO:equivalentTo", source="Orphanet:93578", source="Orphanet:93578/e"} @@ -255803,6 +259526,7 @@ synonym: "D-HUS with C3 anomaly" EXACT [Orphanet:93575] synonym: "hemolytic uremic syndrome, atypical, susceptibility to, 5" RELATED [MONDO:Lexical, OMIM:612925] synonym: "hemolytic uremic syndrome, atypical, susceptibility to, type 5" EXACT [MONDORULE:1, OMIM:612925] synonym: "hemolytic-uremic syndrome without diarrhea with C3 anomaly" EXACT [Orphanet:93575] +synonym: "hemolytic-uremic syndrome without diarrhoea with C3 anomaly" EXACT OMO:0003005 [] synonym: "susceptibility to atypical hemolytic uremic syndrome 5" RELATED [OMIM:612925] xref: ICD10CM:D58.8 {source="Orphanet:93575/attributed", source="Orphanet:93575/ntbt", source="Orphanet:93575"} xref: OMIM:612925 {source="Orphanet:93575", source="MONDO:equivalentTo", source="Orphanet:93575/e"} @@ -255828,6 +259552,7 @@ synonym: "D-HUS with thrombomodulin anomaly" EXACT [Orphanet:217023] synonym: "hemolytic uremic syndrome, atypical, susceptibility to, 6" RELATED [MONDO:Lexical, OMIM:612926] synonym: "hemolytic uremic syndrome, atypical, susceptibility to, type 6" EXACT [MONDORULE:1, OMIM:612926] synonym: "hemolytic-uremic syndrome without diarrhea with thrombomodulin anomaly" EXACT [Orphanet:217023] +synonym: "hemolytic-uremic syndrome without diarrhoea with thrombomodulin anomaly" EXACT OMO:0003005 [] synonym: "susceptibility to atypical hemolytic uremic syndrome 6" RELATED [OMIM:612926] xref: ICD10CM:D58.8 {source="Orphanet:217023", source="Orphanet:217023/attributed", source="Orphanet:217023/ntbt"} xref: OMIM:612926 {source="Orphanet:217023/e", source="MONDO:equivalentTo", source="Orphanet:217023"} @@ -257026,7 +260751,9 @@ synonym: "epilepsy, juvenile myoclonic, susceptibility to, 7" RELATED [OMIM:6130 synonym: "GEFS+, type 5, susceptibility to" RELATED [OMIM:613060] synonym: "GEFS+5, susceptibility to" RELATED [OMIM:613060] synonym: "GEFSP5, susceptibility to" RELATED [OMIM:613060] +synonym: "generalised epilepsy with febrile seizures plus, type 5, susceptibility to" RELATED OMO:0003005 [] synonym: "generalized epilepsy with febrile seizures plus, type 5, susceptibility to" RELATED [OMIM:613060] +synonym: "susceptibility to idiopathic generalised epilepsy 10" EXACT OMO:0003005 [] synonym: "susceptibility to idiopathic generalized epilepsy 10" EXACT [OMIM:613060] xref: DOID:0111292 {source="MONDO:equivalentTo"} xref: OMIM:613060 {source="MONDO:equivalentTo"} @@ -258833,15 +262560,20 @@ synonym: "congenital diarrhea 5 with tufting enteropathy" EXACT CLINGEN_PREFERRE synonym: "congenital enteropathy" RELATED [GARD:0010630] synonym: "congenital familial intractable diarrhea with enterocytes assembly abnormalities" RELATED [GARD:0010630] synonym: "congenital familial intractable diarrhea with epithelial or epithelium abnormalities" EXACT [DOID:0060776] +synonym: "congenital familial intractable diarrhoea with enterocytes assembly abnormalities" RELATED OMO:0003005 [] +synonym: "congenital familial intractable diarrhoea with epithelial or epithelium abnormalities" EXACT OMO:0003005 [] synonym: "congenital tufting enteropathy" EXACT [DOID:0060776] synonym: "DIAR5" EXACT ABBREVIATION [DOID:0060776, MONDO:Lexical, OMIM:613217] synonym: "diarrhea 5, with tufting enteropathy, congenital" RELATED [MONDO:Lexical, OMIM:613217] +synonym: "diarrhoea 5, with tufting enteropathy, congenital" RELATED OMO:0003005 [] synonym: "enteropathy, congenital tufting" RELATED [OMIM:613217] synonym: "EPCAM secretory diarrhea" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +synonym: "EPCAM secretory diarrhoea" EXACT OMO:0003005 [] synonym: "IED" EXACT ABBREVIATION [Orphanet:92050] synonym: "intestinal epithelial cell dysplasia" RELATED [OMIM:613217] synonym: "intestinal epithelial dysplasia" EXACT [Orphanet:92050] synonym: "secretory diarrhea caused by mutation in EPCAM" EXACT [MONDO:design_pattern] +synonym: "secretory diarrhoea caused by mutation in EPCAM" EXACT OMO:0003005 [] synonym: "tufting enteropathy" EXACT [DOID:0060776] xref: DOID:0060776 {source="MONDO:equivalentTo"} xref: ICD10CM:P78.3 {source="DOID:0060776", source="Orphanet:92050/attributed", source="Orphanet:92050/ntbt", source="Orphanet:92050"} @@ -259509,9 +263241,12 @@ id: MONDO:0013216 name: Diamond-Blackfan anemia 9 def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS10 gene." [MONDO:patterns/disease_series_by_gene] synonym: "DBA9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613308] +synonym: "Diamond-Blackfan anaemia caused by mutation in RPS10" EXACT OMO:0003005 [] +synonym: "Diamond-Blackfan Anaemia type 9" EXACT OMO:0003005 [] synonym: "Diamond-Blackfan anemia 9" EXACT [MONDO:Lexical, OMIM:613308] synonym: "Diamond-Blackfan anemia caused by mutation in RPS10" EXACT [MONDO:design_pattern] synonym: "Diamond-Blackfan Anemia type 9" EXACT [MONDORULE:1, OMIM:613308] +synonym: "RPS10 Diamond-Blackfan anaemia" EXACT OMO:0003005 [] synonym: "RPS10 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111884 {source="MONDO:equivalentTo"} xref: MESH:C567650 {source="MONDO:equivalentTo"} @@ -259529,9 +263264,12 @@ id: MONDO:0013217 name: Diamond-Blackfan anemia 10 def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS26 gene." [MONDO:patterns/disease_series_by_gene] synonym: "DBA10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613309] +synonym: "Diamond-Blackfan anaemia caused by mutation in RPS26" EXACT OMO:0003005 [] +synonym: "Diamond-Blackfan Anaemia type 10" EXACT OMO:0003005 [] synonym: "Diamond-Blackfan anemia 10" EXACT [MONDO:Lexical, OMIM:613309] synonym: "Diamond-Blackfan anemia caused by mutation in RPS26" EXACT [MONDO:design_pattern] synonym: "Diamond-Blackfan Anemia type 10" EXACT [MONDORULE:2, OMIM:613309] +synonym: "RPS26 Diamond-Blackfan anaemia" EXACT OMO:0003005 [] synonym: "RPS26 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111888 {source="MONDO:equivalentTo"} xref: MESH:C567649 {source="MONDO:equivalentTo"} @@ -259678,10 +263416,13 @@ id: MONDO:0013224 name: rhabdoid tumor predisposition syndrome 2 def: "Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCA4 gene." [MONDO:patterns/disease_series_by_gene] synonym: "familial rhabdoid tumor caused by mutation in SMARCA4" EXACT [MONDO:design_pattern] +synonym: "familial rhabdoid tumour caused by mutation in SMARCA4" EXACT OMO:0003005 [] synonym: "rhabdoid tumor predisposition syndrome 2" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:613325] synonym: "rhabdoid tumor predisposition syndrome type 2" EXACT [MONDORULE:1, OMIM:613325] +synonym: "rhabdoid tumour predisposition syndrome type 2" EXACT OMO:0003005 [] synonym: "RTPS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613325] synonym: "SMARCA4 familial rhabdoid tumor" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +synonym: "SMARCA4 familial rhabdoid tumour" EXACT OMO:0003005 [] xref: MESH:C567643 {source="MONDO:equivalentTo"} xref: NCIT:C178394 {source="MONDO:equivalentTo"} xref: OMIM:613325 {source="MONDO:equivalentTo"} @@ -259704,10 +263445,14 @@ synonym: "Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystro synonym: "Berardinelli-Seip congenital lipodystrophy, type 4, with muscular dystrophy" RELATED [OMIM:613327] synonym: "Brunzell syndrome AGPAT2-related" RELATED EXCLUDE [DOID:0111138] synonym: "BSCL4" EXACT ABBREVIATION [DOID:0111138] +synonym: "CAVIN1 congenital generalised lipodystrophy (disease)" EXACT OMO:0003005 [] synonym: "CAVIN1 congenital generalized lipodystrophy (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "CGL4" EXACT ABBREVIATION [DOID:0111138, MONDO:Lexical, OMIM:613327] +synonym: "congenital generalised lipodystrophy (disease) caused by mutation in CAVIN1" EXACT OMO:0003005 [] synonym: "congenital generalized lipodystrophy (disease) caused by mutation in CAVIN1" EXACT [] synonym: "GCL4" EXACT ABBREVIATION [DOID:0111138, Orphanet:228429] +synonym: "generalised congenital lipodystrophy type 4" EXACT OMO:0003005 [] +synonym: "generalised congenital lipodystrophy with myopathy" EXACT OMO:0003005 [] synonym: "generalized congenital lipodystrophy type 4" EXACT [DOID:0111138, Orphanet:228429] synonym: "generalized congenital lipodystrophy with myopathy" EXACT [DOID:0111138] synonym: "lipodystrophy, Berardinelli-Seip congenital, type 4, with muscular dystrophy" RELATED [OMIM:613327] @@ -260174,11 +263919,16 @@ id: MONDO:0013248 name: Fanconi anemia complementation group O def: "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene." [MONDO:patterns/disease_series_by_gene] synonym: "FANCO" EXACT ABBREVIATION [DOID:0111096, MONDO:Lexical, OMIM:613390] +synonym: "Fanconi anaemia caused by mutation in RAD51C" EXACT OMO:0003005 [] +synonym: "Fanconi anaemia caused by mutation in Rad51C" EXACT OMO:0003005 [] +synonym: "Fanconi anaemia complementation group type O" EXACT OMO:0003005 [] synonym: "Fanconi anemia caused by mutation in RAD51C" EXACT [] synonym: "Fanconi anemia caused by mutation in Rad51C" EXACT [MONDO:design_pattern] synonym: "Fanconi anemia complementation group type O" EXACT [DOID:0111096, MONDORULE:1] synonym: "Fanconi anemia, complementation group O" RELATED [MONDO:Lexical, OMIM:613390] synonym: "Fanconi Anemia, complementation group type O" EXACT [MONDORULE:1, OMIM:613390] +synonym: "RAD51C Fanconi anaemia" EXACT OMO:0003005 [] +synonym: "Rad51C Fanconi anaemia" EXACT OMO:0003005 [] synonym: "RAD51C Fanconi anemia" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "Rad51C Fanconi anemia" EXACT [MONDO:design_pattern] xref: DOID:0111096 {source="MONDO:equivalentTo"} @@ -261379,6 +265129,7 @@ subset: gard_rare {source="GARD:0000365"} subset: ordo_disease {source="Orphanet:91"} synonym: "aromatase deficiency" EXACT [OMIM:613546] synonym: "congenital estrogen deficiency" EXACT [Orphanet:91] +synonym: "congenital oestrogen deficiency" EXACT OMO:0003005 [] synonym: "pseudohermaphroditism, female, due to placental aromatase deficiency" RELATED [OMIM:613546] xref: ICD10CM:E25.8 {source="Orphanet:91/attributed", source="Orphanet:91/ntbt", source="Orphanet:91"} xref: MESH:C537436 {source="Orphanet:91/e", source="MONDO:equivalentTo", source="Orphanet:91"} @@ -261527,10 +265278,13 @@ property_value: confidence "2.846153846153847" xsd:double id: MONDO:0013307 name: myopathy, lactic acidosis, and sideroblastic anemia 2 def: "Any mitochondrial myopathy and sideroblastic anemia in which the cause of the disease is a mutation in the YARS2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "mitochondrial myopathy and sideroblastic anaemia caused by mutation in YARS2" EXACT OMO:0003005 [] synonym: "mitochondrial myopathy and sideroblastic anemia caused by mutation in YARS2" EXACT [MONDO:design_pattern] synonym: "MLASA2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613561] +synonym: "myopathy, lactic acidosis, and sideroblastic Anaemia type 2" EXACT OMO:0003005 [] synonym: "myopathy, lactic acidosis, and sideroblastic anemia 2" EXACT [MONDO:Lexical, OMIM:613561] synonym: "myopathy, lactic acidosis, and sideroblastic Anemia type 2" EXACT [MONDORULE:1, OMIM:613561] +synonym: "YARS2 mitochondrial myopathy and sideroblastic anaemia" EXACT OMO:0003005 [] synonym: "YARS2 mitochondrial myopathy and sideroblastic anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111186 {source="MONDO:equivalentTo"} xref: OMIM:613561 {source="MONDO:equivalentTo"} @@ -261551,7 +265305,9 @@ synonym: "Cbl mutation-associated syndrome" RELATED [OMIM:613563] synonym: "Cbl syndrome" EXACT [OMIM:613563, Orphanet:363972] synonym: "CBL-related disorder" EXACT CLINGEN_PREFERRED [] synonym: "Noonan syndrome-like disorder with JMML" EXACT [Orphanet:363972] +synonym: "Noonan syndrome-like disorder with juvenile myelomonocytic leukaemia" EXACT OMO:0003005 [] synonym: "Noonan syndrome-like disorder with juvenile myelomonocytic leukemia" EXACT [] +synonym: "Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia" RELATED OMO:0003005 [] synonym: "Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia" RELATED [MONDO:Lexical, OMIM:613563] synonym: "Noonan-like syndrome" EXACT [] synonym: "NSLL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613563] @@ -262023,6 +265779,7 @@ def: "Fetal encasement syndrome is a rare, lethal developmental defect during em subset: ordo_malformation_syndrome {source="Orphanet:465824"} synonym: "cocoon syndrome" EXACT [OMIM:613630] synonym: "fetal encasement syndrome" EXACT [DOID:0060647, OMIM:613630] +synonym: "foetal encasement syndrome" EXACT OMO:0003005 [] xref: DOID:0060647 {source="MONDO:equivalentTo"} xref: OMIM:613630 {source="MONDO:equivalentTo", source="Orphanet:465824", source="DOID:0060647", source="Orphanet:465824/e"} xref: Orphanet:465824 {source="MONDO:equivalentTo"} @@ -262443,6 +266200,7 @@ synonym: "CDA type 4" EXACT [Orphanet:293825] synonym: "CDA type IV" EXACT [Orphanet:293825] synonym: "CDA, type 4" RELATED [OMIM:613673] synonym: "CDAN4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613673, Orphanet:293825] +synonym: "congenital dyserythropoietic anaemia due to KLF1 mutation" EXACT OMO:0003005 [] synonym: "congenital dyserythropoietic anemia due to KLF1 mutation" EXACT [Orphanet:293825] synonym: "congenital dyserythropoietic anemia type 4" EXACT [Orphanet:293825] synonym: "dyserythropoietic anemia, congenital, type IV" EXACT [OMIM:613673, OMIM:genemap2] @@ -264703,6 +268461,7 @@ name: constitutional megaloblastic anemia with severe neurologic disease subset: ordo_disease {source="Orphanet:319651"} synonym: "DHFR deficiency" EXACT [OMIM:613839, Orphanet:319651] synonym: "dihydrofolate reductase deficiency" EXACT [Orphanet:319651] +synonym: "megaloblastic anaemia due to dihydrofolate reductase deficiency" RELATED OMO:0003005 [] synonym: "megaloblastic anemia due to dihydrofolate reductase deficiency" RELATED [OMIM:613839] xref: ICD10CM:D52.8 {source="Orphanet:319651", source="Orphanet:319651/attributed", source="Orphanet:319651/ntbt"} xref: MESH:C565095 {source="MONDO:equivalentTo"} @@ -264988,8 +268747,10 @@ def: "Any generalized epilepsy with febrile seizures plus in which the cause of synonym: "febrile seizures, familial, 3B" RELATED [OMIM:613863] synonym: "Gefs+, type 7" RELATED [OMIM:613863] synonym: "GEFSP7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613863] +synonym: "generalised epilepsy with febrile seizures plus caused by mutation in SCN9A" EXACT OMO:0003005 [] synonym: "generalized epilepsy with febrile seizures plus caused by mutation in SCN9A" EXACT [MONDO:design_pattern] synonym: "generalized epilepsy with febrile seizures plus, type 7" EXACT [MONDO:Lexical, OMIM:613863] +synonym: "SCN9A generalised epilepsy with febrile seizures plus" EXACT OMO:0003005 [] synonym: "SCN9A generalized epilepsy with febrile seizures plus" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111295 {source="MONDO:equivalentTo"} xref: MESH:C567827 {source="MONDO:equivalentTo"} @@ -265529,12 +269290,17 @@ property_value: confidence "4.999999999999998" xsd:double id: MONDO:0013499 name: Fanconi anemia complementation group P def: "Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "Fanconi anaemia caused by mutation in SLX4" EXACT OMO:0003005 [] +synonym: "Fanconi anaemia caused by mutation in Slx4" EXACT OMO:0003005 [] +synonym: "Fanconi anaemia complementation group type P" EXACT OMO:0003005 [] synonym: "Fanconi anemia caused by mutation in SLX4" EXACT [] synonym: "Fanconi anemia caused by mutation in Slx4" EXACT [MONDO:design_pattern] synonym: "Fanconi anemia complementation group type P" EXACT [DOID:0111092, MONDORULE:1] synonym: "Fanconi anemia, complementation group P" RELATED [MONDO:Lexical, OMIM:613951] synonym: "Fanconi Anemia, complementation group type P" EXACT [MONDORULE:1, OMIM:613951] synonym: "FANCP" EXACT ABBREVIATION [DOID:0111092, MONDO:Lexical, OMIM:613951] +synonym: "SLX4 Fanconi anaemia" EXACT OMO:0003005 [] +synonym: "Slx4 Fanconi anaemia" EXACT OMO:0003005 [] synonym: "SLX4 Fanconi anemia" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "Slx4 Fanconi anemia" EXACT [MONDO:design_pattern] xref: DOID:0111092 {source="MONDO:equivalentTo"} @@ -265593,6 +269359,7 @@ property_value: confidence "0.028571428571429136" xsd:double [Term] id: MONDO:0013502 name: amyloidosis, primary localized cutaneous, 2 +synonym: "amyloidosis, primary localised cutaneous, type 2" EXACT OMO:0003005 [] synonym: "amyloidosis, primary localized cutaneous, 2" EXACT [MONDO:Lexical, OMIM:613955] synonym: "amyloidosis, primary localized cutaneous, type 2" EXACT [MONDORULE:1, OMIM:613955] synonym: "PLCA2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613955] @@ -265784,10 +269551,16 @@ id: MONDO:0013512 name: hemoglobin H disease def: "Hemoglobin H (HbH) disease is a moderate to severe form of alpha-thalassemia characterized by pronounced microcytic hypochromic hemolytic anemia." [Orphanet:93616] subset: ordo_clinical_subtype {source="Orphanet:93616"} +synonym: "alpha thalassemia, haemoglobin H type" EXACT OMO:0003005 [] synonym: "alpha thalassemia, hemoglobin H type" EXACT [DOID:0110031] synonym: "Alpha-thalassemia intermedia" EXACT [Orphanet:93616] synonym: "alpha-thalassemia intermedia" EXACT [DOID:0110031] +synonym: "Alpha-thalassemia, Haemoglobin H type" RELATED OMO:0003005 [] synonym: "Alpha-thalassemia, Hemoglobin H type" RELATED [OMIM:613978] +synonym: "Haemoglobin H disease, Deletional" RELATED OMO:0003005 [] +synonym: "haemoglobin H disease, deletional" EXACT OMO:0003005 [] +synonym: "haemoglobin H disease, deletional and nondeletional" EXACT OMO:0003005 [] +synonym: "Haemoglobin H disease, Nondeletional" RELATED OMO:0003005 [] synonym: "HbH" EXACT [DOID:0110031, MONDO:Lexical, OMIM:613978] synonym: "HbH disease" EXACT [Orphanet:93616] synonym: "HEMOGLOBIN H disease" RELATED [OMIM:613978] @@ -266881,6 +270654,7 @@ id: MONDO:0013565 name: Fanconi anemia complementation group G def: "Fanconi anemia caused by mutations of the FANCG gene." [NCIT:C125708] synonym: "FANCG" EXACT ABBREVIATION [DOID:0111086, MONDO:Lexical, OMIM:614082] +synonym: "Fanconi anaemia complementation group type G" EXACT OMO:0003005 [] synonym: "Fanconi anemia complementation group G" EXACT CLINGEN_PREFERRED [] synonym: "Fanconi anemia complementation group type G" EXACT [DOID:0111086, MONDORULE:1] synonym: "Fanconi anemia, complementation group G" RELATED [MONDO:Lexical, OMIM:614082] @@ -266900,7 +270674,10 @@ id: MONDO:0013566 name: Fanconi anemia complementation group L def: "Any Fanconi anemia in which the cause of the disease is a mutation in the FANCL gene." [MONDO:patterns/disease_series_by_gene] synonym: "FANCL" EXACT ABBREVIATION [DOID:0111082, MONDO:Lexical, OMIM:614083] +synonym: "FANCL Fanconi anaemia" EXACT OMO:0003005 [] synonym: "FANCL Fanconi anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +synonym: "Fanconi anaemia caused by mutation in FANCL" EXACT OMO:0003005 [] +synonym: "Fanconi anaemia complementation group type L" EXACT OMO:0003005 [] synonym: "Fanconi anemia caused by mutation in FANCL" EXACT [MONDO:design_pattern] synonym: "Fanconi anemia complementation group L" EXACT CLINGEN_PREFERRED [] synonym: "Fanconi anemia complementation group type L" EXACT [DOID:0111082, MONDORULE:1] @@ -267043,6 +270820,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013572 name: Keppen-Lubinsky syndrome subset: ordo_malformation_syndrome {source="Orphanet:435628"} +synonym: "generalised lipodystrophy-progeroid features-severe intellectual disability syndrome" EXACT OMO:0003005 [] synonym: "generalized lipodystrophy-progeroid features-severe intellectual disability syndrome" EXACT [Orphanet:435628] synonym: "KEPPEN-Lubinsky syndrome" RELATED [OMIM:614098] synonym: "Keppen-Lubinsky syndrome" EXACT [MONDO:Lexical, OMIM:614098] @@ -267667,6 +271445,7 @@ name: gluthathione peroxidase deficiency synonym: "glutathione peroxidase deficiency" RELATED [MONDO:Lexical, OMIM:614164] synonym: "gluthathione peroxidase deficiency" EXACT [] synonym: "GPXD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614164] +synonym: "hemolytic anaemia due to glutathione peroxidase deficiency" EXACT OMO:0003005 [] synonym: "hemolytic anemia due to glutathione peroxidase deficiency" EXACT [OMIM:614164, OMIM:genemap2] xref: OMIM:614164 {source="MONDO:equivalentTo"} xref: SCTID:234590006 {source="MONDO:equivalentTo"} @@ -268162,7 +271941,9 @@ synonym: "deficiency of IL-36R antagonist" EXACT [Orphanet:404546] synonym: "deficiency of IL-36Ra" EXACT [Orphanet:404546] synonym: "deficiency of the interleukin-36 receptor antagonist" EXACT [NCIT:C119057] synonym: "DITRA" EXACT ABBREVIATION [NCIT:C119057, OMIM:614204] +synonym: "familial generalised pustular psoriasis" EXACT OMO:0003005 [] synonym: "familial generalized pustular psoriasis" EXACT [NCIT:C119057] +synonym: "generalised pustular psoriasis" RELATED OMO:0003005 [] synonym: "generalized pustular psoriasis" RELATED [OMIM:614204] synonym: "GPP" RELATED ABBREVIATION [OMIM:614204, Orphanet:247353] synonym: "IL36RN psoriasis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -268899,19 +272680,24 @@ id: MONDO:0013662 name: Barrett esophagus def: "Esophageal lesion lined with columnar metaplastic epithelium which is flat or villiform. Barrett epithelium is characterized by two different types of cells: goblet cells and columnar cells. The symptomatology of Barrett esophagus is that of gastro-esophageal reflux. It is the precursor of most esophageal adenocarcinomas. (WHO)" [NCIT:C2891] synonym: "adenocarcinoma of esophagus" RELATED [OMIM:614266] +synonym: "adenocarcinoma of oesophagus" RELATED OMO:0003005 [] synonym: "Barrett esophagus" EXACT [DOID:9206, MTH:NOCODE, NCIT:C2891, OMIM:614266] synonym: "Barrett esophagus/esophageal adenocarcinoma" EXACT [OMIM:614266, OMIM:genemap2] synonym: "Barrett metaplasia" RELATED [OMIM:614266] -synonym: "Barrett's esophagus" EXACT [NCIT:C2891] -synonym: "Barrett's esophagus" EXACT [DOID:9206] +synonym: "Barrett's esophagus" EXACT [DOID:9206, NCIT:C2891] synonym: "Barrett's esophagus with esophagitis" EXACT [DOID:9206] +synonym: "Barrett's oesophagus" EXACT OMO:0003005 [] +synonym: "Barrett's oesophagus with esophagitis" EXACT OMO:0003005 [] synonym: "Barrett's ulcer of esophagus" EXACT [DOID:9206] +synonym: "Barrett's ulcer of oesophagus" EXACT OMO:0003005 [] synonym: "Barretts syndrome" EXACT [DOID:9206] synonym: "BE" EXACT ABBREVIATION [NCIT:C2891] synonym: "cello" EXACT [NCIT:C2891] synonym: "CLE" EXACT ABBREVIATION [DOID:9206, NCIT:C2891] synonym: "columnar epithelial-lined Lower esophagus" EXACT [NCIT:C2891] +synonym: "columnar epithelial-lined Lower oesophagus" EXACT OMO:0003005 [] synonym: "columnar-lined esophagus" EXACT [NCIT:C2891] +synonym: "columnar-lined oesophagus" EXACT OMO:0003005 [] synonym: "ulcerative esophagitis" EXACT [DOID:9206] xref: DOID:9206 {source="MONDO:equivalentTo", source="EFO:0000280"} xref: EFO:0000280 {source="DOID:9206", source="MONDO:equivalentTo"} @@ -269503,10 +273289,13 @@ name: BAP1-related tumor predisposition syndrome def: "BAP1-related tumor predisposition syndrome (TPDS) is an inherited cancer-predisposing syndrome, associated with germline mutations in BAP1 tumor suppressor gene. The most commonly observed cancer types include uveal melanoma, malignant mesothelioma, renal cell carcinoma, lung, ovarian, pancreatic, breast cancer and meningioma, with variable age of onset. Common cutaneous manifestations include malignant melanoma, basal cell carcinoma and benign melanocytic BAP1-mutated atypical intradermal tumors (MBAIT) presenting as multiple skin-coloured to reddish-brown dome-shaped to pedunculated, well-circumscribed papules with an average size of 5 mm, histologically predominantly composed of epithelioid melanocytes with abundant amphophilic cytoplasm, prominent nucleoli and large, vesicular nuclei that vary substantially in size and shape." [Orphanet:289539] subset: ordo_disease {source="Orphanet:289539"} synonym: "BAP1 tumor predisposition syndrome" RELATED [GARD:0013219] +synonym: "BAP1 tumour predisposition syndrome" RELATED OMO:0003005 [] synonym: "BAP1-related tumor predisposition syndrome" EXACT CLINGEN_PREFERRED [] synonym: "TPDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614327] synonym: "tumor predisposition syndrome" RELATED [MONDO:Lexical, OMIM:614327] synonym: "tumor susceptibility linked to germline BAP1 mutations" EXACT [Orphanet:289539] +synonym: "tumour predisposition syndrome" RELATED OMO:0003005 [] +synonym: "tumour susceptibility linked to germline BAP1 mutations" EXACT OMO:0003005 [] xref: OMIM:614327 {source="Orphanet:289539/e", source="MONDO:equivalentTo", source="Orphanet:289539"} xref: Orphanet:289539 {source="MONDO:equivalentTo", source="OMIM:614327"} xref: SCTID:765057007 {source="MONDO:equivalentTo"} @@ -270144,6 +273933,7 @@ synonym: "abortion, spontaneous, recurrent" RELATED [OMIM:614389] synonym: "embryonic loss, recurrent" RELATED [OMIM:614389] synonym: "F5 pregnancy loss, recurrent, susceptibility" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "fetal loss, recurrent, susceptibility to" RELATED [OMIM:614389] +synonym: "foetal loss, recurrent, susceptibility to" RELATED OMO:0003005 [] synonym: "miscarriage, recurrent" RELATED [OMIM:614389] synonym: "pregnancy loss, recurrent, susceptibility caused by mutation in F5" EXACT [MONDO:design_pattern] synonym: "pregnancy loss, recurrent, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:614389] @@ -270241,6 +274031,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013731 name: MEGF10-related myopathy subset: ordo_disease {source="Orphanet:439212"} +synonym: "A congenital myopathy caused by mutations in the multiple epidermal growth factor-like domains 10 (MEGF10) gene, which causes early-onset myopathy characterised by severe weakness, scoliosis, joint contractures, areflexia, respiratory distress, and dysphagia, and a milder phenotype of minicore myopathy." EXACT OMO:0003005 [] synonym: "A congenital myopathy caused by mutations in the multiple epidermal growth factor-like domains 10 (MEGF10) gene, which causes early-onset myopathy characterized by severe weakness, scoliosis, joint contractures, areflexia, respiratory distress, and dysphagia, and a milder phenotype of minicore myopathy." EXACT [PMID:22371254, PMID:27460346] synonym: "congenital myopathy 10A, severe variant" EXACT [OMIM:614399] synonym: "early-onset myopathy, areflexia, respiratory distress and dysphagia" RELATED [GARD:0012199] @@ -272215,12 +276006,18 @@ name: congenital diarrhea 6 def: "Any congenital diarrhea in which the cause of the disease is a mutation in the GUCY2C gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:314373"} synonym: "chronic diarrhea due to guanylate cyclase 2C overactivity" EXACT [DOID:0060780] +synonym: "chronic diarrhoea due to guanylate cyclase 2C overactivity" EXACT OMO:0003005 [] synonym: "congenital diarrhea caused by mutation in GUCY2C" EXACT [MONDO:design_pattern] synonym: "congenital diarrhea type 6" EXACT [DOID:0060780, MONDORULE:1] +synonym: "congenital diarrhoea caused by mutation in GUCY2C" EXACT OMO:0003005 [] +synonym: "congenital diarrhoea type 6" EXACT OMO:0003005 [] synonym: "DIAR6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614616] synonym: "diarrhea 6" RELATED [MONDO:Lexical, OMIM:614616] synonym: "diarrhea type 6" EXACT [MONDORULE:1, OMIM:614616] +synonym: "diarrhoea 6" RELATED OMO:0003005 [] +synonym: "diarrhoea type 6" EXACT OMO:0003005 [] synonym: "GUCY2C congenital diarrhea" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +synonym: "GUCY2C congenital diarrhoea" EXACT OMO:0003005 [] xref: DOID:0060780 {source="MONDO:equivalentTo"} xref: ICD10CM:P78.3 {source="DOID:0060780", source="Orphanet:314373", source="Orphanet:314373/attributed", source="Orphanet:314373/ntbt"} xref: OMIM:614616 {source="Orphanet:314373/e", source="DOID:0060780", source="MONDO:equivalentTo", source="Orphanet:314373"} @@ -272683,6 +276480,7 @@ replaced_by: MONDO:0044660 id: MONDO:0013851 name: autosomal dominant aplasia and myelodysplasia subset: ordo_disease {source="Orphanet:314399"} +synonym: "autosomal dominant aplastic anaemia and myelodysplasia" EXACT OMO:0003005 [] synonym: "autosomal dominant aplastic anemia and myelodysplasia" EXACT [Orphanet:314399] synonym: "BMFS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614675] synonym: "bone marrow failure syndrome 1" RELATED [MONDO:Lexical, OMIM:614675] @@ -273274,6 +277072,7 @@ property_value: confidence "0.5823588235294124" xsd:double [Term] id: MONDO:0013879 name: pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 +synonym: "aplastic anaemia" BROAD OMO:0003005 [] synonym: "aplastic anemia" BROAD [OMIM:614743, OMIM:genemap2] synonym: "PFBMFT2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614743] synonym: "pulmonary fibrosis and/or bone marrow failure, TELOMERE-RELATED, 2" RELATED [OMIM:614743] @@ -274126,6 +277925,7 @@ subset: predisposition synonym: "EIG12" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614847] synonym: "epilepsy, idiopathic generalized, susceptibility to, 12" EXACT [MONDO:Lexical, OMIM:614847] synonym: "epilepsy, idiopathic generalized, susceptibility to, type 12" EXACT [MONDORULE:2, OMIM:614847] +synonym: "susceptibility to idiopathic generalised epilepsy 12" RELATED OMO:0003005 [] synonym: "susceptibility to idiopathic generalized epilepsy 12" RELATED [OMIM:614847] xref: DOID:0111313 {source="MONDO:equivalentTo"} xref: OMIM:614847 {source="MONDO:equivalentTo"} @@ -275060,9 +278860,12 @@ id: MONDO:0013964 name: Diamond-Blackfan anemia 11 def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL26 gene." [MONDO:patterns/disease_series_by_gene] synonym: "DBA11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614900] +synonym: "Diamond-Blackfan anaemia caused by mutation in RPL26" EXACT OMO:0003005 [] +synonym: "Diamond-Blackfan Anaemia type 11" EXACT OMO:0003005 [] synonym: "Diamond-Blackfan anemia 11" EXACT [MONDO:Lexical, OMIM:614900] synonym: "Diamond-Blackfan anemia caused by mutation in RPL26" EXACT [MONDO:design_pattern] synonym: "Diamond-Blackfan Anemia type 11" EXACT [MONDORULE:2, OMIM:614900] +synonym: "RPL26 Diamond-Blackfan anaemia" EXACT OMO:0003005 [] synonym: "RPL26 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111892 {source="MONDO:equivalentTo"} xref: NCIT:C176920 {source="MONDO:equivalentTo"} @@ -277768,6 +281571,7 @@ subset: ordo_disease {source="Orphanet:300298"} synonym: "AHMIO2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615234] synonym: "anemia, hypochromic microcytic, with iron overload 2" RELATED [MONDO:Lexical, OMIM:615234] synonym: "anemia, hypochromic microcytic, with iron overload type 2" EXACT [MONDORULE:1, OMIM:615234] +synonym: "severe congenital hypochromic sideroblastic anaemia" EXACT OMO:0003005 [] synonym: "severe congenital hypochromic sideroblastic anemia" EXACT [Orphanet:300298] xref: ICD10CM:D64.0 {source="Orphanet:300298", source="Orphanet:300298/attributed", source="Orphanet:300298/ntbt"} xref: OMIM:615234 {source="Orphanet:300298", source="MONDO:equivalentTo", source="Orphanet:300298/e"} @@ -278057,7 +281861,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014108 name: Fanconi anemia complementation group Q def: "Any Fanconi anemia in which the cause of the disease is a mutation in the ERCC4 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ERCC4 Fanconi anaemia" EXACT OMO:0003005 [] synonym: "ERCC4 Fanconi anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +synonym: "Fanconi anaemia caused by mutation in ERCC4" EXACT OMO:0003005 [] +synonym: "Fanconi anaemia complementation group type Q" EXACT OMO:0003005 [] synonym: "Fanconi anemia caused by mutation in ERCC4" EXACT [MONDO:design_pattern] synonym: "Fanconi anemia complementation group type Q" EXACT [DOID:0111093, MONDORULE:1] synonym: "Fanconi anemia, complementation group Q" RELATED [MONDO:Lexical, OMIM:615272] @@ -278876,6 +282683,8 @@ subset: ordo_disease {source="Orphanet:785"} synonym: "estrogen insensitivity" RELATED [OMIM:615363] synonym: "estrogen resistance" RELATED [MONDO:Lexical, OMIM:615363] synonym: "ESTRR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615363] +synonym: "oestrogen insensitivity" RELATED OMO:0003005 [] +synonym: "oestrogen resistance" RELATED OMO:0003005 [] xref: EFO:0009042 {source="MONDO:equivalentTo"} xref: OMIM:615363 {source="Orphanet:785", source="MONDO:equivalentTo", source="Orphanet:785/e"} xref: Orphanet:785 {source="MONDO:equivalentTo", source="OMIM:615363"} @@ -279552,6 +283361,7 @@ subset: ordo_disease {source="Orphanet:412181"} synonym: "DST-related epidermolysis bullosa simplex" EXACT [Orphanet:412181] synonym: "EBS-AR BP230" EXACT [Orphanet:412181] synonym: "EBSB2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615425] +synonym: "epidermolysis bullosa simplex 3, localised or generalised intermediate, with bp230 deficiency" EXACT OMO:0003005 [] synonym: "epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency" EXACT [OMIM:615425, OMIM:genemap2] synonym: "epidermolysis bullosa simplex due to BP230 deficiency" EXACT [Orphanet:412181] synonym: "epidermolysis bullosa simplex, autosomal recessive 2" RELATED [MONDO:Lexical, OMIM:615425] @@ -280412,6 +284222,7 @@ name: triosephosphate isomerase deficiency def: "Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration." [Orphanet:868] subset: gard_rare {source="GARD:0005287"} subset: ordo_disease {source="Orphanet:868"} +synonym: "hemolytic anaemia due to triosephosphate isomerase deficiency" EXACT OMO:0003005 [] synonym: "hemolytic anemia due to triosephosphate isomerase deficiency" EXACT [OMIM:615512, OMIM:genemap2] synonym: "TPI deficiency" RELATED [GARD:0005287] synonym: "TPID" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615512] @@ -280849,8 +284660,11 @@ subset: predisposition synonym: "ALL3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615545] synonym: "leukemia, acute lymphoblastic, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:615545] synonym: "leukemia, acute lymphoblastic, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:615545] +synonym: "PAX5 precursor B-cell acute lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "PAX5 precursor B-cell acute lymphoblastic leukemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +synonym: "precursor B-cell acute lymphoblastic leukaemia caused by mutation in PAX5" EXACT OMO:0003005 [] synonym: "precursor B-cell acute lymphoblastic leukemia caused by mutation in PAX5" EXACT [MONDO:design_pattern] +synonym: "susceptibility to acute lymphoblastic leukaemia 3" RELATED OMO:0003005 [] synonym: "susceptibility to acute lymphoblastic leukemia 3" RELATED [OMIM:615545] xref: OMIM:615545 {source="MONDO:equivalentTo"} xref: Orphanet:99860 {source="OMIM:615545"} @@ -280953,9 +284767,12 @@ id: MONDO:0014245 name: Diamond-Blackfan anemia 12 def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL15 gene." [MONDO:patterns/disease_series_by_gene] synonym: "DBA12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615550] +synonym: "Diamond-Blackfan anaemia caused by mutation in RPL15" EXACT OMO:0003005 [] +synonym: "Diamond-Blackfan Anaemia type 12" EXACT OMO:0003005 [] synonym: "Diamond-Blackfan anemia 12" EXACT [MONDO:Lexical, OMIM:615550] synonym: "Diamond-Blackfan anemia caused by mutation in RPL15" EXACT [MONDO:design_pattern] synonym: "Diamond-Blackfan Anemia type 12" EXACT [MONDORULE:2, OMIM:615550] +synonym: "RPL15 Diamond-Blackfan anaemia" EXACT OMO:0003005 [] synonym: "RPL15 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111882 {source="MONDO:equivalentTo"} xref: OMIM:615550 {source="MONDO:equivalentTo"} @@ -283197,6 +287014,7 @@ id: MONDO:0014355 name: cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis synonym: "cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis" EXACT [MONDO:Lexical, OMIM:615821] synonym: "DCWHKTA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615821] +synonym: "dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis" EXACT OMO:0003005 [] synonym: "dilated cardiomyopathy with wooly hair, keratoderma, and tooth agenesis" EXACT [OMIM:615821, OMIM:genemap2] xref: OMIM:615821 {source="MONDO:equivalentTo"} xref: Orphanet:65282 {source="OMIM:615821"} @@ -283627,12 +287445,19 @@ def: "Congenital chronic diarrhea with protein-losing enteropathy is a rare, gen subset: ordo_disease {source="Orphanet:329242"} synonym: "congenital chronic diarrhea with exudative enteropathy" EXACT [DOID:0060778, Orphanet:329242] synonym: "congenital chronic diarrhea with protein-losing enteropathy" EXACT [DOID:0060778] +synonym: "congenital chronic diarrhoea with exudative enteropathy" EXACT OMO:0003005 [] +synonym: "congenital chronic diarrhoea with protein-losing enteropathy" EXACT OMO:0003005 [] synonym: "congenital diarrhea caused by mutation in DGAT1" EXACT [MONDO:design_pattern] +synonym: "congenital diarrhoea caused by mutation in DGAT1" EXACT OMO:0003005 [] synonym: "DGAT1 congenital diarrhea" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +synonym: "DGAT1 congenital diarrhoea" EXACT OMO:0003005 [] synonym: "DIAR7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615863] synonym: "diarrhea 7" RELATED [MONDO:Lexical, OMIM:615863] synonym: "diarrhea 7, protein-losing enteropathy type" EXACT [OMIM:615863, OMIM:genemap2] synonym: "diarrhea type 7" EXACT [MONDORULE:1, OMIM:615863] +synonym: "diarrhoea 7" RELATED OMO:0003005 [] +synonym: "diarrhoea 7, protein-losing enteropathy type" EXACT OMO:0003005 [] +synonym: "diarrhoea type 7" EXACT OMO:0003005 [] xref: DOID:0060778 {source="MONDO:equivalentTo"} xref: ICD10CM:P78.3 {source="DOID:0060778", source="Orphanet:329242", source="Orphanet:329242/attributed", source="Orphanet:329242/ntbt"} xref: OMIM:615863 {source="MONDO:equivalentTo", source="DOID:0060778", source="Orphanet:329242", source="Orphanet:329242/e"} @@ -283969,6 +287794,7 @@ def: "Any hypotrichosis in which the cause of the disease is a mutation in the K synonym: "hypotrichosis 13" EXACT [MONDO:Lexical, OMIM:615896] synonym: "hypotrichosis caused by mutation in KRT71" EXACT [MONDO:design_pattern] synonym: "hypotrichosis type 13" EXACT [DOID:0110710, MONDORULE:2, OMIM:615896] +synonym: "hypotrichosis with woolly hair" EXACT OMO:0003005 [] synonym: "hypotrichosis with wooly hair" EXACT [DOID:0110710, OMIM:615896] synonym: "HYPT13" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615896] synonym: "hypt13" EXACT [DOID:0110710] @@ -284053,9 +287879,12 @@ id: MONDO:0014394 name: Diamond-Blackfan anemia 13 def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS29 gene." [MONDO:patterns/disease_series_by_gene] synonym: "DBA13" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615909] +synonym: "Diamond-Blackfan anaemia caused by mutation in RPS29" EXACT OMO:0003005 [] +synonym: "Diamond-Blackfan Anaemia type 13" EXACT OMO:0003005 [] synonym: "Diamond-Blackfan anemia 13" EXACT [MONDO:Lexical, OMIM:615909] synonym: "Diamond-Blackfan anemia caused by mutation in RPS29" EXACT [MONDO:design_pattern] synonym: "Diamond-Blackfan Anemia type 13" EXACT [MONDORULE:2, OMIM:615909] +synonym: "RPS29 Diamond-Blackfan anaemia" EXACT OMO:0003005 [] synonym: "RPS29 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111889 {source="MONDO:equivalentTo"} xref: OMIM:615909 {source="MONDO:equivalentTo"} @@ -284589,6 +288418,7 @@ synonym: "GCCR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615962] synonym: "Gccr deficiency" RELATED [OMIM:615962] synonym: "Gcr deficiency" RELATED [OMIM:615962] synonym: "glucocorticoid receptor deficiency" RELATED [OMIM:615962] +synonym: "glucocorticoid resistance, generalised" RELATED OMO:0003005 [] synonym: "glucocorticoid resistance, generalized" RELATED [MONDO:Lexical, OMIM:615962] synonym: "Grl deficiency" RELATED [OMIM:615962] xref: ICD10CM:E25.8 {source="Orphanet:786", source="Orphanet:786/attributed", source="Orphanet:786/ntbt"} @@ -285965,6 +289795,7 @@ id: MONDO:0014487 name: congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome def: "Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia, characterized by severe microcytic anemia, B-cell lymphopenia, panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful." [Orphanet:369861] subset: ordo_disease {source="Orphanet:369861"} +synonym: "sideroblastic anaemia with B-cell immunodeficiency, periodic fevers, and developmental delay" RELATED OMO:0003005 [] synonym: "sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay" RELATED [MONDO:Lexical, OMIM:616084] synonym: "SIFD" EXACT ABBREVIATION [DOID:0080209, MONDO:Lexical, OMIM:616084] synonym: "SIFD syndrome" EXACT [Orphanet:369861] @@ -286056,10 +289887,13 @@ id: MONDO:0014492 name: wooly hair-palmoplantar keratoderma syndrome def: "Woolly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/wooly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although wooly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent." [Orphanet:420686] subset: ordo_disease {source="Orphanet:420686"} +synonym: "keratoderma with woolly hair type IV" EXACT OMO:0003005 [] synonym: "keratoderma with wooly hair type IV" EXACT [Orphanet:420686] synonym: "KWWH type IV" EXACT [Orphanet:420686] +synonym: "palmoplantar keratoderma and woolly hair" RELATED OMO:0003005 [] synonym: "palmoplantar keratoderma and wooly hair" RELATED [MONDO:Lexical, OMIM:616099] synonym: "PPKWH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616099] +synonym: "woolly hair-palmoplantar hyperkeratosis syndrome" EXACT OMO:0003005 [] synonym: "wooly hair-palmoplantar hyperkeratosis syndrome" EXACT [Orphanet:420686] xref: ICD10CM:Q82.8 {source="Orphanet:420686/attributed", source="Orphanet:420686/ntbt", source="Orphanet:420686"} xref: OMIM:616099 {source="Orphanet:420686", source="MONDO:equivalentTo", source="Orphanet:420686/e"} @@ -286107,7 +289941,9 @@ id: MONDO:0014494 name: psoriasis 15, pustular, susceptibility to def: "Any generalized pustular psoriasis in which the cause of the disease is a mutation in the AP1S3 gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition +synonym: "AP1S3 generalised pustular psoriasis" EXACT OMO:0003005 [] synonym: "AP1S3 generalized pustular psoriasis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +synonym: "generalised pustular psoriasis caused by mutation in AP1S3" EXACT OMO:0003005 [] synonym: "generalized pustular psoriasis caused by mutation in AP1S3" EXACT [MONDO:design_pattern] synonym: "psoriasis 15, pustular, susceptibility to" EXACT [MONDO:Lexical, OMIM:616106] synonym: "PSORS15" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616106] @@ -286610,9 +290446,13 @@ name: generalized epilepsy with febrile seizures plus, type 9 def: "Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the STX1B gene." [MONDO:patterns/disease_series_by_gene] synonym: "Gefs+, type 9" RELATED [OMIM:616172] synonym: "GEFSP9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616172] +synonym: "generalised epilepsy with febrile seizures plus caused by mutation in STX1B" EXACT OMO:0003005 [] +synonym: "generalised epilepsy with febrile seizures plus caused by mutation in STX1b" EXACT OMO:0003005 [] synonym: "generalized epilepsy with febrile seizures plus caused by mutation in STX1B" EXACT [] synonym: "generalized epilepsy with febrile seizures plus caused by mutation in STX1b" EXACT [MONDO:design_pattern] synonym: "generalized epilepsy with febrile seizures plus, type 9" EXACT [MONDO:Lexical, OMIM:616172] +synonym: "STX1B generalised epilepsy with febrile seizures plus" EXACT OMO:0003005 [] +synonym: "STX1b generalised epilepsy with febrile seizures plus" EXACT OMO:0003005 [] synonym: "STX1B generalized epilepsy with febrile seizures plus" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "STX1b generalized epilepsy with febrile seizures plus" EXACT [MONDO:design_pattern] xref: DOID:0111301 {source="MONDO:equivalentTo"} @@ -287382,8 +291222,11 @@ id: MONDO:0014555 name: peeling skin syndrome type A def: "Peeling skin syndrome (PSS) type A is a non inflammatory form of generalized PSS, a type of ichthyosis, characterized by generalized white scaling and superficial painless peeling of the skin." [Orphanet:263548] subset: ordo_clinical_subtype {source="Orphanet:263548"} +synonym: "generalised deciduous skin type A" EXACT OMO:0003005 [] +synonym: "generalised peeling skin syndrome type A" EXACT OMO:0003005 [] synonym: "generalized deciduous skin type A" EXACT [Orphanet:263548] synonym: "generalized peeling skin syndrome type A" EXACT [Orphanet:263548] +synonym: "non-inflammatory generalised peeling skin syndrome type A." EXACT OMO:0003005 [] synonym: "non-inflammatory generalized peeling skin syndrome type A." EXACT [Orphanet:263548] synonym: "non-inflammatory peeling skin syndrome type A" EXACT [Orphanet:263548] synonym: "peeling skin syndrome 3" RELATED [MONDO:Lexical, OMIM:616265] @@ -289121,11 +292964,14 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12653/dock2- id: MONDO:0014638 name: Fanconi anemia complementation group T def: "Any Fanconi anemia in which the cause of the disease is a mutation in the UBE2T gene." [MONDO:patterns/disease_series_by_gene] +synonym: "Fanconi anaemia caused by mutation in UBE2T" EXACT OMO:0003005 [] +synonym: "Fanconi anaemia complementation group type T" EXACT OMO:0003005 [] synonym: "Fanconi anemia caused by mutation in UBE2T" EXACT [MONDO:design_pattern] synonym: "Fanconi anemia complementation group type T" EXACT [DOID:0111081, MONDORULE:1] synonym: "Fanconi anemia, complementation group T" RELATED [MONDO:Lexical, OMIM:616435] synonym: "Fanconi Anemia, complementation group type T" EXACT [MONDORULE:1, OMIM:616435] synonym: "FANCT" EXACT ABBREVIATION [DOID:0111081, MONDO:Lexical, OMIM:616435] +synonym: "UBE2T Fanconi anaemia" EXACT OMO:0003005 [] synonym: "UBE2T Fanconi anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111081 {source="MONDO:equivalentTo"} xref: OMIM:616435 {source="DOID:0111081", source="MONDO:equivalentTo"} @@ -289558,6 +293404,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014661 name: epidermolysis bullosa simplex with nail dystrophy synonym: "EBSND" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616487] +synonym: "epidermolysis bullosa simplex 5D, generalised intermediate, autosomal recessive" EXACT OMO:0003005 [] synonym: "epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive" EXACT [OMIM:616487, OMIM:genemap2] synonym: "epidermolysis bullosa simplex with nail dystrophy" EXACT [MONDO:Lexical, OMIM:616487] xref: OMIM:616487 {source="MONDO:equivalentTo"} @@ -291059,6 +294906,7 @@ synonym: "EIG14" EXACT ABBREVIATION [OMIM:616685] synonym: "epilepsy, idiopathic generalized, susceptibility to, 14" EXACT [OMIM:616685] synonym: "epilepsy, idiopathic generalized, susceptibility to, 14; EIG14" EXACT [] synonym: "epilepsy, idiopathic generalized, susceptibility to, type 14" EXACT [MONDORULE:2, OMIM:616685] +synonym: "susceptibility to idiopathic generalised epilepsy 14" EXACT OMO:0003005 [] synonym: "susceptibility to idiopathic generalized epilepsy 14" EXACT [OMIM:616685] xref: DOID:0111315 {source="MONDO:equivalentTo"} xref: OMIM:616685 {source="MONDO:equivalentTo"} @@ -291234,6 +295082,7 @@ synonym: "DESANTO-SHINAWI syndrome" BROAD [OMIM:616708] synonym: "Desanto-Shinawi syndrome" BROAD [OMIM:616708] synonym: "DESSH" BROAD ABBREVIATION [OMIM:616708] synonym: "developmental delay, behavioral abnormalities, Facial Dysmorphism, and ocular abnormalities" RELATED [OMIM:616708] +synonym: "developmental delay, behavioural abnormalities, Facial Dysmorphism, and ocular abnormalities" RELATED OMO:0003005 [] synonym: "facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation" EXACT [Orphanet:466950] xref: OMIM:616708 {source="Orphanet:466950", source="MONDO:equivalentTo"} xref: Orphanet:466950 {source="MONDO:equivalentTo"} @@ -291714,7 +295563,11 @@ id: MONDO:0014765 name: wooly hair, autosomal recessive 3 def: "Any wooly hair in which the cause of the disease is a mutation in the KRT25 gene." [MONDO:patterns/disease_series_by_gene] synonym: "ARWH3" EXACT ABBREVIATION [OMIM:616760] +synonym: "KRT25 woolly hair (disease)" EXACT OMO:0003005 [] synonym: "KRT25 wooly hair (disease)" EXACT [MONDO:patterns/disease_series_by_gene] +synonym: "woolly hair (disease) caused by mutation in KRT25" EXACT OMO:0003005 [] +synonym: "woolly hair, autosomal recessive 3, with hypotrichosis" RELATED OMO:0003005 [] +synonym: "woolly hair, autosomal recessive type 3" EXACT OMO:0003005 [] synonym: "wooly hair (disease) caused by mutation in KRT25" EXACT [] synonym: "wooly hair, autosomal recessive 3" EXACT [OMIM:616760] synonym: "wooly hair, autosomal recessive 3, with hypotrichosis" RELATED [OMIM:616760] @@ -291969,6 +295822,9 @@ synonym: "Wilms tumor 6" EXACT [OMIM:616806] synonym: "Wilms tumor 6, susceptibility to" RELATED [OMIM:616806, OMIM:genemap2] synonym: "Wilms tumor 6; WT6" EXACT [] synonym: "Wilms tumor type 6" EXACT [MONDORULE:1, OMIM:616806] +synonym: "Wilms tumour 6, susceptibility to" RELATED OMO:0003005 [] +synonym: "Wilms tumour 6; WT6" EXACT OMO:0003005 [] +synonym: "Wilms tumour type 6" EXACT OMO:0003005 [] synonym: "WT6" EXACT ABBREVIATION [OMIM:616806] xref: OMIM:616806 {source="MONDO:equivalentTo"} xref: UMLS:C3891301 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -292322,6 +296178,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0014797 name: lymphatic malformation 6 +synonym: "generalised lymphatic dysplasia of Fotiou" RELATED OMO:0003005 [] synonym: "generalized lymphatic dysplasia of Fotiou" RELATED [OMIM:616843] synonym: "LMPH3" EXACT ABBREVIATION [OMIM:616843] synonym: "lymphedema, hereditary, 3" RELATED [OMIM:616843] @@ -292442,8 +296299,10 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0014804 name: sideroblastic anemia 3 subset: ordo_disease {source="Orphanet:255132"} +synonym: "adult-onset autosomal recessive sideroblastic anaemia" EXACT OMO:0003005 [] synonym: "adult-onset autosomal recessive sideroblastic anemia" EXACT [Orphanet:255132] synonym: "anemia, sideroblastic, 3, pyridoxine-refractory" EXACT [OMIM:616860] +synonym: "GLRX5-related sideroblastic anaemia" EXACT OMO:0003005 [] synonym: "GLRX5-related sideroblastic anemia" EXACT [Orphanet:255132] synonym: "SIDBA3" EXACT ABBREVIATION [OMIM:616860] xref: DOID:0080343 {source="MONDO:equivalentTo"} @@ -292534,11 +296393,15 @@ id: MONDO:0014808 name: congenital secretory sodium diarrhea 8 def: "Any secretory diarrhea in which the cause of the disease is a mutation in the SLC9A3 gene." [MONDO:patterns/disease_series_by_gene] synonym: "congenital secretory sodium diarrhea type 8" EXACT [DOID:0060777, MONDORULE:1] +synonym: "congenital secretory sodium diarrhoea type 8" EXACT OMO:0003005 [] synonym: "DIAR8" EXACT ABBREVIATION [DOID:0060777, OMIM:616868] synonym: "diarrhea 8, secretory sodium, congenital" EXACT [OMIM:616868] synonym: "diarrhea, congenital sodium" RELATED [OMIM:616868] +synonym: "diarrhoea 8, secretory sodium, congenital" EXACT OMO:0003005 [] synonym: "secretory diarrhea caused by mutation in SLC9A3" EXACT [MONDO:design_pattern] +synonym: "secretory diarrhoea caused by mutation in SLC9A3" EXACT OMO:0003005 [] synonym: "SLC9A3 secretory diarrhea" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +synonym: "SLC9A3 secretory diarrhoea" EXACT OMO:0003005 [] xref: DOID:0060777 {source="MONDO:equivalentTo"} xref: ICD10CM:P78.3 {source="DOID:0060777"} xref: OMIM:616868 {source="MONDO:equivalentTo", source="DOID:0060777"} @@ -293709,6 +297572,7 @@ id: MONDO:0014869 name: hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome subset: ordo_disease synonym: "HLASA" EXACT ABBREVIATION [OMIM:617021] +synonym: "hydrops, lactic acidosis, and sideroblastic anaemia" EXACT OMO:0003005 [] synonym: "hydrops, lactic acidosis, and sideroblastic anemia" EXACT [OMIM:617021] xref: OMIM:617021 {source="MONDO:equivalentTo", source="Orphanet:528091"} xref: Orphanet:528091 {source="MONDO:equivalentTo"} @@ -294032,6 +297896,7 @@ synonym: "mental retardation, autosomal recessive 55" EXACT DEPRECATED [OMIM:617 synonym: "mental retardation, autosomal recessive type 55" EXACT DEPRECATED [MONDORULE:2, OMIM:617051] synonym: "MRT55" EXACT ABBREVIATION [OMIM:617051] synonym: "neurodevelopmental disorder with microcephaly and gray sclerae" EXACT [OMIM:617051, OMIM:genemap2] +synonym: "neurodevelopmental disorder with microcephaly and grey sclerae" EXACT OMO:0003005 [] xref: OMIM:617051 {source="MONDO:equivalentTo", source="Orphanet:488627"} xref: Orphanet:488627 {source="MONDO:equivalentTo"} xref: UMLS:C4310745 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -294567,12 +298432,16 @@ name: Dias-Logan syndrome def: "Any BAFopathy in which the cause of the disease is a mutation in the BCL11A gene." [MONDO:patterns/OMIM_disease_series_by_gene, PMID:30580808] synonym: "BCL11A-related BAFopathy" EXACT [https://orcid.org/0000-0001-7451-4467, PMID:30580808] synonym: "BCL11A-related intellectual developmental disorder with persistence of fetal hemoglobin" RELATED [https://clinicalgenome.org/affiliation/40006/] +synonym: "BCL11A-related intellectual developmental disorder with persistence of foetal haemoglobin" RELATED OMO:0003005 [] synonym: "Dias-Logan syndrome" EXACT CLINGEN_PREFERRED [OMIM:617101] synonym: "Dias-Logan syndrome; DILOS" EXACT [] synonym: "DILOS" EXACT ABBREVIATION [OMIM:617101] synonym: "intellectual developmental disorder with hereditary persistence of fetal Hemoglobin" RELATED [OMIM:617101] +synonym: "intellectual developmental disorder with hereditary persistence of foetal Haemoglobin" RELATED OMO:0003005 [] synonym: "intellectual developmental disorder with persistence of fetal HEMOGLOBIN" RELATED [OMIM:617101] synonym: "intellectual developmental disorder with persistence of fetal Hemoglobin" RELATED [OMIM:617101] +synonym: "intellectual developmental disorder with persistence of foetal Haemoglobin" RELATED OMO:0003005 [] +synonym: "intellectual developmental disorder with persistence of foetal HEMOGLOBIN" RELATED OMO:0003005 [] xref: OMIM:617101 {source="MONDO:equivalentTo"} xref: UMLS:C4310833 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0003847 ! hereditary disease @@ -295382,6 +299251,7 @@ name: encephalopathy, progressive, early-onset, with brain edema and/or leukoenc subset: ordo_disease synonym: "encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy" EXACT [OMIM:617186] synonym: "encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy; PEBEL" EXACT [] +synonym: "encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy; PEBEL" EXACT OMO:0003005 [] synonym: "PEBEL" EXACT ABBREVIATION [OMIM:617186] xref: OMIMPS:617186 {source="MONDO:equivalentTo"} xref: UMLS:C4310675 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -295796,6 +299666,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014985 name: Fanconi anemia complementation group V def: "Any Fanconi anemia in which the cause of the disease is a mutation in the MAD2L2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "Fanconi anaemia caused by mutation in MAD2L2" EXACT OMO:0003005 [] +synonym: "Fanconi anaemia complementation group type V" EXACT OMO:0003005 [] synonym: "Fanconi anemia caused by mutation in MAD2L2" EXACT [MONDO:design_pattern] synonym: "Fanconi anemia complementation group type V" EXACT [DOID:0111080, MONDORULE:1] synonym: "Fanconi Anemia, complementation Group 5" RELATED [OMIM:617243] @@ -295803,6 +299675,7 @@ synonym: "Fanconi Anemia, complementation group type V" EXACT [MONDORULE:1, OMIM synonym: "Fanconi Anemia, complementation group V" EXACT [OMIM:617243] synonym: "Fanconi anemia, complementation GROUP V" RELATED [OMIM:617243] synonym: "FANCV" EXACT ABBREVIATION [DOID:0111080, OMIM:617243] +synonym: "MAD2L2 Fanconi anaemia" EXACT OMO:0003005 [] synonym: "MAD2L2 Fanconi anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111080 {source="MONDO:equivalentTo"} xref: OMIM:617243 {source="DOID:0111080", source="MONDO:equivalentTo"} @@ -295817,12 +299690,15 @@ property_value: confidence "2.5000000000000036" xsd:double id: MONDO:0014986 name: Fanconi anemia complementation group R def: "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "Fanconi anaemia caused by mutation in RAD51" EXACT OMO:0003005 [] +synonym: "Fanconi anaemia complementation group type R" EXACT OMO:0003005 [] synonym: "Fanconi anemia caused by mutation in RAD51" EXACT [MONDO:design_pattern] synonym: "Fanconi anemia complementation group type R" EXACT [DOID:0111090, MONDORULE:1] synonym: "Fanconi Anemia, complementation group R" EXACT [OMIM:617244] synonym: "Fanconi anemia, complementation GROUP R" RELATED [OMIM:617244] synonym: "Fanconi Anemia, complementation group type R" EXACT [MONDORULE:1, OMIM:617244] synonym: "FANCR" EXACT ABBREVIATION [DOID:0111090, OMIM:617244] +synonym: "RAD51 Fanconi anaemia" EXACT OMO:0003005 [] synonym: "RAD51 Fanconi anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111090 {source="MONDO:equivalentTo"} xref: OMIM:617244 {source="DOID:0111090", source="MONDO:equivalentTo"} @@ -295837,12 +299713,15 @@ property_value: confidence "2.5000000000000036" xsd:double id: MONDO:0014987 name: Fanconi anemia complementation group U def: "Any Fanconi anemia in which the cause of the disease is a mutation in the XRCC2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "Fanconi anaemia caused by mutation in XRCC2" EXACT OMO:0003005 [] +synonym: "Fanconi anaemia complementation group type U" EXACT OMO:0003005 [] synonym: "Fanconi anemia caused by mutation in XRCC2" EXACT [MONDO:design_pattern] synonym: "Fanconi anemia complementation group type U" EXACT [DOID:0111085, MONDORULE:1] synonym: "Fanconi Anemia, complementation group type U" EXACT [MONDORULE:1, OMIM:617247] synonym: "Fanconi Anemia, complementation group U" EXACT [OMIM:617247] synonym: "Fanconi anemia, complementation GROUP U" RELATED [OMIM:617247] synonym: "FANCU" EXACT ABBREVIATION [DOID:0111085, OMIM:617247] +synonym: "XRCC2 Fanconi anaemia" EXACT OMO:0003005 [] synonym: "XRCC2 Fanconi anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111085 {source="MONDO:equivalentTo"} xref: OMIM:617247 {source="DOID:0111085", source="MONDO:equivalentTo"} @@ -296173,6 +300052,7 @@ synonym: "EBSSH" EXACT ABBREVIATION [OMIM:617294] synonym: "epidermolysis bullosa simplex 6, generalized, with scarring and hair loss" EXACT [OMIM:617294, OMIM:genemap2] synonym: "epidermolysis bullosa simplex, generalized, with scarring and hair loss" EXACT [OMIM:617294] synonym: "epidermolysis bullosa simplex, generalized, with scarring and hair loss; EBSSH" EXACT [] +synonym: "generalised basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss" EXACT OMO:0003005 [] synonym: "generalized basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss" EXACT [OMIM:617294] xref: OMIM:617294 {source="Orphanet:508529", source="MONDO:equivalentTo"} xref: Orphanet:508529 {source="MONDO:equivalentTo"} @@ -296628,6 +300508,7 @@ synonym: "ABetaE22Q amyloidosis" EXACT [Orphanet:100006] synonym: "cerebral amyloid angiopathy, APP-related, Dutch variant" EXACT [DOID:0070028] synonym: "HCHWA, Dutch type" EXACT [Orphanet:100006] synonym: "HCHWA-D" EXACT [Orphanet:100006] +synonym: "hereditary cerebral haemorrhage with amyloidosis, Dutch type" EXACT OMO:0003005 [] synonym: "hereditary cerebral hemorrhage with amyloidosis, Dutch type" EXACT [Orphanet:100006] xref: ICD10EXP:E85.4+ {source="Orphanet:100006", source="Orphanet:100006/attributed", source="Orphanet:100006/ntbt"} xref: ICD10EXP:I68.0* {source="Orphanet:100006", source="Orphanet:100006/attributed", source="Orphanet:100006/ntbt"} @@ -296718,6 +300599,7 @@ synonym: "MDS-EB-1" EXACT [NCIT:C7167] synonym: "myelodysplastic syndrome with Excess blasts-1" EXACT [NCIT:C7167] synonym: "RAEB-1" EXACT [NCIT:C7167, Orphanet:100019] synonym: "RAEB-I" EXACT [NCIT:C7167] +synonym: "refractory anaemia with excess blasts type 1" RELATED OMO:0003005 [] synonym: "refractory anemia with excess blasts type 1" RELATED [Orphanet:100019] xref: ICD10CM:D46.2 {source="Orphanet:100019", source="Orphanet:100019/ntbt"} xref: NCIT:C7167 {source="MONDO:equivalentTo"} @@ -296734,6 +300616,7 @@ synonym: "MDS-EB-2" EXACT [NCIT:C7168] synonym: "myelodysplastic syndrome with Excess blasts-2" EXACT [NCIT:C7168] synonym: "RAEB-2" EXACT [NCIT:C7168, Orphanet:100020] synonym: "RAEB-II" EXACT [NCIT:C7168] +synonym: "refractory anaemia with excess blasts type 2" RELATED OMO:0003005 [] synonym: "refractory anemia with excess blasts type 2" RELATED [Orphanet:100020] xref: ICD10CM:D46.2 {source="Orphanet:100020/ntbt", source="Orphanet:100020"} xref: NCIT:C7168 {source="MONDO:equivalentTo"} @@ -296900,6 +300783,7 @@ subset: ordo_etiological_subtype {source="Orphanet:100050"} synonym: "HAE 1" EXACT [Orphanet:100050] synonym: "HAE-I" EXACT [Orphanet:100050] synonym: "hereditary angioneurotic edema type 1" EXACT [Orphanet:100050] +synonym: "hereditary angioneurotic oedema type 1" EXACT OMO:0003005 [] xref: ICD10CM:D84.1 {source="Orphanet:100050/attributed", source="Orphanet:100050/ntbt", source="Orphanet:100050"} xref: ICD9:279.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538577 {source="Orphanet:100050/e", source="Orphanet:100050"} @@ -296917,6 +300801,7 @@ subset: ordo_etiological_subtype {source="Orphanet:100051"} synonym: "HAE 2" EXACT [Orphanet:100051] synonym: "HAE-II" EXACT [Orphanet:100051] synonym: "hereditary angioneurotic edema type 2" EXACT [Orphanet:100051] +synonym: "hereditary angioneurotic oedema type 2" EXACT OMO:0003005 [] xref: ICD10CM:D84.1 {source="Orphanet:100051/attributed", source="Orphanet:100051/ntbt", source="Orphanet:100051"} xref: Orphanet:100051 {source="MONDO:equivalentTo"} xref: UMLS:C0398776 {source="Orphanet:100051/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:100051"} @@ -296931,6 +300816,7 @@ subset: ordo_clinical_subtype {source="Orphanet:100055"} synonym: "AAE 2" EXACT [Orphanet:100055] synonym: "AAE II" EXACT [Orphanet:100055] synonym: "acquired angioneurotic edema type 2" EXACT [Orphanet:100055] +synonym: "acquired angioneurotic oedema type 2" EXACT OMO:0003005 [] xref: ICD10CM:T78.3 {source="Orphanet:100055", source="Orphanet:100055/ntbt"} xref: Orphanet:100055 {source="MONDO:equivalentTo"} xref: UMLS:CN197347 {source="MONDO:equivalentTo"} @@ -296942,6 +300828,7 @@ name: acquired angioedema type 1 def: "Acquired angioedema type 1 (AAE 1) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." [Orphanet:100056] subset: ordo_clinical_subtype {source="Orphanet:100056"} synonym: "acquired angioneurotic edema type 1" EXACT [Orphanet:100056] +synonym: "acquired angioneurotic oedema type 1" EXACT OMO:0003005 [] xref: ICD10CM:T78.3 {source="Orphanet:100056/ntbt", source="Orphanet:100056"} xref: Orphanet:100056 {source="MONDO:equivalentTo"} xref: UMLS:CN197348 {source="MONDO:equivalentTo"} @@ -296957,9 +300844,11 @@ synonym: "AEACEI" RELATED ABBREVIATION [OMIM:300909] synonym: "angioedema induced by ACE inhibitors, susceptibility to" RELATED [OMIM:300909] synonym: "Raas-blocker-induced angioedema" EXACT [Orphanet:100057] synonym: "Raas-blocker-induced angioneurotic edema" EXACT [Orphanet:100057] +synonym: "Raas-blocker-induced angioneurotic oedema" EXACT OMO:0003005 [] synonym: "RAE" EXACT ABBREVIATION [Orphanet:100057] synonym: "reactive angioendotheliomatosis" RELATED [GARD:0009445] synonym: "renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema" EXACT [Orphanet:100057] +synonym: "renin-angiotensin-aldosterone system-blocker-induced angioneurotic oedema" EXACT OMO:0003005 [] synonym: "susceptibility to angioedema induced by ace inhibitors" RELATED [OMIM:300909] xref: ICD10CM:T78.3 {source="Orphanet:100057", source="Orphanet:100057/ntbt"} xref: MESH:C535293 {source="MONDO:equivalentTo"} @@ -297043,10 +300932,13 @@ subset: ordo_disease {source="Orphanet:100075"} synonym: "gastric NET" EXACT [NCIT:C95871] synonym: "gastric NET G1/2" EXACT [MONDO:cjm] synonym: "gastric neuroendocrine tumor" EXACT [NCIT:C95871] +synonym: "gastric neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "gastric well differentiated endocrine tumor" EXACT [NCIT:C95871] synonym: "gastric well differentiated endocrine tumor/carcinoma" EXACT [NCIT:C95871] +synonym: "gastric well differentiated endocrine tumour" EXACT OMO:0003005 [] synonym: "GNET" EXACT ABBREVIATION [Orphanet:100075] synonym: "well-differentiated neuroendocrine tumors of the stomach" RELATED [ONCOTREE:SWDNET] +synonym: "well-differentiated neuroendocrine tumours of the stomach" RELATED OMO:0003005 [] xref: NCIT:C95871 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: ONCOTREE:SWDNET {source="MONDO:equivalentTo"} xref: UMLS:C3272399 {source="MONDO:equivalentTo", source="NCIT:C95871"} @@ -297065,6 +300957,7 @@ def: "A well differentiated, low or intermediate grade tumor with neuroendocrine subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:100076"} synonym: "duodenal neuroendocrine tumor" EXACT [NCIT:C135080] +synonym: "duodenal neuroendocrine tumour" EXACT OMO:0003005 [] xref: NCIT:C135080 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: Orphanet:100076 {source="MONDO:equivalentTo"} xref: UMLS:CN197356 {source="MONDO:equivalentTo"} @@ -297084,6 +300977,7 @@ comment: Editor note: TODO apply G1/G2 pattern subset: ordo_disease {source="Orphanet:100077"} synonym: "jejunal neuroendocrine neoplasm" EXACT [Orphanet:100077] synonym: "jejunal neuroendocrine tumor" RELATED [Orphanet:100077] +synonym: "jejunal neuroendocrine tumour" RELATED OMO:0003005 [] xref: NCIT:C135090 {source="MONDO:equivalentTo"} xref: Orphanet:100077 {source="MONDO:equivalentTo"} xref: UMLS:CN197357 {source="MONDO:equivalentTo"} @@ -297102,6 +300996,7 @@ comment: Editor note: TODO apply G1/G2 pattern subset: ordo_disease {source="Orphanet:100078"} synonym: "ileal neuroendocrine neoplasm" EXACT [Orphanet:100078] synonym: "ileal neuroendocrine tumor" RELATED [Orphanet:100078] +synonym: "ileal neuroendocrine tumour" RELATED OMO:0003005 [] xref: NCIT:C135092 {source="MONDO:equivalentTo"} xref: Orphanet:100078 {source="MONDO:equivalentTo"} xref: UMLS:CN197358 {source="MONDO:equivalentTo"} @@ -297121,13 +301016,17 @@ subset: ordo_disease {source="Orphanet:100079"} synonym: "appendiceal NEN" EXACT [Orphanet:100079] synonym: "appendiceal neuroendocrine neoplasm" EXACT [Orphanet:100079] synonym: "appendiceal neuroendocrine tumor" EXACT [Orphanet:100079] +synonym: "appendiceal neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "appendix NET" EXACT [NCIT:C96422] synonym: "appendix neuroendocrine tumor" EXACT [NCIT:C96422] +synonym: "appendix neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "appendix well differentiated endocrine tumor" EXACT [NCIT:C96422] synonym: "appendix well differentiated endocrine tumor/carcinoma" EXACT [NCIT:C96422] +synonym: "appendix well differentiated endocrine tumour" EXACT OMO:0003005 [] synonym: "NEN of appendix" EXACT [Orphanet:100079] synonym: "neuroendocrine neoplasm of appendix" RELATED [Orphanet:100079] synonym: "well-differentiated neuroendocrine tumor of the appendix" RELATED [ONCOTREE:AWDNET] +synonym: "well-differentiated neuroendocrine tumour of the appendix" RELATED OMO:0003005 [] xref: ICD10CM:C18.1 {source="Orphanet:100079", source="Orphanet:100079/ntbt"} xref: ICD10CM:D37.3 {source="Orphanet:100079", source="Orphanet:100079/ntbt"} xref: NCIT:C96422 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -297149,7 +301048,9 @@ name: neuroendocrine tumor of the colon, well differentiated, low or intermediat def: "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the colon." [NCIT:C135212] subset: ordo_disease {source="Orphanet:100080"} synonym: "carcinoid tumor of colon" BROAD [MONDO:cjm] +synonym: "carcinoid tumour of colon" BROAD OMO:0003005 [] synonym: "colon neuroendocrine tumor" BROAD [NCIT:C135212] +synonym: "colon neuroendocrine tumour" BROAD OMO:0003005 [] synonym: "colonic NET" EXACT [Orphanet:100080] synonym: "NET of the colon" EXACT [Orphanet:100080] synonym: "neuroendocrine neoplasm of the colon" BROAD [Orphanet:100080] @@ -297168,7 +301069,9 @@ name: neuroendocrine tumor of rectum, well differentiated, low or intermediate g def: "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the rectum." [NCIT:C135213] subset: ordo_disease {source="Orphanet:100081"} synonym: "neuroendocrine tumor of the rectum" RELATED [Orphanet:100081] +synonym: "neuroendocrine tumour of the rectum" RELATED OMO:0003005 [] synonym: "rectal neuroendocrine tumor" EXACT [NCIT:C135213, Orphanet:100081] +synonym: "rectal neuroendocrine tumour" EXACT OMO:0003005 [] xref: NCIT:C135213 {source="MONDO:equivalentTo"} xref: UMLS:CN197361 {source="MONDO:equivalentTo"} is_a: MONDO:0002883 {source="MONDO:Redundant", source="NCIT:C135213/inferred"} ! intestinal neuroendocrine neoplasm @@ -297186,14 +301089,18 @@ subset: ordo_disease {source="Orphanet:100082"} synonym: "anal canal NET" EXACT [NCIT:C96540] synonym: "anal canal neuroendocrine neoplasm" BROAD [MONDO:patterns/location] synonym: "anal canal neuroendocrine tumor" EXACT [NCIT:C96540] +synonym: "anal canal neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "anal canal well differentiated tumor" EXACT [NCIT:C96540] synonym: "anal canal well differentiated tumor/carcinoma" EXACT [NCIT:C96540] +synonym: "anal canal well differentiated tumour" EXACT OMO:0003005 [] synonym: "anal NET" EXACT [NCIT:C96540] synonym: "anal Neuroendocrine tumor" EXACT [NCIT:C96540] +synonym: "anal Neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "NET of anal canal" EXACT [Orphanet:100082] synonym: "NET of the anal canal" EXACT [Orphanet:100082] synonym: "neuroendocrine neoplasm of the anal canal" EXACT [Orphanet:100082] synonym: "neuroendocrine tumor of anal canal" RELATED [Orphanet:100082] +synonym: "neuroendocrine tumour of anal canal" RELATED OMO:0003005 [] xref: NCIT:C96540 {source="MONDO:equivalentTo"} xref: Orphanet:100082 {source="MONDO:equivalentTo"} xref: UMLS:C3272849 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C96540"} @@ -297212,13 +301119,16 @@ def: "A benign or malignant neoplasm with neuroendocrine differentiation that ar subset: ordo_disease {source="Orphanet:100083"} synonym: "laryngeal neuroendocrine neoplasm" EXACT [NCIT:C6023] synonym: "laryngeal neuroendocrine tumor" RELATED [DOID:5457] +synonym: "laryngeal neuroendocrine tumour" RELATED OMO:0003005 [] synonym: "larynx NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "larynx neuroendocrine neoplasm" EXACT [MONDO:patterns/location, NCIT:C6023] synonym: "larynx neuroendocrine tumor" EXACT [MONDO:patterns/location, MONDO:patterns/neuroendocrine_neoplasm] synonym: "larynx neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm] +synonym: "larynx neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "neuroendocrine neoplasm of larynx" EXACT [MONDO:patterns/neuroendocrine_neoplasm, NCIT:C6023] synonym: "neuroendocrine neoplasm of the larynx" EXACT [NCIT:C6023] synonym: "neuroendocrine tumor of larynx" EXACT [DOID:5457, NCIT:C6023] +synonym: "neuroendocrine tumour of larynx" EXACT OMO:0003005 [] xref: DOID:5457 {source="MONDO:equivalentTo"} xref: NCIT:C6023 {source="DOID:5457", source="MONDO:equivalentTo"} xref: Orphanet:100083 {source="MONDO:equivalentTo"} @@ -297242,6 +301152,7 @@ synonym: "middle ear neuroendocrine tumor" EXACT [MONDO:patterns/neuroendocrine_ synonym: "middle ear neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "neuroendocrine neoplasm of middle ear" EXACT [MONDO:design_pattern, MONDO:patterns/neuroendocrine_neoplasm] synonym: "neuroendocrine tumor of middle ear" EXACT [] +synonym: "neuroendocrine tumour of middle ear" EXACT OMO:0003005 [] xref: Orphanet:100084 {source="MONDO:equivalentTo"} xref: SCTID:717918002 {source="MONDO:equivalentTo"} xref: UMLS:C4305468 {source="MONDO:equivalentTo"} @@ -297281,8 +301192,10 @@ def: "A well differentiated, low or intermediate grade tumor with neuroendocrine subset: ordo_disease {source="Orphanet:100086"} synonym: "gallbladder NET" EXACT [NCIT:C96918] synonym: "gallbladder neuroendocrine tumor" EXACT [NCIT:C96918] +synonym: "gallbladder neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "gallbladder well differentiated endocrine tumor" EXACT [NCIT:C96918] synonym: "gallbladder well differentiated endocrine tumor/carcinoma" EXACT [NCIT:C96918] +synonym: "gallbladder well differentiated endocrine tumour" EXACT OMO:0003005 [] xref: ICD10CM:C23 {source="Orphanet:100086/ntbt", source="Orphanet:100086"} xref: NCIT:C96918 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: Orphanet:100086 {source="MONDO:equivalentTo"} @@ -297311,6 +301224,7 @@ synonym: "THYROID" RELATED ABBREVIATION [ONCOTREE:THYROID] synonym: "thyroid gland neoplasm" EXACT [NCIT:C3414] synonym: "thyroid gland neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "thyroid gland tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3414] +synonym: "thyroid gland tumour" EXACT OMO:0003005 [] synonym: "thyroid neoplasm" EXACT [NCIT:C3414] synonym: "thyroid neoplasms" EXACT [NCIT:C3414] synonym: "thyroid tumor" EXACT [NCIT:C3414] @@ -297318,6 +301232,10 @@ synonym: "tumor of the thyroid" EXACT [NCIT:C3414] synonym: "tumor of the thyroid gland" EXACT [NCIT:C3414] synonym: "tumor of thyroid" EXACT [NCIT:C3414] synonym: "tumor of thyroid gland" EXACT [MONDO:patterns/neoplasm, NCIT:C3414] +synonym: "tumour of the thyroid" EXACT OMO:0003005 [] +synonym: "tumour of the thyroid gland" EXACT OMO:0003005 [] +synonym: "tumour of thyroid" EXACT OMO:0003005 [] +synonym: "tumour of thyroid gland" EXACT OMO:0003005 [] xref: EFO:0003841 {source="MONDO:equivalentTo"} xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C12400 {source="ONCOTREE:THYROID"} @@ -299096,6 +303014,10 @@ synonym: "familial non-immune hydrops fetalis" RELATED [GARD:0002783] synonym: "fetal anasarca" EXACT [Orphanet:1041] synonym: "fetal edema" RELATED [GARD:0002301] synonym: "fetal hydrops" EXACT [Orphanet:1041] +synonym: "foetal anasarca" EXACT OMO:0003005 [] +synonym: "foetal hydrops" EXACT OMO:0003005 [] +synonym: "foetal oedema" RELATED OMO:0003005 [] +synonym: "generalised foetal oedema" EXACT OMO:0003005 [] synonym: "generalized fetal edema" EXACT [Orphanet:1041] synonym: "HF" EXACT ABBREVIATION [Orphanet:1041] synonym: "hydrops fetalis" EXACT [MONDO:ambiguous] @@ -299121,6 +303043,7 @@ name: sideroblastic anemia def: "A group of rare heterogeneous inherited or acquired bone marrow disorders, isolated or part of a syndrome, characterized by decreased hemoglobin synthesis, because of defective use of iron (although plasmatic iron levels may be normal or elevated) and the presence of ringed sideroblasts in the bone marrow due to the pathologic iron overload in mitochondria as visualized by Perls' staining. The group encompasses (idiopathic) acquired sideroblastic anemia and constitutional sideroblastic anemias. The latter include syndromic sideroblastic anemias such as Pearson syndrome, mitochondrial mypathy and sideroblastic anemias, x-linked sideroblastic anemia-ataxia, thiamine responsive megaloblastic anemia syndrome and nonsyndromic sideroblastic anemias comprising x-linked and autosomal recessive sideroblastic anemias." [Orphanet:1047] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:1047"} +synonym: "anaemia sideroblastic" EXACT OMO:0003005 [] synonym: "anemia sideroblastic" EXACT [DOID:8955, MTH:NOCODE] synonym: "anemia, hypochromic with iron loading" EXACT [DOID:8955] synonym: "sideroblastic anemia" EXACT [MONDO:0004688] @@ -300154,14 +304077,20 @@ subset: clingen subset: ordo_disease {source="Orphanet:124"} synonym: "Aase syndrome" EXACT [Orphanet:124] synonym: "Aase-Smith II syndrome" EXACT [Orphanet:124] +synonym: "anaemia congenital erythroid hypoplastic" RELATED OMO:0003005 [] +synonym: "anaemia Diamond Blackfan type" RELATED OMO:0003005 [] synonym: "anemia congenital erythroid hypoplastic" RELATED [GARD:0006274] synonym: "anemia Diamond Blackfan type" RELATED [GARD:0006274] +synonym: "aregenerative anaemia chronic congenital" RELATED OMO:0003005 [] synonym: "aregenerative anemia chronic congenital" RELATED [GARD:0006274] synonym: "BDS" RELATED ABBREVIATION [GARD:0006274] synonym: "Blackfan - Diamond syndrome" EXACT [DOID:1339] synonym: "Blackfan Diamond syndrome" RELATED [GARD:0006274] +synonym: "Blackfan-Diamond anaemia" EXACT OMO:0003005 [] synonym: "Blackfan-Diamond anemia" EXACT [NCIT:C61236] +synonym: "chronic constitutional pure red cell anaemia" EXACT OMO:0003005 [] synonym: "chronic constitutional pure red cell anemia" EXACT [DOID:1339] +synonym: "congenital hypoplastic anaemia" EXACT OMO:0003005 [] synonym: "congenital hypoplastic anemia" EXACT [NCIT:C61236] synonym: "congenital hypoplastic anemia, Blackfan-Diamond type" EXACT [Orphanet:124] synonym: "congenital PRCA" EXACT [Orphanet:124] @@ -300397,13 +304326,18 @@ def: "Cryptogenic organizing pneumonia (COP) is a form of idiopathic interstitia subset: gard_rare subset: ordo_disease {source="Orphanet:1302"} synonym: "BOOP" RELATED EXCLUDE [DOID:0050157, GARD:0005961] +synonym: "bronchiolitis obliterans organising pneumonia" EXACT OMO:0003005 [] synonym: "bronchiolitis obliterans organizing pneumonia" EXACT [DOID:0050157, Orphanet:1302] synonym: "constrictive bronchiolitis" RELATED [GARD:0005961] synonym: "COP" EXACT ABBREVIATION [https://orcid.org/0000-0003-0113-912X, Orphanet:1302] +synonym: "cryptogenic organising pneumonitis" EXACT OMO:0003005 [] synonym: "cryptogenic organizing pneumonitis" EXACT [DOID:0050157, https://orcid.org/0000-0003-0113-912X] synonym: "idiopathic BOOP" RELATED [GARD:0001620] +synonym: "idiopathic bronchiolitis obliterans organising pneumonia" RELATED OMO:0003005 [] synonym: "idiopathic bronchiolitis obliterans organizing pneumonia" RELATED [GARD:0001620] +synonym: "idiopathic bronchiolitis obliterans with organising pneumonia" EXACT OMO:0003005 [] synonym: "idiopathic bronchiolitis obliterans with organizing pneumonia" EXACT [DOID:0050157] +synonym: "organising pneumonia" EXACT OMO:0003005 [] synonym: "organizing pneumonia" EXACT [GARD:0005961] xref: DOID:0050157 {source="MONDO:equivalentTo"} xref: EFO:1001300 {source="MONDO:equivalentTo"} @@ -300440,6 +304374,8 @@ synonym: "bronchiolitis obliterans" RELATED [MONDO:ambiguous] synonym: "bronchiolitis obliterans with obstructive pulmonary disease" NARROW [Orphanet:1303] synonym: "constrictive bronchiolitis" EXACT [Orphanet:1303] synonym: "obliterative bronchiolitis" RELATED [DOID:2799, Orphanet:1303] +synonym: "organised pneumonia" EXACT OMO:0003005 [] +synonym: "organising pneumonia" RELATED OMO:0003005 [] synonym: "organized pneumonia" EXACT [] synonym: "organizing pneumonia" RELATED [GARD:0005961] xref: DOID:2799 {source="MONDO:equivalentTo", source="EFO:0007183"} @@ -300475,6 +304411,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:1305"} synonym: "Brunner-Winter syndrome" EXACT [Orphanet:1305] synonym: "digital anomalies with short palpebral fissures and atresia of esophagus or duodenum" EXACT [DOID:0060464, Orphanet:1305] synonym: "digital anomalies with short palpebral fissures and atresia of esophagus, or duodenum" RELATED [GARD:0008407] +synonym: "digital anomalies with short palpebral fissures and atresia of oesophagus or duodenum" EXACT OMO:0003005 [] synonym: "FGLDS" EXACT ABBREVIATION [DOID:0060464, Orphanet:1305] synonym: "FS" EXACT ABBREVIATION [Orphanet:1305] synonym: "microcephaly-digital anomalies-normal intelligence syndrome" EXACT [DOID:0060464, Orphanet:1305] @@ -300714,6 +304651,7 @@ synonym: "thyroid gland medullary carcinoma" EXACT [MONDO:0002823, NCIT:C3879] synonym: "thyroid gland neuroendocrine carcinoma" EXACT [NCIT:C3879] synonym: "thyroid medullary carcinoma" EXACT [NCIT:C3879] synonym: "ultimobranchial thyroid tumor" EXACT [DOID:3973] +synonym: "ultimobranchial thyroid tumour" EXACT OMO:0003005 [] xref: DOID:3973 {source="MONDO:equivalentTo"} xref: HP:0002865 {source="MONDO:otherHierarchy"} xref: ICD10CM:C73 {source="Orphanet:1332", source="Orphanet:1332/ntbt"} @@ -301175,11 +305113,14 @@ subset: gard_rare subset: ordo_group_of_disorders {source="Orphanet:137807"} synonym: "amyloidosis familial cutaneous lichen" RELATED [GARD:0000132] synonym: "amyloidosis IX" RELATED [GARD:0000132] +synonym: "amyloidosis, primary localised cutaneous" RELATED OMO:0003005 [] synonym: "amyloidosis, primary localized cutaneous" RELATED [OMIMPS:105250] +synonym: "familial primary localised cutaneous amyloidosis" NARROW OMO:0003005 [] synonym: "familial primary localized cutaneous amyloidosis" NARROW [DOID:0050639] synonym: "lichen amyloidosis familial" RELATED [GARD:0000132] synonym: "PCA" RELATED EXCLUDE [DOID:0050639, GARD:0000132] synonym: "PLCA" NARROW ABBREVIATION [Orphanet:137807] +synonym: "primary localised cutaneous amyloidosis" EXACT OMO:0003005 [] synonym: "primary localized cutaneous amyloidosis" EXACT [Orphanet:137807] xref: DOID:0050639 {source="MONDO:equivalentTo"} xref: ICD10EXP:E85.4+ {source="Orphanet:137807/e", source="Orphanet:137807"} @@ -301200,9 +305141,11 @@ def: "Primary localized cutaneous nodular amyloidosis (PLCNA) is the most rare f subset: gard_rare {source="GARD:0010562"} subset: ordo_disease {source="Orphanet:137810"} synonym: "amyloidosis cutis nodularis atrophicans" RELATED [GARD:0010562] +synonym: "amyloidosis nodular localised cutaneous" EXACT OMO:0003005 [] synonym: "amyloidosis nodular localized cutaneous" EXACT [MONDO:0022446] synonym: "NLCA" RELATED ABBREVIATION [GARD:0010562] synonym: "PLCNA" EXACT ABBREVIATION [Orphanet:137810] +synonym: "primary localised cutaneous nodular amyloidosis" EXACT OMO:0003005 [] synonym: "primary localized cutaneous nodular amyloidosis" EXACT [Orphanet:137810] xref: ICD10EXP:E85.4+ {source="Orphanet:137810/ntbt", source="Orphanet:137810"} xref: ICD10EXP:L99.0* {source="Orphanet:137810/ntbt", source="Orphanet:137810"} @@ -302012,11 +305955,13 @@ synonym: "cancer syndrome, hereditary" EXACT [MESH:D009386] synonym: "cancer syndromes, hereditary" EXACT [MESH:D009386] synonym: "familial neoplastic syndrome" EXACT [NCIT:C3266] synonym: "familial tumor syndrome" EXACT [NCIT:C3266] +synonym: "familial tumour syndrome" EXACT OMO:0003005 [] synonym: "hereditary cancer syndrome" EXACT [MESH:D009386] synonym: "hereditary cancer syndromes" EXACT [MESH:D009386] synonym: "hereditary neoplastic syndrome" EXACT [MESH:D009386, MONDO:patterns/hereditary, NCIT:C3266] synonym: "hereditary neoplastic syndromes" EXACT [MESH:D009386] synonym: "hereditary tumor syndrome" EXACT [NCIT:C3266] +synonym: "hereditary tumour syndrome" EXACT OMO:0003005 [] synonym: "inherited cancer syndrome" EXACT [NCIT:C3266] synonym: "inherited cancer-predisposing syndrome" EXACT [Orphanet:140162] synonym: "neoplastic syndrome, hereditary" EXACT [MESH:D009386] @@ -302838,6 +306783,7 @@ synonym: "diffuse lymphangiomatosis" EXACT [Orphanet:141209] synonym: "disseminated lymphangioma" EXACT [Orphanet:141209] synonym: "disseminated lymphangiomatosis" EXACT [Orphanet:141209] synonym: "disseminated lymphatic malformation" EXACT [Orphanet:141209] +synonym: "generalised lymphatic anomaly" EXACT OMO:0003005 [] synonym: "generalized lymphatic anomaly" EXACT [Orphanet:141209] synonym: "Gla" EXACT [Orphanet:141209] xref: DOID:0081031 {source="MONDO:equivalentTo"} @@ -303740,6 +307686,7 @@ synonym: "cancer of the nasopharynx" BROAD [NCIT:C3871] synonym: "carcinoma of nasopharynx" EXACT [DOID:9261, MONDO:patterns/carcinoma, NCIT:C3871] synonym: "carcinoma of the nasopharynx" EXACT [NCIT:C3871] synonym: "malignant nasopharyngeal tumor" BROAD [DOID:9261, NCIT:C9321] +synonym: "malignant nasopharyngeal tumour" BROAD OMO:0003005 [] synonym: "malignant neoplasm of anterior wall of nasopharynx" BROAD [DOID:9261] synonym: "malignant neoplasm of lateral wall of nasopharynx" BROAD [DOID:9261] synonym: "malignant neoplasm of nasopharyngeal wall" BROAD [DOID:9261] @@ -303753,6 +307700,9 @@ synonym: "malignant neoplasm of superior wall of nasopharynx" BROAD [DOID:9261] synonym: "malignant tumor of anterior wall of nasopharynx" BROAD [DOID:9261, MTH:U001027] synonym: "malignant tumor of lateral wall of nasopharynx" BROAD [DOID:9261, MTH:U003238] synonym: "malignant tumor of posterior wall of nasopharynx" BROAD [DOID:9261, MTH:U001026] +synonym: "malignant tumour of anterior wall of nasopharynx" BROAD OMO:0003005 [] +synonym: "malignant tumour of lateral wall of nasopharynx" BROAD OMO:0003005 [] +synonym: "malignant tumour of posterior wall of nasopharynx" BROAD OMO:0003005 [] synonym: "nasopharyngeal cancer" BROAD [NCIT:C3871] synonym: "nasopharyngeal carcinoma" EXACT [DOID:9261, NCIT:C3871] synonym: "nasopharyngeal throat cancer" BROAD [NCIT:C3871] @@ -304881,9 +308831,13 @@ subset: ordo_disease {source="Orphanet:157826"} synonym: "congenital Epulides" EXACT [DOID:7280] synonym: "congenital epulis" EXACT [DOID:7280, NCIT:C4675] synonym: "congenital gingival cell tumor" EXACT [Orphanet:157826] +synonym: "congenital gingival cell tumour" EXACT OMO:0003005 [] synonym: "congenital granular cell tumor" RELATED [NCIT:C4675, Orphanet:157826] +synonym: "congenital granular cell tumour" RELATED OMO:0003005 [] synonym: "gingival granular cell tumor" RELATED [NCIT:C4675] +synonym: "gingival granular cell tumour" RELATED OMO:0003005 [] synonym: "Neumann tumor" EXACT [Orphanet:157826] +synonym: "Neumann tumour" EXACT OMO:0003005 [] xref: DOID:7280 {source="MONDO:equivalentTo"} xref: MESH:D005887 {source="MONDO:equivalentTo", source="DOID:7280"} xref: NCIT:C4675 {source="MONDO:equivalentTo", source="DOID:7280"} @@ -304957,6 +308911,7 @@ relationship: excluded_subClassOf MONDO:0017368 {source="Orphanet:157987"} ! obs id: MONDO:0015532 name: generalized eruptive histiocytosis subset: ordo_disease {source="Orphanet:157991"} +synonym: "generalised eruptive histiocytoma" EXACT OMO:0003005 [] synonym: "generalized eruptive histiocytoma" EXACT [Orphanet:157991] xref: ICD10CM:D76.3 {source="Orphanet:157991", source="Orphanet:157991/ntbt"} xref: Orphanet:157991 {source="MONDO:equivalentTo"} @@ -305049,6 +309004,7 @@ synonym: "IDCT" RELATED ABBREVIATION [ONCOTREE:IDCT] synonym: "indeterminate cell histiocytosis" EXACT [NCIT:C81767] synonym: "indeterminate Dendritic cell tumor" EXACT [NCIT:C81767] synonym: "indeterminate dendritic cell tumor" EXACT [Orphanet:158019] +synonym: "indeterminate Dendritic cell tumour" EXACT OMO:0003005 [] xref: ICD10CM:D76.3 {source="Orphanet:158019", source="Orphanet:158019/ntbt"} xref: NCIT:C81767 {source="MONDO:equivalentTo"} xref: ONCOTREE:IDCT {source="MONDO:equivalentTo"} @@ -305414,6 +309370,7 @@ synonym: "angiofollicular lymphoid hyperplasia" EXACT [NCIT:C3056] synonym: "Castleman disease" EXACT [NCIT:C3056] synonym: "Castleman's disease" EXACT [NCIT:C3056] synonym: "Castleman's tumor" EXACT [NCIT:C3056] +synonym: "Castleman's tumour" EXACT OMO:0003005 [] synonym: "giant lymph node hyperplasia" EXACT [DOID:0111157, NCIT:C3056] synonym: "GLNH" EXACT ABBREVIATION [NCIT:C3056] synonym: "lymphoid hamartoma" EXACT [DOID:0111157] @@ -305656,6 +309613,7 @@ def: "Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia and subset: ordo_clinical_subtype {source="Orphanet:163596"} synonym: "Alpha-thalassemia hydrops fetalis" EXACT [Orphanet:163596] synonym: "Alpha-thalassemia major" EXACT [Orphanet:163596] +synonym: "Haemoglobin Bart's hydrops fetalis" EXACT OMO:0003005 [] synonym: "Hemoglobin Bart's hydrops fetalis" EXACT [Orphanet:163596] synonym: "homozygous alpha0-thalassemia" EXACT [Orphanet:163596] xref: ICD10CM:D56.0 {source="Orphanet:163596", source="Orphanet:163596/attributed", source="Orphanet:163596/ntbt"} @@ -305907,6 +309865,7 @@ id: MONDO:0015597 name: pustulosis palmaris et plantaris subset: ordo_disease {source="Orphanet:163927"} synonym: "acropustulosis" EXACT [DOID:4398] +synonym: "localised pustular psoriasis" EXACT OMO:0003005 [] synonym: "localized pustular psoriasis" EXACT [Orphanet:163927] synonym: "LPP" EXACT ABBREVIATION [Orphanet:163927] synonym: "palmoplantar pustulosis" EXACT [DOID:4398, NCIT:C34888, Orphanet:163927] @@ -306121,6 +310080,7 @@ def: "An instance of aplastic anemia that is acquired during the lifetime of the subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:164823"} synonym: "acquired aplastic anemia" EXACT [MONDO:patterns/acquired] +synonym: "rare acquired aplastic anaemia" RELATED OMO:0003005 [] synonym: "rare acquired aplastic anemia" RELATED [Orphanet:164823] xref: EFO:0006926 {source="MONDO:equivalentTo"} xref: ICD10CM:D61.1 {source="Orphanet:164823/btnt", source="Orphanet:164823"} @@ -306936,6 +310896,9 @@ def: "Scleromyxedema is a rare, severe skin disorder. Signs and symptoms include subset: gard_rare {source="GARD:0007615"} subset: ordo_disease {source="Orphanet:167635"} synonym: "Arndt-Gottron disease" EXACT [Orphanet:167635] +synonym: "generalised lichenoid papular eruption" EXACT OMO:0003005 [] +synonym: "generalised papular and sclerodermoid" RELATED OMO:0003005 [] +synonym: "generalised papular and sclerodermoid lichen myxedematosus" EXACT OMO:0003005 [] synonym: "generalized lichenoid papular eruption" EXACT [Orphanet:167635] synonym: "generalized papular and sclerodermoid" RELATED [GARD:0007615] synonym: "generalized papular and sclerodermoid lichen myxedematosus" EXACT [Orphanet:167635] @@ -306983,12 +310946,17 @@ def: "Acute myeloid leukemias that do not fulfill the criteria for inclusion in subset: disease_grouping subset: gard_rare {source="GARD:0012760"} subset: ordo_group_of_disorders {source="Orphanet:167714"} +synonym: "acute myeloid leukaemia" BROAD OMO:0003005 [] +synonym: "acute myeloid leukaemia NOS" EXACT OMO:0003005 [] +synonym: "acute myeloid leukaemia not otherwise categorised" EXACT OMO:0003005 [] +synonym: "acute myeloid leukaemia not otherwise specified" EXACT OMO:0003005 [] synonym: "acute myeloid leukemia" BROAD [NCIT:C27753] synonym: "acute myeloid leukemia NOS" EXACT [NCIT:C27753] synonym: "acute myeloid leukemia not otherwise categorized" EXACT [NCIT:C27753] synonym: "acute myeloid leukemia not otherwise specified" EXACT [NCIT:C27753] synonym: "acute myeloid leukemia, NOS" EXACT [NCIT:C27753] synonym: "AML, NOS" EXACT [NCIT:C27753] +synonym: "unclassified acute myeloid leukaemia" EXACT OMO:0003005 [] synonym: "unclassified acute myeloid leukemia" EXACT [Orphanet:167714] synonym: "unclassified AML" EXACT [Orphanet:167714] xref: NCIT:C27753 {source="MONDO:equivalentTo"} @@ -307277,6 +311245,7 @@ synonym: "chronic eosinophilic leukemia" EXACT [NCIT:C4563] synonym: "chronic eosinophilic leukemia, NOS" RELATED EXCLUDE [NCIT:C4563] synonym: "chronic eosinophilic leukemia, not otherwise specified" RELATED EXCLUDE [NCIT:C4563] synonym: "chronic eosinophilic leukemia/hypereosinophilic syndrome" EXACT [NCIT:C4563] +synonym: "eosinophilic leukaemia" EXACT OMO:0003005 [] synonym: "eosinophilic leukemia" EXACT [NCIT:C4563] xref: DOID:0080367 {source="MONDO:equivalentTo"} xref: EFO:1000178 {source="MONDO:equivalentTo"} @@ -307706,6 +311675,7 @@ name: severe hemophilia B def: "Severe hemophilia B is a form of hemophilia B characterized by a large deficiency of factor IX leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." [Orphanet:169793] subset: ordo_clinical_subtype {source="Orphanet:169793"} synonym: "severe factor IX deficiency" EXACT [Orphanet:169793] +synonym: "severe haemophilia type B" EXACT OMO:0003005 [] synonym: "severe hemophilia type B" EXACT [MONDORULE:1, Orphanet:169793] xref: ICD10CM:D67 {source="Orphanet:169793/attributed", source="Orphanet:169793/ntbt", source="Orphanet:169793"} xref: Orphanet:169793 {source="MONDO:equivalentTo"} @@ -307718,6 +311688,7 @@ name: moderately severe hemophilia B def: "Moderately severe hemophilia B is a form of hemophilia B characterized by factor IX deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." [Orphanet:169796] subset: ordo_clinical_subtype {source="Orphanet:169796"} synonym: "moderately severe factor IX deficiency" EXACT [Orphanet:169796] +synonym: "moderately severe haemophilia type B" EXACT OMO:0003005 [] synonym: "moderately severe hemophilia type B" EXACT [MONDORULE:1, Orphanet:169796] xref: ICD10CM:D67 {source="Orphanet:169796/attributed", source="Orphanet:169796/ntbt", source="Orphanet:169796"} xref: Orphanet:169796 {source="MONDO:equivalentTo"} @@ -307730,6 +311701,7 @@ name: mild hemophilia B def: "Mild hemophilia B is a form of hemophilia B characterized by a small deficiency of factor IX leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." [Orphanet:169799] subset: ordo_clinical_subtype {source="Orphanet:169799"} synonym: "mild factor IX deficiency" EXACT [Orphanet:169799] +synonym: "mild haemophilia type B" EXACT OMO:0003005 [] synonym: "mild hemophilia type B" EXACT [MONDORULE:1, Orphanet:169799] xref: ICD10CM:D67 {source="Orphanet:169799/attributed", source="Orphanet:169799/ntbt", source="Orphanet:169799"} xref: Orphanet:169799 {source="MONDO:equivalentTo"} @@ -307760,6 +311732,7 @@ name: severe hemophilia A def: "Severe hemophilia A is a form of hemophilia A characterized by a large deficiency of factor VIII leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." [Orphanet:169802] subset: ordo_clinical_subtype {source="Orphanet:169802"} synonym: "severe factor VIII deficiency" EXACT [Orphanet:169802] +synonym: "severe haemophilia type A" EXACT OMO:0003005 [] synonym: "severe hemophilia type A" EXACT [MONDORULE:1, Orphanet:169802] xref: ICD10CM:D66 {source="Orphanet:169802", source="Orphanet:169802/attributed", source="Orphanet:169802/ntbt"} xref: Orphanet:169802 {source="MONDO:equivalentTo"} @@ -307773,6 +311746,7 @@ name: moderately severe hemophilia A def: "Moderately severe hemophilia A is a form of hemophilia A characterized by factor VIII deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." [Orphanet:169805] subset: ordo_clinical_subtype {source="Orphanet:169805"} synonym: "moderately severe factor VIII deficiency" EXACT [Orphanet:169805] +synonym: "moderately severe haemophilia type A" EXACT OMO:0003005 [] synonym: "moderately severe hemophilia type A" EXACT [MONDORULE:1, Orphanet:169805] xref: ICD10CM:D66 {source="Orphanet:169805", source="Orphanet:169805/attributed", source="Orphanet:169805/ntbt"} xref: Orphanet:169805 {source="MONDO:equivalentTo"} @@ -307785,6 +311759,7 @@ name: mild hemophilia A def: "Mild hemophilia A is a form of hemophilia A characterized by a small deficiency of factor VIII leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction." [Orphanet:169808] subset: ordo_clinical_subtype {source="Orphanet:169808"} synonym: "mild factor VIII deficiency" EXACT [Orphanet:169808] +synonym: "mild haemophilia type A" EXACT OMO:0003005 [] synonym: "mild hemophilia type A" EXACT [MONDORULE:1, Orphanet:169808] xref: ICD10CM:D66 {source="Orphanet:169808/attributed", source="Orphanet:169808/ntbt", source="Orphanet:169808"} xref: Orphanet:169808 {source="MONDO:equivalentTo"} @@ -309157,6 +313132,7 @@ def: "A botulism that occurs between 28 days to one year of life.." [MONDO:patte subset: ordo_clinical_subtype {source="Orphanet:178478"} synonym: "botulism of infancy" EXACT [MONDO:patterns/infantile] synonym: "infant intestinal botulism" EXACT [Orphanet:178478] +synonym: "infant intestinal toxaemia botulism" EXACT OMO:0003005 [] synonym: "infant intestinal toxemia botulism" EXACT [Orphanet:178478] synonym: "infant intestinal toxin-mediated botulism" EXACT [Orphanet:178478] synonym: "infantile botulism" EXACT [Orphanet:178478] @@ -309182,7 +313158,9 @@ id: MONDO:0015805 name: intestinal botulism def: "A rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia. The disease affects infants (infant botulism) and very rarely adults (adult intestinal botulism)." [Orphanet:178481] subset: ordo_clinical_subtype {source="Orphanet:178481"} +synonym: "intestinal colonisation botulism" EXACT OMO:0003005 [] synonym: "intestinal colonization botulism" EXACT [Orphanet:178481] +synonym: "intestinal toxaemia botulism" EXACT OMO:0003005 [] synonym: "intestinal toxemia botulism" EXACT [Orphanet:178481] synonym: "intestinal toxin-mediated botulism" EXACT [Orphanet:178481] xref: DOID:0050141 {source="MONDO:equivalentTo"} @@ -309198,7 +313176,9 @@ id: MONDO:0015806 name: adult intestinal botulism def: "A very rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia." [Orphanet:178487] subset: ordo_clinical_subtype {source="Orphanet:178487"} +synonym: "adult intestinal colonisation botulism" EXACT OMO:0003005 [] synonym: "adult intestinal colonization botulism" EXACT [Orphanet:178487] +synonym: "adult intestinal toxaemia botulism" EXACT OMO:0003005 [] synonym: "adult intestinal toxemia botulism" EXACT [Orphanet:178487] synonym: "adult intestinal toxin-mediated botulism" EXACT [Orphanet:178487] synonym: "infant-like botulism" EXACT [Orphanet:178487] @@ -309250,6 +313230,7 @@ id: MONDO:0015809 name: localized pagetoid reticulosis def: "A variant of mycosis fungoides, characterized by an exclusively intraepidermal atypical (cerebriform) lymphocytic infiltrate. Patients present with a localized psoriasiform or hyperkeratotic patch or plaque, usually in the extremities. Extracutaneous dissemination of the disease has never been reported." [NCIT:C35794] subset: ordo_disease {source="Orphanet:178517"} +synonym: "localised reticulosis" EXACT OMO:0003005 [] synonym: "localized reticulosis" EXACT [] synonym: "pagetoid reticulosis" EXACT [NCIT:C35794] synonym: "pagetoid reticulosis, Woringer-Kolopp type" EXACT [Orphanet:178517] @@ -309322,6 +313303,7 @@ def: "A primary lymphoma of the skin composed of various numbers of small and la subset: ordo_disease {source="Orphanet:178540"} synonym: "Crosti's disease" EXACT [NCIT:C7217] synonym: "cutaneous follicle center lymphoma" EXACT [NCIT:C7217] +synonym: "cutaneous follicle centre lymphoma" EXACT OMO:0003005 [] synonym: "PCFCL" EXACT ABBREVIATION [ONCOTREE:PCFCL, Orphanet:178540] synonym: "Reticulohistiocytoma of the dorsum" EXACT [NCIT:C7217] xref: ICD10CM:C82.6 {source="Orphanet:178540", source="Orphanet:178540/e"} @@ -309952,10 +313934,10 @@ def: "A malignant germ cell tumor characterized by the presence of at least two subset: ordo_disease {source="Orphanet:180234"} synonym: "combined germ cell neoplasm" EXACT [NCIT:C4290] synonym: "combined germ cell tumor" EXACT [NCIT:C4290] +synonym: "combined germ cell tumour" EXACT OMO:0003005 [] synonym: "mixed germ cell cancer" EXACT [MONDO:0002600] synonym: "mixed germ cell neoplasm" EXACT [NCIT:C4290] -synonym: "mixed germ cell tumor" EXACT [DOID:3306] -synonym: "mixed germ cell tumor" EXACT [NCIT:C4290] +synonym: "mixed germ cell tumor" EXACT [DOID:3306, NCIT:C4290] synonym: "mixed teratoma and seminoma" RELATED EXCLUDE [DOID:3306] xref: DOID:3306 {source="MONDO:equivalentTo"} xref: ICDO:9085/3 {source="NCIT:C4290"} @@ -309996,6 +313978,7 @@ synonym: "vaginal cancer" BROAD [NCIT:C3917] synonym: "vaginal cancer, NOS" BROAD [NCIT:C3917] synonym: "vaginal carcinoma" EXACT [NCIT:C3917] synonym: "vaginal malignant epithelial tumor" BROAD [Orphanet:180247] +synonym: "vaginal malignant epithelial tumour" BROAD OMO:0003005 [] xref: DOID:0050918 {source="MONDO:equivalentTo"} xref: ICD10CM:C52 {source="Orphanet:180247/ntbt", source="Orphanet:180247"} xref: NCIT:C3917 {source="MONDO:equivalentTo"} @@ -310061,6 +314044,8 @@ synonym: "benign phyllodes neoplasm of breast" EXACT [NCIT:C5196] synonym: "benign phyllodes neoplasm of the breast" EXACT [DOID:1631, NCIT:C5196] synonym: "benign phyllodes tumor of breast" EXACT [NCIT:C5196] synonym: "benign phyllodes tumor of the breast" EXACT [NCIT:C5196] +synonym: "benign phyllodes tumour of breast" EXACT OMO:0003005 [] +synonym: "benign phyllodes tumour of the breast" EXACT OMO:0003005 [] synonym: "BPT" RELATED ABBREVIATION [ONCOTREE:BPT] synonym: "breast benign phyllodes neoplasm" EXACT [NCIT:C5196] synonym: "breast phyllodes tumor, benign" EXACT [MONDO:patterns/benign] @@ -310072,10 +314057,12 @@ synonym: "cystosarcoma phyllodes, NOS" RELATED EXCLUDE [DOID:1631] synonym: "cystosarcoma phylloide" RELATED [Orphanet:180261] synonym: "cystosarcoma phylloide of the breast" EXACT [Orphanet:180261] synonym: "phyllode tumor of the breast" RELATED [Orphanet:180261] +synonym: "phyllode tumour of the breast" RELATED OMO:0003005 [] synonym: "phyllodes neoplasm" BROAD [DOID:1631, NCIT:C2977] synonym: "phyllodes tumor, benign" RELATED EXCLUDE [DOID:1631] synonym: "phyllodes tumor, benign (morphologic abnormality)" BROAD [DOID:1631] synonym: "phylloide tumor of the breast" EXACT [Orphanet:180261] +synonym: "phylloide tumour of the breast" EXACT OMO:0003005 [] xref: DOID:1631 {source="MONDO:equivalentTo"} xref: ICD10CM:D48.6 {source="DOID:1631", source="Orphanet:180261", source="Orphanet:180261/ntbt"} xref: MedDRA:10011813 {source="Orphanet:180261", source="Orphanet:180261/e"} @@ -310595,7 +314582,9 @@ name: syndromic dyslipidemia def: "A inherited lipid metabolism disorder that is part of a larger syndrome." [MONDO:patterns/syndromic] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:181437"} +synonym: "complex dyslipidaemia" EXACT OMO:0003005 [] synonym: "complex dyslipidemia" EXACT [] +synonym: "rare syndromic dyslipidaemia" RELATED OMO:0003005 [] synonym: "rare syndromic dyslipidemia" RELATED [Orphanet:181437] synonym: "syndrome associated with inherited lipid metabolism disorder" EXACT [MONDO:patterns/syndromic] synonym: "syndromic inherited lipid metabolism disorder" EXACT [MONDO:patterns/syndromic] @@ -310744,6 +314733,7 @@ synonym: "Alport syndrome with macrothrombocytopenia" RELATED [OMIM:153640] synonym: "Alport syndrome with macrothrombocytopenia, formerly" RELATED [OMIM:153640] synonym: "bleeding disorder, Platelet-type, 6" RELATED [OMIM:155100] synonym: "Brodie Chole griffin syndrome" RELATED [GARD:0000179] +synonym: "Brodie Chole gryphon syndrome" RELATED OMO:0003005 [] synonym: "Dohle leukocyte inclusions with giant platelets" RELATED [OMIM:155100] synonym: "Epstein syndrome" EXACT [GARD:0000180, OMIM:153650] synonym: "Fechtner syndrome" EXACT [GARD:0000180, MONDO:Lexical, OMIM:153640] @@ -311410,6 +315400,7 @@ subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:183487"} synonym: "genetic skin tumor" RELATED [Orphanet:183487] +synonym: "genetic skin tumour" RELATED OMO:0003005 [] xref: Orphanet:183487 {source="MONDO:equivalentTo"} xref: UMLS:CN200547 {source="MONDO:equivalentTo"} is_a: MONDO:0005070 {source="MONDO:Redundant", source="Orphanet:183487"} ! neoplasm @@ -312264,6 +316255,8 @@ synonym: "aminopterin fetopathy syndrome" RELATED [GARD:0002294] synonym: "aminopterin syndrome" RELATED [GARD:0002294] synonym: "fetal aminopterin syndrome" EXACT [Orphanet:1908] synonym: "fetal methotrexate syndrome" RELATED [GARD:0002294] +synonym: "foetal aminopterin syndrome" EXACT OMO:0003005 [] +synonym: "foetal methotrexate syndrome" RELATED OMO:0003005 [] xref: ICD10CM:Q86.8 {source="Orphanet:1908/ntbt", source="Orphanet:1908"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10071183 {source="Orphanet:1908", source="Orphanet:1908/e"} @@ -312281,6 +316274,7 @@ def: "Indomethacin embryofetopathy refers to the manifestations that may be obse subset: ordo_malformation_syndrome {source="Orphanet:1909"} synonym: "antenatal indomethacin exposure" RELATED [GARD:0002994] synonym: "fetal indomethacin syndrome" EXACT [Orphanet:1909] +synonym: "foetal indomethacin syndrome" EXACT OMO:0003005 [] xref: ICD10CM:Q86.8 {source="Orphanet:1909", source="Orphanet:1909/ntbt"} xref: Orphanet:1909 {source="MONDO:equivalentTo"} xref: SCTID:715430001 {source="MONDO:equivalentTo"} @@ -312339,6 +316333,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:1911"} synonym: "cocaine antenatal exposure" RELATED [GARD:0001413] synonym: "cocaine fetopathy" RELATED [GARD:0001413] synonym: "fetal cocaine syndrome" EXACT [GARD:0001413, Orphanet:1911] +synonym: "foetal cocaine syndrome" EXACT OMO:0003005 [] synonym: "prenatal cocaine exposure" RELATED [GARD:0001413] xref: ICD10CM:Q86.8 {source="Orphanet:1911/ntbt", source="Orphanet:1911"} xref: ICD9:760.75 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -312358,6 +316353,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:1912"} synonym: "Dilantin embryopathy" RELATED [GARD:0006435] synonym: "fetal dihydantoin syndrome" EXACT [Orphanet:1912] synonym: "FHS" EXACT [OMIM:617955] +synonym: "foetal dihydantoin syndrome" EXACT OMO:0003005 [] synonym: "phenytoin embryofetopathy" EXACT [Orphanet:1912] synonym: "phenytoin embryopathy" RELATED [GARD:0006435] xref: ICD10CM:Q86.1 {source="Orphanet:1912/e", source="MONDO:equivalentTo", source="Orphanet:1912"} @@ -312404,6 +316400,9 @@ synonym: "embryofetopathy due to oral anticoagulant therapy" RELATED [GARD:00085 synonym: "fetal anticoagulant syndrome" RELATED [GARD:0008580] synonym: "fetal Coumadin syndrome" EXACT [NCIT:C98906] synonym: "fetal warfarin syndrome" EXACT [NCIT:C98906] +synonym: "foetal anticoagulant syndrome" RELATED OMO:0003005 [] +synonym: "foetal Coumadin syndrome" EXACT OMO:0003005 [] +synonym: "foetal warfarin syndrome" EXACT OMO:0003005 [] synonym: "vitamin K antagonist embryofetopathy" RELATED [Orphanet:1914] synonym: "vitamin K antagonist embryopathy" EXACT [Orphanet:1914] synonym: "vitamin K antagonists embryofetopathy" RELATED [GARD:0008580] @@ -312437,6 +316436,7 @@ synonym: "ARND" EXACT ABBREVIATION [DOID:0050667, Orphanet:1915] synonym: "FAS" EXACT ABBREVIATION [Orphanet:1915] synonym: "FASD" BROAD ABBREVIATION [Orphanet:1915] synonym: "fetal alcohol spectrum disorders" BROAD [Orphanet:1915] +synonym: "foetal alcohol spectrum disorders" BROAD OMO:0003005 [] synonym: "static encephalopathy" RELATED [DOID:0050667] xref: DOID:0050665 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:0050667 {source="MONDO:equivalentTo"} @@ -312467,6 +316467,7 @@ synonym: "DES syndrome" EXACT [Orphanet:1916] synonym: "diethylstilbestrol embryofetopathy" EXACT [Orphanet:1916] synonym: "Distilbene embryofetopathy" EXACT [Orphanet:1916] synonym: "fetal diethylstilbestrol syndrome" RELATED [GARD:0001859] +synonym: "foetal diethylstilbestrol syndrome" RELATED OMO:0003005 [] xref: ICD10CM:Q86.8 {source="Orphanet:1916/ntbt", source="Orphanet:1916"} xref: MedDRA:10012780 {source="Orphanet:1916/e", source="Orphanet:1916"} xref: NCIT:C113422 {source="MONDO:equivalentTo"} @@ -312554,6 +316555,7 @@ def: "Methimazole embryopathy is a teratogenic embryofetopathy that results from subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:1923"} synonym: "fetal methimazole syndrome" RELATED [GARD:0003573] +synonym: "foetal methimazole syndrome" RELATED OMO:0003005 [] synonym: "Methimazole antenatal exposure" RELATED [GARD:0003573] synonym: "methimazole embryofetopathy" EXACT [GARD:0003573] synonym: "Methimazole/carbimazole embryofetopathy" EXACT [GARD:0003573, Orphanet:1923] @@ -312791,6 +316793,7 @@ name: Evans syndrome def: "Evans syndrome is a rare chronic hematologic disorder characterized by the simultaneous or sequential association of autoimmune hemolytic anemia (AIHA; a disorder in which auto-antibodies are directed against red blood cells causing anemia of varying degrees of severity) with immune thrombocytopenic purpura (ITP; a coagulation disorder in which auto-antibodies are directed against platelets causing hemorrhagic episodes) and occasionally autoimmune neutropenia, in the absence of a known underlying etiology." [Orphanet:1959] subset: gard_rare {source="GARD:0006389"} subset: ordo_disease {source="Orphanet:1959"} +synonym: "autoimmune hemolytic anaemia and autoimmune thrombocytopenia" EXACT OMO:0003005 [] synonym: "autoimmune hemolytic anemia and autoimmune thrombocytopenia" EXACT [Orphanet:1959] synonym: "Evan syndrome" RELATED [GARD:0006389] synonym: "Evans' syndrome" EXACT [MONDO:0004683] @@ -312959,6 +316962,7 @@ synonym: "Juvenile aponeurotic fibroma" EXACT [NCIT:C4818] synonym: "juvenile aponeurotic fibromatosis" EXACT [Orphanet:199260] synonym: "Juvenile aponeurotic fibrosis" EXACT [NCIT:C4818] synonym: "Keasby tumor" EXACT [Orphanet:199260] +synonym: "Keasby tumour" EXACT OMO:0003005 [] xref: ICD10CM:M72.8 {source="Orphanet:199260/ntbt", source="Orphanet:199260"} xref: NCIT:C4818 {source="MONDO:equivalentTo"} xref: Orphanet:199260 {source="MONDO:equivalentTo"} @@ -312974,14 +316978,18 @@ subset: gard_rare {source="GARD:0008487"} subset: ordo_disease {source="Orphanet:199267"} synonym: "asymptomatic nodular proliferation of fibrous tissue on the dorsal and lateral aspects of the fingers or toes" RELATED [GARD:0008487] synonym: "digital fibrous tumor of Reye" EXACT [NCIT:C3456] +synonym: "digital fibrous tumour of Reye" EXACT OMO:0003005 [] synonym: "IDF" RELATED ABBREVIATION [GARD:0008487] synonym: "inclusion body fibromatosis" EXACT [MONDO:ambiguous, NCIT:C3456, Orphanet:199267] synonym: "inclusion body fibromatosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "infantile digital fibroma/fibromatosis" EXACT [NCIT:C3456] synonym: "infantile digital fibromatosis" EXACT [NCIT:C3456] synonym: "recurring digital fibrous tumor of childhood" EXACT [Orphanet:199267] +synonym: "recurring digital fibrous tumour of childhood" EXACT OMO:0003005 [] synonym: "Reye tumor" EXACT [NCIT:C3456] +synonym: "Reye tumour" EXACT OMO:0003005 [] synonym: "Reye's tumor" EXACT [NCIT:C3456, Orphanet:199267] +synonym: "Reye's tumour" EXACT OMO:0003005 [] xref: EFO:1000301 {source="MONDO:equivalentTo"} xref: HP:0025197 {source="MONDO:otherHierarchy"} xref: ICD10CM:M72.8 {source="Orphanet:199267/ntbt", source="Orphanet:199267"} @@ -313847,21 +317855,32 @@ synonym: "borderline epithelial neoplasm of ovary" EXACT [NCIT:C4783] synonym: "borderline epithelial neoplasm of the ovary" EXACT [NCIT:C4783] synonym: "borderline epithelial tumor of ovary" EXACT [NCIT:C4783] synonym: "borderline epithelial tumor of the ovary" EXACT [NCIT:C4783] +synonym: "borderline epithelial tumour of the ovary" EXACT OMO:0003005 [] synonym: "borderline ovarian epithelial neoplasm" EXACT [NCIT:C4783] synonym: "borderline ovarian epithelial tumor" EXACT [NCIT:C4783, Orphanet:206473] +synonym: "borderline ovarian epithelial tumour" EXACT OMO:0003005 [] synonym: "borderline ovarian surface epithelial-stromal tumor" EXACT [NCIT:C4783] +synonym: "borderline ovarian surface epithelial-stromal tumour" EXACT OMO:0003005 [] synonym: "epithelial neoplasm of ovary of borderline malignancy" EXACT [NCIT:C4783] synonym: "epithelial neoplasm of the ovary of borderline malignancy" EXACT [NCIT:C4783] synonym: "epithelial ovarian neoplasm of borderline malignancy" EXACT [NCIT:C4783] synonym: "epithelial ovarian tumor of borderline malignancy" EXACT [NCIT:C4783] +synonym: "epithelial ovarian tumour of borderline malignancy" EXACT OMO:0003005 [] synonym: "epithelial tumor of ovary of borderline malignancy" EXACT [NCIT:C4783] synonym: "epithelial tumor of the ovary of borderline malignancy" EXACT [NCIT:C4783] +synonym: "epithelial tumour of ovary of borderline malignancy" EXACT OMO:0003005 [] +synonym: "epithelial tumour of the ovary of borderline malignancy" EXACT OMO:0003005 [] synonym: "low malignant potential ovarian tumor" EXACT [NCIT:C4783] +synonym: "low malignant potential ovarian tumour" EXACT OMO:0003005 [] synonym: "ovarian borderline malignant tumor" EXACT [NCIT:C4783] +synonym: "ovarian borderline malignant tumour" EXACT OMO:0003005 [] synonym: "ovarian low malignant potential tumor" EXACT [NCIT:C4783] +synonym: "ovarian low malignant potential tumour" EXACT OMO:0003005 [] synonym: "ovarian tum. of low malig. poten." EXACT [NCIT:C4783] synonym: "ovarian tumor of low malignant potential" EXACT [Orphanet:206473] synonym: "ovarian tumors of low malignant potential" EXACT [NCIT:C4783] +synonym: "ovarian tumour of low malignant potential" EXACT OMO:0003005 [] +synonym: "ovarian tumours of low malignant potential" EXACT OMO:0003005 [] xref: EFO:1000140 {source="MONDO:equivalentTo"} xref: ICD10CM:C56 {source="Orphanet:206473/ntbt", source="Orphanet:206473"} xref: NCIT:C4783 {source="MONDO:equivalentTo"} @@ -313879,7 +317898,9 @@ name: vaginal germ cell malignant tumor def: "A malignant germ cell tumor that involves the vagina." [MONDO:patterns/location] subset: ordo_disease {source="Orphanet:206489"} synonym: "malignant germ cell tumor of the vagina" RELATED [Orphanet:206489] +synonym: "malignant germ cell tumour of the vagina" RELATED OMO:0003005 [] synonym: "vagina malignant germ cell tumor" EXACT [MONDO:patterns/location] +synonym: "vagina malignant germ cell tumour" EXACT OMO:0003005 [] synonym: "vaginal germ cell cancer" EXACT [Orphanet:206489] xref: ICD10CM:C52 {source="Orphanet:206489/ntbt", source="Orphanet:206489"} xref: Orphanet:206489 {source="MONDO:equivalentTo"} @@ -313915,9 +317936,11 @@ def: "A malignant germ cell tumor other than dysgerminoma that arises from the o subset: ordo_disease {source="Orphanet:206538"} synonym: "non-dysgerminomatous germ cell cancer of ovary" EXACT [Orphanet:206538] synonym: "ovarian non-dysgerminomatous germ cell tumor" EXACT [NCIT:C102870] +synonym: "ovarian non-dysgerminomatous germ cell tumour" EXACT OMO:0003005 [] synonym: "ovarian nondysgerm. GCT, NOS" RELATED EXCLUDE [NCIT:C102870] synonym: "ovarian Nondysgerminomatous germ cell tumor" EXACT [NCIT:C102870] synonym: "ovarian nondysgerminomatous germ cell tumor, NOS" RELATED EXCLUDE [NCIT:C102870] +synonym: "ovarian Nondysgerminomatous germ cell tumour" EXACT OMO:0003005 [] xref: ICD10CM:C56 {source="Orphanet:206538/ntbt", source="Orphanet:206538"} xref: NCIT:C102870 {source="MONDO:equivalentTo"} xref: Orphanet:206538 {source="MONDO:equivalentTo"} @@ -313987,6 +318010,7 @@ id: MONDO:0016101 name: neurolymphomatosis def: "A transmissible viral disease of birds caused by avian herpesvirus 2 (herpesvirus 2, gallid) and other mardivirus. There is lymphoid cell infiltration or lymphomatous tumor formation in the peripheral nerves and gonads, but may also involve visceral organs, skin, muscle, and the eye." [MESH:D008380] subset: ordo_disease {source="Orphanet:206586"} +synonym: "fowl paralyses" RELATED OMO:0003005 [] synonym: "fowl paralysis" RELATED [GARD:0006974] synonym: "fowl paralyzes" RELATED [GARD:0006974] synonym: "Marek disease" RELATED [GARD:0006974] @@ -314202,6 +318226,7 @@ subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:206704"} synonym: "bulbospinal muscular atrophy of childhood" EXACT [MONDO:patterns/childhood] synonym: "childhood bulbospinal muscular atrophy" EXACT [MONDO:design_pattern] +synonym: "paediatric bulbospinal muscular atrophy" EXACT OMO:0003005 [] synonym: "pediatric bulbospinal muscular atrophy" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] xref: ICD10CM:G12.2 {source="Orphanet:206704/attributed", source="Orphanet:206704/ntbt", source="Orphanet:206704"} xref: Orphanet:206704 {source="MONDO:equivalentTo"} @@ -315074,6 +319099,7 @@ subset: gard_rare {source="GARD:0006227"} subset: ordo_group_of_disorders {source="Orphanet:209"} synonym: "cutis laxa" EXACT [DOID:3144] synonym: "elastolysis" EXACT [NCIT:C84663] +synonym: "generalised elastolysis" RELATED OMO:0003005 [] synonym: "generalized elastolysis" RELATED [GARD:0006227] synonym: "loose skin" EXACT [DOID:3144] xref: DOID:3144 {source="MONDO:equivalentTo"} @@ -315952,6 +319978,8 @@ name: solitary fibrous tumor def: "Solitary fibrous tumor (SFT) represents a diverse group of ubiquitous rare spindle cell neoplasms that may be benign or malignant and that most frequently arises from the pleura and peritoneum and rarely from other sites such as head and neck, liver and skeletal muscle. SFT may be clinically asymptomatic or may present with enlarging mass, compressive effects depending on the site involved and rarely with paraneoplastic manifestations (osteoarthropathy or hypoglycemia)." [Orphanet:2126] subset: ordo_disease {source="Orphanet:2126"} synonym: "hemangiopericytoma" RELATED [NCIT:C7634] +synonym: "localised fibrous mesothelioma" EXACT OMO:0003005 [] +synonym: "localised fibrous tumour" EXACT OMO:0003005 [] synonym: "localized fibrous mesothelioma" EXACT [NCIT:C7634] synonym: "localized fibrous tumor" EXACT [NCIT:C7634] synonym: "SFT" EXACT ABBREVIATION [NCIT:C7634] @@ -316039,6 +320067,7 @@ synonym: "alternating hemiplegia syndrome" RELATED [GARD:0000011] synonym: "childhood alternating hemiplegia" EXACT [MONDO:design_pattern] synonym: "congenital adrenal gland hypoplasia" EXACT [NCIT:C35261] synonym: "congenital adrenal Hypoplasia" EXACT [NCIT:C35261] +synonym: "paediatric alternating hemiplegia" EXACT OMO:0003005 [] synonym: "pediatric alternating hemiplegia" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] xref: DOID:0050635 {source="MONDO:equivalentTo"} xref: ICD10CM:G98 {source="Orphanet:2131/attributed", source="Orphanet:2131/ntbt", source="DOID:0050635", source="Orphanet:2131"} @@ -316113,6 +320142,7 @@ synonym: "atypical HUS" EXACT [GARD:0008702, Orphanet:2134] synonym: "D-HUS" EXACT [Orphanet:2134] synonym: "D-minus hemolytic uremic syndrome (D-HUS)" RELATED [GARD:0006240] synonym: "hemolytic-uremic syndrome without diarrhea" EXACT [Orphanet:2134] +synonym: "hemolytic-uremic syndrome without diarrhoea" EXACT OMO:0003005 [] synonym: "HUS, atypical" RELATED [GARD:0008702] synonym: "non-diarrhea-associated hemolytic uremic syndrome" EXACT [NCIT:C123223] xref: DOID:0080301 {source="MONDO:equivalentTo"} @@ -316152,6 +320182,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:213517"} synonym: "familial ovarian cancer" EXACT CLINGEN_PREFERRED [] synonym: "familial ovarian malignant tumor" EXACT [Orphanet:213517] +synonym: "familial ovarian malignant tumour" EXACT OMO:0003005 [] synonym: "hereditary ovarian cancer" EXACT [MONDO:patterns/hereditary] xref: ICD10CM:C56 {source="Orphanet:213517", source="Orphanet:213517/attributed", source="Orphanet:213517/ntbt"} xref: Orphanet:213517 {source="MONDO:equivalentTo"} @@ -316252,9 +320283,11 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:213589"} synonym: "body of uterus mixed neoplasm" EXACT [MONDO:patterns/location] synonym: "malignant mixed epithelial and mesenchymal tumor of corpus uteri" RELATED [Orphanet:213589] +synonym: "malignant mixed epithelial and mesenchymal tumour of corpus uteri" RELATED OMO:0003005 [] synonym: "mixed epithelial and mesenchymal cancer of corpus uteri" NARROW [Orphanet:213589] synonym: "uterine corpus mixed epithelial and mesenchymal neoplasm" EXACT [NCIT:C40181] synonym: "uterine corpus mixed epithelial and mesenchymal tumor" EXACT [NCIT:C40181] +synonym: "uterine corpus mixed epithelial and mesenchymal tumour" EXACT OMO:0003005 [] xref: ICD10CM:C54.0 {source="Orphanet:213589/btnt", source="Orphanet:213589"} xref: ICD10CM:C54.1 {source="Orphanet:213589/btnt", source="Orphanet:213589"} xref: ICD10CM:C54.2 {source="Orphanet:213589/btnt", source="Orphanet:213589"} @@ -316340,6 +320373,7 @@ synonym: "carcinosarcoma of uterine body" EXACT [NCIT:C9180] synonym: "carcinosarcoma of uterine corpus" EXACT [NCIT:C9180] synonym: "carcinosarcoma of uterus" EXACT [NCIT:C9180] synonym: "corpus uteri malignant mixed mesodermal tumor" EXACT [NCIT:C9180] +synonym: "corpus uteri malignant mixed mesodermal tumour" EXACT OMO:0003005 [] synonym: "malignant mixed mesodermal neoplasm of the uterine body" EXACT [NCIT:C9180] synonym: "malignant mixed mesodermal neoplasm of the uterine corpus" EXACT [NCIT:C9180] synonym: "malignant mixed mesodermal neoplasm of the uterus" EXACT [NCIT:C9180] @@ -316352,9 +320386,18 @@ synonym: "malignant mixed mesodermal tumor of the uterus" EXACT [NCIT:C9180] synonym: "malignant mixed mesodermal tumor of uterine body" EXACT [NCIT:C9180] synonym: "malignant mixed mesodermal tumor of uterine corpus" EXACT [NCIT:C9180] synonym: "malignant mixed mesodermal tumor of uterus" EXACT [NCIT:C9180] +synonym: "malignant mixed mesodermal tumour of the uterine body" EXACT OMO:0003005 [] +synonym: "malignant mixed mesodermal tumour of the uterine corpus" EXACT OMO:0003005 [] +synonym: "malignant mixed mesodermal tumour of the uterus" EXACT OMO:0003005 [] +synonym: "malignant mixed mesodermal tumour of uterine body" EXACT OMO:0003005 [] +synonym: "malignant mixed mesodermal tumour of uterine corpus" EXACT OMO:0003005 [] +synonym: "malignant mixed mesodermal tumour of uterus" EXACT OMO:0003005 [] synonym: "malignant mixed Mullerian tumor of the corpus uteri" EXACT [Orphanet:213610] +synonym: "malignant mixed Mullerian tumour of the corpus uteri" EXACT OMO:0003005 [] synonym: "malignant mixed müllerian tumor of corpus uteri" RELATED [GARD:0012335] synonym: "malignant mixed Müllerian tumor of the corpus uteri" EXACT [Orphanet:213610] +synonym: "malignant mixed müllerian tumour of corpus uteri" RELATED OMO:0003005 [] +synonym: "malignant mixed Müllerian tumour of the corpus uteri" EXACT OMO:0003005 [] synonym: "mixed Mullerian cancer of corpus uteri" EXACT [Orphanet:213610] synonym: "mixed Mullerian sarcoma of the uterus" EXACT [NCIT:C9180] synonym: "mixed Mullerian sarcoma of uterus" EXACT [NCIT:C9180] @@ -316364,18 +320407,25 @@ synonym: "mixed Müllerian sarcoma of uterus" EXACT [NCIT:C9180] synonym: "uterine body carcinosarcoma" EXACT [NCIT:C9180] synonym: "uterine body malignant mixed mesodermal neoplasm" EXACT [NCIT:C9180] synonym: "uterine body malignant mixed mesodermal tumor" EXACT [NCIT:C9180] +synonym: "uterine body malignant mixed mesodermal tumour" EXACT OMO:0003005 [] synonym: "uterine carcinosarcoma" BROAD [NCIT:C9180, Orphanet:213610] synonym: "uterine corpus carcinosarcoma" EXACT [NCIT:C9180] synonym: "uterine corpus malignant mixed mesodermal (Mullerian) tumor" EXACT [NCIT:C9180] +synonym: "uterine corpus malignant mixed mesodermal (Mullerian) tumour" EXACT OMO:0003005 [] synonym: "uterine corpus malignant mixed mesodermal (Müllerian) tumor" EXACT [NCIT:C9180] +synonym: "uterine corpus malignant mixed mesodermal (Müllerian) tumour" EXACT OMO:0003005 [] synonym: "uterine corpus malignant mixed mesodermal neoplasm" EXACT [NCIT:C9180] synonym: "uterine corpus malignant mixed mesodermal tumor" EXACT [NCIT:C9180] +synonym: "uterine corpus malignant mixed mesodermal tumour" EXACT OMO:0003005 [] synonym: "uterine corpus malignant mixed Mullerian neoplasm" EXACT [NCIT:C9180] synonym: "uterine corpus malignant mixed Mullerian tumor" EXACT [NCIT:C9180] +synonym: "uterine corpus malignant mixed Mullerian tumour" EXACT OMO:0003005 [] synonym: "uterine corpus malignant mixed Müllerian neoplasm" EXACT [NCIT:C9180] synonym: "uterine corpus malignant mixed Müllerian tumor" EXACT [NCIT:C9180] +synonym: "uterine corpus malignant mixed Müllerian tumour" EXACT OMO:0003005 [] synonym: "uterine malignant mixed mesodermal neoplasm" EXACT [NCIT:C9180] synonym: "uterine malignant mixed mesodermal tumor" EXACT [NCIT:C9180] +synonym: "uterine malignant mixed mesodermal tumour" EXACT OMO:0003005 [] synonym: "uterine mixed Mullerian sarcoma" EXACT [NCIT:C9180] synonym: "uterine mixed Müllerian sarcoma" EXACT [NCIT:C9180] xref: ICD10CM:C54.9 {source="Orphanet:213610", source="Orphanet:213610/ntbt"} @@ -316454,9 +320504,12 @@ name: primitive neuroectodermal tumor of the corpus uteri def: "A primitive neuroectodermal tumor that involves the body of uterus." [MONDO:patterns/location] subset: ordo_disease {source="Orphanet:213630"} synonym: "body of uterus primitive neuroectodermal tumor" EXACT [MONDO:patterns/location] +synonym: "body of uterus primitive neuroectodermal tumour" EXACT OMO:0003005 [] synonym: "malignant peripheral neuroectodermal tumor of the corpus uteri" EXACT [Orphanet:213630] +synonym: "malignant peripheral neuroectodermal tumour of the corpus uteri" EXACT OMO:0003005 [] synonym: "peripheral neuroectodermal cancer of the corpus uteri" EXACT [Orphanet:213630] synonym: "primitive neuroectodermal tumor of body of uterus" EXACT [] +synonym: "primitive neuroectodermal tumour of body of uterus" EXACT OMO:0003005 [] xref: ICD10CM:C54.0 {source="Orphanet:213630", source="Orphanet:213630/btnt"} xref: ICD10CM:C54.1 {source="Orphanet:213630", source="Orphanet:213630/btnt"} xref: ICD10CM:C54.2 {source="Orphanet:213630", source="Orphanet:213630/btnt"} @@ -316576,9 +320629,12 @@ name: low-grade neuroendocrine tumor of the corpus uteri def: "Low-grade neuroendocrine tumor of the corpus uteri is an extremely rare uterine cancer typically characterized by a well demarcated, solid, frequently pedunculated tumor originating from neuroendocrine cells scattered within the endometrium, often associated with ectopic hormone production. Patients usually present with vaginal bleeding or discharge and a pelvic mass with a polypoid tumor sometimes protruding through the cervical canal. Symptoms related to ectopic hormone production (flushing, sweating, diarrhea, bronchospasm) may also develop." [Orphanet:213736] subset: ordo_disease {source="Orphanet:213736"} synonym: "low-grade neuroendocrine tumor of the uterine corpus" EXACT [Orphanet:213736] +synonym: "low-grade neuroendocrine tumour of the uterine corpus" EXACT OMO:0003005 [] synonym: "well-differentiated neuroendocrine neoplasm of the endometrium" EXACT [Orphanet:213736] synonym: "well-differentiated neuroendocrine tumor of the corpus uteri" EXACT [Orphanet:213736] synonym: "well-differentiated neuroendocrine tumor of the endometrium" EXACT [Orphanet:213736] +synonym: "well-differentiated neuroendocrine tumour of the corpus uteri" EXACT OMO:0003005 [] +synonym: "well-differentiated neuroendocrine tumour of the endometrium" EXACT OMO:0003005 [] xref: ICD10CM:C54.0 {source="Orphanet:213736", source="Orphanet:213736/btnt"} xref: ICD10CM:C54.1 {source="Orphanet:213736", source="Orphanet:213736/btnt"} xref: ICD10CM:C54.2 {source="Orphanet:213736", source="Orphanet:213736/btnt"} @@ -316628,9 +320684,11 @@ name: malignant germ cell tumor of corpus uteri def: "A malignant germ cell tumor that involves the body of uterus." [MONDO:patterns/location] subset: ordo_disease {source="Orphanet:213751"} synonym: "body of uterus malignant germ cell tumor" EXACT [MONDO:patterns/location] +synonym: "body of uterus malignant germ cell tumour" EXACT OMO:0003005 [] synonym: "germ cell cancer of corpus uteri" EXACT [Orphanet:213751] synonym: "germ cell cancer of the corpus uteri" EXACT [Orphanet:213751] synonym: "malignant germ cell tumor of the corpus uteri" RELATED [Orphanet:213751] +synonym: "malignant germ cell tumour of the corpus uteri" RELATED OMO:0003005 [] xref: ICD10CM:C54.0 {source="Orphanet:213751", source="Orphanet:213751/btnt"} xref: ICD10CM:C54.1 {source="Orphanet:213751", source="Orphanet:213751/btnt"} xref: ICD10CM:C54.2 {source="Orphanet:213751", source="Orphanet:213751/btnt"} @@ -316690,6 +320748,7 @@ name: malignant mixed epithelial and mesenchymal tumor of cervix uteri subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:213782"} synonym: "cervical malignant mixed epithelial and mesenchymal tumor" EXACT [Orphanet:213782] +synonym: "cervical malignant mixed epithelial and mesenchymal tumour" EXACT OMO:0003005 [] synonym: "mixed epithelial and mesenchymal cancer of cervix uteri" EXACT [Orphanet:213782] xref: ICD10CM:C53.0 {source="MONDO:relatedTo", source="Orphanet:213782/btnt", source="Orphanet:213782"} xref: ICD10CM:C53.1 {source="Orphanet:213782/btnt", source="Orphanet:213782"} @@ -316720,8 +320779,10 @@ def: "A sarcoma involving a uterine cervix." [MONDO:patterns/sarcoma] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:213797"} synonym: "cervical malignant mesenchymal tumor" EXACT [Orphanet:213797] +synonym: "cervical malignant mesenchymal tumour" EXACT OMO:0003005 [] synonym: "cervical sarcoma" EXACT [Orphanet:213797] synonym: "malignant mesenchymal tumor of cervix uteri" EXACT [Orphanet:213797] +synonym: "malignant mesenchymal tumour of cervix uteri" EXACT OMO:0003005 [] synonym: "sarcoma of uterine cervix" EXACT [MONDO:patterns/sarcoma] synonym: "uterine cervix sarcoma" EXACT [MONDO:patterns/location] xref: ICD10CM:C53.0 {source="Orphanet:213797", source="MONDO:relatedTo", source="Orphanet:213797/btnt"} @@ -316813,8 +320874,10 @@ name: primitive neuroectodermal tumor of the cervix uteri def: "Primitive neuroectodermal tumor of the cervix uteri is a rare cancer of cervix uteri derived from neural crest cells, histologically composed of small, round neoplatic cells with variable degree of neural, glial and ependymal differentiation. Macroscopically, the tumor is often a large, soft, poorly circumscribed mass with infiltrative borders and necrotic areas. It presents with dysfuntional vaginal bleeding or discharge, lower abdominal pain and uterine enlargement." [Orphanet:213812] subset: ordo_disease {source="Orphanet:213812"} synonym: "cervical malignant peripheral neuroectodermal tumor" EXACT [Orphanet:213812] +synonym: "cervical malignant peripheral neuroectodermal tumour" EXACT OMO:0003005 [] synonym: "cervical peripheral neuroectodermal cancer" EXACT [Orphanet:213812] synonym: "malignant peripheral neuroectodermal tumor of the cervix uteri" EXACT [Orphanet:213812] +synonym: "malignant peripheral neuroectodermal tumour of the cervix uteri" EXACT OMO:0003005 [] synonym: "peripheral neuroectodermal cancer of cervix uteri" EXACT [Orphanet:213812] xref: ICD10CM:C53.0 {source="MONDO:relatedTo", source="Orphanet:213812", source="Orphanet:213812/btnt"} xref: ICD10CM:C53.1 {source="Orphanet:213812", source="Orphanet:213812/btnt"} @@ -316879,10 +320942,13 @@ def: "A malignant germ cell tumor that involves the uterine cervix." [MONDO:patt subset: ordo_disease {source="Orphanet:213837"} synonym: "cervical germ cell cancer" EXACT [Orphanet:213837] synonym: "cervical malignant germ cell tumor" EXACT [Orphanet:213837] +synonym: "cervical malignant germ cell tumour" EXACT OMO:0003005 [] synonym: "germ cell cancer of cervix uteri" EXACT [Orphanet:213837] synonym: "germ cell cancer of the cervix uteri" EXACT [Orphanet:213837] synonym: "malignant germ cell tumor of the cervix uteri" RELATED [Orphanet:213837] +synonym: "malignant germ cell tumour of the cervix uteri" RELATED OMO:0003005 [] synonym: "uterine cervix malignant germ cell tumor" EXACT [MONDO:patterns/location] +synonym: "uterine cervix malignant germ cell tumour" EXACT OMO:0003005 [] xref: ICD10CM:C53.0 {source="MONDO:relatedTo", source="Orphanet:213837/btnt", source="Orphanet:213837"} xref: ICD10CM:C53.1 {source="Orphanet:213837/btnt", source="Orphanet:213837"} xref: ICD10CM:C53.8 {source="Orphanet:213837/btnt", source="Orphanet:213837"} @@ -319183,6 +323249,7 @@ synonym: "acquired Gronblad-Strandberg-Touraine syndrome" EXACT [Orphanet:228247 synonym: "acquired pseudoxanthoma elasticum" EXACT [MONDO:patterns/acquired] synonym: "acquired pseudoxanthoma elasticum (inherited or acquired)" EXACT [MONDO:patterns/acquired] synonym: "acquired PXE" EXACT [Orphanet:228247] +synonym: "localised acquired cutaneous pseudoxanthoma elasticum" EXACT OMO:0003005 [] synonym: "localized acquired cutaneous pseudoxanthoma elasticum" EXACT [PMID:528701] xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:228247 {source="MONDO:equivalentTo"} @@ -319588,13 +323655,17 @@ def: "Isotretinoin embryopathy is an association of malformations caused by the subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:2305"} synonym: "Accutane fetal effects of" RELATED [GARD:0000517] +synonym: "Accutane foetal effects of" RELATED OMO:0003005 [] synonym: "Accutane-exposed pregnancies" RELATED [GARD:0000517] synonym: "Acutane embryopathy" RELATED [GARD:0000517] synonym: "fetal isotretinoin syndrome" EXACT [NCIT:C98929] synonym: "fetal retinoid syndrome" EXACT [NCIT:C98929] +synonym: "foetal isotretinoin syndrome" EXACT OMO:0003005 [] +synonym: "foetal retinoid syndrome" EXACT OMO:0003005 [] synonym: "Isotretinoin (RoAccutane) embryopathy" RELATED [GARD:0000517] synonym: "Isotretinoin embryopathy" EXACT [GARD:0000517, Orphanet:2305] synonym: "Isotretinoin fetal effects of" RELATED [GARD:0000517] +synonym: "Isotretinoin foetal effects of" RELATED OMO:0003005 [] synonym: "Isotretinoin teratogen syndrome" RELATED [GARD:0000517] synonym: "retinoic acid embryopathy" EXACT [Orphanet:2305] synonym: "Retinoids embryopathy" EXACT [Orphanet:2305] @@ -319723,10 +323794,13 @@ name: familial rhabdoid tumor def: "A neoplastic syndrome most often caused by mutations in the hSNF5/INI1 tumor suppressor gene. It is characterized by the development of an atypical teratoid/rhabdoid tumor in infancy and early childhood. This highly aggressive tumor develops in the central nervous system as an isolated lesion or in combination with extrarenal or renal rhabdoid tumor. Patients may also develop other central nervous system malignancies including medulloblastoma, supratentorial primitive neuroectodermal tumor, and choroid plexus carcinoma." [NCIT:C93268] subset: ordo_clinical_subtype {source="Orphanet:231108"} synonym: "familial posterior fossa brain tumor syndrome of infancy" EXACT [NCIT:C93268] +synonym: "familial posterior fossa brain tumour syndrome of infancy" EXACT OMO:0003005 [] synonym: "familial rhabdoid tumor" EXACT CLINGEN_PREFERRED [] synonym: "hereditary rhabdoid tumor" EXACT [MONDO:patterns/hereditary] +synonym: "hereditary rhabdoid tumour" EXACT OMO:0003005 [] synonym: "rhabdoid predisposition syndrome" EXACT [NCIT:C93268] synonym: "rhabdoid tumor predisposition syndrome" EXACT [NCIT:C93268, Orphanet:231108] +synonym: "rhabdoid tumour predisposition syndrome" EXACT OMO:0003005 [] synonym: "RTPS" EXACT ABBREVIATION [Orphanet:231108] xref: ICD10CM:C49.9 {source="Orphanet:231108", source="Orphanet:231108/attributed", source="Orphanet:231108/ntbt"} xref: NCIT:C93268 {source="MONDO:equivalentTo"} @@ -319865,6 +323939,7 @@ name: intracranial berry aneurysm def: "An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm." [DOID:0060228, http://en.wikipedia.org/wiki/Intracranial_aneurysm#Saccular_aneurysms, http://radiopaedia.org/articles/saccular-cerebral-aneurysm, http://www.hopkinsmedicine.org/healthlibrary/conditions/cardiovascular_diseases/cerebral_aneurysm_85\,P08772/] subset: ordo_disease {source="Orphanet:231160"} synonym: "aneurysm, intracranial berry" EXACT [OMIMPS:105800] +synonym: "familial aneurysmal subarachnoid haemorrhage" EXACT OMO:0003005 [] synonym: "familial aneurysmal subarachnoid hemorrhage" EXACT [DOID:0060228] synonym: "familial berry aneurysm" EXACT [DOID:0060228, Orphanet:231160] synonym: "familial cerebral saccular aneurysm" RELATED [Orphanet:231160] @@ -319921,8 +323996,11 @@ name: beta-thalassemia major def: "Beta-thalassemia (BT) major is a severe early-onset form of BT characterized by severe anemia requiring regular red blood cell transfusions." [Orphanet:231214] subset: ordo_clinical_subtype {source="Orphanet:231214"} synonym: "Beta thalassemia Major" EXACT [NCIT:C129699] +synonym: "Cooley anaemia" EXACT OMO:0003005 [] synonym: "Cooley anemia" EXACT [Orphanet:231214] +synonym: "Cooley's Anaemia" EXACT OMO:0003005 [] synonym: "Cooley's Anemia" EXACT [NCIT:C129699] +synonym: "Mediterranean anaemia" EXACT OMO:0003005 [] synonym: "Mediterranean anemia" EXACT [Orphanet:231214] xref: DOID:0080771 {source="MONDO:equivalentTo"} xref: ICD10CM:D56.1 {source="Orphanet:231214", source="Orphanet:231214/attributed", source="Orphanet:231214/ntbt"} @@ -320219,6 +324297,7 @@ name: ectopic aldosterone-producing tumor def: "Ectopic aldosterone-producing tumor is an extremely rare aldosterone-producing neoplasm composed of aberrant adrenocortical tissue located outside the adrenal glands (e.g. in retroperitoneum, perirenal or periaortic fatty tissue, thorax, spinal canal, testes, ovaries) typically characterized by symptoms related to increased aldosterone levels (such as sustained, treatment-resistant hypertension and hypokalemia) or symptoms caused by local tumor enlargement." [Orphanet:231632] subset: ordo_disease {source="Orphanet:231632"} synonym: "Extra-adrenal aldosterone-producing tumor" EXACT [Orphanet:231632] +synonym: "Extra-adrenal aldosterone-producing tumour" EXACT OMO:0003005 [] xref: ICD10CM:E26.8 {source="Orphanet:231632", source="Orphanet:231632/ntbt"} xref: Orphanet:231632 {source="MONDO:equivalentTo"} xref: UMLS:CN201515 {source="MONDO:equivalentTo"} @@ -320254,6 +324333,7 @@ id: MONDO:0016509 name: microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome subset: ordo_malformation_syndrome {source="Orphanet:231736"} synonym: "microcornea posterior megalolenticonus persistent fetal vasculature coloboma" RELATED [GARD:0010938] +synonym: "microcornea posterior megalolenticonus persistent foetal vasculature coloboma" RELATED OMO:0003005 [] synonym: "MPPC syndrome" EXACT [Orphanet:231736] xref: ICD10CM:Q15.8 {source="Orphanet:231736/ntbt", source="Orphanet:231736"} xref: Orphanet:231736 {source="MONDO:equivalentTo"} @@ -321922,6 +326002,7 @@ subset: gard_rare {source="GARD:0012015"} subset: ordo_disease {source="Orphanet:247762"} synonym: "embryonic lipoma" EXACT [NCIT:C27483] synonym: "fetal lipoma" EXACT [NCIT:C27483] +synonym: "foetal lipoma" EXACT OMO:0003005 [] synonym: "infantile lipoma" EXACT [NCIT:C27483] xref: MESH:D062689 {source="MONDO:equivalentTo"} xref: NCIT:C27483 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -322141,6 +326222,7 @@ id: MONDO:0016624 name: inherited deficiency anemia subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:248296"} +synonym: "constitutional rare deficiency anaemia" EXACT OMO:0003005 [] synonym: "constitutional rare deficiency anemia" EXACT [Orphanet:248296] xref: Orphanet:248296 {source="MONDO:equivalentTo"} is_a: MONDO:0001639 {source="MONDO:Redundant", source="Orphanet:248296"} ! deficiency anemia @@ -322154,6 +326236,7 @@ name: acquired deficiency anemia def: "An instance of deficiency anemia that is acquired during the lifetime of the individual." [MONDO:patterns/acquired] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:248302"} +synonym: "rare acquired deficiency anaemia" EXACT OMO:0003005 [] synonym: "rare acquired deficiency anemia" EXACT [Orphanet:248302] xref: Orphanet:248302 {source="MONDO:equivalentTo"} xref: UMLS:CN226976 {source="MONDO:equivalentTo"} @@ -322384,8 +326467,10 @@ synonym: "meningioma" EXACT [MONDO:ambiguous, NCIT:C3230] synonym: "meningioma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "meningioma, NOS" RELATED EXCLUDE [NCIT:C3230] synonym: "meningothelial cell tumor" RELATED [DOID:3565] +synonym: "meningothelial cell tumour" RELATED OMO:0003005 [] synonym: "neoplasm of the meninges" RELATED EXCLUDE [DOID:3565] synonym: "primary meningeal tumor" RELATED [DOID:3565] +synonym: "primary meningeal tumour" RELATED OMO:0003005 [] synonym: "supratentorial meningioma" RELATED [DOID:3565] xref: DOID:3565 {source="MONDO:equivalentTo"} xref: HP:0002858 {source="MONDO:otherHierarchy"} @@ -322846,6 +326931,7 @@ name: sickle cell-beta-thalassemia disease syndrome def: "Sickle beta thalassemia is an inherited condition that affects hemoglobin, the protein in red blood cells that carries oxygen to different parts of the body.It is a type of sickle cell disease. Affected people havea differentchange (mutation) in each copy of their HBB gene: onethat causes red blood cells to form a 'sickle' or crescent shape and a second that is associated with beta thalassemia, a blood disorder that reduces the production of hemoglobin. Depending on the beta thalassemia mutation, people may have no normal hemoglobin (called sickle beta zero thalassemia) or a reduced amount of normal hemoglobin (called sickle beta plus thalassemia). The presence of sickle-shaped red blood cells, which often breakdown prematurely and can get stuck in blood vessels, combined with the reduction or absence of mature redblood cells leadsto the many signs and symptoms of sickle beta thalassemia. Features, which may include anemia (low levels of red blood cells), repeated infections, and frequent episodes of pain, generally develop in early childhood and vary in severity depending on the amount of normal hemoglobin made. Sickle beta thalassemia is inherited in an autosomal recessive manner. Treatment is supportive and depends on the signs and symptoms present in each person." [GARD:0010333] subset: gard_rare subset: ordo_disease {source="Orphanet:251359"} +synonym: "Haemoglobin sickle-beta thalassemia" RELATED OMO:0003005 [] synonym: "Hb S beta-thalassemia" RELATED [GARD:0010333] synonym: "Hb S-Beta thalassemia" EXACT [NCIT:C95539] synonym: "HbS - beta-thalassemia" RELATED [GARD:0010333] @@ -322873,6 +326959,7 @@ id: MONDO:0016669 name: sickle cell-hemoglobin c disease syndrome subset: ordo_disease {source="Orphanet:251365"} synonym: "HbSC disease" EXACT [Orphanet:251365] +synonym: "sickle cell - haemoglobin C disease" RELATED OMO:0003005 [] synonym: "sickle cell - hemoglobin C disease" RELATED [GARD:0006584] xref: ICD10CM:D57.2 {source="Orphanet:251365/inclusion", source="Orphanet:251365", source="Orphanet:251365/ntbt"} xref: MedDRA:10057072 {source="Orphanet:251365", source="Orphanet:251365/e"} @@ -322885,6 +326972,7 @@ id: MONDO:0016670 name: sickle cell-hemoglobin d disease syndrome subset: ordo_disease {source="Orphanet:251370"} synonym: "HbSD disease" EXACT [Orphanet:251370] +synonym: "sickle cell - haemoglobin D disease" RELATED OMO:0003005 [] synonym: "sickle cell - hemoglobin D disease" RELATED [GARD:0012458] xref: ICD10CM:D57.2 {source="Orphanet:251370", source="Orphanet:251370/ntbt", source="Orphanet:251370/inclusion"} xref: MedDRA:10056724 {source="Orphanet:251370", source="Orphanet:251370/e"} @@ -323028,6 +327116,7 @@ synonym: "high grade astrocytic neoplasm" EXACT [NCIT:C102897] synonym: "high grade astrocytic tumor" EXACT [NCIT:C102897] synonym: "high-grade astrocytic neoplasm" EXACT [NCIT:C102897] synonym: "high-grade astrocytic tumor" EXACT [NCIT:C102897] +synonym: "high-grade astrocytic tumour" EXACT OMO:0003005 [] synonym: "high-grade astrocytoma" RELATED [Orphanet:251561] xref: NCIT:C102897 {source="MONDO:equivalentTo"} xref: Orphanet:251561 {source="MONDO:equivalentTo"} @@ -323113,6 +327202,7 @@ synonym: "anaplastic astrocytoma" EXACT [DOID:3078, NCIT:C9477] synonym: "astrocytoma, anaplastic, malignant" EXACT [NCIT:C9477] synonym: "grade III astrocytic neoplasm" EXACT [NCIT:C9477] synonym: "grade III astrocytic tumor" EXACT [DOID:3078, NCIT:C9477] +synonym: "grade III astrocytic tumour" EXACT OMO:0003005 [] synonym: "grade III astrocytoma" EXACT [MONDO:0002504, NCIT:C9477] synonym: "high-grade astrocytoma, NOS" RELATED EXCLUDE [NCIT:C9477] synonym: "malignant astrocytoma" EXACT [NCIT:C9477] @@ -323157,6 +327247,7 @@ synonym: "fibrillary astrocytoma (histologic variant)" RELATED [GARD:0005907] synonym: "gemistocytic astrocytoma (histologic variant)" RELATED [GARD:0005907] synonym: "grade II astrocytic neoplasm" EXACT [NCIT:C7173] synonym: "grade II astrocytic tumor" EXACT [NCIT:C7173] +synonym: "grade II astrocytic tumour" EXACT OMO:0003005 [] synonym: "grade II astrocytoma" EXACT [NCIT:C7173] synonym: "low-grade astrocytoma, NOS" RELATED EXCLUDE [NCIT:C7173] synonym: "low-grade diffuse astrocytoma" RELATED [GARD:0005907] @@ -323179,6 +327270,7 @@ name: protoplasmic astrocytoma def: "A rare variant of diffuse astrocytoma. It is predominantly composed of neoplastic astrocytes showing a small cell body with few, flaccid processes with a low content of glial filaments and scant GFAP expression. This lesion is not well defined and is considered by some authors as an occasional histopathological feature rather than a reproducibly identifiable variant. When occurring in children, this neoplasm may be difficult to separate from pilocytic juvenile astrocytoma. (Adapted from WHO)" [NCIT:C4320] subset: ordo_histopathological_subtype {source="Orphanet:251598"} synonym: "protoplasmic astrocytic tumor" EXACT [DOID:7008, NCIT:C4320] +synonym: "protoplasmic astrocytic tumour" EXACT OMO:0003005 [] synonym: "protoplasmic astrocytoma" EXACT [NCIT:C4320] synonym: "protoplasmic astrocytoma (morphologic abnormality)" EXACT [DOID:7008] xref: DOID:7008 {source="MONDO:equivalentTo"} @@ -323198,6 +327290,7 @@ def: "The most frequent histological variant of diffuse astrocytoma. It is predo subset: ordo_histopathological_subtype {source="Orphanet:251601"} synonym: "diffuse astrocytoma" RELATED EXCLUDE [DOID:6726] synonym: "fibrillary astrocytic tumors" EXACT [DOID:6726, NCIT:C4322] +synonym: "fibrillary astrocytic tumours" EXACT OMO:0003005 [] synonym: "fibrillary astrocytoma" EXACT [NCIT:C4322] xref: DOID:6726 {source="MONDO:equivalentTo"} xref: ICD10CM:C71.9 {source="Orphanet:251601", source="Orphanet:251601/ntbt"} @@ -323217,6 +327310,7 @@ name: gemistocytic astrocytoma def: "A rare variant of diffuse astrocytoma. It is characterized by the presence of a conspicuous, though variable, fraction of gemistocytic neoplastic astrocytes. Gemistocytes are round to oval astrocytes with abundant, glassy, non-fibrillary cytoplasm which appears to displace the dark, angulated nucleus to the periphery of the cell. To make the diagnosis of gemistocytic astrocytoma, gemistocytes should amount to more than approximately 20% of all tumor cells. (Adapted from WHO)" [NCIT:C4321] subset: ordo_histopathological_subtype {source="Orphanet:251604"} synonym: "gemistocytic astrocytic tumor" EXACT [DOID:7005, NCIT:C4321] +synonym: "gemistocytic astrocytic tumour" EXACT OMO:0003005 [] synonym: "gemistocytic astrocytoma" EXACT [NCIT:C4321] synonym: "gemistocytic astrocytoma (morphologic abnormality)" EXACT [DOID:7005] synonym: "Gemistocytoma" EXACT [NCIT:C4321] @@ -323261,6 +327355,7 @@ synonym: "astrocytoma, benign" EXACT [NCIT:C4047] synonym: "astrocytoma, pilocytic, benign" EXACT [NCIT:C4047] synonym: "grade I astrocytic neoplasm" EXACT [NCIT:C4047] synonym: "grade I astrocytic tumor" EXACT [DOID:4851, NCIT:C4047] +synonym: "grade I astrocytic tumour" EXACT OMO:0003005 [] synonym: "grade I astrocytoma" EXACT [NCIT:C4047] synonym: "pilocytic astrocytoma" EXACT [NCIT:C4047] synonym: "Piloid astrocytoma" EXACT [DOID:4851] @@ -323309,6 +327404,7 @@ subset: ordo_disease {source="Orphanet:251618"} synonym: "SEGA" EXACT ABBREVIATION [DOID:5077, NCIT:C3696, Orphanet:251618] synonym: "subependymal giant cell astrocytic neoplasm" EXACT [NCIT:C3696] synonym: "subependymal giant cell astrocytic tumor" EXACT [NCIT:C3696] +synonym: "subependymal giant cell astrocytic tumour" EXACT OMO:0003005 [] synonym: "subependymal giant cell astrocytoma (morphologic abnormality)" EXACT [DOID:5077] xref: DOID:5077 {source="MONDO:equivalentTo"} xref: ICD10CM:D43.2 {source="Orphanet:251618", source="Orphanet:251618/ntbt"} @@ -323336,12 +327432,15 @@ def: "A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tu subset: ordo_disease {source="Orphanet:251627"} synonym: "oligodendroglial neoplasm" BROAD [DOID:3181] synonym: "oligodendroglial tumor" BROAD [DOID:3181, NCIT:C6960] +synonym: "oligodendroglial tumour" BROAD OMO:0003005 [] synonym: "oligodendroglioma" EXACT [NCIT:C3288] synonym: "oligodendroglioma, NOS" RELATED EXCLUDE [NCIT:C3288] synonym: "well differentiated oligodendroglial tumor" EXACT [NCIT:C3288] +synonym: "well differentiated oligodendroglial tumour" EXACT OMO:0003005 [] synonym: "well differentiated oligodendroglioma" EXACT [NCIT:C3288] synonym: "WHO grade II oligodendroglial neoplasm" EXACT [NCIT:C3288] synonym: "WHO grade II oligodendroglial tumor" EXACT [NCIT:C3288] +synonym: "WHO grade II oligodendroglial tumour" EXACT OMO:0003005 [] xref: DOID:3181 {source="MONDO:equivalentTo"} xref: ICD10CM:C71.9 {source="Orphanet:251627"} xref: ICD10CM:C79.1 {source="Orphanet:251627/ntbt"} @@ -323373,6 +327472,7 @@ synonym: "oligodendroglioma, malignant" EXACT [NCIT:C4326] synonym: "undifferentiated oligodendroglioma" EXACT [NCIT:C4326] synonym: "WHO grade III oligodendroglial neoplasm" EXACT [NCIT:C4326] synonym: "WHO grade III oligodendroglial tumor" EXACT [NCIT:C4326] +synonym: "WHO grade III oligodendroglial tumour" EXACT OMO:0003005 [] xref: DOID:7154 {source="MONDO:equivalentTo"} xref: EFO:0002501 {source="MONDO:equivalentTo"} xref: ICD10CM:C71.9 {source="Orphanet:251630"} @@ -323418,6 +327518,7 @@ synonym: "papillary ependymoma (histologic variant)" RELATED [GARD:0006353] synonym: "tanycytic ependymoma (histologic variant)" RELATED [GARD:0006353] synonym: "WHO grade II ependymal neoplasm" NARROW [NCIT:C3017] synonym: "WHO grade II ependymal tumor" NARROW [DOID:4844, NCIT:C3017] +synonym: "WHO grade II ependymal tumour" NARROW OMO:0003005 [] xref: DOID:4844 {source="MONDO:equivalentTo"} xref: ICD10CM:D43.2 {source="Orphanet:251636/ntbt", source="Orphanet:251636"} xref: ICDO:9391/3 {source="NCIT:C3017"} @@ -323468,18 +327569,22 @@ subset: gard_rare {source="GARD:0010634"} subset: ordo_disease {source="Orphanet:251646"} synonym: "anaplastic ependymal neoplasm" EXACT [NCIT:C4049] synonym: "anaplastic ependymal tumor" EXACT [NCIT:C4049] +synonym: "anaplastic ependymal tumour" EXACT OMO:0003005 [] synonym: "anaplastic ependymoma" EXACT [NCIT:C4049] synonym: "ependymal neoplasm" RELATED EXCLUDE [DOID:5074] synonym: "ependymal tumors" BROAD [DOID:5074] +synonym: "ependymal tumours" BROAD OMO:0003005 [] synonym: "ependymoma, anaplastic, malignant" EXACT [NCIT:C4049] synonym: "ependymoma, malignant" EXACT [MONDO:patterns/malignant] synonym: "high-grade ependymoma" EXACT [Orphanet:251646] synonym: "malignant ependymoma" EXACT [NCIT:C4049] synonym: "undifferentiated ependymal neoplasm" EXACT [NCIT:C4049] synonym: "undifferentiated ependymal tumor" EXACT [NCIT:C4049] +synonym: "undifferentiated ependymal tumour" EXACT OMO:0003005 [] synonym: "undifferentiated ependymoma" EXACT [NCIT:C4049] synonym: "WHO grade III ependymal neoplasm" EXACT [NCIT:C4049] synonym: "WHO grade III ependymal tumor" EXACT [NCIT:C4049] +synonym: "WHO grade III ependymal tumour" EXACT OMO:0003005 [] xref: DOID:5074 {source="MONDO:equivalentTo"} xref: DOID:5889 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: ICD10CM:C71.9 {source="Orphanet:251646/ntbt", source="Orphanet:251646"} @@ -323507,6 +327612,7 @@ subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:251651"} synonym: "mixed oligodendroglial and astrocytic tumor" EXACT [Orphanet:251651] +synonym: "mixed oligodendroglial and astrocytic tumour" EXACT OMO:0003005 [] xref: Orphanet:251651 {source="MONDO:equivalentTo"} xref: UMLS:C0280793 {source="Orphanet:251651"} xref: UMLS:CN201945 {source="MONDO:equivalentTo"} @@ -323524,6 +327630,7 @@ subset: ordo_disease {source="Orphanet:251656"} synonym: "glioma, mixed, benign" EXACT [NCIT:C4050] synonym: "mixed astrocytic-oligodendroglial neoplasm" EXACT [NCIT:C4050] synonym: "mixed astrocytic-oligodendroglial tumor" EXACT [NCIT:C4050] +synonym: "mixed astrocytic-oligodendroglial tumour" EXACT OMO:0003005 [] synonym: "mixed astrocytoma-oligodendroglioma" EXACT [NCIT:C4050] synonym: "mixed oligo-astrocytoma" EXACT [NCIT:C4050] synonym: "mixed oligoastrocytoma" EXACT [Orphanet:251656] @@ -323591,6 +327698,7 @@ def: "Angiocentric glioma (AG) is an extremely rare slow-growing glial neoplasm subset: ordo_disease {source="Orphanet:251671"} synonym: "angiocentric glioma (WHO grade I)" EXACT [NCIT:C92552] synonym: "angiocentric neuroepithelial tumor" EXACT [NCIT:C92552] +synonym: "angiocentric neuroepithelial tumour" EXACT OMO:0003005 [] synonym: "ANGL" RELATED ABBREVIATION [ONCOTREE:ANGL] synonym: "Monomorphus angiocentric glioma" EXACT [NCIT:C92552] xref: DOID:0081261 {source="MONDO:equivalentTo"} @@ -323753,6 +327861,7 @@ subset: ordo_group_of_disorders {source="Orphanet:251870"} synonym: "central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor" EXACT [MONDO:patterns/location, NCIT:C129537] synonym: "central nervous system PNET" BROAD [Orphanet:251870] synonym: "central nervous system primitive neuroectodermal tumor" RELATED [Orphanet:251870] +synonym: "central nervous system primitive neuroectodermal tumour" RELATED OMO:0003005 [] synonym: "CNS PNET" RELATED [Orphanet:251870] xref: MedDRA:10057846 {source="Orphanet:251870", source="Orphanet:251870/e"} xref: NCIT:C129537 {source="MONDO:equivalentTo"} @@ -323781,11 +327890,17 @@ synonym: "embryonal tumor with abundant neuropil and true rosettes" RELATED [GAR synonym: "embryonal tumor with Multilayered Rosettes" EXACT [NCIT:C4915] synonym: "embryonal tumor with Multilayered Rosettes with C19MC amplification" EXACT [NCIT:C4915] synonym: "embryonal tumor with Multilayered Rosettes, C19MC-altered" EXACT [NCIT:C4915] +synonym: "embryonal tumour with abundant neuropil and true Rosettes" EXACT OMO:0003005 [] +synonym: "embryonal tumour with abundant neuropil and true rosettes" RELATED OMO:0003005 [] +synonym: "embryonal tumour with Multilayered Rosettes" EXACT OMO:0003005 [] +synonym: "embryonal tumour with Multilayered Rosettes with C19MC amplification" EXACT OMO:0003005 [] +synonym: "embryonal tumour with Multilayered Rosettes, C19MC-altered" EXACT OMO:0003005 [] synonym: "ependymoblastoma" EXACT [NCIT:C4915] synonym: "ETANTR" RELATED ABBREVIATION [GARD:0006352, ONCOTREE:ETANTR] synonym: "ETMR" RELATED ABBREVIATION [GARD:0006352] synonym: "ETMR, C19MC-altered" EXACT [NCIT:C4915] synonym: "neuroectodermal tumors primitive" RELATED [GARD:0006352] +synonym: "neuroectodermal tumours primitive" RELATED OMO:0003005 [] xref: DOID:0080903 {source="MONDO:equivalentTo"} xref: DOID:4794 {source="MONDO:equivalentObsolete"} xref: ICD10CM:C71.9 {source="Orphanet:251880/ntbt", source="Orphanet:251880"} @@ -323817,10 +327932,13 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:251896"} synonym: "choroid plexus neoplasm" EXACT [NCIT:C3473] synonym: "choroid plexus tumor" EXACT [NCIT:C3473] +synonym: "choroid plexus tumour" EXACT OMO:0003005 [] synonym: "neoplasm of choroid plexus" EXACT [NCIT:C3473] synonym: "neoplasm of the choroid plexus" EXACT [NCIT:C3473] synonym: "tumor of choroid plexus" EXACT [NCIT:C3473] synonym: "tumor of the choroid plexus" EXACT [NCIT:C3473] +synonym: "tumour of choroid plexus" EXACT OMO:0003005 [] +synonym: "tumour of the choroid plexus" EXACT OMO:0003005 [] xref: NCIT:C3473 {source="MONDO:equivalentTo"} xref: ONCOTREE:CPT {source="MONDO:equivalentTo"} xref: Orphanet:251896 {source="MONDO:equivalentTo"} @@ -323851,6 +327969,7 @@ synonym: "choroid plexus carcinoma (morphologic abnormality)" EXACT [DOID:5648] synonym: "malignant neoplasm of choroid plexus" BROAD [DOID:5648] synonym: "malignant neoplasm of the choroid plexus" BROAD [DOID:5648, NCIT:C4533] synonym: "malignant tumor of choroid plexus" BROAD [DOID:5648] +synonym: "malignant tumour of choroid plexus" BROAD OMO:0003005 [] xref: DOID:5648 {source="MONDO:equivalentTo"} xref: ICD10CM:C71.7 {source="Orphanet:251899/ntbt", source="Orphanet:251899"} xref: ICDO:9390/3 {source="NCIT:C4715"} @@ -323921,9 +328040,11 @@ subset: ordo_disease {source="Orphanet:251909"} synonym: "pineal gland PNET" EXACT [NCIT:C9344] synonym: "pineal gland primitive neuroectodermal neoplasm" EXACT [NCIT:C9344] synonym: "pineal gland primitive neuroectodermal tumor" EXACT [NCIT:C9344] +synonym: "pineal gland primitive neuroectodermal tumour" EXACT OMO:0003005 [] synonym: "pineal PNET" EXACT [DOID:1664, NCIT:C9344] synonym: "pineal primitive neuroectodermal neoplasm" EXACT [NCIT:C9344] synonym: "pineal primitive neuroectodermal tumor" EXACT [NCIT:C9344] +synonym: "pineal primitive neuroectodermal tumour" EXACT OMO:0003005 [] synonym: "pineoblastoma" EXACT [NCIT:C9344] synonym: "pineoblastoma (WHO grade IV)" EXACT [NCIT:C9344] synonym: "pineoblastoma, malignant" EXACT [NCIT:C9344] @@ -323933,6 +328054,8 @@ synonym: "primitive neuroectodermal neoplasm of pineal gland" EXACT [NCIT:C9344] synonym: "primitive neuroectodermal neoplasm of the pineal gland" EXACT [NCIT:C9344] synonym: "primitive neuroectodermal tumor of pineal gland" EXACT [NCIT:C9344] synonym: "primitive neuroectodermal tumor of the pineal gland" EXACT [NCIT:C9344] +synonym: "primitive neuroectodermal tumour of pineal gland" EXACT OMO:0003005 [] +synonym: "primitive neuroectodermal tumour of the pineal gland" EXACT OMO:0003005 [] xref: DOID:1664 {source="MONDO:equivalentTo", source="EFO:1000475"} xref: EFO:1000475 {source="MONDO:equivalentTo"} xref: ICD10CM:C75.3 {source="Orphanet:251909", source="Orphanet:251909/ntbt"} @@ -324056,8 +328179,11 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:251934"} synonym: "neuronal and Glio-neuronal neoplasm" EXACT [NCIT:C4747] synonym: "neuronal and Glio-neuronal tumor" EXACT [NCIT:C4747] +synonym: "neuronal and Glio-neuronal tumour" EXACT OMO:0003005 [] synonym: "neuronal and mixed neuronal-glial tumor" EXACT [NCIT:C4747] synonym: "neuronal and mixed neuronal-glial tumors" EXACT [NCIT:C4747] +synonym: "neuronal and mixed neuronal-glial tumour" EXACT OMO:0003005 [] +synonym: "neuronal and mixed neuronal-glial tumours" EXACT OMO:0003005 [] xref: NCIT:C4747 {source="MONDO:equivalentTo"} xref: Orphanet:251934 {source="MONDO:equivalentTo"} xref: UMLS:C0474844 {source="MONDO:equivalentTo", source="NCIT:C4747"} @@ -324117,6 +328243,7 @@ synonym: "childhood ganglioglioma" NARROW [DOID:5078] synonym: "CNS ganglioglioma" EXACT [DOID:5078] synonym: "ganglioglioma" EXACT [NCIT:C3788] synonym: "mixed cell tumors containing both neural ganglionic cells and neural glial cell components" RELATED [GARD:0002430] +synonym: "mixed cell tumours containing both neural ganglionic cells and neural glial cell components" RELATED OMO:0003005 [] xref: DOID:5078 {source="MONDO:equivalentTo"} xref: EFO:0003094 {source="MONDO:equivalentTo"} xref: ICDO:9505/1 {source="NCIT:C3788"} @@ -324160,6 +328287,7 @@ name: papillary glioneuronal tumor def: "A WHO grade I, indolent and relatively circumscribed brain tumor. Morphologically it is characterized by the presence of astrocytes that line vascular and hyalinized pseudopapillae. In between the pseudopapillae aggregates of neurocytes, large neurons, and ganglioid cells are present." [NCIT:P378] subset: ordo_disease {source="Orphanet:251962"} synonym: "papillary glioneuronal tumor (WHO grade I)" EXACT [NCIT:C92554] +synonym: "papillary glioneuronal tumour (WHO grade I)" EXACT OMO:0003005 [] synonym: "PGNT" EXACT ABBREVIATION [ONCOTREE:PGNT, Orphanet:251962] synonym: "pseudopapillary ganglioglioneurocytoma" EXACT [Orphanet:251962] synonym: "pseudopapillary neurocytoma with glial differentiation" EXACT [Orphanet:251962] @@ -324179,8 +328307,10 @@ def: "A central nervous system neoplasm mostly occurring in the fourth ventricle subset: ordo_disease {source="Orphanet:251975"} synonym: "DNT of the cerebellum" EXACT [Orphanet:251975] synonym: "dysembryoplastic neuroepithelial tumor of cerebellum" EXACT [Orphanet:251975] +synonym: "dysembryoplastic neuroepithelial tumour of cerebellum" EXACT OMO:0003005 [] synonym: "RGNT" EXACT ABBREVIATION [Orphanet:251975] synonym: "rosette-forming glioneuronal tumor" EXACT [NCIT:C129431] +synonym: "rosette-forming glioneuronal tumour" EXACT OMO:0003005 [] xref: DOID:0081284 {source="MONDO:equivalentTo"} xref: NCIT:C129431 {source="MONDO:equivalentTo"} xref: Orphanet:251975 {source="MONDO:equivalentTo"} @@ -324202,6 +328332,7 @@ subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:251995"} synonym: "primary germ cell tumor of CNS" EXACT [Orphanet:251995] +synonym: "primary germ cell tumour of CNS" EXACT OMO:0003005 [] xref: Orphanet:251995 {source="MONDO:equivalentTo"} xref: UMLS:CN201986 {source="MONDO:equivalentTo"} is_a: MONDO:0018201 {source="Orphanet:251995"} ! extragonadal germ cell tumor @@ -324216,16 +328347,27 @@ name: yolk sac tumor of central nervous system def: "A malignant germ cell tumor of the central nervous system composed of primitive-appearing epithelial cells - putatively representing yolk sac endoderm - set in a loose, variably cellular, and often conspicuously myxoid matrix, resembling extra-embryonic mesoblast. Eosinophilic hyaline globules immunoreactive for AFP are a diagnostic feature. (WHO)" [NCIT:C7011] subset: ordo_clinical_subtype {source="Orphanet:252006"} synonym: "central nervous system yolk Sac tumor" EXACT [NCIT:C7011] +synonym: "central nervous system yolk Sac tumour" EXACT OMO:0003005 [] synonym: "CNS yolk Sac tumor" EXACT [NCIT:C7011] +synonym: "CNS yolk Sac tumour" EXACT OMO:0003005 [] synonym: "endodermal sinus tumor of central nervous system" EXACT [Orphanet:252006] synonym: "endodermal sinus tumor of CNS" EXACT [Orphanet:252006] +synonym: "endodermal sinus tumour of central nervous system" EXACT OMO:0003005 [] +synonym: "endodermal sinus tumour of CNS" EXACT OMO:0003005 [] synonym: "intracranial endodermal sinus tumor" EXACT [Orphanet:252006] +synonym: "intracranial endodermal sinus tumour" EXACT OMO:0003005 [] synonym: "intracranial yolk sac tumor" EXACT [Orphanet:252006] +synonym: "intracranial yolk sac tumour" EXACT OMO:0003005 [] synonym: "yolk Sac tumor of central nervous system" EXACT [NCIT:C7011] synonym: "yolk Sac tumor of CNS" EXACT [NCIT:C7011] synonym: "yolk sac tumor of CNS" EXACT [Orphanet:252006] synonym: "yolk Sac tumor of the central nervous system" EXACT [NCIT:C7011] synonym: "yolk Sac tumor of the CNS" EXACT [NCIT:C7011] +synonym: "yolk Sac tumour of central nervous system" EXACT OMO:0003005 [] +synonym: "yolk Sac tumour of CNS" EXACT OMO:0003005 [] +synonym: "yolk sac tumour of CNS" EXACT OMO:0003005 [] +synonym: "yolk Sac tumour of the central nervous system" EXACT OMO:0003005 [] +synonym: "yolk Sac tumour of the CNS" EXACT OMO:0003005 [] xref: NCIT:C7011 {source="MONDO:equivalentTo"} xref: Orphanet:252006 {source="MONDO:equivalentTo"} xref: UMLS:C1337040 {source="NCIT:C7011", source="MONDO:notFoundInDiseaseSubset"} @@ -324267,11 +328409,16 @@ name: mixed germ cell tumor of central nervous system def: "A malignant germ cell tumor of the central nervous system characterized by the presence of at least two types of germ cell neoplasia." [NCIT:P378] subset: ordo_clinical_subtype {source="Orphanet:252021"} synonym: "central nervous system mixed germ cell tumor" EXACT [MONDO:patterns/location, NCIT:C7016] +synonym: "central nervous system mixed germ cell tumour" EXACT OMO:0003005 [] synonym: "CNS mixed germ cell tumor" EXACT [NCIT:C7016] +synonym: "CNS mixed germ cell tumour" EXACT OMO:0003005 [] synonym: "mixed germ cell neoplasm of the central nervous system" EXACT [NCIT:C7016] synonym: "mixed germ cell tumor of CNS" EXACT [NCIT:C7016, Orphanet:252021] synonym: "mixed germ cell tumor of the central nervous system" EXACT [NCIT:C7016] synonym: "mixed germ cell tumor of the CNS" EXACT [NCIT:C7016] +synonym: "mixed germ cell tumour of CNS" EXACT OMO:0003005 [] +synonym: "mixed germ cell tumour of the central nervous system" EXACT OMO:0003005 [] +synonym: "mixed germ cell tumour of the CNS" EXACT OMO:0003005 [] xref: NCIT:C7016 {source="MONDO:equivalentTo"} xref: Orphanet:252021 {source="MONDO:equivalentTo"} xref: UMLS:C1334785 {source="MONDO:equivalentTo", source="NCIT:C7016"} @@ -324291,19 +328438,26 @@ subset: ordo_group_of_disorders {source="Orphanet:252025"} synonym: "meningeal cluster neoplasm" EXACT [] synonym: "meningeal cluster neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "meningeal cluster rare nervous system tumor" EXACT [MONDO:patterns/location] +synonym: "meningeal cluster rare nervous system tumour" EXACT OMO:0003005 [] synonym: "meningeal cluster tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "meningeal cluster tumour" EXACT OMO:0003005 [] synonym: "meningeal neoplasm" EXACT [NCIT:C3229] synonym: "meningeal neoplasms" EXACT [NCIT:C3229] synonym: "meningeal tumor" EXACT [NCIT:C3229] +synonym: "meningeal tumour" EXACT OMO:0003005 [] synonym: "meninges neoplasm" EXACT [NCIT:C3229] synonym: "meninges tumor" EXACT [NCIT:C3229] +synonym: "meninges tumour" EXACT OMO:0003005 [] synonym: "meningothelial tumor" RELATED [ONCOTREE:MNGT] +synonym: "meningothelial tumour" RELATED OMO:0003005 [] synonym: "neoplasm of meningeal cluster" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of meninges" EXACT [NCIT:C3229] synonym: "neoplasm of the meninges" EXACT [NCIT:C3229] synonym: "tumor of meningeal cluster" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of meninges" EXACT [NCIT:C3229] synonym: "tumor of the meninges" EXACT [NCIT:C3229] +synonym: "tumour of meningeal cluster" EXACT OMO:0003005 [] +synonym: "tumour of the meninges" EXACT OMO:0003005 [] xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10061282 {source="Orphanet:252025", source="Orphanet:252025/e"} xref: NCIT:C3229 {source="MONDO:equivalentTo"} @@ -324326,6 +328480,7 @@ subset: ordo_group_of_disorders {source="Orphanet:252028"} synonym: "primary melanocytic lesion of central nervous system" EXACT [Orphanet:252028] synonym: "primary melanocytic lesion of CNS" EXACT [Orphanet:252028] synonym: "primary melanocytic tumor of CNS" EXACT [Orphanet:252028] +synonym: "primary melanocytic tumour of CNS" EXACT OMO:0003005 [] xref: Orphanet:252028 {source="MONDO:equivalentTo"} xref: UMLS:CN201991 {source="MONDO:equivalentTo"} is_a: MONDO:0016743 {source="Orphanet:252028"} ! tumor of meninges @@ -324425,6 +328580,7 @@ subset: disease_grouping subset: gard_rare {source="GARD:0012697"} subset: ordo_group_of_disorders {source="Orphanet:252057"} synonym: "rare tumor of cranial and spinal nerves" EXACT [Orphanet:252057] +synonym: "rare tumour of cranial and spinal nerves" EXACT OMO:0003005 [] xref: Orphanet:252057 {source="MONDO:equivalentTo"} xref: UMLS:CN201996 {source="MONDO:equivalentTo"} is_a: MONDO:0021248 {source="Orphanet:252057"} ! nervous system neoplasm @@ -324455,7 +328611,9 @@ name: malignant perineurioma def: "A very rare malignant tumor with morphologic features similar to those of benign perineurioma of soft tissue along with hypercellularity, nuclear atypia, hyperchromasia, and a high mitotic rate." [NCIT:C66845] subset: ordo_disease {source="Orphanet:252128"} synonym: "malignant peripheral nerve sheath tumor with perineurial differentiation" EXACT [NCIT:C66845] +synonym: "malignant peripheral nerve sheath tumour with perineurial differentiation" EXACT OMO:0003005 [] synonym: "perineurial malignant peripheral nerve sheath tumor" EXACT [NCIT:C66845] +synonym: "perineurial malignant peripheral nerve sheath tumour" EXACT OMO:0003005 [] synonym: "perineurioma, malignant" EXACT [MONDO:patterns/malignant] xref: ICDO:9571/3 {source="NCIT:C66845"} xref: NCIT:C66845 {source="MONDO:equivalentTo"} @@ -324547,9 +328705,14 @@ synonym: "malignant neoplasm of the peripheral nerve sheath with rhabdomyosarcom synonym: "malignant peripheral nerve sheath neoplasm with rhabdomyosarcoma" EXACT [DOID:6707] synonym: "malignant peripheral nerve sheath tumor with rhabdomyosarcoma" EXACT [NCIT:C4335] synonym: "malignant peripheral nerve sheath tumor with rhabdomyosarcomatous differenciation" EXACT [Orphanet:252212] +synonym: "malignant peripheral nerve sheath tumour with rhabdomyosarcoma" EXACT OMO:0003005 [] +synonym: "malignant peripheral nerve sheath tumour with rhabdomyosarcomatous differenciation" EXACT OMO:0003005 [] synonym: "malignant Triton tumor" EXACT [DOID:6707] +synonym: "malignant Triton tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of peripheral nerve sheath with rhabdomyosarcoma" EXACT [NCIT:C4335] synonym: "malignant tumor of the peripheral nerve sheath with rhabdomyosarcoma" EXACT [NCIT:C4335] +synonym: "malignant tumour of peripheral nerve sheath with rhabdomyosarcoma" EXACT OMO:0003005 [] +synonym: "malignant tumour of the peripheral nerve sheath with rhabdomyosarcoma" EXACT OMO:0003005 [] synonym: "MPNST with rhabdomyoblastic differentiation" EXACT [DOID:6707] synonym: "MPNST with rhabdomyosarcoma" EXACT [DOID:6707, NCIT:C4335] synonym: "MPNST with rhabdomyosarcomatous differentiation" EXACT [Orphanet:252212] @@ -325688,6 +329851,7 @@ name: autosomal recessive sideroblastic anemia def: "Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin." [Orphanet:260305] subset: ordo_disease {source="Orphanet:260305"} synonym: "ARSA" EXACT ABBREVIATION [Orphanet:260305] +synonym: "congenital sideroblastic anaemia" BROAD OMO:0003005 [] synonym: "congenital sideroblastic anemia" BROAD [Orphanet:260305] synonym: "sideroblastic anemia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] xref: ICD10CM:D64.0 {source="Orphanet:260305/attributed", source="Orphanet:260305/ntbt", source="Orphanet:260305"} @@ -328162,6 +332326,7 @@ synonym: "epithelioid thymoma" EXACT [DOID:3282, NCIT:C7114] synonym: "plump cell thymoma" EXACT [NCIT:C7114] synonym: "primary thymic epithelial neoplasm type B" EXACT [Orphanet:263317] synonym: "primary thymic epithelial tumor type B" EXACT [Orphanet:263317] +synonym: "primary thymic epithelial tumour type B" EXACT OMO:0003005 [] synonym: "thymoma type B" EXACT [NCIT:C7114] xref: DOID:3282 {source="MONDO:equivalentTo"} xref: ICD10CM:C37 {source="Orphanet:263317/ntbt", source="Orphanet:263317"} @@ -328183,6 +332348,7 @@ subset: ordo_histopathological_subtype {source="Orphanet:263324"} synonym: "mixed type thymoma" EXACT [NCIT:C6885] synonym: "primary thymic epithelial neoplasm type AB" EXACT [Orphanet:263324] synonym: "primary thymic epithelial tumor type AB" EXACT [Orphanet:263324] +synonym: "primary thymic epithelial tumour type AB" EXACT OMO:0003005 [] synonym: "thymoma type AB" EXACT [MONDO:0002589, NCIT:C6885] synonym: "thymoma, mixed type" EXACT [DOID:3280] xref: DOID:3280 {source="MONDO:equivalentTo"} @@ -328474,6 +332640,7 @@ replaced_by: MONDO:0024548 id: MONDO:0016993 name: generalized peeling skin syndrome type C subset: ordo_clinical_subtype {source="Orphanet:263558"} +synonym: "generalised deciduous skin type C" EXACT OMO:0003005 [] synonym: "generalized deciduous skin type C" EXACT [Orphanet:263558] synonym: "peeling skin syndrome type C" RELATED [Orphanet:263558] xref: ICD10CM:Q80.8 {source="Orphanet:263558", source="Orphanet:263558/attributed", source="Orphanet:263558/ntbt"} @@ -328766,6 +332933,7 @@ synonym: "chILD syndrome" EXACT [PMID:23905526] synonym: "childhood interstitial lung disease" EXACT [] synonym: "ILD specific to childhood" EXACT [Orphanet:264656] synonym: "interstitial lung disease of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] +synonym: "paediatric interstitial lung disease" EXACT OMO:0003005 [] synonym: "pediatric interstitial lung disease" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] xref: Orphanet:264656 {source="MONDO:equivalentTo"} xref: SCTID:328661000119108 {source="MONDO:equivalentTo"} @@ -330237,7 +334405,9 @@ subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:271832"} synonym: "genetic mesenchymal cell neoplasm" EXACT [MONDO:patterns/genetic] synonym: "genetic mesenchymal tumor" EXACT [Orphanet:271832] +synonym: "genetic mesenchymal tumour" EXACT OMO:0003005 [] synonym: "genetic soft tissue tumor" RELATED [Orphanet:271832] +synonym: "genetic soft tissue tumour" RELATED OMO:0003005 [] synonym: "hereditary mesenchymal cell neoplasm" EXACT [MONDO:patterns/hereditary] xref: Orphanet:271832 {source="MONDO:equivalentTo"} xref: UMLS:CN202526 {source="MONDO:equivalentTo"} @@ -330257,6 +334427,7 @@ subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:271835"} synonym: "genetic digestive tract tumor" RELATED [Orphanet:271835] +synonym: "genetic digestive tract tumour" RELATED OMO:0003005 [] xref: Orphanet:271835 {source="MONDO:equivalentTo"} xref: UMLS:CN202527 {source="MONDO:equivalentTo"} is_a: MONDO:0005070 {source="Orphanet:271835"} ! neoplasm @@ -330276,7 +334447,9 @@ subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:271841"} synonym: "genetic cardiac tumor" RELATED [Orphanet:271841] +synonym: "genetic cardiac tumour" RELATED OMO:0003005 [] synonym: "genetic heart tumor" EXACT [Orphanet:271841] +synonym: "genetic heart tumour" EXACT OMO:0003005 [] synonym: "hereditary heart neoplasm" EXACT [MONDO:patterns/hereditary] xref: Orphanet:271841 {source="MONDO:equivalentTo"} xref: UMLS:CN202528 {source="MONDO:equivalentTo"} @@ -330915,6 +335088,7 @@ id: MONDO:0017167 name: malignant epithelial tumor of salivary glands subset: ordo_disease {source="Orphanet:276145"} synonym: "malignant epithelial tumor of the salivary glands" RELATED [Orphanet:276145] +synonym: "malignant epithelial tumour of the salivary glands" RELATED OMO:0003005 [] xref: ICD10CM:C07 {source="Orphanet:276145", source="Orphanet:276145/btnt"} xref: ICD10CM:C08.0 {source="Orphanet:276145", source="Orphanet:276145/btnt"} xref: ICD10CM:C08.1 {source="Orphanet:276145", source="Orphanet:276145/btnt"} @@ -332003,6 +336177,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/11010/heredi id: MONDO:0017238 name: hemoglobinopathy Toms River subset: ordo_disease {source="Orphanet:280615"} +synonym: "transient neonatal cyanosis and anaemia due to Toms River Haemoglobin" EXACT OMO:0003005 [] synonym: "transient neonatal cyanosis and anemia due to Toms River Hemoglobin" EXACT [Orphanet:280615] xref: ICD10CM:D58.2 {source="Orphanet:280615/attributed", source="Orphanet:280615/ntbt", source="Orphanet:280615"} xref: Orphanet:280615 {source="MONDO:equivalentTo"} @@ -332790,8 +336965,11 @@ synonym: "DICER1 syndrome" EXACT CLINGEN_PREFERRED [GARD:0010734, NCIT:C123317, synonym: "DICER1-related pleuropulmonary blastoma" RELATED [GARD:0010734] synonym: "DICER1-related pleuropulmonary blastoma cancer predisposition syndrome" RELATED [GARD:0010734] synonym: "pleuro-pulmonary blastoma familial tumor susceptibility syndrome" EXACT [Orphanet:284343] +synonym: "pleuro-pulmonary blastoma familial tumour susceptibility syndrome" EXACT OMO:0003005 [] synonym: "pleuropulmonary blastoma familial tumor susceptibility syndrome" EXACT [Orphanet:284343] +synonym: "pleuropulmonary blastoma familial tumour susceptibility syndrome" EXACT OMO:0003005 [] synonym: "PPB familial tumor susceptibility syndrome" EXACT [Orphanet:284343] +synonym: "PPB familial tumour susceptibility syndrome" EXACT OMO:0003005 [] synonym: "PPBFTDS" EXACT ABBREVIATION [Orphanet:284343] xref: DOID:0081063 {source="MONDO:equivalentTo"} xref: EFO:0009068 {source="MONDO:equivalentTo"} @@ -332814,6 +336992,7 @@ name: fetal lung interstitial tumor subset: ordo_clinical_subtype {source="Orphanet:284362"} synonym: "flit" EXACT [Orphanet:284362] synonym: "immature interstitial mesenchymal tumor" EXACT [Orphanet:284362] +synonym: "immature interstitial mesenchymal tumour" EXACT OMO:0003005 [] xref: Orphanet:284362 {source="MONDO:equivalentTo"} xref: UMLS:CN202863 {source="MONDO:equivalentTo"} is_a: MONDO:0011014 {source="Orphanet:284362"} ! pleuropulmonary blastoma @@ -332859,10 +337038,15 @@ def: "Well-differentiated fetal adenocarcinoma (WDFA) of the lung is a rare, pri subset: ordo_disease {source="Orphanet:284395"} synonym: "fetal adenocarcinoma" EXACT [NCIT:C45509] synonym: "fetal lung adenocarcinoma" EXACT [NCIT:C45509] +synonym: "foetal adenocarcinoma" EXACT OMO:0003005 [] +synonym: "foetal lung adenocarcinoma" EXACT OMO:0003005 [] synonym: "pulmonary adenocarcinoma of fetal type" EXACT [NCIT:C45509] +synonym: "pulmonary adenocarcinoma of foetal type" EXACT OMO:0003005 [] synonym: "pulmonary endodermal tumor resembling fetal lung" EXACT [NCIT:C45509] +synonym: "pulmonary endodermal tumour resembling foetal lung" EXACT OMO:0003005 [] synonym: "WDFA" EXACT ABBREVIATION [Orphanet:284395] synonym: "well-differentiated fetal lung adenocarcinoma" EXACT [NCIT:C45509] +synonym: "well-differentiated foetal lung adenocarcinoma" EXACT OMO:0003005 [] xref: ICD10CM:C34.1 {source="Orphanet:284395", source="Orphanet:284395/btnt"} xref: ICD10CM:C34.2 {source="Orphanet:284395", source="Orphanet:284395/btnt"} xref: ICD10CM:C34.3 {source="Orphanet:284395", source="Orphanet:284395/btnt"} @@ -333620,6 +337804,7 @@ name: Epstein-Barr virus-related tumor subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:289638"} synonym: "EBV-related tumor" EXACT [Orphanet:289638] +synonym: "EBV-related tumour" EXACT OMO:0003005 [] xref: Orphanet:289638 {source="MONDO:equivalentTo"} xref: UMLS:CN203004 {source="MONDO:equivalentTo"} is_a: MONDO:0017341 {source="Orphanet:289638"} ! virus associated tumor @@ -333651,6 +337836,7 @@ name: Epstein-Barr virus-associated mesenchymal tumor subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:289656"} synonym: "EBV-associated mesenchymal tumor" EXACT [Orphanet:289656] +synonym: "EBV-associated mesenchymal tumour" EXACT OMO:0003005 [] xref: Orphanet:289656 {source="MONDO:equivalentTo"} xref: UMLS:CN203006 {source="MONDO:equivalentTo"} is_a: MONDO:0017342 {source="Orphanet:289656"} ! Epstein-Barr virus-related tumor @@ -333902,6 +338088,7 @@ synonym: "congenital rubella" EXACT [MONDO:patterns/congenital] synonym: "congenital rubella syndrome" EXACT [NCIT:C34992] synonym: "CRS" EXACT ABBREVIATION [Orphanet:290] synonym: "fetal rubella syndrome" EXACT [Orphanet:290] +synonym: "foetal rubella syndrome" EXACT OMO:0003005 [] synonym: "mother-to-child transmission of rubella syndrome" EXACT [Orphanet:290] synonym: "rubella congenital" EXACT [GARD:0004744] xref: DOID:9228 {source="EFO:0007218", source="MONDO:obsolete"} @@ -334093,6 +338280,10 @@ synonym: "fetal effects of chickenpox" RELATED [GARD:0000045] synonym: "fetal effects of varicella zoster virus" RELATED [GARD:0000045] synonym: "fetal varicella infection" RELATED [GARD:0000045] synonym: "fetal varicella zoster syndrome" RELATED [GARD:0000045] +synonym: "foetal effects of chickenpox" RELATED OMO:0003005 [] +synonym: "foetal effects of varicella zoster virus" RELATED OMO:0003005 [] +synonym: "foetal varicella infection" RELATED OMO:0003005 [] +synonym: "foetal varicella zoster syndrome" RELATED OMO:0003005 [] synonym: "mother-to-child transmission of varicella syndrome" EXACT [Orphanet:291] synonym: "Varicella embryopathy" RELATED [GARD:0000045] synonym: "Varicella virus antenatal infection" RELATED [GARD:0000045] @@ -334747,6 +338938,7 @@ name: rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-aut def: "A very rare disorder that appears after the first year and a half of life in previously healthy children. It is characterized by rapid-onset weight gain, hypothalamic dysfunction, breathing abnormalities, and autonomic system dysregulation. The hypothalamic dysfunction manifestations include inability to maintain normal water balance, high prolactin levels, low thyroid, low cortisol, and early or late puberty. The breathing abnormalities include sleep apnea and alveolar hypoventilation, requiring ventilation support. The autonomic system dysregulation includes eye abnormalities, intestinal abnormalities, temperature dysregulation, and low heart rhythm. This disorder requires early recognition because it may lead to cardiorespiratory arrest. Up to 40% of the patients develop tumors of neural crest origin." [NCIT:C121944] subset: ordo_disease {source="Orphanet:293987"} synonym: "rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation-neural tumors syndrome" EXACT [Orphanet:293987] +synonym: "rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation-neural tumours syndrome" EXACT OMO:0003005 [] synonym: "rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation" RELATED [GARD:0010407] synonym: "rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation" EXACT [NCIT:C121944] synonym: "rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome" EXACT [NCIT:C121944] @@ -337056,8 +341248,10 @@ def: "A neoplasm involving a UBERON:0002283." [MONDO:patterns/neoplasm] subset: ordo_disease {source="Orphanet:300512"} synonym: "nail matrix neoplasm" EXACT [] synonym: "nail matrix tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "nail matrix tumour" EXACT OMO:0003005 [] synonym: "neoplasm of nail matrix" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of nail matrix" EXACT [MONDO:patterns/neoplasm] +synonym: "tumour of nail matrix" EXACT OMO:0003005 [] xref: Orphanet:300512 {source="MONDO:equivalentTo"} xref: UMLS:CN203393 {source="MONDO:equivalentTo"} is_a: MONDO:0017588 {source="MONDO:Redundant", source="Orphanet:300512"} ! nail tumor @@ -337075,7 +341269,9 @@ synonym: "nail neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "nail tumor" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of nail" EXACT [MONDO:patterns/neoplasm] synonym: "rare nail tumor" RELATED [Orphanet:300515] +synonym: "rare nail tumour" RELATED OMO:0003005 [] synonym: "tumor of nail" EXACT [MONDO:patterns/neoplasm] +synonym: "tumour of nail" EXACT OMO:0003005 [] xref: Orphanet:300515 {source="MONDO:equivalentTo"} intersection_of: MONDO:0005070 ! neoplasm intersection_of: disease_has_location UBERON:0001705 ! nail @@ -337278,11 +341474,11 @@ id: MONDO:0017600 name: hairy cell leukemia variant def: "Hairy Cell Leukemia variant (HCL-V) is defined as a rare and indolent form of small, mature, B-cell leukemia characterized by splenomegaly, an elevated white blood cell (WBC) count and hyper-cellular bone marrow. HCL-V is more aggressive and resistant to therapy than classical HCL (HCL-C)." [Orphanet:300878] subset: ordo_disease {source="Orphanet:300878"} -synonym: "hairy cell leukemia variant" EXACT [NCIT:C7401] -synonym: "hairy cell leukemia variant" EXACT [DOID:713] +synonym: "hairy cell leukemia variant" EXACT [DOID:713, NCIT:C7401] synonym: "HCL-V" EXACT [NCIT:C7401] synonym: "HCL-v" EXACT [MONDO:0004113, Orphanet:300878] synonym: "leukemic reticuloendotheliosis variant" EXACT [Orphanet:300878] +synonym: "prolymphocytic variant of hairy cell leukaemia" EXACT OMO:0003005 [] synonym: "prolymphocytic variant of hairy cell leukemia" EXACT [NCIT:C7401, Orphanet:300878] synonym: "prolymphocytic variant of HCL" EXACT [Orphanet:300878] xref: DOID:713 {source="MONDO:equivalentTo"} @@ -337468,12 +341664,17 @@ synonym: "neoplasm of the pituitary" EXACT [NCIT:C3330] synonym: "neoplasm of the pituitary gland" EXACT [NCIT:C3330] synonym: "pituitary gland neoplasm" EXACT [NCIT:C3330] synonym: "pituitary gland tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3330] +synonym: "pituitary gland tumour" EXACT OMO:0003005 [] synonym: "pituitary neoplasm" EXACT [NCIT:C3330] synonym: "pituitary tumor" EXACT [NCIT:C3330] synonym: "tumor of pituitary" EXACT [NCIT:C3330] synonym: "tumor of pituitary gland" EXACT [MONDO:patterns/neoplasm, NCIT:C3330] synonym: "tumor of the pituitary" EXACT [NCIT:C3330] synonym: "tumor of the pituitary gland" EXACT [NCIT:C3330] +synonym: "tumour of pituitary" EXACT OMO:0003005 [] +synonym: "tumour of pituitary gland" EXACT OMO:0003005 [] +synonym: "tumour of the pituitary" EXACT OMO:0003005 [] +synonym: "tumour of the pituitary gland" EXACT OMO:0003005 [] xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C3330 {source="MONDO:equivalentTo"} xref: Orphanet:304055 {source="MONDO:equivalentTo"} @@ -338600,6 +342801,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017692 name: generalized galactose epimerase deficiency subset: ordo_clinical_subtype {source="Orphanet:308487"} +synonym: "generalised epimerase deficiency galactosemia" EXACT OMO:0003005 [] +synonym: "generalised GALE deficiency" EXACT OMO:0003005 [] +synonym: "generalised GALE-D" EXACT OMO:0003005 [] +synonym: "generalised UDP-galactose-4-epimerase deficiency" EXACT OMO:0003005 [] +synonym: "generalised uridine diphosphate galactose-4-epimerase deficiency" EXACT OMO:0003005 [] synonym: "generalized epimerase deficiency galactosemia" EXACT [Orphanet:308487] synonym: "generalized GALE deficiency" EXACT [Orphanet:308487] synonym: "generalized GALE-D" EXACT [Orphanet:308487] @@ -340065,6 +344271,7 @@ subset: gard_rare subset: ordo_disease {source="Orphanet:314"} synonym: "erythroderma desquamativa of Leiner" RELATED [GARD:0002191] synonym: "erythroderma desquamativum of infancy" RELATED [GARD:0002191, MESH:C535512] +synonym: "generalised erythroderma, diarrhea, and failure to thrive" RELATED OMO:0003005 [] synonym: "generalized erythroderma, diarrhea, and failure to thrive" RELATED [GARD:0002191, MESH:C535512] synonym: "Leiner disease" EXACT [Orphanet:314] synonym: "Leiner-Moussous desquamative erythroderma" RELATED [GARD:0002191, MESH:C535512] @@ -340184,6 +344391,7 @@ subset: ordo_disease {source="Orphanet:314419"} synonym: "adamantinoma" RELATED DEPRECATED [Wikipedia:Adamantinoma] synonym: "Adenoameloblastoma" RELATED [GARD:0005747] synonym: "adenomatoid odontogenic tumor" RELATED [GARD:0005747] +synonym: "adenomatoid odontogenic tumour" RELATED OMO:0003005 [] synonym: "ameloblastoma" EXACT [NCIT:C4313] synonym: "ameloblastoma of jaw" EXACT [Orphanet:314419] synonym: "aot" RELATED [GARD:0005747] @@ -340502,6 +344710,7 @@ id: MONDO:0017817 name: primary localized amyloidosis def: "Primary localized amyloidosis is a form of AL amyloidosis caused by the aggregation of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by localized amyloid deposition with clinical manifestations restricted to the organ involved, most frequently urinary tract (bladder), eye, respiratory tract (larynx, lungs), and skin." [Orphanet:314709] subset: ordo_clinical_subtype {source="Orphanet:314709"} +synonym: "localised AL amyloidosis" EXACT OMO:0003005 [] synonym: "localized AL amyloidosis" EXACT [Orphanet:314709] xref: ICD10CM:E85.4 {source="Orphanet:314709/specific", source="Orphanet:314709/e", source="Orphanet:314709"} xref: Orphanet:314709 {source="MONDO:equivalentTo"} @@ -340620,9 +344829,13 @@ synonym: "malignant peripheral nerve sheath neoplasm" EXACT [NCIT:C3798] synonym: "malignant peripheral nerve sheath tumor" EXACT [NCIT:C3798] synonym: "malignant peripheral nerve sheath tumor (morphologic abnormality)" EXACT [DOID:5940] synonym: "malignant peripheral nerve sheath tumor [dup] (morphologic abnormality)" EXACT [DOID:5940] +synonym: "malignant peripheral nerve sheath tumour (morphologic abnormality)" EXACT OMO:0003005 [] +synonym: "malignant peripheral nerve sheath tumour [dup] (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "malignant schwannoma" EXACT [NCIT:C3798, Orphanet:3148] synonym: "malignant tumor of peripheral nerve sheath" EXACT [NCIT:C3798] synonym: "malignant tumor of the peripheral nerve sheath" EXACT [NCIT:C3798] +synonym: "malignant tumour of peripheral nerve sheath" EXACT OMO:0003005 [] +synonym: "malignant tumour of the peripheral nerve sheath" EXACT OMO:0003005 [] synonym: "MPNST" EXACT ABBREVIATION [NCIT:C3798, Orphanet:3148] synonym: "neurofibrosarcoma" BROAD [NCIT:C3798, Orphanet:3148] synonym: "neurofibrosarcoma, malignant" EXACT [NCIT:C3798] @@ -341183,11 +345396,14 @@ name: acute erythroid leukemia def: "An acute myeloid leukemia characterized by a predominant immature erythroid population. There are two subtypes recognized: erythroleukemia and pure erythroid leukemia. (WHO, 2001)" [NCIT:C8923] subset: gard_rare {source="GARD:0009620"} subset: ordo_disease {source="Orphanet:318"} +synonym: "acute erythroblastic leukaemia" EXACT OMO:0003005 [] synonym: "acute erythroblastic leukemia" EXACT [NCIT:C8923] synonym: "acute erythroid leukemia" EXACT [NCIT:C8923] synonym: "acute erythroleukemia" RELATED [GARD:0009620] synonym: "acute erythroleukemia M6a subtype" RELATED [GARD:0009620] synonym: "acute erythroleukemia M6b subtype" RELATED [GARD:0009620] +synonym: "acute myeloid leukaemia FAB-M6" RELATED OMO:0003005 [] +synonym: "acute myeloid leukaemia M6" EXACT OMO:0003005 [] synonym: "acute myeloid leukemia FAB-M6" RELATED [GARD:0009620] synonym: "acute myeloid leukemia M6" EXACT [Orphanet:318] synonym: "AEL" EXACT ABBREVIATION [NCIT:C8923] @@ -341195,10 +345411,12 @@ synonym: "AML M6" EXACT [Orphanet:318] synonym: "AML-M6" RELATED [GARD:0009620] synonym: "Di Guglielmo syndrome" RELATED [GARD:0009620] synonym: "Di Guglielmo's syndrome" RELATED [GARD:0009750] +synonym: "erythroblastic leukaemia" EXACT OMO:0003005 [] synonym: "erythroblastic leukemia" EXACT [NCIT:C8923] synonym: "Erythroleukemia" RELATED [Orphanet:318] synonym: "FAB M6" EXACT [NCIT:C8923] synonym: "leukemia, erythroid, malignant" EXACT [NCIT:C8923] +synonym: "M6 acute myeloid leukaemia" EXACT OMO:0003005 [] synonym: "M6 acute myeloid leukemia" EXACT [NCIT:C8923] xref: DOID:0080780 {source="MONDO:equivalentTo"} xref: ICD10CM:C94.0 {source="Orphanet:318", source="Orphanet:318/ntbt"} @@ -341394,6 +345612,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4594/pulmona id: MONDO:0017871 name: bilateral massive adrenal hemorrhage subset: ordo_etiological_subtype {source="Orphanet:319205"} +synonym: "bilateral adrenal haemorrhage" EXACT OMO:0003005 [] synonym: "bilateral adrenal hemorrhage" EXACT [Orphanet:319205] synonym: "BMAH" EXACT ABBREVIATION [Orphanet:319205] xref: ICD10CM:E27.4 {source="Orphanet:319205/ntbt", source="Orphanet:319205"} @@ -341803,8 +346022,10 @@ name: inherited acute myeloid leukemia def: "An instance of acute myeloid leukemia that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] subset: ordo_disease {source="Orphanet:319465"} synonym: "familial AML" EXACT [Orphanet:319465] +synonym: "hereditary acute myeloid leukaemia" EXACT OMO:0003005 [] synonym: "hereditary acute myeloid leukemia" EXACT [MONDO:patterns/hereditary] synonym: "inherited AML" EXACT [Orphanet:319465] +synonym: "Pure familial acute myeloid leukaemia" EXACT OMO:0003005 [] synonym: "Pure familial acute myeloid leukemia" EXACT [Orphanet:319465] synonym: "Pure familial AML" EXACT [Orphanet:319465] xref: ICD10CM:C92.0 {source="Orphanet:319465/attributed", source="Orphanet:319465/ntbt", source="Orphanet:319465"} @@ -341824,10 +346045,13 @@ id: MONDO:0017894 name: acute myeloid leukemia with CEBPA somatic mutations def: "Acute myeloid leukemia with CEBPA somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the CEBPA gene in the bone marrow, blood and, rarely, other tissues. It can present with anemia, thrombocytopenia, and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly)." [Orphanet:319480] subset: ordo_disease {source="Orphanet:319480"} +synonym: "acute myeloid Leukaemia with mutated CEBPA" EXACT OMO:0003005 [] +synonym: "acute myeloid Leukaemia with non-germline mutated CEBPA" EXACT OMO:0003005 [] synonym: "acute myeloid Leukemia with mutated CEBPA" EXACT [NCIT:C82433] synonym: "acute myeloid Leukemia with non-germline mutated CEBPA" EXACT [NCIT:C82433] synonym: "AML with CEBPA somatic mutations" EXACT [Orphanet:319480] synonym: "AML with mutated CEBPA" EXACT [NCIT:C82433] +synonym: "non-familial acute myeloid leukaemia with mutated CEBPA" EXACT OMO:0003005 [] synonym: "non-familial acute myeloid leukemia with mutated CEBPA" EXACT [NCIT:C82433] xref: DOID:0081095 {source="MONDO:equivalentTo"} xref: ICD10CM:C92.0 {source="Orphanet:319480", source="Orphanet:319480/attributed", source="Orphanet:319480/ntbt"} @@ -342054,6 +346278,7 @@ synonym: "conjunctiva lymphoma" EXACT [MONDO:patterns/location] synonym: "conjunctiva primary organ-specific lymphoma" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "lymphoma of conjunctiva" EXACT [] synonym: "primary lymphoid conjunctival tumor" EXACT [Orphanet:319667] +synonym: "primary lymphoid conjunctival tumour" EXACT OMO:0003005 [] synonym: "primary organ-specific lymphoma of conjunctiva" EXACT [MONDO:design_pattern] xref: Orphanet:319667 {source="MONDO:equivalentTo"} xref: SCTID:763477007 {source="MONDO:equivalentTo"} @@ -342604,6 +346829,7 @@ subset: ordo_clinical_subtype {source="Orphanet:324703"} synonym: "ABeta amyloidosis, Piedmont type" EXACT [Orphanet:324703] synonym: "ABetaL34V-related amyloidosis" EXACT [Orphanet:324703] synonym: "HCHWA, Piedmont type" EXACT [Orphanet:324703] +synonym: "hereditary cerebral haemorrhage with amyloidosis, Piedmont type" EXACT OMO:0003005 [] synonym: "hereditary cerebral hemorrhage with amyloidosis, Piedmont type" EXACT [Orphanet:324703] xref: ICD10EXP:E85.4+ {source="Orphanet:324703", source="Orphanet:324703/attributed", source="Orphanet:324703/ntbt"} xref: ICD10EXP:I68.0* {source="Orphanet:324703", source="Orphanet:324703/attributed", source="Orphanet:324703/ntbt"} @@ -342619,6 +346845,7 @@ subset: ordo_clinical_subtype {source="Orphanet:324708"} synonym: "ABetaD23N amyloidosis" EXACT [Orphanet:324708] synonym: "cerebral amyloid angiopathy, APP-related, Iowa variant" EXACT [DOID:0070028, OMIM:605714] synonym: "HCHWA, Iowa type" EXACT [Orphanet:324708] +synonym: "hereditary cerebral haemorrhage with amyloidosis, Iowa type" EXACT OMO:0003005 [] synonym: "hereditary cerebral hemorrhage with amyloidosis, Iowa type" EXACT [Orphanet:324708] xref: ICD10EXP:E85.4+ {source="Orphanet:324708/attributed", source="Orphanet:324708/ntbt", source="Orphanet:324708"} xref: ICD10EXP:I68.0* {source="Orphanet:324708/attributed", source="Orphanet:324708/ntbt", source="Orphanet:324708"} @@ -342634,6 +346861,7 @@ subset: ordo_clinical_subtype {source="Orphanet:324713"} synonym: "ABetaE22K amyloidosis" EXACT [Orphanet:324713] synonym: "cerebral amyloid angiopathy, APP-related, Italian variant" EXACT [DOID:0070028, OMIM:605714] synonym: "HCHWA, Italian type" EXACT [Orphanet:324713] +synonym: "hereditary cerebral haemorrhage with amyloidosis, Italian type" EXACT OMO:0003005 [] synonym: "hereditary cerebral hemorrhage with amyloidosis, Italian type" EXACT [Orphanet:324713] xref: ICD10EXP:E85.4+ {source="Orphanet:324713", source="Orphanet:324713/attributed", source="Orphanet:324713/ntbt"} xref: ICD10EXP:I68.0* {source="Orphanet:324713", source="Orphanet:324713/attributed", source="Orphanet:324713/ntbt"} @@ -342650,6 +346878,7 @@ synonym: "ABeta amyloidosis, Flemish type" EXACT [Orphanet:324718] synonym: "ABetaA21G-related amyloidosis" EXACT [Orphanet:324718] synonym: "cerebral amyloid angiopathy, APP-related, Flemish variant" EXACT [DOID:0070028] synonym: "HCHWA, Flemish type" EXACT [Orphanet:324718] +synonym: "hereditary cerebral haemorrhage with amyloidosis, Flemish type" EXACT OMO:0003005 [] synonym: "hereditary cerebral hemorrhage with amyloidosis, Flemish type" EXACT [Orphanet:324718] xref: ICD10EXP:E85.4+ {source="Orphanet:324718", source="Orphanet:324718/attributed", source="Orphanet:324718/ntbt"} xref: ICD10EXP:I68.0* {source="Orphanet:324718", source="Orphanet:324718/attributed", source="Orphanet:324718/ntbt"} @@ -342665,6 +346894,7 @@ subset: ordo_clinical_subtype {source="Orphanet:324723"} synonym: "ABetaE22G amyloidosis" EXACT [Orphanet:324723] synonym: "cerebral amyloid angiopathy, APP-related, Arctic variant" EXACT [DOID:0070028] synonym: "HCHWA, Arctic type" EXACT [Orphanet:324723] +synonym: "hereditary cerebral haemorrhage with amyloidosis, Arctic type" EXACT OMO:0003005 [] synonym: "hereditary cerebral hemorrhage with amyloidosis, Arctic type" EXACT [Orphanet:324723] xref: ICD10EXP:E85.4+ {source="Orphanet:324723/attributed", source="Orphanet:324723/ntbt", source="Orphanet:324723"} xref: ICD10EXP:I68.0* {source="Orphanet:324723/attributed", source="Orphanet:324723/ntbt", source="Orphanet:324723"} @@ -343597,7 +347827,9 @@ name: classic neuroendocrine tumor of appendix def: "Classic endocrine tumor of the appendix is a type of endocrine tumor of the appendix, seen twice as frequently in females than in males, and usually presenting before the fifth decade of life. Classic endocrine tumor of the appendix is usually asymptomatic when located in the tip of the appendix (without obstruction), but acute appendicitis is often associated." [Orphanet:329977] subset: ordo_clinical_subtype {source="Orphanet:329977"} synonym: "classic appendiceal neuroendocrine tumor" EXACT [Orphanet:329977] +synonym: "classic appendiceal neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "classic appendix neuroendocrine tumor" EXACT [Orphanet:329977] +synonym: "classic appendix neuroendocrine tumour" EXACT OMO:0003005 [] xref: ICD10CM:D37.3 {source="Orphanet:329977", source="Orphanet:329977/ntbt"} xref: Orphanet:329977 {source="MONDO:equivalentTo"} xref: UMLS:CN204231 {source="MONDO:equivalentTo"} @@ -343609,8 +347841,10 @@ name: goblet cell carcinoma def: "An aggressive type of endocrine tumor of the appendix presenting equally in males and females in the fifth decade of life and manifesting with a palpable mass and abdominal pain or acute appendicitis. Metastasis to the ovaries, peritoneum or right colon has usually already occurred in half of patients at the time of diagnosis." [https://orcid.org/0000-0001-5208-3432, Orphanet:329984] subset: ordo_clinical_subtype {source="Orphanet:329984"} synonym: "appendix adenocarcinoid tumor" EXACT [NCIT:C3689] +synonym: "appendix adenocarcinoid tumour" EXACT OMO:0003005 [] synonym: "appendix goblet cell carcinoid" EXACT [MONDO:0006089] synonym: "appendix goblet cell carcinoid tumor" EXACT [NCIT:C3689] +synonym: "appendix goblet cell carcinoid tumour" EXACT OMO:0003005 [] synonym: "appendix mixed carcinoid-adenocarcinoma" EXACT [NCIT:C3689] synonym: "carcinoma of goblet cell" EXACT [MONDO:patterns/carcinoma] synonym: "GCC" EXACT ABBREVIATION [Orphanet:329984] @@ -343619,10 +347853,13 @@ synonym: "goblet cell carcinoid" EXACT [Orphanet:329984] synonym: "goblet cell carcinoid of appendix" EXACT [] synonym: "goblet cell carcinoid of the appendix" EXACT [] synonym: "goblet cell carcinoid tumor" EXACT [NCIT:C3689] +synonym: "goblet cell carcinoid tumour" EXACT OMO:0003005 [] synonym: "goblet cell carcinoma" EXACT [MONDO:patterns/location] synonym: "goblet cell tumor" EXACT [Orphanet:329984] +synonym: "goblet cell tumour" EXACT OMO:0003005 [] synonym: "mucinous carcinoid" RELATED [GARD:0010414] synonym: "mucinous carcinoid tumor" EXACT [NCIT:C3689] +synonym: "mucinous carcinoid tumour" EXACT OMO:0003005 [] xref: EFO:1000090 {source="MONDO:equivalentTo"} xref: ICD10CM:C18.1 {source="Orphanet:329984/ntbt", source="Orphanet:329984"} xref: ICDO:8243/3 {source="NCIT:C3689"} @@ -343728,6 +347965,7 @@ name: hemoglobin M disease subset: ordo_disease {source="Orphanet:330041"} synonym: "autosomal dominant methemoglobinemia" RELATED [GARD:0013007] synonym: "blue baby syndrome" RELATED [GARD:0013007] +synonym: "hereditary methemoglobinemia due to haemoglobin mutation" RELATED OMO:0003005 [] synonym: "hereditary methemoglobinemia due to hemoglobin mutation" RELATED [GARD:0013007] synonym: "M hemoglobinopathy" EXACT [Orphanet:330041] synonym: "methemoglobinemia, beta type" EXACT [OMIM:617971, OMIM:genemap2] @@ -343846,6 +348084,7 @@ subset: ordo_disease {source="Orphanet:331"} synonym: "deficiency, Laki-Lorand factor" EXACT [DOID:2211] synonym: "factor XIII deficiency" RELATED [DOID:2211] synonym: "factor XIII deficiency disease" EXACT [DOID:2211] +synonym: "fibrin stabilising factor deficiency" RELATED OMO:0003005 [] synonym: "fibrin stabilizing factor deficiency" RELATED [GARD:0010766] synonym: "fibrin-stabilizing factor deficiency" BROAD [Orphanet:331] synonym: "hereditary factor XIII deficiency disease" EXACT [DOID:2211] @@ -343927,6 +348166,7 @@ name: thalidomide embryopathy def: "A group of anomalies presented in infants as a result of in utero exposure (between 20-36 days after fertilization) to thalidomide, a sedative used in treatment of a range of conditions, including morning sickness, leprosy and multiple myeloma (see these terms). Thalidomine embryopathy is characterized by phocomelia, amelia, forelimb and hand plate anomalies (absence of humerus and/or forearm, femur and/or lower leg, thumb anomalies). Other anomalies include facial hemangiomas, and damages to ears (anotia, microtia), eyes (microphthalmia, anophthalmos, coloboma, strabismus), internal organs (kidney, heart, and gastrointestinal tract), genitalia, and heart. Infant mortality associated with thalidomide embryopathy is estimated to be as high as 40%. Thalidomide is contraindicated in pregnancy and pregnancy prevention is recommended in women under treatment." [Orphanet:3312] subset: ordo_disease {source="Orphanet:3312"} synonym: "fetal thalidomide syndrome" EXACT [Orphanet:3312] +synonym: "foetal thalidomide syndrome" EXACT OMO:0003005 [] synonym: "thalidomide embryopathy syndrome" EXACT [NCIT:C99082] synonym: "thalidomide-induced birth defect" EXACT [NCIT:C99082] xref: ICD10CM:Q86.8 {source="Orphanet:3312", source="Orphanet:3312/ntbt"} @@ -344268,6 +348508,11 @@ synonym: "childhood liver cell carcinoma" RELATED [GARD:0009331] synonym: "childhood-onset HCC" EXACT [Orphanet:33402] synonym: "childhood-onset hepatocellular carcinoma" EXACT [Orphanet:33402] synonym: "hepatocellular cancer" BROAD [NCIT:C7955] +synonym: "paediatric carcinoma of liver cell" RELATED OMO:0003005 [] +synonym: "Paediatric carcinoma of the liver cell" EXACT OMO:0003005 [] +synonym: "paediatric HCC" EXACT OMO:0003005 [] +synonym: "paediatric hepatoma" RELATED OMO:0003005 [] +synonym: "paediatric liver cell carcinoma" RELATED OMO:0003005 [] synonym: "pediatric carcinoma of liver cell" RELATED [GARD:0009331] synonym: "Pediatric carcinoma of the liver cell" EXACT [NCIT:C7955] synonym: "pediatric HCC" EXACT [Orphanet:33402] @@ -344760,7 +349005,9 @@ subset: gard_rare subset: ordo_group_of_disorders {source="Orphanet:3394"} synonym: "connective tissue sarcoma" EXACT [NCIT:C9306] synonym: "malignant mesenchymal tumor" EXACT [Orphanet:3394] +synonym: "malignant mesenchymal tumour" EXACT OMO:0003005 [] synonym: "malignant soft tissue tumor" BROAD [Orphanet:3394] +synonym: "malignant soft tissue tumour" BROAD OMO:0003005 [] synonym: "non-Rhabdo. soft tissue sarcoma" EXACT [NCIT:C9306] synonym: "non-rhabdomyosarcoma soft tissue sarcoma, NOS" RELATED EXCLUDE [NCIT:C9306] synonym: "sarcoma of soft tissue" EXACT [NCIT:C9306] @@ -344790,14 +349037,18 @@ synonym: "epithelial neoplasm of the Thymus" EXACT [NCIT:C6450] synonym: "epithelial neoplasm of Thymus" EXACT [NCIT:C6450] synonym: "epithelial tumor of the Thymus" EXACT [NCIT:C6450] synonym: "epithelial tumor of Thymus" EXACT [NCIT:C6450] +synonym: "epithelial tumour of the Thymus" EXACT OMO:0003005 [] +synonym: "epithelial tumour of Thymus" EXACT OMO:0003005 [] synonym: "TEN" EXACT ABBREVIATION [Orphanet:3398] synonym: "Tet" RELATED [ONCOTREE:TET] synonym: "thymic epithelial tumor" EXACT [NCIT:C6450, Orphanet:3398] +synonym: "thymic epithelial tumour" EXACT OMO:0003005 [] synonym: "thymic epithelium neoplasm" EXACT [NCIT:C6450] synonym: "thymoma, adult" RELATED [GARD:0005201] synonym: "Thymus epithelial neoplasm" EXACT [NCIT:C6450] synonym: "thymus epithelial neoplasm" EXACT [MONDO:patterns/location] synonym: "Thymus epithelial tumor" EXACT [NCIT:C6450] +synonym: "Thymus epithelial tumour" EXACT OMO:0003005 [] xref: ICD10CM:C37 {source="Orphanet:3398", source="Orphanet:3398/ntbt"} xref: ICD10CM:D15.0 {source="Orphanet:3398", source="Orphanet:3398/ntbt", source="MONDO:directSiblingOf"} xref: MESH:C536905 {source="Orphanet:3398", source="MONDO:equivalentTo", source="Orphanet:3398/e"} @@ -345996,9 +350247,13 @@ name: vasoproliferative tumor of retina def: "Vasoproliferative tumor of the retina is a rare, benign, retinal vascular disease characterized by solitary or multiple, unilateral or bilateral, intra-retinal tumor(s), usually located in the peripheral infero-temporal quadrant, and often associated with sub- and intraretinal exudates, epiretinal membranes, exudative retinal detachment and cystoid macular edema, as well as, occasionally, retinal and vitreous hemorrhage. Patients may present with visual loss, floaters, and/or photopsia. Association with various conditions, such as retinitis pigmentosa, congenital retinal toxoplasmosis, retinopathy of prematurity, or coloboma, has been reported." [Orphanet:353356] subset: ordo_disease {source="Orphanet:353356"} synonym: "retinal vasoproliferative tumor" EXACT [Orphanet:353356] +synonym: "retinal vasoproliferative tumour" EXACT OMO:0003005 [] synonym: "vasoproliferative tumor of ocular fundus" EXACT [Orphanet:353356] synonym: "vasoproliferative tumor of the ocular fundus" EXACT [Orphanet:353356] synonym: "vasoproliferative tumor of the retina" RELATED [Orphanet:353356] +synonym: "vasoproliferative tumour of ocular fundus" EXACT OMO:0003005 [] +synonym: "vasoproliferative tumour of the ocular fundus" EXACT OMO:0003005 [] +synonym: "vasoproliferative tumour of the retina" RELATED OMO:0003005 [] synonym: "VPTR" EXACT ABBREVIATION [Orphanet:353356] xref: ICD10CM:D31.2 {source="Orphanet:353356/ntbt", source="Orphanet:353356"} xref: Orphanet:353356 {source="MONDO:equivalentTo"} @@ -346261,6 +350516,7 @@ synonym: "aHUS with DGKE deficiency" EXACT [Orphanet:357008] synonym: "atypical HUS with DGKE deficiency" EXACT [Orphanet:357008] synonym: "D-HUS with DGKE deficiency" EXACT [Orphanet:357008] synonym: "hemolytic-uremic syndrome without diarrhea with DGKE deficiency" EXACT [Orphanet:357008] +synonym: "hemolytic-uremic syndrome without diarrhoea with DGKE deficiency" EXACT OMO:0003005 [] xref: DOID:0080388 {source="MONDO:equivalentTo"} xref: ICD10CM:D58.8 {source="Orphanet:357008/attributed", source="Orphanet:357008/ntbt", source="Orphanet:357008"} xref: Orphanet:357008 {source="MONDO:equivalentTo"} @@ -346480,11 +350736,14 @@ synonym: "malignant germ cell neoplasm of ovary" EXACT [NCIT:C4514] synonym: "malignant germ cell neoplasm of the ovary" EXACT [NCIT:C4514] synonym: "malignant germ cell tumor of ovary" EXACT [NCIT:C4514] synonym: "malignant germ cell tumor of the ovary" EXACT [NCIT:C4514] +synonym: "malignant germ cell tumour of the ovary" EXACT OMO:0003005 [] synonym: "malignant ovarian germ cell neoplasm" EXACT [MONDO:0002231, NCIT:C4514] synonym: "malignant ovarian germ cell tumor" EXACT [DOID:2155, NCIT:C4514, Orphanet:35807] +synonym: "malignant ovarian germ cell tumour" EXACT OMO:0003005 [] synonym: "MOGCT" EXACT ABBREVIATION [Orphanet:35807] synonym: "ovarian germ cell cancer" EXACT [NCIT:C4514, Orphanet:35807] synonym: "ovary malignant germ cell tumor" EXACT [MONDO:patterns/location] +synonym: "ovary malignant germ cell tumour" EXACT OMO:0003005 [] xref: DOID:2155 {source="MONDO:equivalentTo"} xref: ICD10CM:C56 {source="Orphanet:35807", source="Orphanet:35807/ntbt"} xref: MESH:C562841 {source="DOID:2155"} @@ -346510,8 +350769,12 @@ synonym: "malignant ovarian SCST" EXACT [Orphanet:35808] synonym: "malignant ovarian Sex cord-stromal neoplasm" EXACT [NCIT:C8053] synonym: "malignant ovarian Sex cord-stromal tumor" EXACT [NCIT:C8053] synonym: "malignant ovarian sex cord-stromal tumor" EXACT [Orphanet:35808] +synonym: "malignant ovarian Sex cord-stromal tumour" EXACT OMO:0003005 [] +synonym: "malignant ovarian sex cord-stromal tumour" EXACT OMO:0003005 [] synonym: "malignant Sex cord-stromal tumor of ovary" EXACT [NCIT:C8053] synonym: "malignant Sex cord-stromal tumor of the ovary" EXACT [NCIT:C8053] +synonym: "malignant Sex cord-stromal tumour of ovary" EXACT OMO:0003005 [] +synonym: "malignant Sex cord-stromal tumour of the ovary" EXACT OMO:0003005 [] synonym: "ovarian sex cord-stromal tumor, malignant" EXACT [MONDO:patterns/malignant] xref: ICD10CM:C56 {source="Orphanet:35808/ntbt", source="Orphanet:35808"} xref: NCIT:C8053 {source="MONDO:equivalentTo"} @@ -346593,8 +350856,10 @@ synonym: "glioblastoma multiforme" EXACT [NCIT:C3058, Orphanet:360] synonym: "glioblastoma multiforme (disease)" EXACT [MONDO:0002498] synonym: "gliosarcoma (histologic variant)" RELATED [GARD:0002491] synonym: "grade IV adult astrocytic tumor" NARROW [DOID:3068, NCIT:C9094] +synonym: "grade IV adult astrocytic tumour" NARROW OMO:0003005 [] synonym: "grade IV astrocytic neoplasm" EXACT [NCIT:C3058] synonym: "grade IV astrocytic tumor" EXACT [NCIT:C3058] +synonym: "grade IV astrocytic tumour" EXACT OMO:0003005 [] synonym: "grade IV astrocytoma" EXACT [NCIT:C3058] synonym: "primary glioblastoma multiforme" EXACT [DOID:3068] synonym: "spongioblastoma multiforme" EXACT [DOID:3068, NCIT:C3058] @@ -346669,6 +350934,7 @@ name: staphylococcal scalded skin syndrome def: "A blistering skin disorder caused by exfoliative toxins produced by Staphylococcus aureus infection. The toxins cause the formation of bullae and diffuse skin desquamation. The lesions may be localized or generalized, far away from the initial site of infection." [NCIT:C85077] subset: ordo_disease {source="Orphanet:36236"} synonym: "dermatitis exfoliativa neonatorum" EXACT [DOID:9063] +synonym: "generalised exfoliative disease" EXACT OMO:0003005 [] synonym: "generalized exfoliative disease" EXACT [Orphanet:36236] synonym: "pemphigus neonatorum" EXACT [DOID:9063] synonym: "Ritter disease" EXACT [DOID:9063, MONDO:0005948] @@ -346842,6 +351108,7 @@ subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:363472"} synonym: "testicular and paratesticular tumor" EXACT [Orphanet:363472] +synonym: "testicular and paratesticular tumour" EXACT OMO:0003005 [] xref: Orphanet:363472 {source="MONDO:equivalentTo"} xref: UMLS:CN204698 {source="MONDO:equivalentTo"} is_a: MONDO:0005070 {source="Orphanet:363472"} ! neoplasm @@ -346960,8 +351227,11 @@ synonym: "extragonadal germ cell tumors, NOS" RELATED EXCLUDE [NCIT:C3918] synonym: "neoplasm of extragonadal germ cell" EXACT [NCIT:C3918] synonym: "neoplasm of the extragonadal germ cell" EXACT [NCIT:C3918] synonym: "primary extragonadal germ cell tumor" EXACT [NCIT:C3918] +synonym: "primary extragonadal germ cell tumour" EXACT OMO:0003005 [] synonym: "tumor of extragonadal germ cell" EXACT [NCIT:C3918] synonym: "tumor of the extragonadal germ cell" EXACT [NCIT:C3918] +synonym: "tumour of extragonadal germ cell" EXACT OMO:0003005 [] +synonym: "tumour of the extragonadal germ cell" EXACT OMO:0003005 [] xref: NCIT:C3918 {source="MONDO:equivalentTo"} xref: Orphanet:363579 {source="MONDO:equivalentTo"} xref: UMLS:C0262963 {source="MONDO:equivalentTo"} @@ -347163,6 +351433,7 @@ def: "A familial epilepsy syndrome in which family members display a seizure dis subset: ordo_disease {source="Orphanet:36387"} synonym: "epilepsy, generalized, with febrile seizures plus" EXACT [OMIMPS:604233] synonym: "GEFS+" EXACT [DOID:0060170, Orphanet:36387] +synonym: "generalised epilepsy with febrile seizures-plus" RELATED OMO:0003005 [] synonym: "generalized epilepsy with febrile seizures plus" EXACT CLINGEN_PREFERRED [] synonym: "generalized epilepsy with febrile seizures-plus" RELATED [Orphanet:36387] synonym: "genetic epilepsy with febrile seizures plus" EXACT CLINGEN_PREFERRED [https://www.clinicalgenome.org/affiliation/40005/, Orphanet:36387] @@ -347258,6 +351529,8 @@ subset: ordo_clinical_subtype {source="Orphanet:364013"} synonym: "IHF" EXACT ABBREVIATION [Orphanet:364013] synonym: "immune fetal edema" EXACT [Orphanet:364013] synonym: "immune fetal hydrops" EXACT [Orphanet:364013] +synonym: "immune foetal hydrops" EXACT OMO:0003005 [] +synonym: "immune foetal oedema" EXACT OMO:0003005 [] synonym: "immune HF" EXACT [Orphanet:364013] xref: ICD10CM:P56.0 {source="Orphanet:364013", source="Orphanet:364013/e"} xref: ICD9:773.3 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -347889,6 +352162,8 @@ subset: ordo_group_of_disorders {source="Orphanet:370068"} synonym: "FACS" EXACT ABBREVIATION [Orphanet:370068] synonym: "fetal AEDS" EXACT [Orphanet:370068] synonym: "fetal antiepileptic drug syndrome" EXACT [Orphanet:370068] +synonym: "foetal AEDS" EXACT OMO:0003005 [] +synonym: "foetal antiepileptic drug syndrome" EXACT OMO:0003005 [] xref: ICD10CM:Q86.8 {source="Orphanet:370068", source="Orphanet:370068/ntbt"} xref: Orphanet:370068 {source="MONDO:equivalentTo"} xref: UMLS:C1739111 {source="MONDO:equivalentTo", source="Orphanet:370068"} @@ -347997,11 +352272,15 @@ synonym: "EOE" EXACT ABBREVIATION [NCIT:C7135, Orphanet:370334] synonym: "Extra-osseous Ewing's sarcoma" EXACT [NCIT:C7135] synonym: "extraosseous Ewing sarcoma" EXACT [DOID:4232, NCIT:C7135, Orphanet:370334] synonym: "extraosseous Ewing tumor" EXACT [Orphanet:370334] +synonym: "extraosseous Ewing tumour" EXACT OMO:0003005 [] synonym: "extraosseous Ewing's sarcoma" EXACT [MONDO:0002925, NCIT:C7135] synonym: "extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumor" RELATED EXCLUDE [DOID:4232] +synonym: "extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumour" RELATED OMO:0003005 [] synonym: "extraosseous Ewing's tumor" EXACT [NCIT:C7135] +synonym: "extraosseous Ewing's tumour" EXACT OMO:0003005 [] synonym: "extraskeletal Ewing sarcoma" EXACT [NCIT:C7135] synonym: "extraskeletal Ewing tumor" EXACT [Orphanet:370334] +synonym: "extraskeletal Ewing tumour" EXACT OMO:0003005 [] synonym: "extraskeletal Ewing's sarcoma" EXACT [NCIT:C7135] xref: DOID:4232 {source="MONDO:equivalentTo"} xref: ICD10CM:C49.9 {source="Orphanet:370334/ntbt", source="Orphanet:370334"} @@ -348024,6 +352303,7 @@ comment: Other ontologies classify peripheral neuroepithelioma as a seprate clas subset: ordo_disease {source="Orphanet:370348"} synonym: "peripheral neuroectodermal neoplasm" EXACT [NCIT:C9341] synonym: "peripheral neuroectodermal tumor" EXACT [NCIT:C9341] +synonym: "peripheral neuroectodermal tumour" EXACT OMO:0003005 [] synonym: "peripheral neuroepithelioma" EXACT [NCIT:C9341] synonym: "peripheral PNET" EXACT [NCIT:C9341, Orphanet:370348] synonym: "peripheral primitive neuroectodermal neoplasm" EXACT [NCIT:C9341] @@ -349007,6 +353287,7 @@ synonym: "childhood myasthenia gravis" EXACT [Orphanet:391497] synonym: "juvenile acquired myasthenia" EXACT [Orphanet:391497] synonym: "juvenile autoimmune myasthenia gravis" EXACT [Orphanet:391497] synonym: "myasthenia gravis of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] +synonym: "paediatric myasthenia gravis" EXACT OMO:0003005 [] synonym: "pediatric myasthenia gravis" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] xref: ICD10CM:G70.0 {source="Orphanet:391497", source="Orphanet:391497/ntbt"} xref: Orphanet:391497 {source="MONDO:equivalentTo"} @@ -349038,8 +353319,7 @@ name: glomus tumor def: "A rare benign or malignant mesenchymal neoplasm arising from cells that resemble the modified smooth muscle cells of the glomus body. The majority of glomus tumors occur in the distal extremities." [NCIT:C3060] subset: ordo_disease {source="Orphanet:391651"} synonym: "glomus neoplasm" EXACT [DOID:2431, NCIT:C3060] -synonym: "glomus tumor" EXACT [NCIT:C3060] -synonym: "glomus tumor" EXACT [DOID:2431] +synonym: "glomus tumor" EXACT [DOID:2431, NCIT:C3060] xref: DOID:2431 {source="MONDO:equivalentTo"} xref: ICD10CM:D18.0 {source="Orphanet:391651", source="Orphanet:391651/ntbt"} xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -349210,6 +353490,8 @@ def: "Prion protein (PrP) systemic amyloidosis, previously known as chronic diar subset: ordo_disease {source="Orphanet:397606"} synonym: "chronic diarrhea with hereditary sensory and autonomic neuropathy" EXACT [Orphanet:397606] synonym: "chronic diarrhea with HSAN" EXACT [Orphanet:397606] +synonym: "chronic diarrhoea with hereditary sensory and autonomic neuropathy" EXACT OMO:0003005 [] +synonym: "chronic diarrhoea with HSAN" EXACT OMO:0003005 [] synonym: "prion protein systemic amyloidosis" EXACT [Orphanet:397606] xref: ICD10CM:G60.8 {source="Orphanet:397606/attributed", source="Orphanet:397606/ntbt", source="Orphanet:397606"} xref: Orphanet:397606 {source="MONDO:equivalentTo"} @@ -349411,6 +353693,7 @@ name: refractory celiac disease def: "Refractory celiac disease (RCD) is a complex autoimmune disorder much like the more common celiac disease but, unlike celiac disease, it is resistant or unresponsive to at least 12 months of treatment with a strict gluten-free diet. Gliadin, a component of the wheat storage protein gluten, together with similar proteins in barley and rye, are the villains that trigger the immune reaction in celiac disease. The diagnosis of RCD is made by exclusion, especially of any other disorder that can affect the huge number of thread-like projections that line the interior of the intestine (intestinal villi), such as intestinal lymphoma, Crohn's disease, small intestinal bacterial overgrowth or hypogammaglobulinemia." [https://rarediseases.org/rare-diseases/refractory-celiac-disease/] subset: ordo_disease {source="Orphanet:398063"} synonym: "intractable celiac sprue" EXACT [https://rarediseases.org/rare-diseases/refractory-celiac-disease/] +synonym: "intractable coeliac sprue" EXACT OMO:0003005 [] synonym: "refractory CD" EXACT [Orphanet:398063] synonym: "refractory sprue" EXACT [Orphanet:398063] synonym: "type I refractory sprue" NARROW [https://rarediseases.org/rare-diseases/refractory-celiac-disease/] @@ -349565,11 +353848,14 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:398934"} synonym: "epithelial cancer of ovary" EXACT [Orphanet:398934] synonym: "malignant ovarian epithelial tumor" EXACT [NCIT:C40026] +synonym: "malignant ovarian epithelial tumour" EXACT OMO:0003005 [] synonym: "malignant ovarian surface epithelial-stromal neoplasm" EXACT [DOID:2151, https://github.com/DiseaseOntology/HumanDiseaseOntology/issues/167, NCIT:C40026] synonym: "malignant ovarian surface epithelial-stromal tumor" EXACT [NCIT:C40026] +synonym: "malignant ovarian surface epithelial-stromal tumour" EXACT OMO:0003005 [] synonym: "ovarian epithelial cancer" EXACT [Orphanet:398934] synonym: "ovarian epithelial tumor, malignant" EXACT [MONDO:patterns/malignant] synonym: "ovarian malignant epithelial tumor" EXACT [Orphanet:398934] +synonym: "ovarian malignant epithelial tumour" EXACT OMO:0003005 [] synonym: "ovarian stromal cancer" EXACT [NCIT:C40026] xref: DOID:2151 {source="MONDO:equivalentTo"} xref: MESH:C538090 {source="MONDO:equivalentTo"} @@ -349592,6 +353878,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:398940"} synonym: "non-epithelial cancer of ovary" EXACT [Orphanet:398940] synonym: "ovarian malignant non-epithelial tumor" EXACT [Orphanet:398940] +synonym: "ovarian malignant non-epithelial tumour" EXACT OMO:0003005 [] synonym: "ovarian non-epithelial cancer" EXACT [Orphanet:398940] xref: Orphanet:398940 {source="MONDO:equivalentTo"} xref: UMLS:CN205032 {source="MONDO:equivalentTo"} @@ -350563,6 +354850,7 @@ name: acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2) def: "Acute myeloid leukemia with inv(3)(q21;q26.2) or t(3;3)(q21;q26.2) is a subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts in the bone marrow, blood and, rarely, other tissues. Bone marrow typically shows small, hypolobated megakaryocytes and multilineage dyslplasia. Patients typically present with leukocytosis, anemia, variable platelet counts and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). High resistance to conventional chemotherapy is reported." [Orphanet:402020] subset: gard_rare {source="GARD:0012759"} subset: ordo_disease {source="Orphanet:402020"} +synonym: "acute myeloid leukaemia with inv3(q21;q26.2) or t(3;3)(q21;q26.2)" RELATED OMO:0003005 [] synonym: "acute myeloid leukemia with inv3(q21;q26.2) or t(3;3)(q21;q26.2)" RELATED [Orphanet:402020] synonym: "AML with inv3(p21;q26.2) or t(3;3)(p21;q26.2)" EXACT [Orphanet:402020] synonym: "AML with inv3(q21;q26.2) or t(3;3)(q21;q26.2)" EXACT [Orphanet:402020] @@ -350657,6 +354945,8 @@ synonym: "acitretin embryopathy" RELATED [GARD:0000468] synonym: "Acitretine embryofetopathy" RELATED [MESH:C538169] synonym: "fetal acitretin syndrome" RELATED [GARD:0000468] synonym: "fetal acitretin/etretinate syndrome" EXACT [Orphanet:40366] +synonym: "foetal acitretin syndrome" RELATED OMO:0003005 [] +synonym: "foetal acitretin/etretinate syndrome" EXACT OMO:0003005 [] synonym: "retinoid embryopathy" EXACT [Orphanet:40366] xref: ICD10CM:Q86.8 {source="Orphanet:40366", source="Orphanet:40366/ntbt"} xref: MESH:C538169 {source="MONDO:equivalentTo"} @@ -350699,6 +354989,7 @@ id: MONDO:0018445 name: global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome subset: ordo_malformation_syndrome {source="Orphanet:404476"} synonym: "global developmental delay, lung cysts, overgrowth, and wilms tumor" EXACT [MONDO:0032647, OMIM:618272] +synonym: "global developmental delay, lung cysts, overgrowth, and wilms tumour" EXACT OMO:0003005 [] synonym: "GLOW" EXACT ABBREVIATION [OMIM:618272] synonym: "glow syndrome" EXACT [OMIM:618272, Orphanet:404476] synonym: "GLOW syndrome, somatic mosaic" EXACT [OMIM:618272, OMIM:genemap2] @@ -350943,6 +355234,7 @@ def: "Eales disease (ED) is an idiopathic, inflammatory retinal venous occlusive subset: gard_rare {source="GARD:0006309"} subset: ordo_disease {source="Orphanet:40923"} synonym: "idiopathic obliterative vasculopathy" RELATED [GARD:0006309] +synonym: "idiopathic recurrent vitreal haemorrhage" RELATED OMO:0003005 [] synonym: "idiopathic recurrent vitreal hemorrhage" RELATED [GARD:0006309] synonym: "idiopathic retinal perivasculitis" EXACT [Orphanet:40923] synonym: "idiopathic retinal vasculitis" EXACT [Orphanet:40923] @@ -351127,6 +355419,7 @@ name: generalized eruptive keratoacanthoma def: "Generalized eruptive keratoacanthoma (GEKA) is rare variant of keratoacanthoma (KA) that affects the skin and mucous membranes and which is characterized by a sudden generalized eruption of severely pruritic, hundreds to thousands of small follicular papules, often with a central keratotic plug." [Orphanet:411777] subset: ordo_disease {source="Orphanet:411777"} synonym: "GEKA" EXACT ABBREVIATION [Orphanet:411777] +synonym: "generalised eruptive keratoacanthomas of Grzybowski" EXACT OMO:0003005 [] synonym: "generalized eruptive keratoacanthomas of Grzybowski" EXACT [Orphanet:411777] synonym: "Grzybowski syndrome" EXACT [Orphanet:411777] xref: ICD10CM:L85.8 {source="Orphanet:411777/ntbt", source="Orphanet:411777"} @@ -351160,6 +355453,7 @@ synonym: "carbohydrate induced hyperlipemia" EXACT [DOID:3145] synonym: "coronary artery disease, Severe, Susceptibility to" RELATED [OMIM:617347] synonym: "dysbetalipoproteinemia" RELATED [GARD:0006703] synonym: "dysbetalipoproteinemia due to defect in apolipoprotein E-D" RELATED [OMIM:617347] +synonym: "dyslipidaemia type 3" EXACT OMO:0003005 [] synonym: "dyslipidemia type 3" EXACT [Orphanet:412] synonym: "familial dysbetalipoproteinemia" EXACT [Orphanet:412] synonym: "familial Hyperbeta- and Prebetalipoproteinemia" RELATED [OMIM:617347] @@ -351319,6 +355613,7 @@ def: "An esophageal carcinoma characterized by the absence of microscopic featur subset: ordo_disease {source="Orphanet:418951"} synonym: "esophageal undifferentiated carcinoma" EXACT [NCIT:C27422] synonym: "esophagus undifferentiated carcinoma" EXACT [MONDO:patterns/location] +synonym: "oesophagus undifferentiated carcinoma" EXACT OMO:0003005 [] synonym: "undifferentiated esophageal cancer" EXACT [NCIT:C27422] synonym: "undifferentiated esophageal carcinoma" EXACT [Orphanet:418951] xref: ICD10CM:C15.3 {source="Orphanet:418951/nd", source="Orphanet:418951"} @@ -351521,9 +355816,12 @@ name: malignant hyperthermia of anesthesia def: "A pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gasses such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, to stresses such as vigorous exercise and heat." [https://orcid.org/0000-0001-5208-3432, Orphanet:423] subset: clingen subset: ordo_disease {source="Orphanet:423"} +synonym: "anaesthesia related hyperthermia" EXACT OMO:0003005 [] synonym: "anesthesia related hyperthermia" EXACT [DOID:8545] +synonym: "hyperthermia of anaesthesia" EXACT OMO:0003005 [] synonym: "hyperthermia of anesthesia" EXACT [Orphanet:423] synonym: "malignant hyperpyrexia" EXACT [NCIT:C84869] +synonym: "malignant hyperpyrexia due to anaesthesia" EXACT OMO:0003005 [] synonym: "malignant hyperpyrexia due to anesthesia" EXACT [DOID:8545] synonym: "malignant hyperthermia" EXACT [MONDO:ambiguous] synonym: "malignant hyperthermia of anesthesia" EXACT CLINGEN_PREFERRED [] @@ -351740,6 +356038,7 @@ name: mesenchymal tumor of small intestine subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:423798"} synonym: "mesenchymal tumor of small bowel" EXACT [Orphanet:423798] +synonym: "mesenchymal tumour of small bowel" EXACT OMO:0003005 [] xref: Orphanet:423798 {source="MONDO:equivalentTo"} xref: UMLS:CN237511 {source="MONDO:equivalentTo"} is_a: MONDO:0004251 {source="Orphanet:423798"} ! small intestine neoplasm @@ -351804,11 +356103,14 @@ synonym: "neuroendocrine neoplasm of small intestine" EXACT [MONDO:design_patter synonym: "neuroendocrine neoplasm of the small intestine" EXACT [Orphanet:423975] synonym: "neuroendocrine tumor of small bowel" EXACT [Orphanet:423975] synonym: "neuroendocrine tumor of the small intestine" RELATED [Orphanet:423975] +synonym: "neuroendocrine tumour of small bowel" EXACT OMO:0003005 [] +synonym: "neuroendocrine tumour of the small intestine" RELATED OMO:0003005 [] synonym: "small intestinal neuroendocrine neoplasm" EXACT [NCIT:C5803] synonym: "small intestine NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "small intestine neuroendocrine neoplasm" EXACT [MONDO:patterns/location, NCIT:C5803] synonym: "small intestine neuroendocrine tumor" EXACT [DOID:4434, MONDO:patterns/neuroendocrine_neoplasm] synonym: "small intestine neuroendocrine tumor, well differentiated, low or intermediate grade" RELATED [MONDO:patterns/neuroendocrine_neoplasm] +synonym: "small intestine neuroendocrine tumour" EXACT OMO:0003005 [] xref: DOID:4434 {source="MONDO:equivalentTo"} xref: NCIT:C5803 {source="DOID:4434", source="MONDO:equivalentTo"} xref: Orphanet:423975 {source="MONDO:equivalentTo"} @@ -351827,6 +356129,7 @@ def: "A epithelial neoplasm that involves the vermiform appendix." [MONDO:patter subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:423982"} synonym: "appendiceal epithelial tumor" EXACT [Orphanet:423982] +synonym: "appendiceal epithelial tumour" EXACT OMO:0003005 [] synonym: "vermiform appendix epithelial neoplasm" EXACT [MONDO:patterns/location] xref: Orphanet:423982 {source="MONDO:equivalentTo"} xref: UMLS:CN237516 {source="MONDO:equivalentTo"} @@ -352979,7 +357282,9 @@ synonym: "alpha-cell hyperplasia with glucagonemia" EXACT [OMIM:619290] synonym: "Mahvash disease" EXACT [Orphanet:438274] synonym: "MVAH" EXACT ABBREVIATION [OMIM:619290] synonym: "nesidioblastosis alpha cell hyperplasia microglucagonoma and nonfunctioning islet cell tumor" EXACT [GARD:0010460] +synonym: "nesidioblastosis alpha cell hyperplasia microglucagonoma and nonfunctioning islet cell tumour" EXACT OMO:0003005 [] synonym: "nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor" EXACT [GARD:0010460] +synonym: "nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumour" EXACT OMO:0003005 [] xref: DOID:0112306 {source="MONDO:equivalentTo"} xref: ICD10CM:E16.3 {source="Orphanet:438274", source="Orphanet:438274/ntbt"} xref: OMIM:619290 {source="MONDO:equivalentTo"} @@ -353009,7 +357314,9 @@ id: MONDO:0018585 name: pediatric arterial ischemic stroke subset: ordo_clinical_syndrome {source="Orphanet:439175"} synonym: "childhood AIS" EXACT [Orphanet:439175] +synonym: "childhood arterial ischaemic stroke" EXACT OMO:0003005 [] synonym: "childhood arterial ischemic stroke" EXACT [Orphanet:439175] +synonym: "paediatric AIS" EXACT OMO:0003005 [] synonym: "pediatric AIS" EXACT [Orphanet:439175] xref: ICD10CM:I63.5 {source="Orphanet:439175", source="Orphanet:439175/ntbt"} xref: Orphanet:439175 {source="MONDO:equivalentTo"} @@ -353379,11 +357686,13 @@ def: "A thyroid hormone deficiency present from birth." [Orphanet:442] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:442"} synonym: "congenital goiter" RELATED [] +synonym: "congenital goitre" RELATED OMO:0003005 [] synonym: "congenital hypothyroidism" EXACT [MONDO:patterns/congenital] synonym: "congenital hypothyroidism not due to iodine deficiency" RELATED [] synonym: "congenital iodine deficiency syndrome" EXACT [] synonym: "cretinism" RELATED DEPRECATED [DOID:0050328] synonym: "fetal iodine deficiency syndrome" RELATED [] +synonym: "foetal iodine deficiency syndrome" RELATED OMO:0003005 [] synonym: "infantile hypothyroidism" RELATED [] xref: DOID:0050328 {source="MONDO:equivalentTo"} xref: ICD10CM:E00.0 {source="Orphanet:442/specific", source="Orphanet:442/btnt", source="Orphanet:442"} @@ -354219,6 +358528,8 @@ subset: ordo_disease {source="Orphanet:449"} synonym: "HBL" EXACT ABBREVIATION [DOID:687, NCIT:C3728] synonym: "hepatoblastoma" EXACT [NCIT:C3728] synonym: "hepatoblastoma, malignant" EXACT [NCIT:C3728] +synonym: "paediatric embryonal hepatoma" EXACT OMO:0003005 [] +synonym: "paediatric hepatoblastoma" EXACT OMO:0003005 [] synonym: "pediatric embryonal hepatoma" EXACT [NCIT:C3728] synonym: "pediatric hepatoblastoma" EXACT [NCIT:C3728] xref: DOID:687 {source="MONDO:equivalentTo"} @@ -354363,8 +358674,11 @@ subset: ordo_disease {source="Orphanet:449432"} synonym: "chronic sclerosing sialadenitis" EXACT [NCIT:C82887] synonym: "IgG4-related sialadenitis" EXACT [Orphanet:449432] synonym: "Kuttner tumor" EXACT [NCIT:C82887] +synonym: "Kuttner tumour" EXACT OMO:0003005 [] synonym: "Kuttner's tumor" EXACT [NCIT:C82887] +synonym: "Kuttner's tumour" EXACT OMO:0003005 [] synonym: "Küttner tumor" EXACT [Orphanet:449432] +synonym: "Küttner tumour" EXACT OMO:0003005 [] xref: ICD10CM:K11.2 {source="Orphanet:449432/ntbt", source="Orphanet:449432"} xref: NCIT:C82887 {source="MONDO:equivalentTo"} xref: Orphanet:449432 {source="MONDO:equivalentTo"} @@ -354613,10 +358927,12 @@ name: plasma cell leukemia def: "An aggressive plasma cell neoplasm characterized by the presence of neoplastic plasma cells in the peripheral blood. It is characterized by the presence of a circulating clonal plasma cell count that exceeds 2x10^9/L or is 20% of the leukocyte differential count." [NCIT:C3180] subset: gard_rare {source="GARD:0009373"} subset: ordo_disease {source="Orphanet:454714"} +synonym: "leukaemia plasmacytic" EXACT OMO:0003005 [] synonym: "leukemia plasmacytic" EXACT [NCIT:C3180] synonym: "leukemia, plasma cell" RELATED [GARD:0009373] synonym: "PCL" EXACT ABBREVIATION [Orphanet:454714] synonym: "plasma cell leukemia" EXACT [NCIT:C3180] +synonym: "plasmacytic leukaemia" EXACT OMO:0003005 [] synonym: "plasmacytic leukemia" EXACT [NCIT:C3180] xref: DOID:9513 {source="MONDO:equivalentTo", source="EFO:0006475"} xref: EFO:0006475 {source="MONDO:equivalentTo"} @@ -354777,6 +359093,8 @@ def: "An instance of neuroendocrine tumor of the small intestine that is caused subset: ordo_disease {source="Orphanet:456333"} synonym: "hereditary neuroendocrine tumor of small bowel" EXACT [Orphanet:456333] synonym: "hereditary neuroendocrine tumor of the small intestine" EXACT [MONDO:patterns/hereditary] +synonym: "hereditary neuroendocrine tumour of small bowel" EXACT OMO:0003005 [] +synonym: "hereditary neuroendocrine tumour of the small intestine" EXACT OMO:0003005 [] synonym: "hereditary small intestine neuroendocrine neoplasm" EXACT [MONDO:patterns/hereditary] xref: Orphanet:456333 {source="MONDO:equivalentTo"} xref: UMLS:CN237770 {source="MONDO:equivalentTo"} @@ -354967,6 +359285,7 @@ name: primary intralymphatic angioendothelioma def: "An intermediate, rarely metastasizing blood vessel neoplasm. It is characterized by the presence of lymphatic-like vascular channels and papillary endothelial proliferation." [NCIT:P378] subset: ordo_disease {source="Orphanet:458768"} synonym: "Dabska tumor" EXACT [NCIT:C7526, Orphanet:458768] +synonym: "Dabska tumour" EXACT OMO:0003005 [] synonym: "malignant endothelial papillary angioendothelioma" EXACT [NCIT:C7526] synonym: "papillary Endovascular angioendothelioma" EXACT [NCIT:C7526] synonym: "papillary intralymphatic angioendothelioma" EXACT [NCIT:C7526] @@ -355671,6 +359990,7 @@ def: "Any trimethylaminuria in which the cause of the disease is a mutation in t subset: ordo_disease {source="Orphanet:468726"} synonym: "fish malodor syndrome" RELATED [GARD:0006447] synonym: "fish odor syndrome" RELATED [GARD:0006447] +synonym: "fish odour syndrome" RELATED OMO:0003005 [] synonym: "fish-odor syndrome" RELATED [OMIM:602079] synonym: "stale fish syndrome" RELATED [GARD:0006447] synonym: "TMAU" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602079] @@ -355976,8 +360296,11 @@ name: pediatric multiple sclerosis def: "Pediatric multiple sclerosis (MS) is a rare multiple sclerosis variant characterized by the onset of multiple sclerosis (i.e. one or multiple episodes of clinical CNS symptoms consistent with acquired CNS demyelination, with radiologically proven dissemination of inflammatory lesions in space and time, following exclusion of other disorders) before the age of 18 years old. Pediatric MS patients present a predominantly relapsing-remitting course with first attack usually consisting of optic neuritis, transverse myelitis, acute disseminated encephalomyelitis and monofocal or polyfocal neurological deficits. A high burden of T2-hyperintense lesions on intial MRI, primarily of the supratentorial region and/or of the cervical spinal cord, has been reported." [Orphanet:477738] subset: gard_rare {source="GARD:0010443"} subset: ordo_disease {source="Orphanet:477738"} +synonym: "MS paediatric" RELATED OMO:0003005 [] synonym: "MS pediatric" RELATED [GARD:0010443] +synonym: "multiple sclerosis, paediatric" RELATED OMO:0003005 [] synonym: "multiple sclerosis, pediatric" RELATED [GARD:0010443] +synonym: "paediatric MS" RELATED OMO:0003005 [] synonym: "pediatric MS" RELATED [GARD:0010443] xref: Orphanet:477738 {source="MONDO:equivalentTo"} xref: UMLS:CN037005 {source="MONDO:equivalentTo"} @@ -356422,6 +360745,7 @@ subset: ordo_disease {source="Orphanet:480864"} synonym: "MECRCN" EXACT ABBREVIATION [OMIM:616878] synonym: "metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration" EXACT [OMIM:616878] synonym: "TANGO2 deficiency" EXACT [PMID:31339582] +synonym: "transport and golgi organisation protein 2 (TANGO2) deficiency" EXACT OMO:0003005 [] synonym: "transport and golgi organization protein 2 (TANGO2) deficiency" EXACT [PMID:31339582] xref: OMIM:616878 {source="MONDO:equivalentTo"} xref: Orphanet:480864 {source="MONDO:equivalentTo"} @@ -356951,11 +361275,16 @@ subset: gard_rare {source="GARD:0004509"} subset: ordo_disease {source="Orphanet:492"} synonym: "Pilar cyst" EXACT [NCIT:C27125] synonym: "Pilar tumor" EXACT [NCIT:C27125] +synonym: "Pilar tumour" EXACT OMO:0003005 [] synonym: "proliferating pilar cyst" RELATED [GARD:0004509] synonym: "proliferating pilar cystic tumor" RELATED [ONCOTREE:PPCT] +synonym: "proliferating pilar cystic tumour" RELATED OMO:0003005 [] synonym: "proliferating Pilar tumor" EXACT [NCIT:C27125] +synonym: "proliferating Pilar tumour" EXACT OMO:0003005 [] synonym: "proliferating trichilemmal tumor" EXACT [NCIT:C27125] +synonym: "proliferating trichilemmal tumour" EXACT OMO:0003005 [] synonym: "proliferating Tricholemmal tumor" EXACT [NCIT:C27125] +synonym: "proliferating Tricholemmal tumour" EXACT OMO:0003005 [] xref: ICD10CM:L72.1 {source="Orphanet:492", source="Orphanet:492/ntbt"} xref: ICDO:8103/0 {source="NCIT:C27125"} xref: ICDO:8103/1 {source="NCIT:C27125"} @@ -357002,11 +361331,13 @@ subset: ordo_disease {source="Orphanet:49382"} synonym: "ACHM" EXACT ABBREVIATION [DOID:13911, Orphanet:49382] synonym: "achromatopsia" EXACT CLINGEN_PREFERRED [] synonym: "complete or incomplete color blindness" EXACT [Orphanet:49382] +synonym: "complete or incomplete colour blindness" EXACT OMO:0003005 [] synonym: "monochromatism" EXACT [DOID:13911] synonym: "Pingelapese blindness" EXACT [Orphanet:49382] synonym: "Rod monochromacy" EXACT [Orphanet:49382] synonym: "Rod monochromatism" EXACT [Orphanet:49382] synonym: "total color blindness" EXACT [Orphanet:49382] +synonym: "total colour blindness" EXACT OMO:0003005 [] xref: DOID:13911 {source="MONDO:equivalentTo"} xref: ICD10CM:H53.5 {source="Orphanet:49382/inclusion", source="Orphanet:49382/ntbt", source="Orphanet:49382"} xref: ICD10CM:H53.51 {source="DOID:13911", source="MONDO:equivalentTo"} @@ -357318,6 +361649,8 @@ id: MONDO:0018870 name: arterial calcification of infancy def: "Idiopathic arterial calcification of infancy is a rare condition characterized by extensive calcification and stenosis of the large and medium sized arteries." [Orphanet:51608] subset: ordo_disease {source="Orphanet:51608"} +synonym: "generalised arterial calcification in infancy" RELATED OMO:0003005 [] +synonym: "generalised arterial calcification of infancy" EXACT OMO:0003005 [] synonym: "generalized arterial calcification in infancy" RELATED [GARD:0008380] synonym: "generalized arterial calcification of infancy" EXACT [DOID:0050644] synonym: "idiopathic infantile arterial calcification" EXACT [DOID:0050644, Orphanet:51608] @@ -357342,8 +361675,12 @@ name: acute myelomonocytic leukemia M4 def: "An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors. (WHO, 2001)" [NCIT:C7463] subset: gard_rare subset: ordo_disease {source="Orphanet:517"} +synonym: "acute M4 myeloid leukaemia" EXACT OMO:0003005 [] synonym: "acute M4 myeloid leukemia" EXACT [NCIT:C7463] +synonym: "acute myeloblastic leukaemia type 4" RELATED OMO:0003005 [] synonym: "acute myeloblastic leukemia type 4" RELATED [GARD:0000529] +synonym: "acute myelomonocytic leukaemia" EXACT OMO:0003005 [] +synonym: "acute myelomonocytic leukaemia (FAB type M4)" EXACT OMO:0003005 [] synonym: "acute myelomonocytic leukemia" EXACT [NCIT:C7463] synonym: "acute myelomonocytic leukemia (FAB type M4)" EXACT [NCIT:C7463] synonym: "AML M4" EXACT [GARD:0000529, Orphanet:517] @@ -357373,21 +361710,27 @@ name: acute megakaryoblastic leukemia def: "Acute megakaryoblastic leukemia (AMKL) is a form of acute myeloid leukemia (AML) that occurs predominantly in childhood and particularly in children with Down syndrome (DS-AMKL). Nonspecific symptoms may be irritability, weakness, and dizziness while specific symptoms include pallor, fever, mucocutaneous bleeding, hepatosplenomegaly, neurological manifestations and rarely lymphadenopathy. Acute panmyelosis with myelofibrosis may also be associated with AMKL. In contrast to DS-AMKL (around 80 % survival), non-DS-AMKL is an AML subgroup associated with poor prognosis." [Orphanet:518] subset: gard_rare {source="GARD:0000524"} subset: ordo_disease {source="Orphanet:518"} +synonym: "acute M7 myeloid leukaemia" EXACT OMO:0003005 [] synonym: "acute M7 myeloid leukemia" EXACT [NCIT:C3170] -synonym: "acute megakaryoblastic leukemia" EXACT [MONDO:0005222] -synonym: "acute megakaryoblastic leukemia" EXACT [MONDO:0004655, NCIT:C3170] +synonym: "acute megakaryoblastic leukaemia (FAB type M7)" EXACT OMO:0003005 [] +synonym: "acute megakaryoblastic leukemia" EXACT [MONDO:0004655, MONDO:0005222, NCIT:C3170] synonym: "acute megakaryoblastic leukemia (FAB type M7)" EXACT [DOID:8761, NCIT:C3170] synonym: "acute megakaryoblastic leukemia, FAB M7" EXACT [DOID:8761] +synonym: "acute megakaryocytic leukaemia" EXACT OMO:0003005 [] synonym: "acute megakaryocytic leukemia" EXACT [NCIT:C3170, Orphanet:518] synonym: "acute megakaryocytic leukemias" EXACT [DOID:8761, MTH:NOCODE] +synonym: "acute myeloblastic leukaemia type 7" RELATED OMO:0003005 [] synonym: "acute myeloblastic leukemia type 7" RELATED [GARD:0000524] +synonym: "acute myeloid leukaemia M7" EXACT OMO:0003005 [] synonym: "acute myeloid leukemia M7" EXACT [Orphanet:518] synonym: "AMKL" EXACT ABBREVIATION [NCIT:C3170, Orphanet:518] synonym: "AML M7" EXACT [Orphanet:518] synonym: "FAB M7" EXACT [NCIT:C3170] synonym: "leukemia, megakaryocytic, malignant" EXACT [NCIT:C3170] +synonym: "megakaryocytic leukaemia" RELATED OMO:0003005 [] synonym: "megakaryocytic leukemia" RELATED [DOID:8761] synonym: "megakaryocytic myelosis" EXACT [DOID:8761] +synonym: "thrombocytic leukaemia" EXACT OMO:0003005 [] synonym: "thrombocytic leukemia" EXACT [DOID:8761] xref: DOID:8761 {source="MONDO:equivalentTo"} xref: EFO:0003025 {source="MONDO:equivalentTo"} @@ -357433,20 +361776,30 @@ def: "Acute myeloid leukemia (AML) is a group of neoplasms arising from precurso subset: disease_grouping subset: gard_rare {source="GARD:0012757"} subset: ordo_group_of_disorders {source="Orphanet:519"} +synonym: "acute granulocytic leukaemia" EXACT OMO:0003005 [] synonym: "acute granulocytic leukemia" EXACT [NCIT:C3171] +synonym: "acute myeloblastic leukaemia" EXACT OMO:0003005 [] synonym: "acute myeloblastic leukemia" EXACT [DOID:9119, NCIT:C3171] +synonym: "acute myelocytic leukaemia" EXACT OMO:0003005 [] synonym: "acute myelocytic leukemia" EXACT [NCIT:C3171] +synonym: "acute myelogenous leukaemia" EXACT OMO:0003005 [] synonym: "acute myelogenous leukemia" EXACT [DOID:9119, NCIT:C3171, Orphanet:519] synonym: "acute myelogenous leukemias" EXACT [NCIT:C3171] +synonym: "acute myeloid leukaemia (AML)" EXACT OMO:0003005 [] synonym: "acute myeloid leukemia" EXACT CLINGEN_PREFERRED [NCIT:C3171] synonym: "acute myeloid leukemia (AML)" EXACT [NCIT:C3171] synonym: "acute myeloid leukemia, somatic" EXACT [OMIM:601626, OMIM:genemap2] +synonym: "acute non lymphoblastic leukaemia" RELATED OMO:0003005 [] synonym: "acute non lymphoblastic leukemia" RELATED [GARD:0000537] +synonym: "acute Nonlymphocytic leukaemia" EXACT OMO:0003005 [] +synonym: "acute nonlymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "acute Nonlymphocytic leukemia" EXACT [NCIT:C3171] synonym: "acute nonlymphocytic leukemia" EXACT [NCIT:C3171] synonym: "AML" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C3171, OMIM:601626, Orphanet:519] +synonym: "AML - acute myeloid leukaemia" EXACT OMO:0003005 [] synonym: "AML - acute myeloid leukemia" EXACT [DOID:9119, NCIT:C3171] synonym: "ANLL" EXACT ABBREVIATION [NCIT:C3171] +synonym: "hematopoeitic - acute Myleogenous leukaemia (AML)" EXACT OMO:0003005 [] synonym: "hematopoeitic - acute Myleogenous leukemia (AML)" EXACT [NCIT:C3171] synonym: "leukemia, acute myelogenous" RELATED [OMIM:601626] synonym: "leukemia, acute myeloid" RELATED [MONDO:Lexical, OMIM:601626] @@ -357509,6 +361862,7 @@ synonym: "Li-Fraumeni syndrome caused by mutation in TP53" EXACT [MONDO:design_p synonym: "Li-Fraumeni-like syndrome" RELATED [OMIM:151623] synonym: "sarcoma family syndrome of 51 and Fraumeni" RELATED [OMIM:151623] synonym: "sarcoma family syndrome of Li and Fraumeni" RELATED [GARD:0006902] +synonym: "sarcoma, breast, leukaemia and adrenal gland syndrome" EXACT OMO:0003005 [] synonym: "sarcoma, breast, leukemia and adrenal gland syndrome" EXACT [DOID:3012] synonym: "SBLA syndrome" EXACT [DOID:3012, OMIM:151623] synonym: "SBLA syndrome (sarcoma, breast, leukemia, and adrenal gland)" RELATED [GARD:0006902] @@ -357650,9 +362004,11 @@ synonym: "myelodysplastic syndrome, susceptibility to" RELATED [OMIM:614286] synonym: "myelodysplastic syndrome, unclassifiable" EXACT [doi:10.5772/intechopen.82532] synonym: "myelodysplastic syndrome/neoplasm" EXACT [NCIT:C3247] synonym: "myelodysplastic syndromes" EXACT [NCIT:C3247] +synonym: "oligoblastic leukaemia" EXACT OMO:0003005 [] synonym: "oligoblastic leukemia" EXACT [NCIT:C3247] synonym: "preleukemia" EXACT [NCIT:C3247] synonym: "smoldering leukemia" EXACT [NCIT:C3247] +synonym: "smouldering leukaemia" EXACT OMO:0003005 [] xref: DOID:0050908 {source="EFO:0000198", source="MONDO:equivalentTo"} xref: EFO:0000198 {source="MONDO:equivalentTo"} xref: ICD10CM:D37-D48 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} @@ -357720,8 +362076,10 @@ synonym: "Berardinelli lipodystrophy syndrome" EXACT [NCIT:C84594] synonym: "Berardinelli Seip syndrome" EXACT [NCIT:C84594] synonym: "Brunzell syndrome" EXACT [Orphanet:528] synonym: "BSCL" EXACT ABBREVIATION [Orphanet:528] +synonym: "congenital generalised lipodystrophy" RELATED OMO:0003005 [] synonym: "congenital generalized lipodystrophy" RELATED [NCIT:C84594] synonym: "GCL" EXACT ABBREVIATION [Orphanet:528] +synonym: "generalised congenital lipodystrophy" EXACT OMO:0003005 [] synonym: "generalized congenital lipodystrophy" EXACT [Orphanet:528] synonym: "Lawrence-Seip syndrome" RELATED [NCIT:C84594] synonym: "lipoatrophic diabetes" RELATED [Orphanet:528] @@ -358161,11 +362519,14 @@ def: "Follicular lymphoma is a form of non-Hodgkin lymphoma characterized by a p subset: gard_rare {source="GARD:0002356"} subset: ordo_disease {source="Orphanet:545"} synonym: "follicle center lymphoma" EXACT [NCIT:C3209] +synonym: "follicle centre lymphoma" EXACT OMO:0003005 [] synonym: "follicular center cell lymphoma" EXACT [NCIT:C3209] +synonym: "follicular centre cell lymphoma" EXACT OMO:0003005 [] synonym: "follicular non-Hodgkin lymphoma" EXACT [NCIT:C3209] synonym: "follicular non-Hodgkin's lymphoma" EXACT [NCIT:C3209] synonym: "lymphoma, follicular" RELATED [GARD:0002356] synonym: "lymphoma, follicular center cell" EXACT [NCIT:C3209] +synonym: "lymphoma, follicular centre cell" EXACT OMO:0003005 [] synonym: "lymphoma, follicular, malignant" EXACT [NCIT:C3209] xref: DOID:0050873 {source="MONDO:equivalentTo"} xref: HGNC:990 {source="GARD:0002356"} @@ -358195,18 +362556,24 @@ name: craniopharyngioma def: "A benign, partly cystic, epithelial tumor of the sellar region, presumably derived from Rathke pouch epithelium. It affects mainly children and young adults. There are two clinicopathological forms: adamantinomatous craniopharyngioma and papillary craniopharyngioma. The most significant factor associated with recurrence is the extent of surgical resection, with lesions greater than 5 cm in diameter carrying a markedly worse prognosis. (Adapted from WHO)" [NCIT:C2964] subset: ordo_disease {source="Orphanet:54595"} synonym: "Adamantinomatous tumor" RELATED [GARD:0010486] +synonym: "Adamantinomatous tumour" RELATED OMO:0003005 [] synonym: "craniopharyngeal duct tumor" RELATED [GARD:0010486] +synonym: "craniopharyngeal duct tumour" RELATED OMO:0003005 [] synonym: "craniopharyngioma (morphologic abnormality)" EXACT [DOID:3840] synonym: "craniopharyngioma (WHO grade I)" EXACT [NCIT:C2964] synonym: "craniopharyngioma, benign" EXACT [NCIT:C2964] synonym: "cystoma" RELATED [NCIT:C2964] synonym: "Dysodontogenic epithelial tumor" RELATED [GARD:0010486] +synonym: "Dysodontogenic epithelial tumour" RELATED OMO:0003005 [] synonym: "neoplasm of Rathke's pouch" EXACT [DOID:3840, NCIT:C2964] synonym: "Rathke pouch neoplasm" EXACT [NCIT:C2964] synonym: "Rathke pouch tumor" EXACT [NCIT:C2964] +synonym: "Rathke pouch tumour" EXACT OMO:0003005 [] synonym: "Rathke's pouch neoplasm" EXACT [NCIT:C2964] synonym: "Rathke's pouch tumor" EXACT [NCIT:C2964] +synonym: "Rathke's pouch tumour" EXACT OMO:0003005 [] synonym: "tumor of Rathke's pouch" EXACT [NCIT:C2964] +synonym: "tumour of Rathke's pouch" EXACT OMO:0003005 [] xref: DOID:3840 {source="MONDO:equivalentTo"} xref: EFO:1000209 {source="MONDO:equivalentTo"} xref: ICD10CM:D44.4 {source="Orphanet:54595/specific", source="Orphanet:54595/e", source="Orphanet:54595"} @@ -358552,6 +362919,7 @@ synonym: "CAS" EXACT ABBREVIATION [Orphanet:56425] synonym: "chronic cold agglutinin disease" EXACT [Orphanet:56425] synonym: "cold agglutinin syndrome" EXACT [Orphanet:56425] synonym: "cold antibody disease" RELATED [GARD:0006130] +synonym: "cold antibody hemolytic anaemia" RELATED OMO:0003005 [] synonym: "cold antibody hemolytic anemia" RELATED [GARD:0006130] xref: ICD10CM:D59.1 {source="Orphanet:56425/ntbt", source="Orphanet:56425"} xref: Orphanet:56425 {source="MONDO:equivalentTo"} @@ -358818,6 +363186,7 @@ id: MONDO:0018935 name: hairy cell leukemia def: "Hairy cell leukemia (HCL) is a rare type of leukemia in which abnormal B-lymphocytes are present in the bone marrow, spleen and peripheral blood. It is a slowly progressive chronic lymphocytic leukemia (CLL). The name comes from the abnormally shaped lymphocytes with hair-like projections." [Orphanet:58017] subset: ordo_disease {source="Orphanet:58017"} +synonym: "classic hairy cell leukaemia" RELATED OMO:0003005 [] synonym: "classic hairy cell leukemia" RELATED [Orphanet:58017] synonym: "hairy cell leukemia" EXACT [MONDO:0006776, NCIT:C7402] synonym: "HCL" EXACT ABBREVIATION [NCIT:C7402, ONCOTREE:HCL, Orphanet:58017] @@ -358855,6 +363224,7 @@ def: "A rare benign bone-forming neoplasm usually arising from the spine. It is subset: ordo_disease {source="Orphanet:58040"} synonym: "giant osteoid osteoma" EXACT [NCIT:C3294] synonym: "ossifying giant cell tumor" EXACT [NCIT:C3294] +synonym: "ossifying giant cell tumour" EXACT OMO:0003005 [] synonym: "osteoblastoma" EXACT [MONDO:ambiguous, NCIT:C3294] synonym: "osteoblastoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "osteoblastoma, benign" EXACT [NCIT:C3294] @@ -358885,6 +363255,7 @@ name: mucopolysaccharidosis type 3 def: "Mucopolysaccharidosis type III (MPS III) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses and characterized by severe and rapid intellectual deterioration." [Orphanet:581] subset: ordo_disease {source="Orphanet:581"} synonym: "heparan sulfate sulfatase deficiency" EXACT [DOID:12801] +synonym: "heparan sulphate sulfatase deficiency" EXACT OMO:0003005 [] synonym: "MPS IIIA - Sanfilippo syndrome A" NARROW [DOID:12801] synonym: "MPS IIIB - Sanfilippo syndrome B" NARROW [DOID:12801] synonym: "MPS IIIC - Sanfilippo syndrome C" NARROW [DOID:12801] @@ -359112,6 +363483,7 @@ subset: ordo_group_of_disorders {source="Orphanet:59305"} synonym: "gestational trophoblastic disease" BROAD [NCIT:C4699] synonym: "gestational trophoblastic neoplasia" EXACT [DOID:3590, NCIT:C4699] synonym: "gestational trophoblastic tumor" EXACT [NCIT:C4699] +synonym: "gestational trophoblastic tumour" EXACT OMO:0003005 [] synonym: "GTN" EXACT ABBREVIATION [Orphanet:59305] synonym: "GTT" EXACT ABBREVIATION [NCIT:C4699] synonym: "hydatidiform mole" RELATED [DOID:3590] @@ -360359,20 +364731,30 @@ def: "An embryonal pediatric tumor of the kidney which may also be seen rarely i subset: ordo_disease {source="Orphanet:654"} synonym: "adult nephroblastoma" NARROW [DOID:2154] synonym: "adult renal Wilms' tumor" NARROW EXCLUDE [DOID:2154] +synonym: "adult renal Wilms' tumour" NARROW OMO:0003005 [] synonym: "childhood renal Wilms tumor" NARROW [DOID:2154] +synonym: "childhood renal Wilms tumour" NARROW OMO:0003005 [] synonym: "childhood renal Wilms' cancer" NARROW [DOID:2154] synonym: "embryonal nephroma" NARROW [NCIT:C40407] synonym: "kidney Wilms tumor" EXACT [NCIT:C40407] synonym: "nephroblastoma" EXACT [NCIT:C40407] synonym: "nephroblastoma, malignant" EXACT [NCIT:C40407] synonym: "nonanaplastic renal Wilm's tumor" NARROW [DOID:5176] +synonym: "nonanaplastic renal Wilm's tumour" NARROW OMO:0003005 [] synonym: "renal embryonic tumor" EXACT [Orphanet:654] +synonym: "renal embryonic tumour" EXACT OMO:0003005 [] synonym: "renal Wilms tumor" EXACT [NCIT:C40407] +synonym: "renal Wilms tumour" EXACT OMO:0003005 [] synonym: "renal Wilms' tumor" EXACT [NCIT:C40407] +synonym: "renal Wilms' tumour" EXACT OMO:0003005 [] synonym: "Wilms tumor" BROAD [Orphanet:654] synonym: "Wilms tumor of the kidney" EXACT [NCIT:C40407] +synonym: "Wilms tumour" BROAD OMO:0003005 [] +synonym: "Wilms tumour of the kidney" EXACT OMO:0003005 [] synonym: "Wilms' tumor" BROAD [NCIT:C40407] synonym: "Wilms' tumor of the kidney" EXACT [NCIT:C40407] +synonym: "Wilms' tumour" BROAD OMO:0003005 [] +synonym: "Wilms' tumour of the kidney" EXACT OMO:0003005 [] xref: DOID:2154 {source="MONDO:equivalentTo"} xref: DOID:5176 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: ICD10CM:C64 {source="Orphanet:654", source="Orphanet:654/index", source="Orphanet:654/ntbt"} @@ -360567,6 +364949,7 @@ def: "Angioedema is characterized by the occurrence of transitory and recurrent subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:658"} synonym: "angioneurotic edema" EXACT [Orphanet:658] +synonym: "angioneurotic oedema" EXACT OMO:0003005 [] synonym: "bradykinine-induced angioedema" EXACT [Orphanet:658] synonym: "non histamine-induced angioedema" EXACT [Orphanet:658] xref: ICD9:995.1 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -360735,6 +365118,10 @@ id: MONDO:0019020 name: PANDAS def: "PANDAS is an acronym for Pediatric Autoimmune Neuropsychiatric Disorders Associated with a group A beta-hemolytic Streptococcal infection and applied to a subgroup of children with obsessive-compulsive disorder (OCD) and/or tic disorders." [Orphanet:66624] subset: ordo_disease {source="Orphanet:66624"} +synonym: "paediatric autoimmune disorders associated with Streptococcus infections" EXACT OMO:0003005 [] +synonym: "paediatric autoimmune neuropsychiatric disorder associated with Streptococcus" RELATED OMO:0003005 [] +synonym: "paediatric autoimmune neuropsychiatric disorders associated with streptococcal infections" RELATED OMO:0003005 [] +synonym: "paediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections" EXACT OMO:0003005 [] synonym: "pediatric autoimmune disorders associated with Streptococcus infections" EXACT [Orphanet:66624] synonym: "pediatric autoimmune neuropsychiatric disorder associated with Streptococcus" RELATED [GARD:0007312] synonym: "pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections" RELATED [GARD:0007312] @@ -360932,7 +365319,9 @@ id: MONDO:0019031 name: thrombocytopenia with congenital dyserythropoietic anemia def: "Thrombocytopenia with congenital dyserythropoietic anemia (CDA) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia." [Orphanet:67044] subset: ordo_disease {source="Orphanet:67044"} +synonym: "congenital dyserythropoietic anaemia with thombocytopenia" EXACT OMO:0003005 [] synonym: "congenital dyserythropoietic anemia with thombocytopenia" EXACT [Orphanet:67044] +synonym: "X-linked congenital dyserythropoietic anaemia with thrombocytopenia" EXACT OMO:0003005 [] synonym: "X-linked congenital dyserythropoietic anemia with thrombocytopenia" EXACT [Orphanet:67044] synonym: "XDAT" EXACT ABBREVIATION [Orphanet:67044] xref: ICD10CM:D69.4 {source="Orphanet:67044", source="Orphanet:67044/attributed", source="Orphanet:67044/ntbt"} @@ -361474,19 +365863,27 @@ synonym: "bone neoplasm" EXACT [NCIT:C9343] synonym: "bone neoplasms" EXACT [NCIT:C9343] synonym: "bone tissue neoplasm" EXACT [] synonym: "bone tissue tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "bone tissue tumour" EXACT OMO:0003005 [] synonym: "bone tumor" EXACT [NCIT:C9343] synonym: "bone tumors" EXACT [NCIT:C9343] +synonym: "bone tumour" EXACT OMO:0003005 [] +synonym: "bone tumours" EXACT OMO:0003005 [] synonym: "neoplasm of bone" EXACT [NCIT:C9343] synonym: "neoplasm of bone tissue" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the bone" EXACT [NCIT:C9343] synonym: "osseous neoplasm" EXACT [NCIT:C9343] synonym: "osseous tumor" EXACT [NCIT:C9343] +synonym: "osseous tumour" EXACT OMO:0003005 [] synonym: "primary bone cancer" RELATED [GARD:0013223] synonym: "primary malignant neoplasm of bone" RELATED [GARD:0013223] synonym: "rare bone tumor" RELATED [Orphanet:68411] +synonym: "rare bone tumour" RELATED OMO:0003005 [] synonym: "tumor of bone" EXACT [NCIT:C9343] synonym: "tumor of bone tissue" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of the bone" EXACT [NCIT:C9343] +synonym: "tumour of bone" EXACT OMO:0003005 [] +synonym: "tumour of bone tissue" EXACT OMO:0003005 [] +synonym: "tumour of the bone" EXACT OMO:0003005 [] xref: ICD10CM:C40-C41 {source="MONDO:relatedTo", source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: NCIT:C12366 {source="ONCOTREE:BONE"} xref: NCIT:C9343 {source="MONDO:equivalentTo"} @@ -361931,16 +366328,18 @@ name: carcinoma of esophagus def: "Esophageal carcinoma (EC) is a tumor arising in the epithelial cells lining the esophagus and can be divided into two subtypes: esophageal squamous cell carcinoma (ESCC) and esophageal adenocarcinoma (EAC)." [Orphanet:70482] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:70482"} -synonym: "cancer of esophagus" NARROW [DOID:1107] synonym: "cancer of esophagus" NARROW [DOID:1107, NCIT:C3513] +synonym: "cancer of oesophagus" NARROW OMO:0003005 [] synonym: "cancer of the esophagus" NARROW [NCIT:C3513] -synonym: "carcinoma of esophagus" EXACT [DOID:1107] +synonym: "cancer of the oesophagus" NARROW OMO:0003005 [] synonym: "carcinoma of esophagus" EXACT [DOID:1107, MONDO:patterns/carcinoma, MTH:NOCODE, NCIT:C3513] synonym: "carcinoma of the esophagus" EXACT [NCIT:C3513] +synonym: "carcinoma of the oesophagus" EXACT OMO:0003005 [] synonym: "esophageal cancer" NARROW [NCIT:C3513] synonym: "esophageal cancer, NOS" NARROW [NCIT:C3513] synonym: "esophageal carcinoma" EXACT [MONDO:0001189, NCIT:C3513, Orphanet:70482] synonym: "esophagus carcinoma" EXACT [MONDO:patterns/location, NCIT:C3513] +synonym: "oesophagus carcinoma" EXACT OMO:0003005 [] xref: DOID:1107 {source="MONDO:equivalentTo"} xref: EFO:0002916 {source="MONDO:equivalentTo", source="DOID:1107"} xref: MedDRA:10030155 {source="Orphanet:70482", source="Orphanet:70482/e"} @@ -362912,8 +367311,7 @@ id: MONDO:0019139 name: acquired hemophilia def: "Acquired hemophilia is a bleeding disorder that interferes with the body's blood clotting process. Signs and symptoms include prolonged bleeding, frequent nosebleeds, bruising throughout the body, solid swellings of congealed blood (hematomas), hematuria, and gastrointestinal or urologic bleeding. Acquired hemophilia occurs when the body's immune system attacks and disables a certain protein that helps the blood clot. About half of the cases are associated with other conditions, such as pregnancy, autoimmune disease, cancer, skin diseases, or allergic reactions to medications." [GARD:0010350] subset: ordo_disease {source="Orphanet:73274"} -synonym: "acquired hemophilia" EXACT [MONDO:patterns/acquired] -synonym: "acquired hemophilia" EXACT [GARD:0010350] +synonym: "acquired hemophilia" EXACT [GARD:0010350, MONDO:patterns/acquired] synonym: "hemophilia, acquired" EXACT [GARD:0010350] xref: ICD10CM:D68.311 {source="MONDO:equivalentTo"} xref: ICD10CM:D68.4 {source="Orphanet:73274/e", source="Orphanet:73274"} @@ -363345,14 +367743,20 @@ id: MONDO:0019157 name: myelodysplastic syndrome with ring sideroblasts def: "Acquired idiopathic sideroblastic anemia is one of a group of disorders known as the myelodysplastic syndromes (MDS) characterized by ineffective haemopoiesis affecting one or more blood cell lineages (myeloid, erythroid or megakaryocytic) leading to peripheral blood cytopenias and an increased risk of developing leukemia. Acquired idiopathic sideroblastic anemia is now more commonly referred to as refractory anemia with ringed sideroblasts or the acronym RARS." [Orphanet:75564] subset: ordo_disease {source="Orphanet:75564"} +synonym: "acquired idiopathic sideroblastic anaemia" EXACT OMO:0003005 [] synonym: "acquired idiopathic sideroblastic anemia" EXACT [Orphanet:75564] synonym: "AISA" EXACT ABBREVIATION [Orphanet:75564] synonym: "MDS with ring sideroblasts" EXACT ABBREVIATION [doi:10.5772/intechopen.82532] synonym: "MDS-RS" EXACT ABBREVIATION [NCIT:C4036] synonym: "myelodysplastic syndrome with Ring sideroblasts" EXACT [NCIT:C4036] +synonym: "primary acquired sideroblastic anaemia" EXACT OMO:0003005 [] synonym: "primary acquired sideroblastic anemia" EXACT [Orphanet:75564] +synonym: "Pure sideroblastic Anaemia" EXACT OMO:0003005 [] synonym: "Pure sideroblastic Anemia" EXACT [NCIT:C4036] synonym: "RARS" EXACT ABBREVIATION [NCIT:C4036, Orphanet:75564] +synonym: "refractory Anaemia with Ring sideroblasts" EXACT OMO:0003005 [] +synonym: "refractory Anaemia with ringed sideroblasts" EXACT OMO:0003005 [] +synonym: "refractory anaemia with ringed sideroblasts" EXACT OMO:0003005 [] synonym: "refractory Anemia with Ring sideroblasts" EXACT [NCIT:C4036] synonym: "refractory Anemia with ringed sideroblasts" EXACT [NCIT:C4036] synonym: "refractory anemia with ringed sideroblasts" EXACT [Orphanet:75564] @@ -364180,10 +368584,14 @@ subset: disease_grouping subset: gard_rare {source="GARD:0005867"} subset: ordo_group_of_disorders {source="Orphanet:79088"} synonym: "centrifugal lipodystrophy (subtype)" RELATED [GARD:0005867] +synonym: "drug-induced localised lipodystrophy (subtype)" RELATED OMO:0003005 [] synonym: "drug-induced localized lipodystrophy (subtype)" RELATED [GARD:0005867] synonym: "focal lipodystrophy" EXACT [NCIT:C131814] +synonym: "idiopathic localised lipodystrophy (subtype)" RELATED OMO:0003005 [] synonym: "idiopathic localized lipodystrophy (subtype)" RELATED [GARD:0005867] +synonym: "panniculitis and localised lipodystrophy (subtype)" RELATED OMO:0003005 [] synonym: "panniculitis and localized lipodystrophy (subtype)" RELATED [GARD:0005867] +synonym: "pressure-induced localised lipoatrophy (subtype)" RELATED OMO:0003005 [] synonym: "pressure-induced localized lipoatrophy (subtype)" RELATED [GARD:0005867] xref: ICD10CM:E88.1 {source="Orphanet:79088/ntbt", source="Orphanet:79088"} xref: NCIT:C131814 {source="MONDO:equivalentTo"} @@ -364495,7 +368903,9 @@ synonym: "MCC" EXACT ABBREVIATION [ONCOTREE:MCC, Orphanet:79140] synonym: "Merkel cell cancer" EXACT [NCIT:C9231] synonym: "Merkel cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C9231, Orphanet:79140] synonym: "Merkel cell tumor" EXACT [NCIT:C9231] +synonym: "Merkel cell tumour" EXACT OMO:0003005 [] synonym: "Merkle tumors" RELATED [GARD:0009266] +synonym: "Merkle tumours" RELATED OMO:0003005 [] synonym: "neuroendocrine carcinoma of skin" EXACT [NCIT:C9231] synonym: "neuroendocrine carcinoma of the skin" EXACT [NCIT:C9231] synonym: "neuroendocrine skin carcinoma" EXACT [NCIT:C9231] @@ -364684,10 +369094,15 @@ comment: Editor note: check this subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79173"} synonym: "cytosolic methyl group transfer or sulfur amino acid metabolism disorder" EXACT [Orphanet:79173] +synonym: "cytosolic methyl group transfer or sulphur amino acid metabolism disorder" EXACT OMO:0003005 [] synonym: "disorder of methionine cycle and sulfur amino acid metabolism" RELATED [Orphanet:79173] +synonym: "disorder of methionine cycle and sulphur amino acid metabolism" RELATED OMO:0003005 [] synonym: "inborn error of sulfur amino acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic] +synonym: "inborn error of sulphur amino acid metabolic process" EXACT OMO:0003005 [] synonym: "inborn sulfur amino acid metabolic process disorder" EXACT [] +synonym: "inborn sulphur amino acid metabolic process disorder" EXACT OMO:0003005 [] synonym: "rare inborn error of sulfur amino acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic] +synonym: "rare inborn error of sulphur amino acid metabolic process" EXACT OMO:0003005 [] xref: ICD10CM:E72.1 {source="Orphanet:79173", source="Orphanet:79173/attributed", source="Orphanet:79173/ntbt"} xref: ICD9:270.4 {source="MONDO:i2s"} xref: Orphanet:79173 {source="MONDO:equivalentTo"} @@ -366002,6 +370417,8 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79383"} synonym: "lymphatic edema" EXACT [DOID:4977] synonym: "lymphatic edema (morphologic abnormality)" EXACT [DOID:4977] +synonym: "lymphatic oedema" EXACT OMO:0003005 [] +synonym: "lymphatic oedema (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "lymphoedema" EXACT [DOID:4977] synonym: "lymphoedema NOS" RELATED EXCLUDE [DOID:4977] xref: DOID:4977 {source="MONDO:equivalentTo"} @@ -366083,6 +370500,7 @@ name: premature aging syndrome def: "Changes in the organism associated with senescence, occurring at an accelerated rate." [MESH:D019588] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79389"} +synonym: "premature ageing" RELATED OMO:0003005 [] synonym: "premature aging" RELATED [Orphanet:79389] xref: MedDRA:10063493 {source="Orphanet:79389/e", source="Orphanet:79389"} xref: MESH:D019588 {source="Orphanet:79389/e", source="MONDO:equivalentTo", source="Orphanet:79389"} @@ -366165,14 +370583,18 @@ name: generalized junctional epidermolysis bullosa non-Herlitz type def: "Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement." [Orphanet:79402] subset: ordo_clinical_subtype {source="Orphanet:79402"} synonym: "GABEB" EXACT ABBREVIATION [DOID:0060738, Orphanet:79402] +synonym: "generalised atrophic benign epidermolysis bullosa" EXACT OMO:0003005 [] +synonym: "generalised junctional epidermolysis bullosa, non-Herlitz type" EXACT OMO:0003005 [] synonym: "generalized atrophic benign epidermolysis bullosa" EXACT [DOID:0060738, Orphanet:79402] synonym: "generalized junctional epidermolysis bullosa, non-Herlitz type" EXACT [DOID:0060738] +synonym: "JEB, generalised intermediate" EXACT OMO:0003005 [] synonym: "JEB, generalized intermediate" EXACT [Orphanet:79402] synonym: "JEB-nH gen" EXACT [DOID:0060738, Orphanet:79402] synonym: "JEN-nH" RELATED EXCLUDE [DOID:0060738] synonym: "junctional epidermolysis bullosa generalisata mitis" EXACT [DOID:0060738, Orphanet:79402] synonym: "junctional epidermolysis bullosa non-Herlitz type" RELATED [DOID:0060738] synonym: "junctional epidermolysis bullosa, Disentis type" EXACT [DOID:0060738, Orphanet:79402] +synonym: "junctional epidermolysis bullosa, generalised intermediate" RELATED OMO:0003005 [] synonym: "junctional epidermolysis bullosa, generalized intermediate" RELATED [Orphanet:79402] xref: DOID:0060738 {source="MONDO:equivalentTo"} xref: ICD10CM:Q81.8 {source="Orphanet:79402", source="Orphanet:79402/attributed", source="Orphanet:79402/ntbt", source="DOID:0060738"} @@ -366626,6 +371048,7 @@ synonym: "Gardner syndrome" EXACT [NCIT:C6728] synonym: "Gardner's syndrome" EXACT [NCIT:C6728] synonym: "intestinal polyposis, osteomas, sebaceous cysts" RELATED [GARD:0006482] synonym: "polyposis coli and multiple hard and soft tissue tumors" RELATED [GARD:0006482] +synonym: "polyposis coli and multiple hard and soft tissue tumours" RELATED OMO:0003005 [] xref: ICD10CM:D12.6 {source="Orphanet:79665/attributed", source="Orphanet:79665/ntbt", source="Orphanet:79665"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10017727 {source="Orphanet:79665/e", source="Orphanet:79665"} @@ -366999,11 +371422,13 @@ name: hereditary spherocytosis def: "Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis." [Orphanet:822] subset: gard_rare {source="GARD:0006639"} subset: ordo_disease {source="Orphanet:822"} +synonym: "congenital spherocytic hemolytic anaemia" EXACT OMO:0003005 [] synonym: "congenital spherocytic hemolytic anemia" EXACT [DOID:12971] synonym: "congenital spherocytosis" RELATED [GARD:0006639] synonym: "hereditary spherocytosis" EXACT CLINGEN_PREFERRED [] synonym: "Minkowski Chauffard syndrome" EXACT [DOID:12971] synonym: "Minkowski-Chauffard disease" EXACT [Orphanet:822] +synonym: "spherocytic anaemia" EXACT OMO:0003005 [] synonym: "spherocytic anemia" EXACT [DOID:12971] xref: DOID:12971 {source="MONDO:equivalentTo"} xref: ICD10CM:D58.0 {source="Orphanet:822", source="MONDO:equivalentTo", source="Orphanet:822/specific", source="Orphanet:822/e", source="DOID:12971"} @@ -367449,13 +371874,18 @@ def: "Desmoplastic small round cell tumor (DSRCT) is an aggressive soft tissue c subset: gard_rare {source="GARD:0006265"} subset: ordo_disease {source="Orphanet:83469"} synonym: "Desmoplas. small round cell tumor" EXACT [NCIT:C8300] +synonym: "Desmoplas. small round cell tumour" EXACT OMO:0003005 [] synonym: "Desmoplastic small round cell tumor" EXACT [NCIT:C8300] synonym: "desmoplastic small round cell tumor" EXACT [NCIT:C8300] +synonym: "Desmoplastic small round cell tumour" EXACT OMO:0003005 [] synonym: "Desmoplastic small round-cell neoplasm" EXACT [NCIT:C8300] synonym: "Desmoplastic small round-cell tumor" EXACT [GARD:0006265, NCIT:C8300] +synonym: "Desmoplastic small round-cell tumour" EXACT OMO:0003005 [] synonym: "desmoplastic small-round-cell tumor" RELATED [ONCOTREE:DSRCT] +synonym: "desmoplastic small-round-cell tumour" RELATED OMO:0003005 [] synonym: "DSRCT" EXACT ABBREVIATION [NCIT:C8300, Orphanet:83469] synonym: "Polyphenotypic small round cell tumor" EXACT [NCIT:C8300] +synonym: "Polyphenotypic small round cell tumour" EXACT OMO:0003005 [] xref: DOID:6785 {source="MONDO:equivalentTo", source="EFO:1000895", source="MONDO:obsolete"} xref: EFO:1000895 {source="MONDO:equivalentTo"} xref: HGNC:12796 {source="GARD:0006265"} @@ -367809,6 +372239,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:84"} synonym: "Fanconi anemia" EXACT CLINGEN_PREFERRED [] synonym: "Fanconi pancytopenia" EXACT [DOID:13636, Orphanet:84] synonym: "Fanconi panmyelopathy" EXACT [DOID:13636] +synonym: "Fanconi's anaemia" EXACT OMO:0003005 [] synonym: "Fanconi's anemia" EXACT [DOID:13636] synonym: "pancytopenia, congenital" EXACT [NCIT:C62505] synonym: "Panmyelopathy, Fanconi" EXACT [NCIT:C62505] @@ -367954,6 +372385,7 @@ def: "Isaac's syndrome is an immune-mediated peripheral motor neuron disorder ch subset: ordo_disease {source="Orphanet:84142"} synonym: "acquired neuromyotonia" EXACT [Orphanet:84142] synonym: "continuous muscle fiber activity syndrome" EXACT [Orphanet:84142] +synonym: "continuous muscle fibre activity syndrome" EXACT OMO:0003005 [] synonym: "Isaac's-Merten's syndrome" RELATED [GARD:0006793] synonym: "Isaac-Mertens syndrome" EXACT [Orphanet:84142] synonym: "Isaacs' syndrome" RELATED [GARD:0006793] @@ -367997,6 +372429,7 @@ def: "Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (B subset: ordo_disease {source="Orphanet:848"} synonym: "Beta thalassemia intermedia" RELATED [GARD:0000871] synonym: "Beta thalassemia minor" RELATED [GARD:0000871] +synonym: "erythroblastic anaemia" RELATED OMO:0003005 [] synonym: "erythroblastic anemia" RELATED [GARD:0000871] synonym: "thalassemia major" RELATED [NCIT:C34375] synonym: "thalassemia, Hispanic gamma-delta-beta" RELATED [GARD:0000871] @@ -368029,6 +372462,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:85"} synonym: "anemia, congenital dyserythropoietic" EXACT [OMIMPS:224120] synonym: "CDA" EXACT ABBREVIATION [Orphanet:85] +synonym: "congenital dyshaematopoietic anaemia" EXACT OMO:0003005 [] synonym: "congenital dyshaematopoietic anemia" EXACT [DOID:1338] synonym: "dyserythropoietic anemia, congenital" RELATED [GARD:0001999] xref: DOID:1338 {source="MONDO:equivalentTo"} @@ -368141,6 +372575,7 @@ synonym: "idiopathic osteoporosis" EXACT [DOID:12559] synonym: "Ijo" EXACT [Orphanet:85193] synonym: "juvenile osteoporosis" EXACT [DOID:12559, Orphanet:85193] synonym: "osteoporosis, juvenile" RELATED [OMIM:259750] +synonym: "Paediatric osteoporosis" EXACT OMO:0003005 [] synonym: "Pediatric osteoporosis" EXACT [NCIT:C119996] xref: DOID:12559 {source="MONDO:equivalentTo"} xref: ICD9:733.02 {source="DOID:12559", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -368816,6 +373251,7 @@ subset: gard_rare {source="GARD:0010585"} subset: ordo_disease {source="Orphanet:86829"} synonym: "chronic neutrophilic leukemia" EXACT [NCIT:C3179] synonym: "CNL" RELATED ABBREVIATION [GARD:0010585, ONCOTREE:CNL] +synonym: "neutrophilic leukaemia" EXACT OMO:0003005 [] synonym: "neutrophilic leukemia" EXACT [NCIT:C3179] xref: DOID:0080187 {source="MONDO:equivalentTo"} xref: EFO:1000179 {source="MONDO:equivalentTo"} @@ -368883,6 +373319,8 @@ subset: ordo_disease {source="Orphanet:86839"} synonym: "MDS-EB" EXACT [NCIT:C7506] synonym: "myelodysplastic syndrome with Excess blasts" EXACT [NCIT:C7506] synonym: "RAEB" EXACT ABBREVIATION [NCIT:C7506] +synonym: "refractory Anaemia with an Excess of blasts" EXACT OMO:0003005 [] +synonym: "refractory Anaemia with Excess blasts" EXACT OMO:0003005 [] synonym: "refractory Anemia with an Excess of blasts" EXACT [NCIT:C7506] synonym: "refractory Anemia with Excess blasts" EXACT [NCIT:C7506] xref: EFO:0003811 {source="MONDO:equivalentTo"} @@ -368931,9 +373369,11 @@ id: MONDO:0019456 name: acute myeloid leukemia with multilineage dysplasia def: "An acute myeloid leukemia arising de novo and not as a result of treatment. It is characterized by the presence of myelodysplastic features in at least 50% of the cells of at least two hematopoietic cell lines. Patients often present with severe cytopenia." [NCIT:P378] subset: ordo_disease {source="Orphanet:86845"} +synonym: "acute myeloid leukaemia with myelodysplasia-related features" RELATED OMO:0003005 [] synonym: "acute myeloid leukemia with myelodysplasia-related features" RELATED [Orphanet:86845] synonym: "AML with multilineage dysplasia" EXACT [Orphanet:86845] synonym: "AML with myelodysplasia-related features" EXACT [Orphanet:86845] +synonym: "De novo acute myeloid leukaemia with multilineage dysplasia" EXACT OMO:0003005 [] synonym: "De novo acute myeloid leukemia with multilineage dysplasia" EXACT [NCIT:C9289] xref: ICDO:9895/3 {source="NCIT:C9289"} xref: NCIT:C9289 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -368952,10 +373392,16 @@ def: "An acute myeloid leukemia secondary to a myelodysplastic syndrome or thera subset: disease_grouping subset: gard_rare {source="GARD:0012762"} subset: ordo_group_of_disorders {source="Orphanet:86846"} +synonym: "Secondary Acute granulocytic Leukaemia" EXACT OMO:0003005 [] synonym: "Secondary Acute granulocytic Leukemia" EXACT [NCIT:C25765] +synonym: "Secondary Acute myeloblastic Leukaemia" EXACT OMO:0003005 [] synonym: "Secondary Acute myeloblastic Leukemia" EXACT [NCIT:C25765] +synonym: "Secondary Acute myelocytic Leukaemia" EXACT OMO:0003005 [] synonym: "Secondary Acute myelocytic Leukemia" EXACT [NCIT:C25765] +synonym: "Secondary Acute myelogenous Leukaemia" EXACT OMO:0003005 [] synonym: "Secondary Acute myelogenous Leukemia" EXACT [NCIT:C25765] +synonym: "secondary acute myeloid leukaemia" EXACT OMO:0003005 [] +synonym: "Secondary Acute myeloid Leukaemia (AML)" EXACT OMO:0003005 [] synonym: "secondary acute myeloid leukemia" EXACT [Orphanet:86846] synonym: "Secondary Acute myeloid Leukemia (AML)" EXACT [NCIT:C25765] synonym: "Secondary AGL" EXACT [NCIT:C25765] @@ -368975,7 +373421,9 @@ id: MONDO:0019458 name: acute basophilic leukemia def: "A rare acute myeloid leukemia in which the immature cells differentiate towards basophils." [NCIT:C3164] subset: ordo_disease {source="Orphanet:86849"} +synonym: "basophilic leukaemia" EXACT OMO:0003005 [] synonym: "basophilic leukemia" EXACT [NCIT:C3164] +synonym: "leukaemia basophilic" EXACT OMO:0003005 [] synonym: "leukemia basophilic" EXACT [NCIT:C3164] xref: DOID:0080795 {source="MONDO:equivalentTo"} xref: EFO:0003029 {source="MONDO:equivalentTo"} @@ -369004,15 +373452,21 @@ name: acute leukemia of ambiguous lineage def: "An acute leukemia in which the blasts lack sufficient evidence to classify as myeloid or lymphoid or they have morphologic and/or immunophenotypic characteristics of both myeloid and lymphoid cells. (WHO, 2001)" [NCIT:C7464] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:86851"} +synonym: "acute leukaemia of indeterminate lineage" EXACT OMO:0003005 [] +synonym: "acute leukaemia of undetermined lineage" RELATED OMO:0003005 [] synonym: "acute leukemia of ambiguous lineage" EXACT [NCIT:C7464] synonym: "acute leukemia of indeterminate lineage" EXACT [NCIT:C7464, Orphanet:86851] synonym: "acute leukemia of undetermined lineage" RELATED [GARD:0008638] synonym: "ALL with myeloid markers" RELATED [GARD:0008638] synonym: "AML with lymphoid markers" RELATED [GARD:0008638] synonym: "BAL" RELATED ABBREVIATION [GARD:0008638] +synonym: "biphenotypic acute leukaemia" RELATED OMO:0003005 [] synonym: "biphenotypic acute leukemia" RELATED [GARD:0008638] +synonym: "hybrid acute leukaemia" EXACT OMO:0003005 [] synonym: "hybrid acute leukemia" EXACT [Orphanet:86851] +synonym: "mixed lineage acute leukaemia" EXACT OMO:0003005 [] synonym: "mixed lineage acute leukemia" EXACT [Orphanet:86851] +synonym: "mixed phenotype acute leukaemia" RELATED OMO:0003005 [] synonym: "mixed phenotype acute leukemia" RELATED [Orphanet:86851] xref: ICD10CM:C95.0 {source="Orphanet:86851/ntbt", source="Orphanet:86851"} xref: MedDRA:10067399 {source="Orphanet:86851", source="Orphanet:86851/e"} @@ -369030,6 +373484,7 @@ id: MONDO:0019461 name: B-cell prolymphocytic leukemia def: "A neoplasm of prolymphocytes affecting the blood, bone marrow, and spleen. It is characterized by prolymphocytes exceeding 55% of the lymphoid cells in the blood and profound splenomegaly." [MESH:D054403] subset: ordo_disease {source="Orphanet:86852"} +synonym: "B prolymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "B prolymphocytic leukemia" EXACT [NCIT:C4753] synonym: "B-cell prolymphocytic leukemia" EXACT [MONDO:0006099, NCIT:C4753] synonym: "B-PLL" EXACT [Orphanet:86852] @@ -369170,6 +373625,7 @@ def: "An aggressive immature hematologic neoplasm formerly known as blastic NK c subset: gard_rare subset: ordo_disease {source="Orphanet:86870"} synonym: "agranular CD4+ CD56+ hematodermic neoplasm/tumor" EXACT [NCIT:C7203] +synonym: "agranular CD4+ natural Killer cell leukaemia" EXACT OMO:0003005 [] synonym: "agranular CD4+ natural Killer cell leukemia" EXACT [NCIT:C7203] synonym: "blastic natural Killer leukemia/lymphoma" EXACT [NCIT:C7203] synonym: "blastic NK-cell lymphoma" EXACT [NCIT:C7203, Orphanet:86870] @@ -369202,14 +373658,20 @@ id: MONDO:0019468 name: T-cell prolymphocytic leukemia def: "A slow-growing type of leukemia (blood cancer) in which too many lymphocytes are found in the bone marrow and/or blood. The T-cell is specified as the defective cell line." [NCIT:C70649] subset: ordo_disease {source="Orphanet:86871"} +synonym: "chronic T-cell leukaemia" NARROW OMO:0003005 [] synonym: "chronic T-cell leukemia" NARROW DEPRECATED [NCIT:C70649] +synonym: "chronic T-cell lymphocytic leukaemia" NARROW OMO:0003005 [] synonym: "chronic T-cell lymphocytic leukemia" NARROW DEPRECATED [NCIT:C70649] synonym: "CLL, T-cell" EXACT [NCIT:C70649] synonym: "leukemia, T-cell, chronic" RELATED [GARD:0008224] +synonym: "T cell chronic lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "T cell chronic lymphocytic leukemia" EXACT [NCIT:C70649] synonym: "T cell CLL" EXACT [NCIT:C70649] +synonym: "T cell prolymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "T cell prolymphocytic leukemia" EXACT [NCIT:C4752] +synonym: "T prolymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "T prolymphocytic leukemia" EXACT [NCIT:C4752] +synonym: "T-cell chronic lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "T-cell chronic lymphocytic leukemia" EXACT [Orphanet:86871] synonym: "T-cell CLL" EXACT [NCIT:C70649] synonym: "T-cell prolymphocytic leukemia" EXACT [MONDO:0006441, NCIT:C4752] @@ -369240,23 +373702,32 @@ id: MONDO:0019469 name: T-cell large granular lymphocyte leukemia def: "T-cell large granular lymphocyte leukemia (T-cell LGL leukemia) is a lymphoproliferative malignancy that arises from the mature T-cell (CD3+) lineage." [Orphanet:86872] subset: ordo_disease {source="Orphanet:86872"} +synonym: "large cell granular lymphogenous leukaemia" EXACT OMO:0003005 [] synonym: "large cell granular lymphogenous leukemia" EXACT [NCIT:C4664] +synonym: "large cell granular lymphoid leukaemia" EXACT OMO:0003005 [] synonym: "large cell granular lymphoid leukemia" EXACT [NCIT:C4664] +synonym: "large granular lymphocyte leukaemia" RELATED OMO:0003005 [] synonym: "large granular lymphocyte leukemia" RELATED [GARD:0009812] +synonym: "large granular lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "large granular lymphocytic leukemia" EXACT [DOID:0050751, NCIT:C4664] synonym: "large granular lymphocytosis" EXACT [NCIT:C4664] synonym: "leukemia, large granular LYMPHOCYTIC, malignant" EXACT [NCIT:C4664] +synonym: "LGL leukaemia" RELATED OMO:0003005 [] synonym: "LGL leukemia" RELATED [GARD:0009812] synonym: "LGLL" EXACT ABBREVIATION [NCIT:C4664] synonym: "proliferation of large granular lymphocytes" EXACT [Orphanet:86872] synonym: "T gamma lymphoproliferative disorder" EXACT [NCIT:C4664] synonym: "T-cell large gran. lymph. leuk." EXACT [NCIT:C4664] synonym: "T-cell large granular lymphocyte leukemia" EXACT [NCIT:C4664] +synonym: "T-cell large granular lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "T-cell large granular lymphocytic leukemia" EXACT [NCIT:C4664] +synonym: "T-cell LGL leukaemia" EXACT OMO:0003005 [] synonym: "T-cell LGL leukemia" EXACT [Orphanet:86872] synonym: "T-gamma lymphoproliferative disorder" EXACT [NCIT:C4664] synonym: "T-LGL" EXACT [Orphanet:86872] +synonym: "T-LGL leukaemia" EXACT OMO:0003005 [] synonym: "T-LGL leukemia" EXACT [NCIT:C4664] +synonym: "Tgamma large granular lymphocyte leukaemia" EXACT OMO:0003005 [] synonym: "Tgamma large granular lymphocyte leukemia" EXACT [NCIT:C4664] synonym: "TLGL" RELATED ABBREVIATION [ONCOTREE:TLGL] xref: DOID:0050751 {source="MONDO:equivalentTo"} @@ -369286,8 +373757,11 @@ name: aggressive NK-cell leukemia def: "A rare, highly aggressive, Epstein-Barr virus-associated leukemia, also known as aggressive NK-cell leukemia/lymphoma; it may represent the leukemic counterpart of nasal type extranodal NK/T-cell lymphomas. It affects primarily teenagers and young adults. It is characterized by the systemic proliferation of NK cells in the peripheral blood, bone marrow, liver, and spleen." [NCIT:C8647] subset: gard_rare {source="GARD:0010493"} subset: ordo_disease {source="Orphanet:86873"} +synonym: "aggressive natural killer cell leukaemia" RELATED OMO:0003005 [] synonym: "aggressive natural killer cell leukemia" RELATED [GARD:0010493] +synonym: "aggressive NK cell leukaemia" RELATED OMO:0003005 [] synonym: "aggressive NK cell leukemia" RELATED [GARD:0010493] +synonym: "aggressive NK-cell leukaemia (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "aggressive NK-cell leukemia" EXACT [NCIT:C8647] synonym: "aggressive NK-cell leukemia (morphologic abnormality)" EXACT [DOID:1035] synonym: "aggressive NK-cell leukemia/lymphoma" EXACT [NCIT:C8647] @@ -369295,13 +373769,21 @@ synonym: "aggressive NK-cell lymphoma" EXACT [Orphanet:86873] synonym: "ANKCL" EXACT ABBREVIATION [Orphanet:86873] synonym: "ANKL" RELATED ABBREVIATION [GARD:0010493, ONCOTREE:ANKL] synonym: "large granular lymphocyte leukemia, NK-cell type" EXACT [DOID:1035, NCIT:C8647] +synonym: "leukaemia (disease) of natural killer cell" EXACT OMO:0003005 [] synonym: "leukemia (disease) of natural killer cell" EXACT [] +synonym: "natural Killer cell leukaemia" EXACT OMO:0003005 [] +synonym: "natural killer cell leukaemia" EXACT OMO:0003005 [] +synonym: "natural killer cell leukaemia (disease)" EXACT OMO:0003005 [] synonym: "natural Killer cell leukemia" EXACT [NCIT:C8647] synonym: "natural killer cell leukemia" EXACT [MONDO:0001010] synonym: "natural killer cell leukemia (disease)" EXACT [MONDO:patterns/location] +synonym: "NK cell leukaemia" EXACT OMO:0003005 [] synonym: "NK cell leukemia" EXACT [NCIT:C8647] +synonym: "NK-cell large granular lymphocyte leukaemia" EXACT OMO:0003005 [] synonym: "NK-cell large granular lymphocyte leukemia" EXACT [Orphanet:86873] +synonym: "NK-cell leukaemia" EXACT OMO:0003005 [] synonym: "NK-cell leukemia" EXACT [NCIT:C8647] +synonym: "NK-cell LGL leukaemia" EXACT OMO:0003005 [] synonym: "NK-cell LGL leukemia" EXACT [Orphanet:86873] xref: DOID:1035 {source="MONDO:equivalentTo"} xref: ICD10CM:C94.8 {source="DOID:1035"} @@ -369330,6 +373812,7 @@ name: adult T-cell leukemia/lymphoma def: "A peripheral (mature) T-cell neoplasm linked to the human T-cell leukemia virus type 1 (HTLV-1), adult T-cell leukemia/lymphoma is endemic in several regions of the world, in particular Japan, the Caribbean, and parts of Central Africa." [NCIT:C3184] subset: ordo_disease {source="Orphanet:86875"} synonym: "adult T cell lymphoma/leukemia" RELATED [NCIT:C3184] +synonym: "adult T-cell leukaemia" EXACT OMO:0003005 [] synonym: "adult T-cell leukemia" EXACT [DOID:0050523, GARD:0013103] synonym: "adult T-cell leukemia/lymphoma" EXACT [DOID:0050523, MONDO:0000347, NCIT:C3184] synonym: "adult T-cell leukemia/lymphoma (HTLV-1 positive)" RELATED [GARD:0013103] @@ -369338,6 +373821,7 @@ synonym: "adult T-cell lymphoma/leukemia" RELATED [NCIT:C3184] synonym: "ATLL" EXACT ABBREVIATION [Orphanet:86875] synonym: "HTLV-1 associated adult T-cell lymphoma/leukemia" RELATED [NCIT:C3184] synonym: "HTLV-I associated adult T-cell leukemia/lymphoma" RELATED [NCIT:C3184] +synonym: "T-cell leukaemia of adults" EXACT OMO:0003005 [] synonym: "T-cell leukemia of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] xref: DOID:0050523 {source="MONDO:equivalentTo"} xref: ICD10CM:C91.5 {source="Orphanet:86875/ntbt", source="Orphanet:86875", source="DOID:0050523"} @@ -369715,7 +374199,9 @@ name: primary adult heart tumor def: "Adult heart tumor refers to neoplasms of the heart that manifest in adults and generally present with a variety of non-specific manifestations (depending on tumor site and infiltration) such as weight loss, exhaustion, hemorrhagic pericardial effusion, heart failure, arrhythmias, and embolisms, or that can also be asymptomatic. In adults 75% of heart tumors are benign, with myxoma being the most common benign tumor (accounting for 50-70% of all primary heart tumors) and rhabdomyosarcoma comprising 75% of malignant heart tumors. Other malignant tumors of the heart include fibrosarcoma and leiomyosarcoma (see these terms)." [Orphanet:874] subset: ordo_disease {source="Orphanet:874"} synonym: "adult cardiac tumor" EXACT [Orphanet:874] +synonym: "adult cardiac tumour" EXACT OMO:0003005 [] synonym: "adult heart tumor" EXACT [Orphanet:874] +synonym: "adult heart tumour" EXACT OMO:0003005 [] xref: ICD10CM:C38.0 {source="Orphanet:874", source="Orphanet:874/ntbt"} xref: ICD10CM:D15.1 {source="Orphanet:874", source="MONDO:relatedTo", source="Orphanet:874/ntbt"} xref: Orphanet:874 {source="MONDO:equivalentTo"} @@ -369731,7 +374217,10 @@ name: primary pediatric heart tumor def: "Cardiac tumors are benign or malignant neoplasms arising primarily in the inner lining, muscle layer, or the surrounding pericardium of the heart. They can be primary or metastatic." [Orphanet:875] subset: ordo_disease {source="Orphanet:875"} synonym: "Cardiac tumor of child" EXACT [Orphanet:875] +synonym: "Cardiac tumour of child" EXACT OMO:0003005 [] synonym: "heart tumor of child" EXACT [Orphanet:875] +synonym: "heart tumour of child" EXACT OMO:0003005 [] +synonym: "paediatric heart neoplasm" EXACT OMO:0003005 [] synonym: "pediatric heart neoplasm" EXACT [MONDO:cjm] xref: ICD10CM:C38.0 {source="Orphanet:875/ntbt", source="Orphanet:875"} xref: ICD10CM:D15.1 {source="Orphanet:875/ntbt", source="MONDO:relatedTo", source="Orphanet:875"} @@ -369756,6 +374245,7 @@ subset: ordo_group_of_disorders {source="Orphanet:877"} synonym: "APUDoma" EXACT [Orphanet:877] synonym: "neuroendocrine neoplasm" EXACT [DOID:169, NCIT:C3809] synonym: "neuroendocrine tumor" EXACT [NCIT:C3809] +synonym: "neuroendocrine tumour" EXACT OMO:0003005 [] xref: DOID:169 {source="MONDO:equivalentTo"} xref: EFO:1001901 {source="MONDO:equivalentTo"} xref: ICD10CM:D3A-D3A {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} @@ -370331,13 +374821,17 @@ def: "Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also subset: gard_rare {source="GARD:0012794"} subset: ordo_disease {source="Orphanet:89842"} synonym: "autosomal recessive dystrophic epidermolysis bullosa generalisata mitis" EXACT [Orphanet:89842] +synonym: "autosomal recessive dystrophic epidermolysis bullosa, generalised other" EXACT OMO:0003005 [] synonym: "autosomal recessive dystrophic epidermolysis bullosa, generalized other" EXACT [Orphanet:89842] +synonym: "generalised mitis RDEB" EXACT OMO:0003005 [] synonym: "generalized mitis RDEB" EXACT [Orphanet:89842] synonym: "RDEB generalisata mitis" EXACT [Orphanet:89842] +synonym: "RDEB, generalised intermediate" EXACT OMO:0003005 [] synonym: "RDEB, generalized intermediate" EXACT [Orphanet:89842] synonym: "RDEB, non-Hallopeau-Siemens type" EXACT [Orphanet:89842] synonym: "RDEB-generalized other" EXACT [Orphanet:89842] synonym: "RDEB-O" EXACT [Orphanet:89842] +synonym: "recessive dystrophic epidermolysis bullosa, generalised intermediate" RELATED OMO:0003005 [] synonym: "recessive dystrophic epidermolysis bullosa, generalized intermediate" RELATED [Orphanet:89842] synonym: "recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type" EXACT [Orphanet:89842] xref: ICD10CM:Q81.2 {source="Orphanet:89842", source="Orphanet:89842/attributed", source="Orphanet:89842/ntbt"} @@ -370505,8 +374999,11 @@ synonym: "wAHA" EXACT [Orphanet:90033] synonym: "wAIHA" EXACT [Orphanet:90033] synonym: "warm AIHA" EXACT [Orphanet:90033] synonym: "warm antibody AIHA" RELATED [GARD:0007876] +synonym: "warm antibody autoimmune hemolytic anaemia" RELATED OMO:0003005 [] synonym: "warm antibody autoimmune hemolytic anemia" RELATED [GARD:0007876] +synonym: "warm antibody hemolytic anaemia" RELATED OMO:0003005 [] synonym: "warm antibody hemolytic anemia" RELATED [GARD:0007876] +synonym: "warm-reacting-antibody hemolytic anaemia" RELATED OMO:0003005 [] synonym: "warm-reacting-antibody hemolytic anemia" RELATED [GARD:0007876] xref: ICD10CM:D59.1 {source="Orphanet:90033/ntbt", source="Orphanet:90033"} xref: MedDRA:10047822 {source="Orphanet:90033", source="Orphanet:90033/e"} @@ -370521,6 +375018,7 @@ id: MONDO:0019533 name: paroxysmal cold hemoglobinuria def: "Paroxysmal cold hemoglobinuria (PCH) is a very rare subtype of autoimmune hemolytic anemia (AIHA), caused by the presence of cold-reacting autoantibodies in the blood and characterized by the sudden presence of hemoglobinuria, typically after exposure to cold temperatures." [Orphanet:90035] subset: ordo_disease {source="Orphanet:90035"} +synonym: "Donath-Landsteiner hemolytic anaemia" EXACT OMO:0003005 [] synonym: "Donath-Landsteiner hemolytic anemia" EXACT [Orphanet:90035] synonym: "Donath-Landsteiner syndrome" EXACT [Orphanet:90035] synonym: "hemoglobinuria paroxysmal cold" RELATED [GARD:0007335] @@ -370568,6 +375066,7 @@ subset: ordo_disease {source="Orphanet:90038"} synonym: "D+HUS" EXACT [Orphanet:90038] synonym: "D-plus hemolytic uremic syndrome (D+HUS)" RELATED [GARD:0006241] synonym: "hemolytic-uremic syndrome with diarrhea" EXACT [Orphanet:90038] +synonym: "hemolytic-uremic syndrome with diarrhoea" EXACT OMO:0003005 [] synonym: "Shiga-like toxin-associated HUS" EXACT [Orphanet:90038] synonym: "Sxt-HUS" EXACT [Orphanet:90038] synonym: "typical hemolytic-uremic syndrome" EXACT [Orphanet:90038] @@ -370638,6 +375137,7 @@ replaced_by: MONDO:0006952 id: MONDO:0019540 name: diffuse alveolar hemorrhage subset: ordo_clinical_situation {source="Orphanet:90060"} +synonym: "diffuse alveolar haemorrhage (disease)" EXACT OMO:0003005 [] synonym: "diffuse alveolar hemorrhage" EXACT [MONDO:ambiguous] synonym: "diffuse alveolar hemorrhage (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0025420 {source="MONDO:otherHierarchy"} @@ -370848,6 +375348,7 @@ intersection_of: has_characteristic MONDO:0700005 ! idiopathic id: MONDO:0019555 name: panniculitis and localized lipodystrophy subset: ordo_disease {source="Orphanet:90159"} +synonym: "panniculitis-induced localised lipodystrophy" RELATED OMO:0003005 [] synonym: "panniculitis-induced localized lipodystrophy" RELATED [Orphanet:90159] xref: ICD10CM:E88.1 {source="Orphanet:90159/ntbt", source="Orphanet:90159"} xref: Orphanet:90159 {source="MONDO:equivalentTo"} @@ -370957,13 +375458,19 @@ name: localized scleroderma def: "Localized scleroderma is the skin localized form of scleroderma characterized by fibrosis of the skin causing cutaneous plaques or strips." [Orphanet:90289] subset: ordo_disease {source="Orphanet:90289"} synonym: "circumscribed scleroderma" EXACT [DOID:8472, ICD9CM:701.0] +synonym: "localised fibrosing scleroderma" EXACT OMO:0003005 [] +synonym: "localised morphea" EXACT OMO:0003005 [] +synonym: "localised morphoea" EXACT OMO:0003005 [] +synonym: "localised scleroderma (disorder) [ambiguous]" EXACT OMO:0003005 [] synonym: "localized fibrosing scleroderma" EXACT [Orphanet:90289] synonym: "localized morphea" EXACT [DOID:8472] synonym: "localized morphoea" EXACT [DOID:8472] synonym: "localized scleroderma" EXACT [MONDO:0004581] synonym: "localized scleroderma (disorder) [ambiguous]" EXACT [DOID:8472] synonym: "morphea" EXACT [DOID:8472] +synonym: "Scleroderma, circumscribed or localised" EXACT OMO:0003005 [] synonym: "Scleroderma, circumscribed or localized" EXACT [DOID:8472] +synonym: "Scleroderma, localised" RELATED OMO:0003005 [] synonym: "Scleroderma, localized" RELATED [GARD:0007058] xref: DOID:8472 {source="MONDO:equivalentTo"} xref: ICD10CM:L94.0 {source="Orphanet:90289", source="DOID:8472", source="Orphanet:90289/e"} @@ -371028,6 +375535,7 @@ synonym: "congenital von willebrand disease" RELATED [] synonym: "congenital von willebrand's disease" EXACT [] synonym: "hereditary von Willebrand disease" EXACT CLINGEN_PREFERRED [] synonym: "hereditary von Willebrand disease (hereditary or acquired)" EXACT [MONDO:patterns/hereditary] +synonym: "vascular haemophilia" BROAD OMO:0003005 [] synonym: "vascular hemophilia" BROAD [DOID:12531] synonym: "vascular pseudohemophilia" EXACT [DOID:12531] synonym: "von Willebrand disease" BROAD [DOID:12531, Orphanet:903] @@ -371545,6 +376053,7 @@ subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:90776"} synonym: "46,XX DSD induced by fetal androgens excess" EXACT [Orphanet:90776] +synonym: "46,XX DSD induced by foetal androgens excess" EXACT OMO:0003005 [] xref: ICD10CM:E25.0 {source="Orphanet:90776", source="Orphanet:90776/attributed", source="Orphanet:90776/ntbt"} xref: Orphanet:90776 {source="MONDO:equivalentTo"} xref: UMLS:CN227655 {source="MONDO:equivalentTo"} @@ -371816,6 +376325,7 @@ def: "Zollinger-Ellison syndrome (ZES) is characterized by severe peptic disease subset: ordo_disease {source="Orphanet:913"} synonym: "gastrinoma" RELATED [Orphanet:913] synonym: "pancreatic ulcerogenic tumor syndrome" RELATED [GARD:0007918] +synonym: "pancreatic ulcerogenic tumour syndrome" RELATED OMO:0003005 [] synonym: "Z E syndrome" RELATED [GARD:0007918] synonym: "Z-E syndrome" RELATED [] synonym: "ZES" RELATED ABBREVIATION [GARD:0007918] @@ -372078,10 +376588,12 @@ subset: ordo_disease {source="Orphanet:91378"} synonym: "angioedema, hereditary" RELATED [GARD:0005979] synonym: "deficiency of C1 esterase inhibitor" RELATED [GARD:0005979] synonym: "familial angioneurotic edema" EXACT [Orphanet:91378] +synonym: "familial angioneurotic oedema" EXACT OMO:0003005 [] synonym: "HAE" EXACT ABBREVIATION [Orphanet:91378] synonym: "HANE" EXACT ABBREVIATION [DOID:14735] synonym: "hereditary angioedema" EXACT [DOID:14735, MONDO:patterns/hereditary] synonym: "hereditary angioneurotic edema" EXACT [Orphanet:91378] +synonym: "hereditary angioneurotic oedema" EXACT OMO:0003005 [] synonym: "hereditary bradykinine-induced angioedema" EXACT [Orphanet:91378] synonym: "hereditary non histamine-induced angioedema" EXACT [Orphanet:91378] xref: DOID:14735 {source="MONDO:equivalentTo"} @@ -372109,6 +376621,7 @@ subset: ordo_disease {source="Orphanet:91385"} synonym: "AAE" EXACT ABBREVIATION [Orphanet:91385] synonym: "acquired angioedema" EXACT [MONDO:patterns/acquired] synonym: "acquired angioneurotic edema" EXACT [Orphanet:91385] +synonym: "acquired angioneurotic oedema" EXACT OMO:0003005 [] synonym: "acquired bradykinine-induced angioedema" EXACT [Orphanet:91385] synonym: "acquired C1 inhibitor deficiency" EXACT [Orphanet:91385] synonym: "acquired non histamine-induced angioedema" EXACT [Orphanet:91385] @@ -372237,6 +376750,7 @@ synonym: "congenital retinal detachment" EXACT [Orphanet:91495] synonym: "ncRNA disease" EXACT [Orphanet:91495] synonym: "non-syndromic congenital retinal non-attachment" EXACT [Orphanet:91495] synonym: "persistent fetal vasculature syndrome" EXACT [Orphanet:91495] +synonym: "persistent foetal vasculature syndrome" EXACT OMO:0003005 [] synonym: "PFVS" EXACT ABBREVIATION [Orphanet:91495] synonym: "PHPV" EXACT ABBREVIATION [Orphanet:91495] xref: DOID:0060282 {source="MONDO:equivalentTo"} @@ -372348,6 +376862,7 @@ def: "A primary esophageal motor disorder characterized by loss of esophageal pe subset: ordo_disease {source="Orphanet:930"} synonym: "achalasia cardia" EXACT [Orphanet:930] synonym: "idiopathic achalasia of esophagus" EXACT [Orphanet:930] +synonym: "idiopathic achalasia of oesophagus" EXACT OMO:0003005 [] synonym: "primary achalasia" EXACT [Orphanet:930] xref: ICD10CM:K22.0 {source="Orphanet:930", source="Orphanet:930/e"} xref: MedDRA:10036669 {source="Orphanet:930", source="Orphanet:930/e"} @@ -373610,6 +378125,7 @@ property_value: IAO:0006012 "2023-10-01" xsd:string id: MONDO:0019725 name: pediatric systemic lupus erythematosus subset: ordo_disease {source="Orphanet:93552"} +synonym: "SLE, paediatric onset" EXACT OMO:0003005 [] synonym: "SLE, pediatric onset" EXACT [Orphanet:93552] xref: ICD10CM:M32.0 {source="Orphanet:93552/ntbt", source="Orphanet:93552"} xref: ICD10CM:M32.1 {source="Orphanet:93552/ntbt", source="Orphanet:93552"} @@ -373818,6 +378334,7 @@ synonym: "aHUS with H factor anomaly" EXACT [Orphanet:93579] synonym: "atypical HUS with H factor anomaly" EXACT [Orphanet:93579] synonym: "D-HUS with H factor anomaly" EXACT [Orphanet:93579] synonym: "hemolytic-uremic syndrome without diarrhea with H factor anomaly" EXACT [Orphanet:93579] +synonym: "hemolytic-uremic syndrome without diarrhoea with H factor anomaly" EXACT OMO:0003005 [] xref: ICD10CM:D58.8 {source="Orphanet:93579", source="Orphanet:93579/attributed", source="Orphanet:93579/ntbt"} xref: Orphanet:93579 {source="MONDO:equivalentObsolete"} xref: UMLS:CN206650 {source="MONDO:equivalentTo"} @@ -373833,6 +378350,7 @@ synonym: "aHUS with anti-factor H antibodies" EXACT [Orphanet:93581] synonym: "atypical HUS with anti-factor H antibodies" EXACT [Orphanet:93581] synonym: "D-HUS with anti-factor H antibodies" EXACT [Orphanet:93581] synonym: "hemolytic-uremic syndrome without diarrhea with anti-factor H antibodies" EXACT [Orphanet:93581] +synonym: "hemolytic-uremic syndrome without diarrhoea with anti-factor H antibodies" EXACT OMO:0003005 [] xref: ICD10CM:D58.8 {source="Orphanet:93581", source="Orphanet:93581/attributed", source="Orphanet:93581/ntbt"} xref: Orphanet:93581 {source="MONDO:equivalentTo"} xref: UMLS:CN206652 {source="MONDO:equivalentTo"} @@ -374027,6 +378545,7 @@ id: MONDO:0019753 name: localized Castleman disease def: "Localized Castleman disease (LCD) is the most common form of Castleman disease (CD) and it is usually asymptomatic or it may present with enlarged lymph nodes. LCD may be cured by surgical resection." [Orphanet:93685] subset: ordo_clinical_subtype {source="Orphanet:93685"} +synonym: "localised Angiofollicular lymphoid hyperplasia" EXACT OMO:0003005 [] synonym: "localized Angiofollicular lymphoid hyperplasia" EXACT [NCIT:C115200] synonym: "localized Castleman disease" EXACT [NCIT:C115200] synonym: "Unicentric angiofollicular ganglionic hyperplasia" RELATED [GARD:0006005] @@ -374532,6 +379051,7 @@ def: "Severe-immune mediated enteropathy describes a variety of intestinal disor subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:94075"} synonym: "immune-mediated protracted diarrhea of infancy" EXACT [Orphanet:94075] +synonym: "immune-mediated protracted diarrhoea of infancy" EXACT OMO:0003005 [] synonym: "severe immune-mediated enteropathy" EXACT [Orphanet:94075] xref: ICD9:279.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538273 {source="MONDO:equivalentTo"} @@ -374860,6 +379380,9 @@ synonym: "fetal hemorrhage into co-twin" EXACT [DOID:13576] synonym: "fetal transfusion syndrome" RELATED [GARD:0000325] synonym: "Feto-fetal transfusion syndrome" EXACT [Orphanet:95431] synonym: "Fetofetal transfusion syndrome" RELATED [GARD:0000325] +synonym: "foetal blood loss from foetal haemorrhage into co-twin" EXACT OMO:0003005 [] +synonym: "foetal haemorrhage into co-twin" EXACT OMO:0003005 [] +synonym: "foetal transfusion syndrome" RELATED OMO:0003005 [] synonym: "placental transfusion syndrome" EXACT [NCIT:C113824] synonym: "stuck Twin syndrome" EXACT [NCIT:C113824] synonym: "TTTS" RELATED ABBREVIATION [GARD:0000325] @@ -376668,31 +381191,46 @@ synonym: "growth hormone producing neoplasm of the pituitary" EXACT [NCIT:C7911] synonym: "growth hormone producing neoplasm of the pituitary gland" EXACT [NCIT:C7911] synonym: "growth hormone producing pituitary gland neoplasm" EXACT [NCIT:C7911] synonym: "growth hormone producing pituitary gland tumor" EXACT [NCIT:C7911] +synonym: "growth hormone producing pituitary gland tumour" EXACT OMO:0003005 [] synonym: "growth hormone producing pituitary neoplasm" EXACT [NCIT:C7911] synonym: "growth hormone producing pituitary tumor" EXACT [NCIT:C7911] +synonym: "growth hormone producing pituitary tumour" EXACT OMO:0003005 [] synonym: "growth hormone producing tumor" EXACT [NCIT:C7911] synonym: "growth hormone producing tumor of pituitary" EXACT [NCIT:C7911] synonym: "growth hormone producing tumor of pituitary gland" EXACT [NCIT:C7911] synonym: "growth hormone producing tumor of the pituitary" EXACT [NCIT:C7911] synonym: "growth hormone producing tumor of the pituitary gland" EXACT [NCIT:C7911] +synonym: "growth hormone producing tumour" EXACT OMO:0003005 [] +synonym: "growth hormone producing tumour of pituitary" EXACT OMO:0003005 [] +synonym: "growth hormone producing tumour of pituitary gland" EXACT OMO:0003005 [] +synonym: "growth hormone producing tumour of the pituitary" EXACT OMO:0003005 [] +synonym: "growth hormone producing tumour of the pituitary gland" EXACT OMO:0003005 [] synonym: "growth hormone secreting neoplasm of pituitary" EXACT [NCIT:C7911] synonym: "growth hormone secreting neoplasm of pituitary gland" EXACT [NCIT:C7911] synonym: "growth hormone secreting neoplasm of the pituitary" EXACT [NCIT:C7911] synonym: "growth hormone secreting neoplasm of the pituitary gland" EXACT [NCIT:C7911] synonym: "growth hormone secreting pituitary gland neoplasm" EXACT [NCIT:C7911] synonym: "growth hormone secreting pituitary gland tumor" EXACT [NCIT:C7911] +synonym: "growth hormone secreting pituitary gland tumour" EXACT OMO:0003005 [] synonym: "growth hormone secreting pituitary neoplasm" EXACT [NCIT:C7911] synonym: "growth hormone secreting pituitary tumor" EXACT [NCIT:C7911] +synonym: "growth hormone secreting pituitary tumour" EXACT OMO:0003005 [] synonym: "growth hormone secreting tumor of pituitary" EXACT [NCIT:C7911] synonym: "growth hormone secreting tumor of pituitary gland" EXACT [NCIT:C7911] synonym: "growth hormone secreting tumor of the pituitary" EXACT [NCIT:C7911] synonym: "growth hormone secreting tumor of the pituitary gland" EXACT [NCIT:C7911] +synonym: "growth hormone secreting tumour of pituitary" EXACT OMO:0003005 [] +synonym: "growth hormone secreting tumour of pituitary gland" EXACT OMO:0003005 [] +synonym: "growth hormone secreting tumour of the pituitary" EXACT OMO:0003005 [] +synonym: "growth hormone secreting tumour of the pituitary gland" EXACT OMO:0003005 [] synonym: "growth hormone-producing pituitary gland neoplasm" EXACT [NCIT:C7911] synonym: "Growth hormone-producing pituitary gland tumor" EXACT [NCIT:C7911] +synonym: "Growth hormone-producing pituitary gland tumour" EXACT OMO:0003005 [] synonym: "pituitary gland somatotropinoma" EXACT [NCIT:C7911] synonym: "pituitary somatotropinoma" EXACT [NCIT:C7911] synonym: "somatotroph neoplasm" EXACT [NCIT:C7911] synonym: "somatotroph tumor" EXACT [NCIT:C7911] +synonym: "somatotroph tumour" EXACT OMO:0003005 [] synonym: "somatotropinoma" EXACT [NCIT:C7911, Orphanet:96256] synonym: "somatotropinoma of pituitary" EXACT [NCIT:C7911] synonym: "somatotropinoma of pituitary gland" EXACT [NCIT:C7911] @@ -376985,6 +381523,7 @@ def: "Hereditary continuous muscle fiber activity is a rare, non-dystrophic myop subset: gard_rare subset: ordo_disease {source="Orphanet:972"} synonym: "continuous muscle fiber activity hereditary" EXACT [MONDO:0022857] +synonym: "continuous muscle fibre activity hereditary" EXACT OMO:0003005 [] xref: ICD10CM:G71.1 {source="Orphanet:972", source="Orphanet:972/attributed", source="Orphanet:972/ntbt"} xref: Orphanet:972 {source="MONDO:equivalentTo"} xref: UMLS:C1834559 {source="Orphanet:972", source="MONDO:equivalentTo", source="GARD:0001512"} @@ -377181,13 +381720,19 @@ subset: ordo_group_of_disorders {source="Orphanet:97253"} synonym: "islet cell tumor" EXACT [NCIT:C27720] synonym: "islet cell tumors - pancreas" EXACT [NCIT:C27720] synonym: "islet cell tumors of the pancreas" EXACT [NCIT:C27720] +synonym: "islet cell tumour" EXACT OMO:0003005 [] +synonym: "islet cell tumours - pancreas" EXACT OMO:0003005 [] +synonym: "islet cell tumours of the pancreas" EXACT OMO:0003005 [] synonym: "neuroendocrine tumor of pancreas" RELATED [Orphanet:97253] +synonym: "neuroendocrine tumour of pancreas" RELATED OMO:0003005 [] synonym: "pancreatic endocrine tumor" RELATED [GARD:0013034] +synonym: "pancreatic endocrine tumour" RELATED OMO:0003005 [] synonym: "pancreatic NET" EXACT [NCIT:C27720] synonym: "pancreatic neuroendocrine tumor" EXACT [MONDO:0006048, NCIT:C27720] synonym: "PANET" RELATED ABBREVIATION [ONCOTREE:PANET] synonym: "well differentiated pancreatic endocrine neoplasm" EXACT [NCIT:C27720] synonym: "well differentiated pancreatic endocrine tumor" EXACT [NCIT:C27720] +synonym: "well differentiated pancreatic endocrine tumour" EXACT OMO:0003005 [] synonym: "well-differentiated NEN of pancreas" EXACT [Orphanet:97253] synonym: "well-differentiated neuroendocrine neoplasm of pancreas" EXACT [Orphanet:97253] synonym: "well-differentiated pancreatic NEN" EXACT [Orphanet:97253] @@ -377212,7 +381757,9 @@ name: GRFoma def: "6cm and approximately 1/3 have metastasized at the time of diagnosis. It often co-occurs with Zollinger-Ellison syndrome or multiple endocrine neoplasia type 1 (MEN 1)." [Orphanet:97261] subset: ordo_disease {source="Orphanet:97261"} synonym: "GRF tumor" EXACT [Orphanet:97261] +synonym: "GRF tumour" EXACT OMO:0003005 [] synonym: "Growth hormone releasing factor tumor" EXACT [Orphanet:97261] +synonym: "Growth hormone releasing factor tumour" EXACT OMO:0003005 [] xref: ICD10CM:E16.8 {source="Orphanet:97261", source="Orphanet:97261/ntbt"} xref: Orphanet:97261 {source="MONDO:equivalentTo"} xref: UMLS:CN206877 {source="MONDO:equivalentTo"} @@ -377255,6 +381802,7 @@ def: "PPoma is a type of pancreatic endocrine tumor that hypersecretes pancreati subset: ordo_disease {source="Orphanet:97278"} synonym: "pancreatic polypeptide neoplasm" EXACT [NCIT:C67453] synonym: "pancreatic polypeptide tumor" EXACT [NCIT:C67453] +synonym: "pancreatic polypeptide tumour" EXACT OMO:0003005 [] synonym: "pancreatic polypeptidoma" EXACT [Orphanet:97278] xref: ICD10CM:E16.8 {source="Orphanet:97278", source="Orphanet:97278/ntbt"} xref: ICD9:239.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -377298,22 +381846,31 @@ name: VIPoma def: "VIPoma is an extremely rare type of pancreatic neuroendocrine tumor that secretes vasoactive intestinal polypeptide (VIP) leading to the manifestations of watery diarrhea, hypokalemia and achlorhydia or hypochhlorhydia (known as WDHA syndrome)." [Orphanet:97282] subset: ordo_disease {source="Orphanet:97282"} synonym: "Diarrheogenic islet cell tumor" EXACT [Orphanet:97282] +synonym: "Diarrheogenic islet cell tumour" EXACT OMO:0003005 [] synonym: "malignant vasoactive intestinal peptide-secreting tumor" EXACT [DOID:5574] +synonym: "malignant vasoactive intestinal peptide-secreting tumour" EXACT OMO:0003005 [] synonym: "pancreatic cholera" RELATED [GARD:0003787, Orphanet:97282] synonym: "pancreatic vipoma" RELATED [GARD:0005493] synonym: "vasoactive intestinal peptide (VIP) tumor" RELATED [GARD:0005493] +synonym: "vasoactive intestinal peptide (VIP) tumour" RELATED OMO:0003005 [] synonym: "vasoactive intestinal peptide producing neoplasm" EXACT [NCIT:C26749] synonym: "vasoactive intestinal peptide producing tumor" EXACT [NCIT:C26749] +synonym: "vasoactive intestinal peptide producing tumour" EXACT OMO:0003005 [] synonym: "vasoactive intestinal peptide secreting neoplasm" EXACT [NCIT:C26749] synonym: "vasoactive intestinal peptide-producing tumor" RELATED [GARD:0005493] +synonym: "vasoactive intestinal peptide-producing tumour" RELATED OMO:0003005 [] synonym: "vasoactive intestinal peptide-secreting tumor" EXACT [DOID:5574] +synonym: "vasoactive intestinal peptide-secreting tumour" EXACT OMO:0003005 [] synonym: "Verner-Morrison syndrome" EXACT [Orphanet:97282] synonym: "VIP producing neoplasm" EXACT [NCIT:C26749] synonym: "VIP- secreting neoplasm" EXACT [NCIT:C26749] synonym: "VIP- secreting tumor" EXACT [DOID:5574, NCIT:C26749] +synonym: "VIP- secreting tumour" EXACT OMO:0003005 [] synonym: "VIP-producing NET" EXACT [NCIT:C26749] synonym: "VIP-producing neuroendocrine tumor" EXACT [NCIT:C26749] +synonym: "VIP-producing neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "VIP-secreting tumor" EXACT [Orphanet:97282] +synonym: "VIP-secreting tumour" EXACT OMO:0003005 [] synonym: "VIPoma" EXACT [NCIT:C26749] synonym: "VIPoma, malignant" EXACT [DOID:5574] synonym: "watery diarrhea, hypokalemia, and achlorhydria syndrome" RELATED [GARD:0003787] @@ -377371,10 +381928,12 @@ def: "A neuroendocrine neoplasm that involves the bronchus." [MONDO:patterns/loc subset: ordo_disease {source="Orphanet:97287"} synonym: "bronchial NET" EXACT [Orphanet:97287] synonym: "bronchial neuroendocrine tumor" RELATED [Orphanet:97287] +synonym: "bronchial neuroendocrine tumour" RELATED OMO:0003005 [] synonym: "bronchus NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "bronchus neuroendocrine neoplasm" EXACT [MONDO:patterns/location] synonym: "bronchus neuroendocrine tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "bronchus neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm] +synonym: "bronchus neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "neuroendocrine neoplasm of bronchus" EXACT [MONDO:design_pattern, MONDO:patterns/neuroendocrine_neoplasm] xref: ICD10CM:D38.1 {source="Orphanet:97287/ntbt", source="Orphanet:97287"} xref: Orphanet:97287 {source="MONDO:equivalentTo"} @@ -377392,6 +381951,7 @@ synonym: "thymus NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "thymus neuroendocrine neoplasm" EXACT [MONDO:patterns/location] synonym: "thymus neuroendocrine tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "thymus neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm] +synonym: "thymus neuroendocrine tumour" EXACT OMO:0003005 [] xref: ICD10CM:D38.4 {source="Orphanet:97289", source="Orphanet:97289/ntbt"} xref: ONCOTREE:TNET {source="MONDO:equivalentTo"} xref: Orphanet:97289 {source="MONDO:equivalentTo"} @@ -377578,6 +382138,7 @@ synonym: "acral dysostosis with facial and genital abnormalities" EXACT [DOID:00 synonym: "costovertebral segmentation defect with mesomelia (formerly)" RELATED [GARD:0000312] synonym: "Covesdem syndrome (formerly)" RELATED [GARD:0000312] synonym: "fetal face syndrome" EXACT [DOID:0060254, Orphanet:97360] +synonym: "foetal face syndrome" EXACT OMO:0003005 [] synonym: "mesomelic dwarfism-small genitalia syndrome" EXACT [Orphanet:97360] synonym: "Robinow dwarfism" EXACT [DOID:0060254, Orphanet:97360] synonym: "Robinow-Silverman-Smith syndrome" EXACT [Orphanet:97360] @@ -378877,6 +383438,7 @@ subset: ordo_group_of_disorders {source="Orphanet:98259"} synonym: "childhood epilepsy syndrome" EXACT [MONDO:design_pattern] synonym: "childhood-onset epilepsy syndrome" EXACT CLINGEN_PREFERRED [] synonym: "epilepsy syndrome of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] +synonym: "paediatric epilepsy syndrome" EXACT OMO:0003005 [] synonym: "pediatric epilepsy syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] xref: ICD10CM:G40.4 {source="Orphanet:98259", source="Orphanet:98259/attributed", source="Orphanet:98259/ntbt"} xref: Orphanet:98259 {source="MONDO:equivalentTo"} @@ -378958,6 +383520,7 @@ synonym: "myeloproliferative neoplasm" EXACT [NCIT:C4345] synonym: "myeloproliferative neoplasm, chronic" EXACT [MONDO:patterns/chronic] synonym: "myeloproliferative neoplasms" RELATED [ONCOTREE:MPN] synonym: "myeloproliferative tumor" EXACT [NCIT:C4345] +synonym: "myeloproliferative tumour" EXACT OMO:0003005 [] xref: DOID:2226 {source="MONDO:equivalentTo"} xref: EFO:0002428 {source="MONDO:equivalentTo"} xref: EFO:0004251 {source="DOID:4960", source="MONDO:equivalentTo"} @@ -379309,6 +383872,7 @@ name: inherited sideroblastic anemia comment: We are pretty sure Orphanet means inherited/hereditary. This was renamed from constitutional sideroblastic anemia. subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98362"} +synonym: "constitutional sideroblastic anaemia" EXACT OMO:0003005 [] synonym: "constitutional sideroblastic anemia" EXACT [Orphanet:98362] xref: ICD10CM:D64.0 {source="Orphanet:98362/specific", source="Orphanet:98362/e", source="Orphanet:98362"} xref: OMIMPS:300751 {source="MONDO:equivalentTo"} @@ -379442,15 +384006,21 @@ name: autoimmune hemolytic anemia def: "Autoimmune hemolytic anemia (AIHA) is an autoimmune disorder in which various types of auto-antibodies are directed against red blood cells causing their survival to be shortened and resulting in hemolytic anemia." [Orphanet:98375] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98375"} +synonym: "acquired autoimmune hemolytic anaemia" RELATED OMO:0003005 [] synonym: "acquired autoimmune hemolytic anemia" RELATED [GARD:0005870] synonym: "AHA" EXACT ABBREVIATION [Orphanet:98375] synonym: "AIHA" EXACT ABBREVIATION [Orphanet:98375] +synonym: "anaemia hemolytic autoimmune" RELATED OMO:0003005 [] synonym: "anemia hemolytic autoimmune" RELATED [GARD:0005870] synonym: "anemia, autoimmune hemolytic" RELATED [OMIM:205700] +synonym: "autoimmune haemolytic anaemia" EXACT OMO:0003005 [] synonym: "autoimmune haemolytic anemia" EXACT [DOID:718] synonym: "autoimmune hemolytic anemia" EXACT [MONDO:0008784] +synonym: "familial auto-immune hemolytic anaemia (subtype)" RELATED OMO:0003005 [] synonym: "familial auto-immune hemolytic anemia (subtype)" RELATED [GARD:0005870] +synonym: "idiopathic autoimmune hemolytic anaemia" RELATED OMO:0003005 [] synonym: "idiopathic autoimmune hemolytic anemia" RELATED [GARD:0005870] +synonym: "immuno-hemolytic anaemia" RELATED OMO:0003005 [] synonym: "immuno-hemolytic anemia" RELATED [GARD:0005870] xref: CSP:0427-1178 {source="DOID:718"} xref: DOID:718 {source="MONDO:equivalentTo"} @@ -380407,7 +384977,9 @@ synonym: "neoplasm of skin of eyelid" EXACT [MONDO:patterns/neoplasm] synonym: "skin of eyelid neoplasm" EXACT [] synonym: "skin of eyelid neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "skin of eyelid tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "skin of eyelid tumour" EXACT OMO:0003005 [] synonym: "tumor of skin of eyelid" EXACT [MONDO:patterns/neoplasm] +synonym: "tumour of skin of eyelid" EXACT OMO:0003005 [] xref: Orphanet:98581 {source="MONDO:equivalentObsolete"} xref: SCTID:126499002 {source="MONDO:equivalentTo"} xref: UMLS:CN207033 {source="MONDO:equivalentTo"} @@ -380473,7 +385045,9 @@ synonym: "neoplasm of sebaceous gland of eyelid" EXACT [MONDO:patterns/neoplasm] synonym: "sebaceous gland of eyelid neoplasm" EXACT [] synonym: "sebaceous gland of eyelid neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "sebaceous gland of eyelid tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "sebaceous gland of eyelid tumour" EXACT OMO:0003005 [] synonym: "tumor of sebaceous gland of eyelid" EXACT [MONDO:patterns/neoplasm] +synonym: "tumour of sebaceous gland of eyelid" EXACT OMO:0003005 [] xref: Orphanet:98585 {source="MONDO:equivalentObsolete"} xref: UMLS:CN207036 {source="MONDO:equivalentTo"} is_a: MONDO:0002235 {source="MONDO:Redundant", source="Orphanet:98585"} ! eyelid neoplasm @@ -380490,6 +385064,7 @@ subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:98586"} synonym: "pigmented eyelid tumor" EXACT [MONDO:patterns/location] +synonym: "pigmented eyelid tumour" EXACT OMO:0003005 [] synonym: "pigmented palpebral neoplasm" EXACT [MONDO:patterns/location] xref: Orphanet:98586 {source="MONDO:equivalentObsolete"} xref: UMLS:CN207037 {source="MONDO:equivalentTo"} @@ -380830,6 +385405,7 @@ subset: ordo_group_of_disorders {source="Orphanet:98616"} synonym: "conjunctiva neoplasm" EXACT [NCIT:C2961] synonym: "conjunctiva neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "conjunctiva tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C2961] +synonym: "conjunctiva tumour" EXACT OMO:0003005 [] synonym: "conjunctival neoplasm" EXACT [NCIT:C2961] synonym: "conjunctival neoplasms" EXACT [NCIT:C2961] synonym: "conjunctival tumor" EXACT [NCIT:C2961] @@ -380837,6 +385413,8 @@ synonym: "neoplasm of conjunctiva" EXACT [MONDO:patterns/neoplasm, NCIT:C2961] synonym: "neoplasm of the conjunctiva" EXACT [NCIT:C2961] synonym: "tumor of conjunctiva" EXACT [MONDO:patterns/neoplasm, NCIT:C2961] synonym: "tumor of the conjunctiva" EXACT [NCIT:C2961] +synonym: "tumour of conjunctiva" EXACT OMO:0003005 [] +synonym: "tumour of the conjunctiva" EXACT OMO:0003005 [] xref: NCIT:C2961 {source="MONDO:equivalentTo"} xref: Orphanet:98616 {source="MONDO:equivalentObsolete"} xref: UMLS:C0009761 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98616", source="NCIT:C2961"} @@ -382229,6 +386807,7 @@ id: MONDO:0020311 name: chronic myelomonocytic leukemia def: "A myelodysplastic/myeloproliferative neoplasm which is characterized by persistent monocytosis, absence of a Philadelphia chromosome and BCR/ABL fusion gene, fewer than 20 percent blasts in the bone marrow and blood, myelodysplasia, and absence of PDGFRA or PDGFRB rearrangement." [NCIT:C3178] subset: ordo_disease {source="Orphanet:98823"} +synonym: "chronic myelomonocytic leukaemia (CMML)" EXACT OMO:0003005 [] synonym: "chronic myelomonocytic leukemia" EXACT [NCIT:C3178] synonym: "chronic myelomonocytic leukemia (CMML)" EXACT [NCIT:C3178] synonym: "CMML" EXACT ABBREVIATION [NCIT:C3178, OMIM:607785, Orphanet:98823] @@ -382292,6 +386871,7 @@ name: acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q2 def: "Acute myelomonocytic leukemia (AMML) is a cancer that typically develops in the bone marrow and blood of older individuals.AMML is one type of acute myeloid leukemia, a group of blood cancers that occur when the amount of white blood cells increases rapidly. Symptoms of AMML often include fatigue (due to anemia) or easy bruising or bleeding (due to thrombocytopenia). The cause of AMML is currently unknown. Treatment typically consists of chemotherapy." [https://rarediseases.info.nih.gov/diseases/536/acute-myeloid-leukemia-with-abnormal-bone-marrow-eosinophils-inv16p13q22-or-t1616p13q22] subset: gard_rare {source="GARD:0000536"} subset: ordo_disease {source="Orphanet:98829"} +synonym: "acute myelomonocytic leukaemia" RELATED OMO:0003005 [] synonym: "acute myelomonocytic leukemia" RELATED [GARD:0000536] synonym: "AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)" EXACT [Orphanet:98829] synonym: "AML with inv(16)(p13.1q22) or t(16;16)(p13.1;q22)" RELATED [GARD:0000536] @@ -382308,6 +386888,11 @@ id: MONDO:0020317 name: acute myeloid leukemia with 11q23 abnormalities def: "An acute myeloid leukemia associated with t(9;11)(p22.3;q23.3) and MLLT3-KMT2A fusion protein expression. Morphologically it usually has monocytic features. It may present at any age but it is more commonly seen in children. Patients may present with disseminated intravascular coagulation." [NCIT:P378] subset: ordo_disease {source="Orphanet:98831"} +synonym: "acute myeloid leukaemia with 11q23 (MLL) abnormalities" EXACT OMO:0003005 [] +synonym: "acute myeloid leukaemia with MLL abnormalities" EXACT OMO:0003005 [] +synonym: "acute myeloid Leukaemia with t(9;11)(p21.3;q23.3); MLLT3-KMT2A" EXACT OMO:0003005 [] +synonym: "acute myeloid leukaemia with t(9;11)(p22.3;q23.3); MLLT3-KMT2A" EXACT OMO:0003005 [] +synonym: "acute myeloid leukaemia with t(9;11)(p22;q23); MLLT3-MLL" EXACT OMO:0003005 [] synonym: "acute myeloid leukemia with 11q23 (MLL) abnormalities" EXACT [NCIT:C82403] synonym: "acute myeloid leukemia with MLL abnormalities" EXACT [NCIT:C82403] synonym: "acute myeloid Leukemia with t(9;11)(p21.3;q23.3); MLLT3-KMT2A" EXACT [NCIT:C82403] @@ -382337,11 +386922,18 @@ name: acute myeloblastic leukemia with maturation def: "An acute myeloid leukemia (AML) characterized by blasts with evidence of maturation to more mature neutrophils. (WHO, 2001)" [NCIT:P378] subset: gard_rare {source="GARD:0000527"} subset: ordo_disease {source="Orphanet:98834"} +synonym: "acute M2 myeloid leukaemia" EXACT OMO:0003005 [] synonym: "acute M2 myeloid leukemia" EXACT [NCIT:C3250] +synonym: "acute myeloblastic leukaemia M2" EXACT OMO:0003005 [] +synonym: "acute myeloblastic leukaemia type 2" RELATED OMO:0003005 [] synonym: "acute myeloblastic leukemia M2" EXACT [Orphanet:98834] synonym: "acute myeloblastic leukemia type 2" RELATED [GARD:0000527] +synonym: "acute myelocytic leukaemia with maturation" EXACT OMO:0003005 [] synonym: "acute myelocytic leukemia with maturation" EXACT [NCIT:C3250] +synonym: "acute myelogenous leukaemia with maturation" EXACT OMO:0003005 [] synonym: "acute myelogenous leukemia with maturation" EXACT [NCIT:C3250] +synonym: "acute myeloid leukaemia (AML-M2)" EXACT OMO:0003005 [] +synonym: "acute myeloid leukaemia with maturation" EXACT OMO:0003005 [] synonym: "acute myeloid leukemia (AML-M2)" EXACT [NCIT:C3250] synonym: "acute myeloid leukemia with maturation" EXACT [NCIT:C3250] synonym: "AM" RELATED ABBREVIATION [ONCOTREE:AM] @@ -382349,12 +386941,20 @@ synonym: "AML M2" EXACT [Orphanet:98834] synonym: "AML with maturation" EXACT [NCIT:C3250] synonym: "FAB M2" EXACT [NCIT:C3250] synonym: "LAM M2" RELATED [GARD:0000527] +synonym: "M2 acute granulocytic leukaemia" EXACT OMO:0003005 [] synonym: "M2 acute granulocytic leukemia" EXACT [NCIT:C3250] +synonym: "M2 acute myeloblastic leukaemia" EXACT OMO:0003005 [] +synonym: "M2 acute myeloblastic leukaemia with maturation" EXACT OMO:0003005 [] synonym: "M2 acute myeloblastic leukemia" EXACT [NCIT:C3250] synonym: "M2 acute myeloblastic leukemia with maturation" EXACT [NCIT:C3250] +synonym: "M2 acute myelocytic leukaemia with maturation" EXACT OMO:0003005 [] synonym: "M2 acute myelocytic leukemia with maturation" EXACT [NCIT:C3250] +synonym: "M2 acute myelogenous leukaemia" EXACT OMO:0003005 [] +synonym: "M2 acute myelogenous leukaemia with maturation" EXACT OMO:0003005 [] synonym: "M2 acute myelogenous leukemia" EXACT [NCIT:C3250] synonym: "M2 acute myelogenous leukemia with maturation" EXACT [NCIT:C3250] +synonym: "M2 acute myeloid leukaemia" EXACT OMO:0003005 [] +synonym: "M2 acute myeloid leukaemia with maturation" EXACT OMO:0003005 [] synonym: "M2 acute myeloid leukemia" EXACT [NCIT:C3250] synonym: "M2 acute myeloid leukemia with maturation" EXACT [NCIT:C3250] xref: DOID:0081087 {source="MONDO:equivalentTo"} @@ -382376,14 +386976,19 @@ id: MONDO:0020321 name: acute undifferentiated leukemia def: "A rare acute leukemia of ambiguous lineage in which the blasts do not express markers specific to myeloid or lymphoid lineage." [NCIT:C9298] subset: ordo_disease {source="Orphanet:98835"} +synonym: "acute leukaemia not otherwise specified" RELATED OMO:0003005 [] synonym: "acute leukemia not otherwise specified" RELATED EXCLUDE [NCIT:C9298] synonym: "acute leukemia, NOS" RELATED EXCLUDE [NCIT:C9298] synonym: "acute myeloid leukemia, minimal differentiation, FAB M0" EXACT [Orphanet:98835] synonym: "acute undifferentiated leukemia" EXACT [NCIT:C9298] synonym: "AUL" RELATED ABBREVIATION [ONCOTREE:AUL] +synonym: "leukaemia stem cell" EXACT OMO:0003005 [] synonym: "leukemia stem cell" EXACT [NCIT:C9298] +synonym: "stem cell acute leukaemia" EXACT OMO:0003005 [] synonym: "stem cell acute leukemia" EXACT [NCIT:C9298] +synonym: "stem cell leukaemia" EXACT OMO:0003005 [] synonym: "stem cell leukemia" EXACT [NCIT:C9298] +synonym: "undifferentiated acute leukaemia" EXACT OMO:0003005 [] synonym: "undifferentiated acute leukemia" EXACT [NCIT:C9298] xref: ICD10CM:C95.0 {source="Orphanet:98835", source="Orphanet:98835/ntbt"} xref: MedDRA:10045516 {source="Orphanet:98835", source="Orphanet:98835/e"} @@ -382405,6 +387010,7 @@ id: MONDO:0020322 name: acute biphenotypic leukemia def: "An acute leukemia of ambiguous lineage characterized by blasts which coexpress myeloid and T or B lineage antigens or concurrent B and T lineage antigens. (WHO, 2001)" [NCIT:P378] subset: ordo_disease {source="Orphanet:98837"} +synonym: "B- and T-cell mixed leukaemia" EXACT OMO:0003005 [] synonym: "B- and T-cell mixed leukemia" EXACT [MONDO:0006667] xref: DOID:9953 {source="EFO:1000828", source="MONDO:equivalentTo"} xref: EFO:1000828 {source="MONDO:equivalentTo"} @@ -382603,8 +387209,12 @@ subset: ordo_disease {source="Orphanet:98849"} synonym: "SM-AHN" EXACT ABBREVIATION [NCIT:C9284] synonym: "SM-AHNMD" EXACT ABBREVIATION [NCIT:C9284] synonym: "SMAHN" EXACT ABBREVIATION [ONCOTREE:SMAHN] +synonym: "systemic mastocytosis with an associated haematological neoplasm" EXACT OMO:0003005 [] +synonym: "systemic mastocytosis with an associated haematological neoplasm (SM-AHN)" EXACT OMO:0003005 [] synonym: "systemic mastocytosis with an associated hematological neoplasm" EXACT [NCIT:C9284] synonym: "systemic mastocytosis with an associated hematological neoplasm (SM-AHN)" EXACT [NCIT:C9284] +synonym: "systemic mastocytosis with associated clonal haematological non-mast cell lineage disease" EXACT OMO:0003005 [] +synonym: "systemic mastocytosis with associated clonal haematological non-mast-cell lineage disease" EXACT OMO:0003005 [] synonym: "systemic mastocytosis with associated clonal hematological non-mast cell lineage disease" EXACT [DOID:4797] synonym: "systemic mastocytosis with associated clonal hematological non-mast-cell lineage disease" EXACT [NCIT:C9284] synonym: "systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease" EXACT [DOID:4797] @@ -382652,8 +387262,11 @@ def: "Mast cell leukemia is a malignant form of systemic mastocytosis (SM) chara subset: disease_grouping subset: ordo_disease {source="Orphanet:158799"} subset: ordo_group_of_disorders {source="Orphanet:98851"} +synonym: "aleukemic mast cell leukaemia" EXACT OMO:0003005 [] synonym: "aleukemic mast cell leukemia" EXACT [MONDO:0015561] +synonym: "Mast cell leukaemia" EXACT OMO:0003005 [] synonym: "Mast cell leukemia" EXACT [NCIT:C3169] +synonym: "mast-cell leukaemia" EXACT OMO:0003005 [] synonym: "mast-cell leukemia" EXACT [MONDO:0005840] synonym: "SMMCL" RELATED ABBREVIATION [ONCOTREE:SMMCL] xref: DOID:9254 {source="EFO:0007359", source="MONDO:equivalentTo"} @@ -382710,6 +387323,7 @@ synonym: "CDA type 1" EXACT [Orphanet:98869] synonym: "CDA type I" EXACT [Orphanet:98869] synonym: "congenital dyserythropoietic anemia type 1" EXACT [Orphanet:98869] synonym: "dyserythropoietic anemia, congenital type 1" RELATED [GARD:0002000] +synonym: "type I congenital dyserythropoietic anaemia" RELATED OMO:0003005 [] synonym: "type I congenital dyserythropoietic anemia" RELATED [GARD:0002000] xref: DOID:0111396 {source="MONDO:equivalentTo"} xref: ICD10CM:D64.4 {source="Orphanet:98869", source="Orphanet:98869/attributed", source="Orphanet:98869/ntbt"} @@ -383139,6 +387753,7 @@ synonym: "glaucoma (disease) of childhood" EXACT [MONDO:patterns/childhood] synonym: "glaucoma of childhood" EXACT [DOID:1068, ICD9CM:365.14] synonym: "JOAG" EXACT ABBREVIATION [] synonym: "juvenile glaucoma" EXACT [] +synonym: "paediatric glaucoma (disease)" EXACT OMO:0003005 [] synonym: "pediatric glaucoma (disease)" EXACT [MONDO:patterns/childhood] xref: DOID:1068 {source="MONDO:equivalentTo"} xref: ICD9:365.14 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -384297,6 +388912,7 @@ id: MONDO:0020458 name: hemolytic anemia due to erythrocyte adenosine deaminase overproduction def: "Hemolytic anemia due to erythrocyte adenosine deaminase overproduction is a rare, genetic, hematologic disease characterized by mild, chronic hemolytic anemia (due to highly elevated adenosine deaminase activity in red blood cells resulting in their premature destruction), elevated reticulocyte count, splenomegaly and mild hyperbilirubinemia. Other cells and tissues are not affected." [Orphanet:99138] subset: ordo_disease {source="Orphanet:99138"} +synonym: "adenosine deaminase, elevated, hemolytic anaemia due to" EXACT OMO:0003005 [] synonym: "adenosine deaminase, elevated, hemolytic anemia due to" EXACT [OMIM:102730] xref: ICD10CM:D55.3 {source="Orphanet:99138/attributed", source="Orphanet:99138/ntbt", source="Orphanet:99138"} xref: MESH:C566314 {source="MONDO:equivalentTo"} @@ -384515,6 +389131,7 @@ id: MONDO:0020474 name: cheirospondyloenchondromatosis def: "Cheirospondyloenchondromatosis is an extremely rare type of enchondromatosis of very early onset (from neonatal period to infancy) characterized by symmetrical multiple enchondromas with metacarpal and phalangeal involvement resulting in short hands and feet, platyspondyly, mild to moderate short stature and intellectual disability." [Orphanet:99647] subset: ordo_disease {source="Orphanet:99647"} +synonym: "generalised enchondromatosis with platyspondyly" EXACT OMO:0003005 [] synonym: "generalized enchondromatosis with platyspondyly" EXACT [Orphanet:99647] xref: Orphanet:99647 {source="MONDO:equivalentTo"} xref: SCTID:725104005 {source="MONDO:equivalentTo"} @@ -385121,21 +389738,34 @@ id: MONDO:0020511 name: precursor B-cell acute lymphoblastic leukemia def: "The most frequent type of acute lymphoblastic leukemia. Approximately 75% of cases occur in children under six years of age. This is a good prognosis leukemia. In the pediatric age group the complete remission rate is approximately 95% and the disease free survival rate is 70%. Approximately 80% of children appear to be cured. In the adult age group the complete remission rate is 60-85%. (WHO, 2001)" [NCIT:C8644] subset: ordo_disease {source="Orphanet:99860"} +synonym: "acute B cell lymphocytic leukaemia" BROAD OMO:0003005 [] synonym: "acute B cell lymphocytic leukemia" BROAD [NCIT:C8644] +synonym: "acute B-cell lymphocytic leukaemia" BROAD OMO:0003005 [] synonym: "acute B-cell lymphocytic leukemia" BROAD [NCIT:C8644] +synonym: "B acute lymphoblastic leukaemia" BROAD OMO:0003005 [] synonym: "B acute lymphoblastic leukemia" BROAD [NCIT:C8644] +synonym: "B cell acute lymphocytic leukaemia" BROAD OMO:0003005 [] synonym: "B cell acute lymphocytic leukemia" BROAD [NCIT:C8644] +synonym: "B cell precursor type acute leukaemia" EXACT OMO:0003005 [] synonym: "B cell precursor type acute leukemia" EXACT [NCIT:C8644] synonym: "B-ALL" BROAD [Orphanet:99860] +synonym: "B-cell acute lymphoblastic leukaemia" BROAD OMO:0003005 [] synonym: "B-cell acute lymphoblastic leukemia" BROAD [NCIT:C8644] +synonym: "B-cell acute lymphocytic leukaemia" BROAD OMO:0003005 [] synonym: "B-cell acute lymphocytic leukemia" BROAD [NCIT:C8644] +synonym: "B-cell lymphoblastic leukaemia" BROAD OMO:0003005 [] synonym: "B-cell lymphoblastic leukemia" BROAD [NCIT:C8644] +synonym: "B-cell precursor type acute leukaemia" EXACT OMO:0003005 [] synonym: "B-cell precursor type acute leukemia" EXACT [NCIT:C8644] +synonym: "B-cell type acute leukaemia" BROAD OMO:0003005 [] synonym: "B-cell type acute leukemia" BROAD [NCIT:C8644] synonym: "B-precursor ALL" EXACT [NCIT:C8644] synonym: "precursor B-cell acute lymphoblastic leukemia/lymphoma" EXACT [Orphanet:99860] +synonym: "precursor B-cell acute lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "precursor B-cell acute lymphocytic leukemia" EXACT [Orphanet:99860] synonym: "precursor B-cell acute lymphocytic leukemia/lymphoma" EXACT [Orphanet:99860] +synonym: "precursor B-lymphoblastic leukaemia" EXACT OMO:0003005 [] +synonym: "precursor B-lymphoblastic leukaemia (B-precursor ALL)" EXACT OMO:0003005 [] synonym: "precursor B-lymphoblastic leukemia" EXACT [NCIT:C8644] synonym: "precursor B-lymphoblastic leukemia (B-precursor ALL)" EXACT [NCIT:C8644] xref: DOID:0080638 {source="MONDO:equivalentTo"} @@ -385155,6 +389785,7 @@ id: MONDO:0020512 name: precursor T-cell acute lymphoblastic leukemia subset: ordo_disease {source="Orphanet:99861"} synonym: "precursor T-cell acute lymphoblastic leukemia/lymphoma" EXACT [Orphanet:99861] +synonym: "precursor T-cell acute lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "precursor T-cell acute lymphocytic leukemia" EXACT [Orphanet:99861] synonym: "precursor T-cell acute lymphocytic leukemia/lymphoma" EXACT [Orphanet:99861] synonym: "T-ALL" BROAD [Orphanet:99861] @@ -385218,6 +389849,7 @@ id: MONDO:0020517 name: eosinophilic granuloma def: "A clinical variant of Langerhans cell histiocytosis characterized by unifocal involvement of a bone (most often), skin, or lung. Patients are usually older children or adults usually presenting with a lytic bone lesion. The etiology is unknown. Morphologically, eosinophilic granuloma is characterized by the presence of Langerhans cells in a characteristic milieu which includes histiocytes, eosinophils, neutrophils, and small, mature lymphocytes." [NCIT:P378] subset: ordo_disease {source="Orphanet:99871"} +synonym: "chronic and localised Langerhans cell histiocytosis" EXACT OMO:0003005 [] synonym: "chronic and localized Langerhans cell histiocytosis" EXACT [Orphanet:99871] synonym: "chronic unifocal Langerhans cell histiocytosis" EXACT [NCIT:C3016] synonym: "eosinophilic granuloma" EXACT [NCIT:C3016] @@ -385399,6 +390031,7 @@ subset: ordo_disease {source="Orphanet:99889"} synonym: "adrenocorticotropic hormone secretion syndrome" EXACT [Orphanet:99889] synonym: "Cushing syndrome due to ectopic ACTH secretion" EXACT [DOID:0060890] synonym: "ectopic ACTH secreting tumor" EXACT [DOID:0060890, Orphanet:99889] +synonym: "ectopic ACTH secreting tumour" EXACT OMO:0003005 [] synonym: "ectopic Cushing syndrome" EXACT [Orphanet:99889] synonym: "occult ectopic ACTH secretion" EXACT [Orphanet:99889] synonym: "paraneoplastic Cushing syndrome" EXACT [Orphanet:99889] @@ -385599,6 +390232,7 @@ subset: ordo_disease {source="Orphanet:99912"} synonym: "dysgerminomatous germ cell cancer of ovary" EXACT [Orphanet:99912] synonym: "dysgerminomatous germ cell cancer of the ovary" EXACT [Orphanet:99912] synonym: "malignant dysgerminomatous germ cell tumor of the ovary" RELATED [Orphanet:99912] +synonym: "malignant dysgerminomatous germ cell tumour of the ovary" RELATED OMO:0003005 [] synonym: "malignant ovarian dysgerminoma" EXACT [Orphanet:99912] xref: ICD10CM:C56 {source="Orphanet:99912", source="Orphanet:99912/ntbt"} xref: Orphanet:99912 {source="MONDO:equivalentTo"} @@ -385647,23 +390281,33 @@ def: "An aggressive granulosa cell tumor that arises from the ovary and metastas subset: gard_rare subset: ordo_disease {source="Orphanet:99915"} synonym: "adult granulosa cell tumor of the ovary" RELATED [GARD:0008642] +synonym: "adult granulosa cell tumour of the ovary" RELATED OMO:0003005 [] synonym: "adult ovarian granulosa cell tumor" EXACT [MONDO:design_pattern] +synonym: "adult ovarian granulosa cell tumour" EXACT OMO:0003005 [] synonym: "cancer of granulosa cell" EXACT [MONDO:patterns/cancer] synonym: "GCT of the ovary" RELATED [GARD:0008642] synonym: "granulosa cell cancer" EXACT [MONDO:patterns/location, Orphanet:99915] synonym: "granulosa cell malignant tumor" EXACT [Orphanet:99915] +synonym: "granulosa cell malignant tumour" EXACT OMO:0003005 [] synonym: "granulosa theca cell tumor" RELATED [GARD:0008642] synonym: "granulosa theca cell tumor of the ovary" RELATED [GARD:0008642] +synonym: "granulosa theca cell tumour" RELATED OMO:0003005 [] +synonym: "granulosa theca cell tumour of the ovary" RELATED OMO:0003005 [] synonym: "GTCT" RELATED ABBREVIATION [GARD:0008642] synonym: "Maligant granulosa cell tumor of the ovary" RELATED [Orphanet:99915] +synonym: "Maligant granulosa cell tumour of the ovary" RELATED OMO:0003005 [] synonym: "malignant granulosa cell neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant granulosa cell neoplasm of ovary" EXACT [NCIT:C8403] synonym: "malignant granulosa cell neoplasm of the ovary" EXACT [NCIT:C8403] synonym: "malignant granulosa cell tumor of ovary" EXACT [NCIT:C8403] synonym: "malignant granulosa cell tumor of the ovary" EXACT [NCIT:C8403] +synonym: "malignant granulosa cell tumour of ovary" EXACT OMO:0003005 [] +synonym: "malignant granulosa cell tumour of the ovary" EXACT OMO:0003005 [] synonym: "malignant ovarian granulosa cell neoplasm" EXACT [NCIT:C8403] synonym: "malignant ovarian granulosa cell tumor" EXACT [NCIT:C8403] +synonym: "malignant ovarian granulosa cell tumour" EXACT OMO:0003005 [] synonym: "ovarian granulosa cell tumor of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] +synonym: "ovarian granulosa cell tumour of adults" EXACT OMO:0003005 [] xref: ICD10CM:C56 {source="Orphanet:99915", source="Orphanet:99915/ntbt"} xref: MESH:D006106 {source="Orphanet:99915", source="Orphanet:99915/e"} xref: NCIT:C8403 {source="MONDO:equivalentTo"} @@ -385690,12 +390334,17 @@ synonym: "Androblastoma" EXACT [Orphanet:99916] synonym: "Arrhenoblastoma" EXACT [Orphanet:99916] synonym: "malignant ovarian Sertoli-Leydig cell tumor" EXACT [] synonym: "malignant ovarian sertoli-Leydig cell tumor" RELATED [] +synonym: "malignant ovarian Sertoli-Leydig cell tumour" EXACT OMO:0003005 [] +synonym: "malignant ovarian sertoli-Leydig cell tumour" RELATED OMO:0003005 [] synonym: "malignant Sertoli-Leydig cell tumor of the ovary" RELATED [Orphanet:99916] +synonym: "malignant Sertoli-Leydig cell tumour of the ovary" RELATED OMO:0003005 [] synonym: "ovarian malignant Sertoli-Leydig cell tumor" EXACT [Orphanet:99916] +synonym: "ovarian malignant Sertoli-Leydig cell tumour" EXACT OMO:0003005 [] synonym: "ovarian Sertoli-Leydig cell cancer" EXACT [Orphanet:99916] synonym: "ovarian Sertoli-Leydig cell tumor, malignant" EXACT [MONDO:patterns/malignant] synonym: "ovarian sertoli-Leydig cell tumor, malignant" EXACT [MONDO:patterns/malignant] synonym: "virilizing ovarian tumor" EXACT [Orphanet:99916] +synonym: "virilizing ovarian tumour" EXACT OMO:0003005 [] xref: ICD10CM:C56 {source="Orphanet:99916/ntbt", source="Orphanet:99916"} xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:99916 {source="MONDO:equivalentTo"} @@ -385886,10 +390535,13 @@ name: placental site trophoblastic tumor def: "Placental site trophoblastic tumor is a rare gestational trophoblastic tumor (GTT) which develops from the placental implantation site and always occurs following pregnancy, voluntary termination of pregnancy (VTP) or miscarriage." [Orphanet:99928] subset: ordo_disease {source="Orphanet:99928"} synonym: "placental site gestational trophoblastic tumor" EXACT [NCIT:C3757] +synonym: "placental site gestational trophoblastic tumour" EXACT OMO:0003005 [] synonym: "placental site trophoblastic tumor" EXACT [MONDO:0006911] synonym: "placental site trophoblastic tumor (morphologic abnormality)" EXACT [DOID:3596] +synonym: "placental site trophoblastic tumour (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "placental-site gestational trophoblastic neoplasm" EXACT [DOID:3596, NCIT:C3757] synonym: "placental-site gestational trophoblastic tumor" EXACT [NCIT:C3757] +synonym: "placental-site gestational trophoblastic tumour" EXACT OMO:0003005 [] synonym: "placental-site GTT" EXACT [NCIT:C3757] synonym: "PSST" EXACT ABBREVIATION [Orphanet:99928] xref: DOID:3596 {source="EFO:1001111", source="MONDO:equivalentTo"} @@ -386026,22 +390678,33 @@ synonym: "ATT/RHT" EXACT [NCIT:C6906] synonym: "atypical teratoid/rhabdoid tumor" EXACT [NCIT:C6906] synonym: "atypical teratoid/rhabdoid tumor (morphologic abnormality)" EXACT [DOID:2129] synonym: "atypical teratoid/rhabdoid tumor (WHO grade IV)" EXACT [NCIT:C6906] +synonym: "atypical teratoid/rhabdoid tumour" EXACT OMO:0003005 [] +synonym: "atypical teratoid/rhabdoid tumour (morphologic abnormality)" EXACT OMO:0003005 [] +synonym: "atypical teratoid/rhabdoid tumour (WHO grade IV)" EXACT OMO:0003005 [] synonym: "central nervous system rhabdoid neoplasm" EXACT [NCIT:C6906] synonym: "central nervous system rhabdoid tumor" EXACT [MONDO:patterns/location, NCIT:C6906] +synonym: "central nervous system rhabdoid tumour" EXACT OMO:0003005 [] synonym: "CNS rhabdoid neoplasm" EXACT [NCIT:C6906] synonym: "CNS rhabdoid tumor" EXACT [NCIT:C6906] +synonym: "CNS rhabdoid tumour" EXACT OMO:0003005 [] synonym: "malignant brain rhabdoid neoplasm" EXACT [NCIT:C6906] synonym: "malignant brain rhabdoid tumor" EXACT [NCIT:C6906] +synonym: "malignant brain rhabdoid tumour" EXACT OMO:0003005 [] synonym: "malignant rhabdoid neoplasm of brain" EXACT [NCIT:C6906] synonym: "malignant rhabdoid neoplasm of the brain" EXACT [NCIT:C6906] synonym: "malignant rhabdoid tumor of brain" EXACT [NCIT:C6906] synonym: "malignant rhabdoid tumor of the brain" EXACT [NCIT:C6906] +synonym: "malignant rhabdoid tumour of brain" EXACT OMO:0003005 [] +synonym: "malignant rhabdoid tumour of the brain" EXACT OMO:0003005 [] synonym: "primary malignant brain rhabdoid neoplasm" EXACT [NCIT:C6906] synonym: "primary malignant brain rhabdoid tumor" EXACT [NCIT:C6906] +synonym: "primary malignant brain rhabdoid tumour" EXACT OMO:0003005 [] synonym: "primary malignant rhabdoid neoplasm of brain" EXACT [NCIT:C6906] synonym: "primary malignant rhabdoid neoplasm of the brain" EXACT [NCIT:C6906] synonym: "primary malignant rhabdoid tumor of brain" EXACT [NCIT:C6906] synonym: "primary malignant rhabdoid tumor of the brain" EXACT [NCIT:C6906] +synonym: "primary malignant rhabdoid tumour of brain" EXACT OMO:0003005 [] +synonym: "primary malignant rhabdoid tumour of the brain" EXACT OMO:0003005 [] synonym: "rhabdoid neoplasm of central nervous system" EXACT [NCIT:C6906] synonym: "rhabdoid neoplasm of CNS" EXACT [NCIT:C6906] synonym: "rhabdoid neoplasm of the central nervous system" EXACT [NCIT:C6906] @@ -386051,6 +390714,11 @@ synonym: "rhabdoid tumor of CNS" EXACT [NCIT:C6906] synonym: "rhabdoid tumor of the central nervous system" EXACT [NCIT:C6906] synonym: "rhabdoid tumor of the CNS" EXACT [DOID:2129, NCIT:C6906] synonym: "rhabdoid tumor predisposition syndrome" RELATED [DOID:2129] +synonym: "rhabdoid tumour of central nervous system" EXACT OMO:0003005 [] +synonym: "rhabdoid tumour of CNS" EXACT OMO:0003005 [] +synonym: "rhabdoid tumour of the central nervous system" EXACT OMO:0003005 [] +synonym: "rhabdoid tumour of the CNS" EXACT OMO:0003005 [] +synonym: "rhabdoid tumour predisposition syndrome" RELATED OMO:0003005 [] xref: DOID:2129 {source="MONDO:equivalentTo"} xref: EFO:1002008 {source="MONDO:equivalentTo"} xref: ICD10CM:C49.9 {source="Orphanet:99966/ntbt", source="Orphanet:99966"} @@ -386247,6 +390915,7 @@ def: "Germ cell tumors of the central nervous system other than germinoma. This synonym: "central nervous system nongerminomatous germ cell tumor" EXACT [NCIT:C100093] synonym: "nongerminomatous GCT - CNS" EXACT [NCIT:C100093] synonym: "nongerminomatous germ cell tumor of the CNS" EXACT [NCIT:C100093] +synonym: "nongerminomatous germ cell tumour of the CNS" EXACT OMO:0003005 [] xref: NCIT:C100093 {source="MONDO:equivalentTo"} xref: UMLS:C1696109 {source="MONDO:equivalentTo"} is_a: MONDO:0003000 {source="NCIT:C100093"} ! central nervous system germ cell tumor @@ -386283,6 +390952,8 @@ name: childhood gonadal germ cell tumor def: "A germ cell tumor that arises from the testis or ovary and occurs during childhood." [NCIT:C114801] synonym: "childhood gonadal germ cell tumor" EXACT [NCIT:C114801] synonym: "gonadal germ cell tumor of childhood" EXACT [MONDO:patterns/childhood] +synonym: "gonadal germ cell tumour of childhood" EXACT OMO:0003005 [] +synonym: "paediatric gonadal germ cell tumour" EXACT OMO:0003005 [] synonym: "pediatric gonadal germ cell tumor" EXACT [MONDO:patterns/childhood] xref: NCIT:C114801 {source="MONDO:equivalentTo"} xref: UMLS:C3899657 {source="MONDO:equivalentTo"} @@ -386408,6 +391079,7 @@ name: lung PEComa def: "A lung tumor that arises from perivascular epithelioid cells (PECs)." [NCIT:C142783] synonym: "lung PEComa" EXACT [NCIT:C142783] synonym: "lung pecomatous tumor" EXACT [NCIT:C142783] +synonym: "lung pecomatous tumour" EXACT OMO:0003005 [] xref: NCIT:C142783 {source="MONDO:equivalentTo"} is_a: MONDO:0006359 {source="NCIT:C142783"} ! neoplasm with perivascular epithelioid cell differentiation intersection_of: MONDO:0006359 ! neoplasm with perivascular epithelioid cell differentiation @@ -386419,6 +391091,7 @@ name: cardiac germ cell tumor def: "A germ cell tumor that arises within the myocardium or cardiac chambers. The reported cases have been teratomas and yolk sac tumors." [NCIT:C147005] synonym: "cardiac germ cell tumor" EXACT [NCIT:C147005] synonym: "heart germ cell tumor" EXACT [NCIT:C147005] +synonym: "heart germ cell tumour" EXACT OMO:0003005 [] xref: NCIT:C147005 {source="MONDO:equivalentTo"} is_a: MONDO:0018201 {source="NCIT:C147005"} ! extragonadal germ cell tumor is_a: MONDO:0021209 {source="NCIT:C147005"} ! heart neoplasm @@ -386484,10 +391157,12 @@ id: MONDO:0020593 name: trichoblastoma def: "A benign hair follicle neoplasm with trichoblastic differentiation. It usually presents as a solitary papular lesion It most often presents on the head and neck area, but it may develop in any anatomic site containing hair follicles. Because of its benign nature, treatment usually is not required, provided that the diagnosis has been established with certainty." [NCIT:C27132] synonym: "Brooke's tumor" EXACT [NCIT:C27132] +synonym: "Brooke's tumour" EXACT OMO:0003005 [] synonym: "trichoblastoma" EXACT [NCIT:C27132] synonym: "trichoepithelioma" EXACT [NCIT:C27132] synonym: "trichoepithelioma, benign" EXACT [NCIT:C27132] synonym: "trichogenic adnexal tumor" EXACT [NCIT:C27132] +synonym: "trichogenic adnexal tumour" EXACT OMO:0003005 [] synonym: "trichogenic trichoblastoma" EXACT [NCIT:C27132] xref: ICDO:8100/0 {source="NCIT:C27132"} xref: NCIT:C27132 {source="MONDO:equivalentTo"} @@ -387124,10 +391799,13 @@ synonym: "neoplasms, respiratory tract" EXACT [MESH:D012142] synonym: "respiratory system neoplasm" EXACT [EFO:0003853] synonym: "respiratory tract neoplasm" EXACT [MESH:D012142, NCIT:C3355] synonym: "respiratory tract tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3355] +synonym: "respiratory tract tumour" EXACT OMO:0003005 [] synonym: "tract neoplasm, respiratory" EXACT [MESH:D012142] synonym: "tract neoplasms, respiratory" EXACT [MESH:D012142] synonym: "tumor of respiratory tract" EXACT [MONDO:patterns/neoplasm, NCIT:C3355] synonym: "tumor of the respiratory tract" EXACT [NCIT:C3355] +synonym: "tumour of respiratory tract" EXACT OMO:0003005 [] +synonym: "tumour of the respiratory tract" EXACT OMO:0003005 [] xref: EFO:0003853 {source="MONDO:equivalentTo"} xref: ICD10CM:C30-C39 {source="MONDO:relatedTo", source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: MESH:D012142 {source="MONDO:equivalentTo"} @@ -387401,20 +392079,29 @@ synonym: "borderline serous neoplasm of ovary" EXACT [NCIT:C5226] synonym: "borderline serous neoplasm of the ovary" EXACT [NCIT:C5226] synonym: "borderline serous tumor of ovary" EXACT [NCIT:C5226] synonym: "borderline serous tumor of the ovary" EXACT [NCIT:C5226] +synonym: "borderline serous tumour of ovary" EXACT OMO:0003005 [] +synonym: "borderline serous tumour of the ovary" EXACT OMO:0003005 [] synonym: "ovarian serous neoplasm of low malignant potential" EXACT [NCIT:C5226] synonym: "ovarian serous tumor of low malignant potential" EXACT [NCIT:C5226] +synonym: "ovarian serous tumour of low malignant potential" EXACT OMO:0003005 [] synonym: "proliferating ovarian serous neoplasm" EXACT [NCIT:C5226] synonym: "proliferating ovarian serous tumor" EXACT [NCIT:C5226] +synonym: "proliferating ovarian serous tumour" EXACT OMO:0003005 [] synonym: "proliferating serous neoplasm of ovary" EXACT [NCIT:C5226] synonym: "proliferating serous neoplasm of the ovary" EXACT [NCIT:C5226] synonym: "proliferating serous tumor of ovary" EXACT [NCIT:C5226] synonym: "proliferating serous tumor of the ovary" EXACT [NCIT:C5226] +synonym: "proliferating serous tumour of ovary" EXACT OMO:0003005 [] +synonym: "proliferating serous tumour of the ovary" EXACT OMO:0003005 [] synonym: "serous neoplasm of ovary with low malignant potential" EXACT [NCIT:C5226] synonym: "serous neoplasm of the ovary with low malignant potential" EXACT [NCIT:C5226] synonym: "serous ovarian neoplasm of low malignant potential" EXACT [NCIT:C5226] synonym: "serous ovarian tumor of low malignant potential" EXACT [NCIT:C5226] +synonym: "serous ovarian tumour of low malignant potential" EXACT OMO:0003005 [] synonym: "serous tumor of ovary with low malignant potential" EXACT [NCIT:C5226] synonym: "serous tumor of the ovary with low malignant potential" EXACT [NCIT:C5226] +synonym: "serous tumour of ovary with low malignant potential" EXACT OMO:0003005 [] +synonym: "serous tumour of the ovary with low malignant potential" EXACT OMO:0003005 [] xref: NCIT:C5226 {source="MONDO:equivalentTo"} xref: UMLS:C1332598 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C5226"} is_a: MONDO:0016093 {source="NCIT:C5226"} ! borderline epithelial tumor of ovary @@ -387428,6 +392115,7 @@ name: malignant spindle cell neoplasm def: "A malignant neoplasm characterized by the presence of atypical spindle cells." [NCIT:C27091] synonym: "malignant spindle cell neoplasm" EXACT [NCIT:C27091] synonym: "malignant spindle cell tumor" EXACT [NCIT:C27091] +synonym: "malignant spindle cell tumour" EXACT OMO:0003005 [] synonym: "spindle cell cancer" EXACT [NCIT:C27091] xref: NCIT:C27091 {source="MONDO:equivalentTo"} is_a: MONDO:0020664 {source="NCIT:C27091"} ! spindle cell neoplasm @@ -387441,6 +392129,7 @@ name: spindle cell neoplasm def: "A benign or malignant neoplasm characterized by the presence of neoplastic spindle cells." [NCIT:C27263] synonym: "spindle cell neoplasm" EXACT [NCIT:C27263] synonym: "spindle cell tumor" EXACT [NCIT:C27263] +synonym: "spindle cell tumour" EXACT OMO:0003005 [] xref: EFO:0000705 {source="MONDO:equivalentTo"} xref: NCIT:C27263 {source="MONDO:equivalentTo"} is_a: MONDO:0005070 ! neoplasm @@ -387500,16 +392189,22 @@ name: paranasal sinus cancer def: "A primary or metastatic malignant neoplasm involving the paranasal sinuses." [NCIT:C7487] synonym: "malignant accessory sinus neoplasm" EXACT [NCIT:C7487] synonym: "malignant accessory sinus tumor" EXACT [NCIT:C7487] +synonym: "malignant accessory sinus tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of accessory sinus" EXACT [NCIT:C7487] synonym: "malignant neoplasm of paranasal sinus" EXACT [NCIT:C7487] synonym: "malignant neoplasm of the accessory sinus" EXACT [NCIT:C7487] synonym: "malignant neoplasm of the paranasal sinus" EXACT [NCIT:C7487] synonym: "malignant paranasal sinus neoplasm" EXACT [NCIT:C7487] synonym: "malignant paranasal sinus tumor" EXACT [NCIT:C7487] +synonym: "malignant paranasal sinus tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of accessory sinus" EXACT [NCIT:C7487] synonym: "malignant tumor of paranasal sinus" EXACT [NCIT:C7487] synonym: "malignant tumor of the accessory sinus" EXACT [NCIT:C7487] synonym: "malignant tumor of the paranasal sinus" EXACT [NCIT:C7487] +synonym: "malignant tumour of accessory sinus" EXACT OMO:0003005 [] +synonym: "malignant tumour of paranasal sinus" EXACT OMO:0003005 [] +synonym: "malignant tumour of the accessory sinus" EXACT OMO:0003005 [] +synonym: "malignant tumour of the paranasal sinus" EXACT OMO:0003005 [] xref: NCIT:C7487 {source="MONDO:equivalentTo"} xref: UMLS:C0153474 {source="NCIT:C7487", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0005289 {source="NCIT:C7487"} ! paranasal sinus neoplasm @@ -387579,6 +392274,7 @@ is_a: MONDO:0005385 ! vascular disorder id: MONDO:0020675 name: ischemic bowel disorder def: "Disease of the large or small intestine that is caused by inadequate blood supply." [NCIT:C35212] +synonym: "ischaemic bowel disease" EXACT OMO:0003005 [] synonym: "ischemic bowel disease" EXACT [NCIT:C35212] xref: NCIT:C35212 {source="MONDO:equivalentTo"} is_a: MONDO:0005053 {source="NCIT:C35212"} ! ischemic disease @@ -387680,6 +392376,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0020682 name: Ehlers-Danlos syndrome, spondylodysplastic type, 1 synonym: "dermatan sulfate proteoglycan" EXACT [OMIM:130070] +synonym: "dermatan sulphate proteoglycan" EXACT OMO:0003005 [] synonym: "EDSSPD1" EXACT ABBREVIATION [OMIM:130070] synonym: "Ehlers-Danlos syndrome with Short stature and Limb anomalies" EXACT [OMIM:130070] synonym: "Ehlers-Danlos syndrome, progeroid type 1" EXACT CLINGEN_PREFERRED [] @@ -387776,11 +392473,15 @@ def: "Reduced blood flow to the spinal cord which is supplied by the anterior sp synonym: "cord ischemia, spinal" RELATED [MESH:D020760] synonym: "cord Ischemias, spinal" RELATED [MESH:D020760] synonym: "experimental spinal cord ischemia" RELATED [MESH:D020760] +synonym: "ischaemic myelopathies" RELATED OMO:0003005 [] +synonym: "ischaemic myelopathy" RELATED OMO:0003005 [] synonym: "ischemia, spinal cord" RELATED [MESH:D020760] synonym: "ischemias, spinal cord" RELATED [MESH:D020760] synonym: "ischemic myelopathies" RELATED [MESH:D020760] synonym: "ischemic myelopathy" RELATED [MESH:D020760] +synonym: "myelopathies, ischaemic" RELATED OMO:0003005 [] synonym: "myelopathies, ischemic" RELATED [MESH:D020760] +synonym: "myelopathy, ischaemic" RELATED OMO:0003005 [] synonym: "myelopathy, ischemic" RELATED [MESH:D020760] synonym: "spinal cord ischemia, experimental" RELATED [MESH:D020760] synonym: "spinal cord Ischemias" RELATED [MESH:D020760] @@ -387860,6 +392561,7 @@ synonym: "adult glioblastoma multiforme" EXACT [NCIT:C9094] synonym: "glioblastoma" BROAD [NCIT:C9094] synonym: "grade IV adult astrocytic neoplasm" EXACT [NCIT:C9094] synonym: "grade IV adult astrocytic tumor" EXACT [NCIT:C9094] +synonym: "grade IV adult astrocytic tumour" EXACT OMO:0003005 [] xref: NCIT:C9094 {source="MONDO:equivalentTo"} xref: UMLS:C0278878 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C9094"} is_a: MONDO:0004320 {source="NCIT:C9094"} ! adult infiltrating astrocytic neoplasm @@ -387993,6 +392695,7 @@ id: MONDO:0020703 name: erythroid neoplasm synonym: "erythroid neoplasm" EXACT [NCIT:C7064] synonym: "erythroid tumor" EXACT [NCIT:C7064] +synonym: "erythroid tumour" EXACT OMO:0003005 [] xref: NCIT:C7064 {source="MONDO:equivalentTo"} xref: UMLS:C1333438 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C7064"} is_a: MONDO:0005170 {source="NCIT:C7064"} ! myeloid neoplasm @@ -388177,6 +392880,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0020717 name: autosomal dominant wooly hair synonym: "ADWH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:194300] +synonym: "woolly hair, autosomal dominant" EXACT OMO:0003005 [] synonym: "wooly hair, autosomal dominant" EXACT [OMIM:194300, OMIM:genemap2] xref: DOID:0111573 {source="MONDO:equivalentTo"} xref: OMIM:194300 {source="MONDO:equivalentTo", source="Orphanet:170", source="Orphanet:170/e"} @@ -388227,6 +392931,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0020721 name: X-linked sideroblastic anemia 1 subset: ordo_disease {source="Orphanet:75563"} +synonym: "anaemia hereditary sideroblastic" RELATED OMO:0003005 [] +synonym: "anaemia sex-linked hypochromic sideroblastic" RELATED OMO:0003005 [] synonym: "anemia hereditary sideroblastic" RELATED [GARD:0009456] synonym: "anemia sex-linked hypochromic sideroblastic" RELATED [GARD:0009456] synonym: "anemia, hereditary sideroblastic" RELATED [OMIM:300751] @@ -388236,11 +392942,15 @@ synonym: "anemia, sideroblastic, 1, X-linked recessive" EXACT [OMIM:300751, OMIM synonym: "anemia, sideroblastic, X-linked" RELATED [MONDO:Lexical, OMIM:300751] synonym: "ANH1" RELATED ABBREVIATION [GARD:0009456] synonym: "erythroid 5-aminolevulinate synthase deficiency" RELATED [GARD:0009456] +synonym: "hereditary iron-loading Anaemia" RELATED OMO:0003005 [] synonym: "hereditary iron-loading Anemia" RELATED [OMIM:300751] synonym: "SIDBA1" RELATED ABBREVIATION [OMIM:300751] +synonym: "sideroblastic anaemia X-linked" RELATED OMO:0003005 [] synonym: "sideroblastic anemia X-linked" RELATED [GARD:0009456] synonym: "sideroblastic anemia, X-linked" EXACT [MONDO:patterns/x_linked] +synonym: "X chromosome-linked sideroblastic anaemia" RELATED OMO:0003005 [] synonym: "X chromosome-linked sideroblastic anemia" RELATED [GARD:0009456] +synonym: "X-linked sideroblastic anaemia" EXACT OMO:0003005 [] synonym: "X-linked sideroblastic anemia" EXACT [MONDO:0010419] synonym: "XLSA" EXACT ABBREVIATION [DOID:0060063, MONDO:Lexical, OMIM:300751, Orphanet:75563] xref: DOID:0060063 {source="MONDO:equivalentTo"} @@ -388333,6 +393043,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0020725 name: anemia due to chronic disorder def: "Anemia due to a disorder that is persistent or long-standing in nature." [NCIT:C35659] +synonym: "anaemia due to Chronic Disorder" RELATED OMO:0003005 [] +synonym: "anaemia of chronic disease" EXACT OMO:0003005 [] +synonym: "anaemia of chronic disorder" RELATED OMO:0003005 [] +synonym: "anaemia of chronic illness" EXACT OMO:0003005 [] +synonym: "anaemia of chronic inflammation" EXACT OMO:0003005 [] +synonym: "anaemia of systemic disease" RELATED OMO:0003005 [] synonym: "anemia due to Chronic Disorder" RELATED [NCIT:C35659] synonym: "anemia due to chronic disorder" EXACT [NCIT:C35659] synonym: "anemia of chronic disease" EXACT [NCIT:C35659, UMLS:C0002873] @@ -388340,6 +393056,7 @@ synonym: "anemia of chronic disorder" RELATED [UMLS:C0002873] synonym: "anemia of chronic illness" EXACT [NCIT:C35659] synonym: "anemia of chronic inflammation" EXACT [NCIT:C35659] synonym: "anemia of systemic disease" RELATED [UMLS:C0002873] +synonym: "Secondary anaemia" RELATED OMO:0003005 [] synonym: "Secondary anemia" RELATED [UMLS:C0002873] xref: ICD9:285.29 xref: NCIT:C35659 {source="MONDO:equivalentTo", source="UMLS:C0002873"} @@ -388946,6 +393663,7 @@ name: Brown-Pearce carcinoma synonym: "Brown-Pearce carcinoma" EXACT [MESH:D002284] synonym: "Brown-Pearce epithelioma" EXACT [MESH:D002284] synonym: "Brown-Pearce tumor" EXACT [] +synonym: "Brown-Pearce tumour" EXACT OMO:0003005 [] synonym: "carcinoma, Brown Pearce" EXACT [MESH:D002284] synonym: "carcinoma, Brown-Pearce" EXACT [MESH:D002284] synonym: "epithelioma, Brown Pearce" EXACT [MESH:D002284] @@ -389196,6 +393914,7 @@ id: MONDO:0020781 name: encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 synonym: "encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy" BROAD [OMIM:617186, OMIM:genemap2] synonym: "ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1" RELATED [OMIM:617186] +synonym: "encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy" BROAD OMO:0003005 [] synonym: "NAD(P)HX epimerase deficiency" EXACT [Orphanet:555407] synonym: "PEBEL1" RELATED ABBREVIATION [OMIM:617186] xref: EFO:0009158 {source="MONDO:equivalentTo"} @@ -389460,6 +394179,7 @@ id: MONDO:0020799 name: basal cell neoplasm def: "A neoplastic proliferation of basal cells in the epidermis (part of the skin) or other anatomic sites (most frequently the salivary glands). The basal cell neoplastic proliferation in the epidermis results in basal cell carcinomas. The basal cell neoplastic proliferation in the salivary glands can be benign, resulting in basal cell adenomas or malignant, resulting in basal cell adenocarcinomas." [NCIT:C3784] synonym: "basal cell tumor" EXACT [NCIT:C3784] +synonym: "basal cell tumour" EXACT OMO:0003005 [] synonym: "neoplasm, basal cell" RELATED [MESH:D018295] xref: ICDO:8090/1 {source="NCIT:C3784"} xref: MESH:D018295 {source="MONDO:equivalentTo"} @@ -389542,6 +394262,7 @@ id: MONDO:0020805 name: benign basal cell neoplasm def: "A neoplasm composed of basal cells that remains localized and does not metastasize to other anatomic sites." [NCIT:C4743] synonym: "benign basal cell tumor" EXACT [] +synonym: "benign basal cell tumour" EXACT OMO:0003005 [] xref: NCIT:C4743 {source="MONDO:equivalentTo"} xref: UMLS:C0474802 {source="NCIT:C4743"} is_a: MONDO:0020799 {source="NCIT:C4743"} ! basal cell neoplasm @@ -389561,7 +394282,9 @@ id: MONDO:0020807 name: ovarian sertoli-stromal cell tumor def: "A sex cord-stromal tumor that arises from the ovary and is composed entirely of, or in various combinations of, Sertoli cells, Leydig cells, and fibroblast-like cells." [NCIT:P378] synonym: "Ovarian Sertoli-Stromal Cell Tumor" EXACT [NCIT:C39966] +synonym: "Ovarian Sertoli-Stromal Cell Tumour" EXACT OMO:0003005 [] synonym: "Ovarian Sertoli-Stromal Tumor" EXACT [NCIT:C39966] +synonym: "Ovarian Sertoli-Stromal Tumour" EXACT OMO:0003005 [] xref: NCIT:C39966 {source="MONDO:equivalentTo"} xref: UMLS:C1518732 {source="NCIT:C39966"} is_a: MONDO:0021657 {source="NCIT:C39966"} ! ovarian sex cord-stromal tumor @@ -389574,10 +394297,13 @@ synonym: "Sertoli Cell Neoplasm of Testis" EXACT [] synonym: "Sertoli Cell Neoplasm of the Testis" EXACT [] synonym: "Sertoli Cell Tumor of Testis" EXACT [] synonym: "Sertoli Cell Tumor of the Testis" EXACT [] +synonym: "Sertoli Cell Tumour of Testis" EXACT OMO:0003005 [] +synonym: "Sertoli Cell Tumour of the Testis" EXACT OMO:0003005 [] synonym: "Testicular Sertoli Cell Neoplasm" EXACT [] synonym: "Testicular Sertoli Cell Tumor" EXACT [] synonym: "Testicular Sertoli Cell Tumor, NOS" EXACT [] synonym: "Testicular Sertoli Cell Tumor, Not Otherwise Specified" EXACT [] +synonym: "Testicular Sertoli Cell Tumour" EXACT OMO:0003005 [] xref: NCIT:C4672 {source="MONDO:equivalentTo"} xref: UMLS:C0349671 {source="NCIT:C4672"} is_a: MONDO:0002696 {source="NCIT:C4672"} ! Sertoli cell tumor @@ -389591,6 +394317,7 @@ name: benign sertoli cell tumor def: "A Sertoli cell tumor of the testis or the ovary which remains localized and does not metastasize to another anatomic site." [NCIT:P378] synonym: "Benign Androblastoma" EXACT [] synonym: "Benign Sertoli Cell Tumor" EXACT [] +synonym: "Benign Sertoli Cell Tumour" EXACT OMO:0003005 [] synonym: "SERTOLI CELL TUMOR, BENIGN" EXACT [] xref: ICDO:8630/0 {source="NCIT:C67012"} xref: NCIT:C67012 {source="MONDO:equivalentTo"} @@ -389640,6 +394367,8 @@ synonym: "benign sertoli cell neoplasm of testis" EXACT [NCIT:C6522] synonym: "benign sertoli cell neoplasm of the testis" EXACT [NCIT:C6522] synonym: "benign sertoli cell tumor of testis" EXACT [NCIT:C6522] synonym: "benign sertoli cell tumor of the testis" EXACT [NCIT:C6522] +synonym: "benign sertoli cell tumour of testis" EXACT OMO:0003005 [] +synonym: "benign sertoli cell tumour of the testis" EXACT OMO:0003005 [] synonym: "benign testicular sertoli cell neoplasm" EXACT [NCIT:C6522] synonym: "benign testicular sertoli cell tumor" EXACT [NCIT:C6522] xref: NCIT:C6522 {source="MONDO:equivalentTo"} @@ -390319,7 +395048,9 @@ relationship: has_characteristic MONDO:0021136 {source="GARD:0010468"} ! rare id: MONDO:0020989 name: hereditary persistence of fetal hemoglobin def: "The persistence of substantial fetal hemoglobin production into adulthood, usually associated with hemoglobinopathies due to mutations in the alpha and/or beta chain of hemoglobin." [NCIT:C129072] +synonym: "Disease, Haemoglobin F" RELATED OMO:0003005 [] synonym: "Disease, Hemoglobin F" RELATED [MESH:D017086] +synonym: "Haemoglobin F Disease" RELATED OMO:0003005 [] synonym: "Hb F disease" RELATED [UMLS:C0019025] synonym: "HEMOGLOBIN F DIS" RELATED [MESH:D017086] synonym: "Hemoglobin F Disease" RELATED [MESH:D017086] @@ -390327,7 +395058,10 @@ synonym: "HEREDITARY PERSISTENCE of FETAL HEMOGLOBIN" RELATED [OMIM:141900, OMIM synonym: "Hereditary Persistence of Fetal Hemoglobin" RELATED [NCIT:C129072] synonym: "Hereditary persistence of fetal hemoglobin" RELATED [UMLS:C0019025] synonym: "hereditary persistence of fetal hemoglobin" EXACT [NCIT:C129072] +synonym: "Hereditary Persistence of Foetal Haemoglobin" RELATED OMO:0003005 [] +synonym: "Hereditary persistence of foetal haemoglobin" RELATED OMO:0003005 [] synonym: "HPFH - Hereditary persistence of fetal hemoglobin" RELATED [UMLS:C0019025] +synonym: "HPFH - Hereditary persistence of foetal haemoglobin" RELATED OMO:0003005 [] xref: ICD9:282.7 xref: MESH:D017086 {source="UMLS:C0019025"} xref: NCIT:C129072 {source="UMLS:C0019025", source="MONDO:equivalentTo"} @@ -390921,13 +395655,19 @@ name: Ewing sarcoma/peripheral primitive neuroectodermal tumor def: "A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. These tumors may occur in the soft tissues or the bones. Pain and the presence of a mass are the most common clinical symptoms." [NCIT:C27291] synonym: "EFTs" EXACT [NCIT:C27291] synonym: "Ewing family of tumors" EXACT [NCIT:C27291, Wikipedia:Ewing_family_of_tumors] +synonym: "Ewing family of tumours" EXACT OMO:0003005 [] synonym: "Ewing sarcoma family of tumors" EXACT [NCIT:C27291] +synonym: "Ewing sarcoma family of tumours" EXACT OMO:0003005 [] synonym: "Ewing sarcoma/peripheral PNET" EXACT [NCIT:C27291] synonym: "Ewing sarcoma/peripheral primitive neuroectodermal tumor" EXACT [NCIT:C27291] synonym: "Ewing's family of tumors" EXACT [NCIT:C27291] +synonym: "Ewing's family of tumours" EXACT OMO:0003005 [] synonym: "Ewing's sarcoma/peripheral primitive neuroectodermal tumor" EXACT [NCIT:C27291] +synonym: "Ewing's sarcoma/peripheral primitive neuroectodermal tumour" EXACT OMO:0003005 [] synonym: "tumors of Ewing's family" EXACT [NCIT:C27291] synonym: "tumors of the Ewing's family" EXACT [NCIT:C27291] +synonym: "tumours of Ewing's family" EXACT OMO:0003005 [] +synonym: "tumours of the Ewing's family" EXACT OMO:0003005 [] xref: NCIT:C27291 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: UMLS:C0684337 {source="NCIT:C27291"} xref: UMLS:C3536893 {source="MONDO:equivalentTo"} @@ -390938,9 +395678,13 @@ id: MONDO:0021039 name: extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor def: "A spectrum of malignant tumors arising from the soft tissues, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms." [NCIT:C27293] synonym: "extraosseous Ewing sarcoma/peripheral primitive neuroectodermal tumor" EXACT [NCIT:C27293] +synonym: "extraosseous Ewing sarcoma/peripheral primitive neuroectodermal tumour" EXACT OMO:0003005 [] synonym: "extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumor" EXACT [NCIT:C27293] +synonym: "extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumour" EXACT OMO:0003005 [] synonym: "extraosseous Ewing's tumor" RELATED [DOID:4985, NCIT:C7135] +synonym: "extraosseous Ewing's tumour" RELATED OMO:0003005 [] synonym: "extraosseous Ewings sarcoma-primitive neuroepithelial tumor" EXACT [MONDO:0003230] +synonym: "extraosseous Ewings sarcoma-primitive neuroepithelial tumour" EXACT OMO:0003005 [] synonym: "extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor" EXACT [NCIT:C27293] xref: DOID:4985 {source="MONDO:equivalentTo"} xref: EFO:1000250 {source="MONDO:equivalentTo"} @@ -390960,10 +395704,14 @@ synonym: "pancreas" RELATED [ONCOTREE:PANCREAS] synonym: "pancreas neoplasm" EXACT [NCIT:C3305] synonym: "pancreas neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "pancreas tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3305] +synonym: "pancreas tumour" EXACT OMO:0003005 [] synonym: "pancreatic neoplasm" EXACT [NCIT:C3305] synonym: "pancreatic tumor" EXACT [NCIT:C3305] +synonym: "pancreatic tumour" EXACT OMO:0003005 [] synonym: "tumor of pancreas" EXACT [MONDO:patterns/neoplasm, NCIT:C3305] synonym: "tumor of the pancreas" EXACT [NCIT:C3305] +synonym: "tumour of pancreas" EXACT OMO:0003005 [] +synonym: "tumour of the pancreas" EXACT OMO:0003005 [] xref: EFO:0003860 {source="MONDO:equivalentTo"} xref: MESH:D010190 {source="MONDO:equivalentTo"} xref: NCIT:C12393 {source="ONCOTREE:PANCREAS"} @@ -390982,15 +395730,21 @@ name: pleural solitary fibrous tumor def: "A localized neoplasm of probable fibroblastic derivation, that arises from the pleura. It is characterized by the presence of round to spindle-shaped cells, hylanized stroma formation, thin-walled branching blood vessels, and thin bands of collagen." [NCIT:C4457] synonym: "fibroma of pleura" EXACT [NCIT:C4457] synonym: "fibroma of the pleura" EXACT [NCIT:C4457] +synonym: "localised fibrous mesothelioma of pleura" EXACT OMO:0003005 [] +synonym: "localised fibrous mesothelioma of the pleura" EXACT OMO:0003005 [] synonym: "localized fibrous mesothelioma of pleura" EXACT [NCIT:C4457] synonym: "localized fibrous mesothelioma of the pleura" EXACT [NCIT:C4457] synonym: "pleura solitary fibrous tumor" EXACT [MONDO:patterns/location] +synonym: "pleura solitary fibrous tumour" EXACT OMO:0003005 [] synonym: "pleural cavity solitary fibrous tumor" EXACT [MONDO:patterns/location] +synonym: "pleural cavity solitary fibrous tumour" EXACT OMO:0003005 [] synonym: "pleural fibroma" EXACT [NCIT:C4457] synonym: "pleural solitary fibrous tumor" EXACT [NCIT:C4457] synonym: "pleural Submesothelial fibroma" EXACT [NCIT:C4457] synonym: "solitary fibrous tumor of pleura" EXACT [NCIT:C4457] synonym: "solitary fibrous tumor of the pleura" EXACT [NCIT:C4457] +synonym: "solitary fibrous tumour of pleura" EXACT OMO:0003005 [] +synonym: "solitary fibrous tumour of the pleura" EXACT OMO:0003005 [] xref: EFO:1000835 {source="MONDO:equivalentTo"} xref: NCIT:C4457 {source="MONDO:equivalentTo"} xref: SCTID:254646001 {source="MONDO:equivalentTo"} @@ -391006,13 +395760,17 @@ name: glioma def: "A benign or malignant brain and spinal cord tumor that arises from glial cells (astrocytes, oligodendrocytes, ependymal cells). Tumors that arise from astrocytes are called astrocytic tumors or astrocytomas. Tumors that arise from oligodendrocytes are called oligodendroglial tumors. Tumors that arise from ependymal cells are called ependymomas." [NCIT:C3059] synonym: "glial neoplasm" EXACT [NCIT:C3059] synonym: "glial tumor" EXACT [NCIT:C3059] +synonym: "glial tumour" EXACT OMO:0003005 [] synonym: "glioma" EXACT [NCIT:C3059] synonym: "neoplasm of neuroglia" EXACT [NCIT:C3059] synonym: "neoplasm of the neuroglia" EXACT [NCIT:C3059] synonym: "neuroglial neoplasm" EXACT [NCIT:C3059] synonym: "neuroglial tumor" EXACT [NCIT:C3059] +synonym: "neuroglial tumour" EXACT OMO:0003005 [] synonym: "tumor of neuroglia" EXACT [NCIT:C3059] synonym: "tumor of the neuroglia" EXACT [NCIT:C3059] +synonym: "tumour of neuroglia" EXACT OMO:0003005 [] +synonym: "tumour of the neuroglia" EXACT OMO:0003005 [] xref: MESH:D005910 {source="MONDO:equivalentTo"} xref: NCIT:C3059 {source="MONDO:equivalentTo"} xref: Orphanet:182067 {source="https://github.com/monarch-initiative/mondo/issues/2932", source="MONDO:equivalentTo"} @@ -391028,6 +395786,7 @@ name: mixed neoplasm def: "A neoplasm composed of at least two distinct cellular populations." [NCIT:C6930] synonym: "mixed neoplasm" EXACT [NCIT:C6930] synonym: "mixed tumor" EXACT [NCIT:C6930] +synonym: "mixed tumour" EXACT OMO:0003005 [] xref: ICDO:8940/1 {source="NCIT:C6930"} xref: MESH:D018193 {source="MONDO:equivalentTo"} xref: NCIT:C6930 {source="MONDO:equivalentTo"} @@ -391047,6 +395806,7 @@ name: fibroepithelial neoplasm def: "A benign, borderline, or malignant neoplasm characterized by the presence of an epithelial and a fibrous component. Representative examples are fibroadenoma and phyllodes tumor." [NCIT:C3743] synonym: "fibroepithelial neoplasm" EXACT [MONDO:0005760, NCIT:C3743] synonym: "fibroepithelial tumor" EXACT [NCIT:C3743] +synonym: "fibroepithelial tumour" EXACT OMO:0003005 [] xref: DOID:153 {source="EFO:0007271", source="MONDO:obsolete"} xref: EFO:0007271 {source="MONDO:equivalentTo"} xref: MESH:D018225 {source="MONDO:equivalentTo", source="EFO:0007271"} @@ -391063,6 +395823,7 @@ synonym: "BFN" RELATED ABBREVIATION [ONCOTREE:BFN] synonym: "breast fibroepithelial neoplasm" EXACT [MONDO:patterns/location, NCIT:C40405] synonym: "breast fibroepithelial neoplasms" RELATED [ONCOTREE:BFN] synonym: "breast fibroepithelial tumor" EXACT [NCIT:C40405] +synonym: "breast fibroepithelial tumour" EXACT OMO:0003005 [] xref: NCIT:C40405 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: ONCOTREE:BFN {source="MONDO:equivalentTo"} xref: UMLS:C1511309 {source="NCIT:C40405", source="MONDO:equivalentTo"} @@ -391084,10 +395845,13 @@ synonym: "cystosarcoma phylloides - breast" EXACT [NCIT:C7575] synonym: "cystosarcoma phylloides of the breast" EXACT [NCIT:C7575] synonym: "phyllodes breast neoplasm" EXACT [NCIT:C7575] synonym: "phyllodes breast tumor" EXACT [NCIT:C7575] +synonym: "phyllodes breast tumour" EXACT OMO:0003005 [] synonym: "phyllodes neoplasm of breast" EXACT [NCIT:C7575] synonym: "phyllodes neoplasm of the breast" EXACT [NCIT:C7575] synonym: "phyllodes tumor of breast" EXACT [NCIT:C7575] synonym: "phyllodes tumor of the breast" EXACT [NCIT:C7575] +synonym: "phyllodes tumour of breast" EXACT OMO:0003005 [] +synonym: "phyllodes tumour of the breast" EXACT OMO:0003005 [] xref: NCIT:C7575 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: ONCOTREE:PT {source="MONDO:equivalentTo"} xref: SCTID:712989008 {source="MONDO:equivalentTo"} @@ -391126,17 +395890,23 @@ def: "A benign or malignant neoplasm that affects the vulva. Representative exam synonym: "mammalian vulva neoplasm" EXACT [] synonym: "mammalian vulva neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "mammalian vulva tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "mammalian vulva tumour" EXACT OMO:0003005 [] synonym: "neoplasm of mammalian vulva" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the vulva" EXACT [NCIT:C3443] synonym: "neoplasm of vulva" EXACT [NCIT:C3443] synonym: "tumor of mammalian vulva" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of the vulva" EXACT [NCIT:C3443] synonym: "tumor of vulva" EXACT [NCIT:C3443] +synonym: "tumour of mammalian vulva" EXACT OMO:0003005 [] +synonym: "tumour of the vulva" EXACT OMO:0003005 [] +synonym: "tumour of vulva" EXACT OMO:0003005 [] synonym: "vulva neoplasm" EXACT [NCIT:C3443] synonym: "vulva tumor" EXACT [NCIT:C3443] +synonym: "vulva tumour" EXACT OMO:0003005 [] synonym: "vulval neoplasm" EXACT [DOID:1245] synonym: "vulvar neoplasm" EXACT [DOID:1245, NCIT:C3443] synonym: "vulvar tumor" EXACT [DOID:1245, NCIT:C3443] +synonym: "vulvar tumour" EXACT OMO:0003005 [] xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C3443 {source="MONDO:equivalentTo"} xref: SCTID:126922007 {source="MONDO:equivalentTo"} @@ -391155,11 +395925,15 @@ synonym: "neoplasm of the vagina" EXACT [NCIT:C3437] synonym: "neoplasm of vagina" EXACT [MONDO:patterns/neoplasm, NCIT:C3437] synonym: "tumor of the vagina" EXACT [NCIT:C3437] synonym: "tumor of vagina" EXACT [MONDO:patterns/neoplasm, NCIT:C3437] +synonym: "tumour of the vagina" EXACT OMO:0003005 [] +synonym: "tumour of vagina" EXACT OMO:0003005 [] synonym: "vagina neoplasm" EXACT [NCIT:C3437] synonym: "vagina neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "vagina tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3437] +synonym: "vagina tumour" EXACT OMO:0003005 [] synonym: "vaginal neoplasm" EXACT [NCIT:C3437] synonym: "vaginal tumor" EXACT [NCIT:C3437] +synonym: "vaginal tumour" EXACT OMO:0003005 [] xref: EFO:1001447 {source="MONDO:equivalentTo"} xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C3437 {source="MONDO:equivalentTo"} @@ -391200,12 +395974,15 @@ def: "A benign or malignant extra-adrenal parasympathetic paraganglioma arising synonym: "carotid body chemodectoma" RELATED [NCIT:C2932] synonym: "carotid body paraganglioma" EXACT [MONDO:patterns/location, NCIT:C2932] synonym: "carotid body tumor" RELATED [NCIT:C2932] +synonym: "carotid body tumour" RELATED OMO:0003005 [] synonym: "chemodectoma" RELATED [NCIT:C2932] synonym: "chemodectoma, undetermined" RELATED [NCIT:C2932] synonym: "paraganglioma of carotid body" EXACT [NCIT:C2932] synonym: "paraganglioma of the carotid body" RELATED [NCIT:C2932] synonym: "tumor of carotid body" RELATED [NCIT:C2932] synonym: "tumor of the carotid body" RELATED [NCIT:C2932] +synonym: "tumour of carotid body" RELATED OMO:0003005 [] +synonym: "tumour of the carotid body" RELATED OMO:0003005 [] xref: ICDO:8692/1 {source="NCIT:C2932"} xref: NCIT:C2932 {source="MONDO:equivalentTo"} xref: UMLS:C0007279 {source="MONDO:equivalentTo", source="NCIT:C2932"} @@ -391339,6 +396116,7 @@ def: "A broad classification for disorders in which the development of neoplasms synonym: "cancer-related syndrome" EXACT [NCIT:C54705] synonym: "neoplastic syndrome" EXACT [NCIT:C54705] synonym: "tumor syndrome" EXACT [NCIT:C54705] +synonym: "tumour syndrome" EXACT OMO:0003005 [] xref: NCIT:C54705 {source="MONDO:equivalentTo"} xref: UMLS:C1882062 {source="NCIT:C54705", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C54705"} ! syndromic disease @@ -391444,12 +396222,16 @@ synonym: "colon neoplasm, malignant" EXACT [NCIT:C9242] synonym: "colon tumor, malignant" EXACT [NCIT:C9242] synonym: "malignant colon neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C9242] synonym: "malignant colon tumor" EXACT [NCIT:C9242] +synonym: "malignant colon tumour" EXACT OMO:0003005 [] synonym: "malignant colonic neoplasm" EXACT [NCIT:C9242] synonym: "malignant colonic tumor" EXACT [NCIT:C9242] +synonym: "malignant colonic tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of colon" EXACT [MONDO:patterns/cancer, NCIT:C9242] synonym: "malignant neoplasm of the colon" EXACT [NCIT:C9242] synonym: "malignant tumor of colon" EXACT [NCIT:C9242] synonym: "malignant tumor of the colon" EXACT [NCIT:C9242] +synonym: "malignant tumour of colon" EXACT OMO:0003005 [] +synonym: "malignant tumour of the colon" EXACT OMO:0003005 [] xref: DOID:219 {source="EFO:0004288", source="MONDO:equivalentTo"} xref: ICD10CM:C18 {source="DOID:219"} xref: ICD10CM:C18.9 {source="DOID:219"} @@ -391477,10 +396259,13 @@ subset: gard_rare synonym: "basicranium parasympathetic paraganglioma" EXACT [MONDO:patterns/location] synonym: "glomus jugulare neoplasm" EXACT [NCIT:C3061] synonym: "glomus jugulare tumor" EXACT [NCIT:C3061] +synonym: "glomus jugulare tumour" EXACT OMO:0003005 [] synonym: "Glomus tumor" RELATED [GARD:0010599] +synonym: "Glomus tumour" RELATED OMO:0003005 [] synonym: "jugular body neoplasm" EXACT [] synonym: "jugular body neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "jugular body tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "jugular body tumour" EXACT OMO:0003005 [] synonym: "jugular paraganglioma" EXACT [NCIT:C3061] synonym: "jugulotympanic paraganglioma" EXACT [NCIT:C3061] synonym: "neoplasm of glomus jugulare" EXACT [NCIT:C3061] @@ -391491,6 +396276,9 @@ synonym: "parasympathetic paraganglioma of basicranium" EXACT [MONDO:design_patt synonym: "tumor of glomus jugulare" EXACT [NCIT:C3061] synonym: "tumor of jugular body" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of the glomus jugulare" EXACT [NCIT:C3061] +synonym: "tumour of glomus jugulare" EXACT OMO:0003005 [] +synonym: "tumour of jugular body" EXACT OMO:0003005 [] +synonym: "tumour of the glomus jugulare" EXACT OMO:0003005 [] xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:8690/1 {source="NCIT:C3061"} xref: NCIT:C3061 {source="MONDO:equivalentTo"} @@ -391512,12 +396300,17 @@ synonym: "neoplasm of the pleura" EXACT [NCIT:C3332] synonym: "pleura neoplasm" EXACT [] synonym: "pleura neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "pleura tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "pleura tumour" EXACT OMO:0003005 [] synonym: "pleural cavity neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "pleural cavity tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "pleural cavity tumour" EXACT OMO:0003005 [] synonym: "pleural neoplasm" EXACT [NCIT:C3332] synonym: "pleural tumor" EXACT [NCIT:C3332] +synonym: "pleural tumour" EXACT OMO:0003005 [] synonym: "tumor of pleura" EXACT [MONDO:patterns/neoplasm, NCIT:C3332] synonym: "tumor of the pleura" EXACT [NCIT:C3332] +synonym: "tumour of pleura" EXACT OMO:0003005 [] +synonym: "tumour of the pleura" EXACT OMO:0003005 [] xref: MESH:D010997 {source="MONDO:equivalentTo"} xref: NCIT:C12469 {source="ONCOTREE:PLEURA"} xref: NCIT:C3332 {source="MONDO:equivalentTo"} @@ -391543,15 +396336,23 @@ synonym: "neoplasm of urinary tract" EXACT [NCIT:C3431] synonym: "renal system neoplasm" EXACT [] synonym: "renal system neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "renal system tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "renal system tumour" EXACT OMO:0003005 [] synonym: "tumor of renal system" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of the urinary system" EXACT [NCIT:C3431] synonym: "tumor of the urinary tract" EXACT [NCIT:C3431] synonym: "tumor of urinary system" EXACT [NCIT:C3431] synonym: "tumor of urinary tract" EXACT [NCIT:C3431] +synonym: "tumour of renal system" EXACT OMO:0003005 [] +synonym: "tumour of the urinary system" EXACT OMO:0003005 [] +synonym: "tumour of the urinary tract" EXACT OMO:0003005 [] +synonym: "tumour of urinary system" EXACT OMO:0003005 [] +synonym: "tumour of urinary tract" EXACT OMO:0003005 [] synonym: "urinary system neoplasm" EXACT [NCIT:C3431] synonym: "urinary system tumor" EXACT [NCIT:C3431] +synonym: "urinary system tumour" EXACT OMO:0003005 [] synonym: "urinary tract neoplasm" EXACT [NCIT:C3431] synonym: "urinary tract tumor" EXACT [NCIT:C3431] +synonym: "urinary tract tumour" EXACT OMO:0003005 [] xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C3431 {source="MONDO:equivalentTo"} xref: ONCOTREE:BLADDER {source="MONDO:equivalentTo"} @@ -391569,10 +396370,14 @@ synonym: "germ cell neoplasm of mediastinum" EXACT [NCIT:C6437] synonym: "germ cell neoplasm of the mediastinum" EXACT [NCIT:C6437] synonym: "germ cell tumor of mediastinum" EXACT [NCIT:C6437] synonym: "germ cell tumor of the mediastinum" EXACT [NCIT:C6437] +synonym: "germ cell tumour of mediastinum" EXACT OMO:0003005 [] +synonym: "germ cell tumour of the mediastinum" EXACT OMO:0003005 [] synonym: "mediastinal germ cell neoplasm" EXACT [NCIT:C6437] synonym: "mediastinal germ cell tumor" EXACT [NCIT:C6437] synonym: "mediastinum germ cell tumor" EXACT [MONDO:patterns/location] +synonym: "mediastinum germ cell tumour" EXACT OMO:0003005 [] synonym: "thymic germ cell tumor" EXACT [NCIT:C6437] +synonym: "thymic germ cell tumour" EXACT OMO:0003005 [] xref: NCIT:C6437 {source="MONDO:equivalentTo"} xref: UMLS:C1334655 {source="MONDO:equivalentTo", source="NCIT:C6437"} is_a: MONDO:0018201 {source="NCIT:C6437"} ! extragonadal germ cell tumor @@ -391589,11 +396394,16 @@ synonym: "neoplasm of the ovary" EXACT [NCIT:C4984] synonym: "ovarian neoplasm" EXACT [NCIT:C4984] synonym: "ovarian tumor" EXACT [NCIT:C4984] synonym: "ovarian tumors" EXACT [NCIT:C4984] +synonym: "ovarian tumour" EXACT OMO:0003005 [] +synonym: "ovarian tumours" EXACT OMO:0003005 [] synonym: "ovary neoplasm" EXACT [] synonym: "ovary neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "ovary tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "ovary tumour" EXACT OMO:0003005 [] synonym: "tumor of ovary" EXACT [MONDO:patterns/neoplasm, NCIT:C4984] synonym: "tumor of the ovary" EXACT [NCIT:C4984] +synonym: "tumour of ovary" EXACT OMO:0003005 [] +synonym: "tumour of the ovary" EXACT OMO:0003005 [] xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C4984 {source="MONDO:equivalentTo"} xref: SCTID:123843001 {source="MONDO:equivalentTo"} @@ -391615,15 +396425,19 @@ synonym: "endocrine gland cancer" EXACT [MONDO:patterns/location] synonym: "endocrine neoplasm" BROAD [DOID:170] synonym: "endocrine neoplasm, malignant" EXACT [NCIT:C3575] synonym: "Endocrine tumor" EXACT [DOID:170] +synonym: "Endocrine tumour" EXACT OMO:0003005 [] synonym: "malignant endocrine gland neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3575] synonym: "malignant endocrine gland tumor" EXACT [NCIT:C3575] +synonym: "malignant endocrine gland tumour" EXACT OMO:0003005 [] synonym: "malignant endocrine neoplasm" EXACT [NCIT:C3575] synonym: "malignant endocrine tumor" EXACT [NCIT:C3575] +synonym: "malignant endocrine tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of endocrine gland" EXACT [MONDO:patterns/cancer, NCIT:C3575] synonym: "malignant neoplasm of the endocrine gland" EXACT [NCIT:C3575] -synonym: "malignant tumor of endocrine gland" EXACT [DOID:170] -synonym: "malignant tumor of endocrine gland" EXACT [NCIT:C3575] +synonym: "malignant tumor of endocrine gland" EXACT [DOID:170, NCIT:C3575] synonym: "malignant tumor of the endocrine gland" EXACT [NCIT:C3575] +synonym: "malignant tumour of endocrine gland" EXACT OMO:0003005 [] +synonym: "malignant tumour of the endocrine gland" EXACT OMO:0003005 [] synonym: "neoplasm of endocrine gland" RELATED EXCLUDE [DOID:170] synonym: "neoplasm of endocrine system" EXACT [DOID:170] xref: DOID:170 {source="MONDO:equivalentTo"} @@ -391668,13 +396482,17 @@ name: laryngeal neoplasm def: "A benign or malignant neoplasm involving the larynx." [NCIT:C3156] synonym: "laryngeal neoplasm" EXACT [NCIT:C3156] synonym: "laryngeal tumor" EXACT [NCIT:C3156] +synonym: "laryngeal tumour" EXACT OMO:0003005 [] synonym: "larynx neoplasm" EXACT [NCIT:C3156] synonym: "larynx neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "larynx tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3156] +synonym: "larynx tumour" EXACT OMO:0003005 [] synonym: "neoplasm of larynx" EXACT [MONDO:patterns/neoplasm, NCIT:C3156] synonym: "neoplasm of the larynx" EXACT [NCIT:C3156] synonym: "tumor of larynx" EXACT [MONDO:patterns/neoplasm, NCIT:C3156] synonym: "tumor of the larynx" EXACT [NCIT:C3156] +synonym: "tumour of larynx" EXACT OMO:0003005 [] +synonym: "tumour of the larynx" EXACT OMO:0003005 [] xref: EFO:0003817 {source="MONDO:equivalentTo"} xref: MESH:D007822 {source="MONDO:equivalentTo"} xref: NCIT:C3156 {source="MONDO:equivalentTo"} @@ -391691,6 +396509,7 @@ name: sympathetic paraganglioma def: "A benign or malignant paraganglioma arising from the chromaffin cells of the paraganglia that are located along the sympathetic nerves. It includes extra-adrenal paragangliomas and paragangliomas that arise from the adrenal medulla. The latter are commonly referred to as pheochromocytomas. Representative examples of extra-adrenal sympathetic paragangliomas include the bladder, and superior and inferior paraaortic paragangliomas. Clinical signs are related to the secretion of catecholamines resulting in hypertension." [NCIT:C4216] synonym: "chromaffin neoplasm" EXACT [NCIT:C4216] synonym: "chromaffin tumor" EXACT [NCIT:C4216] +synonym: "chromaffin tumour" EXACT OMO:0003005 [] synonym: "Chromaffinoma" EXACT [NCIT:C4216] synonym: "paraganglioma of sympathetic nervous system" EXACT [MONDO:design_pattern] synonym: "sympathetic nervous system paraganglioma" EXACT [MONDO:patterns/location] @@ -391748,12 +396567,16 @@ def: "A benign or malignant neoplasm that arises from the epithelial cells of th synonym: "exocrine pancreas neoplasm" EXACT [NCIT:C4445] synonym: "exocrine pancreas neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "exocrine pancreas tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4445] +synonym: "exocrine pancreas tumour" EXACT OMO:0003005 [] synonym: "neoplasm of exocrine pancreas" EXACT [MONDO:patterns/neoplasm, NCIT:C4445] synonym: "neoplasm of the exocrine pancreas" EXACT [NCIT:C4445] synonym: "pancreatic exocrine neoplasm" EXACT [NCIT:C4445] synonym: "pancreatic exocrine tumor" EXACT [NCIT:C4445] +synonym: "pancreatic exocrine tumour" EXACT OMO:0003005 [] synonym: "tumor of exocrine pancreas" EXACT [MONDO:patterns/neoplasm, NCIT:C4445] synonym: "tumor of the exocrine pancreas" EXACT [NCIT:C4445] +synonym: "tumour of exocrine pancreas" EXACT OMO:0003005 [] +synonym: "tumour of the exocrine pancreas" EXACT OMO:0003005 [] xref: ICD9:235.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C4445 {source="MONDO:equivalentTo"} xref: SCTID:254604005 {source="MONDO:equivalentTo"} @@ -391768,6 +396591,7 @@ name: cystic neoplasm def: "A benign or malignant neoplasm that contains a single or multiple cystic spaces. Examples include cystadenoma, mucinous cystadenocarcinoma, and serous cystadenocarcinoma." [NCIT:C6784] synonym: "cystic neoplasm" EXACT [NCIT:C6784] synonym: "cystic tumor" EXACT [NCIT:C6784] +synonym: "cystic tumour" EXACT OMO:0003005 [] xref: NCIT:C6784 {source="MONDO:equivalentTo"} xref: UMLS:C1333190 {source="NCIT:C6784", source="MONDO:equivalentTo"} is_a: MONDO:0005070 {source="NCIT:C6784/inferred"} ! neoplasm @@ -391791,8 +396615,12 @@ def: "A benign or malignant neoplasm arising during childhood." [NCIT:C6283] synonym: "childhood neoplasm" EXACT [NCIT:C6283] synonym: "childhood neoplasm (disease)" EXACT [] synonym: "childhood tumor" EXACT [NCIT:C6283] +synonym: "childhood tumour" EXACT OMO:0003005 [] synonym: "neoplasm" BROAD EXCLUDE [NCIT:C6283] synonym: "neoplasm (disease) of childhood" EXACT [MONDO:patterns/childhood] +synonym: "paediatric neoplasm" EXACT OMO:0003005 [] +synonym: "paediatric neoplasm (disease)" EXACT OMO:0003005 [] +synonym: "paediatric tumour" EXACT OMO:0003005 [] synonym: "pediatric neoplasm" EXACT [NCIT:C6283] synonym: "pediatric neoplasm (disease)" EXACT [MONDO:patterns/childhood] synonym: "pediatric tumor" EXACT [NCIT:C6283] @@ -391809,8 +396637,10 @@ def: "A neoplasm arising from arteries or veins." [NCIT:C7387] synonym: "blood vessel neoplasm" EXACT [NCIT:C7387] synonym: "blood vessel neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "blood vessel tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C7387] +synonym: "blood vessel tumour" EXACT OMO:0003005 [] synonym: "neoplasm of blood vessel" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of blood vessel" EXACT [MONDO:patterns/neoplasm] +synonym: "tumour of blood vessel" EXACT OMO:0003005 [] xref: NCIT:C7387 {source="MONDO:equivalentTo"} xref: SCTID:126736007 {source="MONDO:equivalentTo"} xref: UMLS:C0282607 {source="NCIT:C7387", source="MONDO:notFoundInDiseaseSubset"} @@ -391849,8 +396679,10 @@ def: "A neoplasm involving a Meckel's diverticulum." [MONDO:patterns/neoplasm] synonym: "Meckel's diverticulum neoplasm" EXACT [] synonym: "Meckel's diverticulum neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "Meckel's diverticulum tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "Meckel's diverticulum tumour" EXACT OMO:0003005 [] synonym: "neoplasm of Meckel's diverticulum" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of Meckel's diverticulum" EXACT [MONDO:patterns/neoplasm] +synonym: "tumour of Meckel's diverticulum" EXACT OMO:0003005 [] xref: SCTID:126836001 {source="MONDO:equivalentTo"} xref: UMLS:C0345839 {source="MONDO:equivalentTo"} is_a: MONDO:0004251 {source="MONDO:Redundant"} ! small intestine neoplasm @@ -391910,13 +396742,17 @@ name: gastric neoplasm def: "A benign or malignant neoplasm involving the stomach." [NCIT:C3387] synonym: "gastric neoplasm" EXACT [NCIT:C3387] synonym: "gastric tumor" EXACT [NCIT:C3387] +synonym: "gastric tumour" EXACT OMO:0003005 [] synonym: "neoplasm of stomach" EXACT [MONDO:patterns/neoplasm, NCIT:C3387] synonym: "neoplasm of the stomach" EXACT [NCIT:C3387] synonym: "stomach neoplasm" EXACT [NCIT:C3387] synonym: "stomach neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "stomach tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3387] +synonym: "stomach tumour" EXACT OMO:0003005 [] synonym: "tumor of stomach" EXACT [MONDO:patterns/neoplasm, NCIT:C3387] synonym: "tumor of the stomach" EXACT [NCIT:C3387] +synonym: "tumour of stomach" EXACT OMO:0003005 [] +synonym: "tumour of the stomach" EXACT OMO:0003005 [] xref: EFO:0003897 {source="MONDO:equivalentTo"} xref: MESH:D013274 {source="MONDO:equivalentTo"} xref: NCIT:C3387 {source="MONDO:equivalentTo"} @@ -391935,10 +396771,13 @@ def: "A benign or malignant neoplasm that affects the upper or lower gingiva." [ synonym: "gingiva neoplasm" EXACT [] synonym: "gingiva neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "gingiva tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "gingiva tumour" EXACT OMO:0003005 [] synonym: "gingival neoplasm" EXACT [NCIT:C3057] synonym: "gingival tumor" EXACT [NCIT:C3057] +synonym: "gingival tumour" EXACT OMO:0003005 [] synonym: "gum neoplasm" EXACT [NCIT:C3057] synonym: "gum tumor" EXACT [NCIT:C3057] +synonym: "gum tumour" EXACT OMO:0003005 [] synonym: "neoplasm of gingiva" EXACT [MONDO:patterns/neoplasm, NCIT:C3057] synonym: "neoplasm of gum" EXACT [NCIT:C3057] synonym: "neoplasm of the gingiva" EXACT [NCIT:C3057] @@ -391947,6 +396786,10 @@ synonym: "tumor of gingiva" EXACT [MONDO:patterns/neoplasm, NCIT:C3057] synonym: "tumor of gum" EXACT [NCIT:C3057] synonym: "tumor of the gingiva" EXACT [NCIT:C3057] synonym: "tumor of the gum" EXACT [NCIT:C3057] +synonym: "tumour of gingiva" EXACT OMO:0003005 [] +synonym: "tumour of gum" EXACT OMO:0003005 [] +synonym: "tumour of the gingiva" EXACT OMO:0003005 [] +synonym: "tumour of the gum" EXACT OMO:0003005 [] xref: NCIT:C3057 {source="MONDO:equivalentTo"} xref: SCTID:126792007 {source="MONDO:equivalentTo"} xref: UMLS:C0017570 {source="MONDO:equivalentTo", source="NCIT:C3057"} @@ -391986,16 +396829,25 @@ synonym: "malignant neoplasm of the PNS" EXACT [NCIT:C4961] synonym: "malignant neoplasms, peripheral nerve" EXACT [NCIT:C4961] synonym: "malignant peripheral nerve neoplasm" EXACT [NCIT:C4961] synonym: "malignant peripheral nerve tumor" EXACT [NCIT:C4961] +synonym: "malignant peripheral nerve tumour" EXACT OMO:0003005 [] synonym: "malignant peripheral nervous system neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4961] synonym: "malignant peripheral nervous system tumor" EXACT [NCIT:C4961] +synonym: "malignant peripheral nervous system tumour" EXACT OMO:0003005 [] synonym: "malignant PNS neoplasm" EXACT [NCIT:C4961] synonym: "malignant PNS tumor" EXACT [NCIT:C4961] +synonym: "malignant PNS tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of peripheral nerve" EXACT [NCIT:C4961] synonym: "malignant tumor of peripheral nervous system" EXACT [NCIT:C4961] synonym: "malignant tumor of PNS" EXACT [NCIT:C4961] synonym: "malignant tumor of the peripheral nerve" EXACT [NCIT:C4961] synonym: "malignant tumor of the peripheral nervous system" EXACT [NCIT:C4961] synonym: "malignant tumor of the PNS" EXACT [NCIT:C4961] +synonym: "malignant tumour of peripheral nerve" EXACT OMO:0003005 [] +synonym: "malignant tumour of peripheral nervous system" EXACT OMO:0003005 [] +synonym: "malignant tumour of PNS" EXACT OMO:0003005 [] +synonym: "malignant tumour of the peripheral nerve" EXACT OMO:0003005 [] +synonym: "malignant tumour of the peripheral nervous system" EXACT OMO:0003005 [] +synonym: "malignant tumour of the PNS" EXACT OMO:0003005 [] synonym: "peripheral nervous system cancer" EXACT [MONDO:patterns/location] synonym: "peripheral nervous system neoplasms, malignant" EXACT [NCIT:C4961] xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -392045,10 +396897,13 @@ def: "A benign or malignant neoplasm affecting the fallopian tube. Representativ synonym: "fallopian tube neoplasm" EXACT [NCIT:C3032] synonym: "fallopian tube neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "fallopian tube tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3032] +synonym: "fallopian tube tumour" EXACT OMO:0003005 [] synonym: "neoplasm of fallopian tube" EXACT [MONDO:patterns/neoplasm, NCIT:C3032] synonym: "neoplasm of the fallopian tube" EXACT [NCIT:C3032] synonym: "tumor of fallopian tube" EXACT [MONDO:patterns/neoplasm, NCIT:C3032] synonym: "tumor of the fallopian tube" EXACT [NCIT:C3032] +synonym: "tumour of fallopian tube" EXACT OMO:0003005 [] +synonym: "tumour of the fallopian tube" EXACT OMO:0003005 [] xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D005185 {source="MONDO:equivalentTo"} xref: NCIT:C3032 {source="MONDO:equivalentTo"} @@ -392175,11 +397030,14 @@ def: "A benign or malignant neoplasm of the breast parenchyma. It can originate synonym: "breast neoplasm" EXACT [NCIT:C2910] synonym: "breast neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "breast tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C2910] +synonym: "breast tumour" EXACT OMO:0003005 [] synonym: "neoplasm of breast" EXACT [MONDO:patterns/neoplasm, NCIT:C2910] synonym: "neoplasm of the breast" EXACT [NCIT:C2910] synonym: "neoplasm, breast" EXACT [NCIT:C2910] synonym: "tumor of breast" EXACT [MONDO:patterns/neoplasm, NCIT:C2910] synonym: "tumor of the breast" EXACT [NCIT:C2910] +synonym: "tumour of breast" EXACT OMO:0003005 [] +synonym: "tumour of the breast" EXACT OMO:0003005 [] xref: EFO:0003869 {source="MONDO:equivalentTo"} xref: ICD10CM:C50-C50 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:239.3 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -392202,15 +397060,20 @@ id: MONDO:0021101 name: appendix L-cell glucagon-like peptide-producing neuroendocrine tumor def: "A neuroendocrine tumor arising from the wall of the appendix, producing glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns." [NCIT:C27445] synonym: "appendiceal L-cell glucagon-like peptide producing tumor" RELATED [DOID:8151] +synonym: "appendiceal L-cell glucagon-like peptide producing tumour" RELATED OMO:0003005 [] synonym: "appendiceal L-cell glucagon-like peptide-producing NET" RELATED [NCIT:C27445] synonym: "appendiceal L-cell glucagon-like peptide-producing neuroendocrine tumor" RELATED [NCIT:C27445] +synonym: "appendiceal L-cell glucagon-like peptide-producing neuroendocrine tumour" RELATED OMO:0003005 [] synonym: "appendix L-cell glucagon-like peptide-producing NET" RELATED [NCIT:C27445] synonym: "appendix L-cell glucagon-like peptide-producing neuroendocrine tumor" EXACT [NCIT:C27445] synonym: "appendix L-cell NET" RELATED [NCIT:C27445] synonym: "L-cell glucagon-like peptide-producing neuroendocrine tumor of vermiform appendix" EXACT [MONDO:design_pattern] +synonym: "L-cell glucagon-like peptide-producing neuroendocrine tumour of vermiform appendix" EXACT OMO:0003005 [] synonym: "malignant appendiceal glucagonoma" EXACT [DOID:8151] synonym: "malignant appendiceal L-cell glucagon-like peptide producing tumor" EXACT [DOID:8151] +synonym: "malignant appendiceal L-cell glucagon-like peptide producing tumour" EXACT OMO:0003005 [] synonym: "vermiform appendix L-cell glucagon-like peptide-producing neuroendocrine tumor" EXACT [MONDO:design_pattern, MONDO:patterns/location] +synonym: "vermiform appendix L-cell glucagon-like peptide-producing neuroendocrine tumour" EXACT OMO:0003005 [] xref: DOID:8151 {source="MONDO:equivalentTo"} xref: NCIT:C27445 {source="MONDO:equivalentTo", source="DOID:8151"} xref: UMLS:C3274138 {source="MONDO:equivalentTo", source="NCIT:C27445", source="DOID:8151"} @@ -392227,12 +397090,16 @@ subset: ordo_disease synonym: "cystosarcoma phyllodes of prostate" EXACT [NCIT:C7574] synonym: "cystosarcoma phyllodes of the prostate" EXACT [NCIT:C7574, Orphanet:498228] synonym: "malignant phyllodes tumor of prostate (subtype)" RELATED [GARD:0009404] +synonym: "malignant phyllodes tumour of prostate (subtype)" RELATED OMO:0003005 [] synonym: "phyllodes neoplasm of prostate" EXACT [NCIT:C7574] synonym: "phyllodes neoplasm of the prostate" EXACT [NCIT:C7574] synonym: "phyllodes tumor of prostate" EXACT [NCIT:C7574] synonym: "phyllodes tumor of the prostate" EXACT [NCIT:C7574] +synonym: "phyllodes tumour of prostate" EXACT OMO:0003005 [] +synonym: "phyllodes tumour of the prostate" EXACT OMO:0003005 [] synonym: "prostate cystosarcoma phyllodes" EXACT [NCIT:C7574] synonym: "prostate gland phyllodes tumor" EXACT [MONDO:patterns/location] +synonym: "prostate gland phyllodes tumour" EXACT OMO:0003005 [] synonym: "prostate phyllodes neoplasm" EXACT [NCIT:C7574] synonym: "prostate phyllodes tumor" EXACT [NCIT:C7574] xref: NCIT:C7574 {source="MONDO:equivalentTo"} @@ -392391,11 +397258,15 @@ synonym: "neoplasms of the ureter" EXACT [NCIT:C3427] synonym: "neoplasms of ureter" EXACT [NCIT:C3427] synonym: "tumor of the ureter" EXACT [NCIT:C3427] synonym: "tumor of ureter" EXACT [MONDO:patterns/neoplasm, NCIT:C3427] +synonym: "tumour of the ureter" EXACT OMO:0003005 [] +synonym: "tumour of ureter" EXACT OMO:0003005 [] synonym: "ureter neoplasm" EXACT [NCIT:C3427] synonym: "ureter neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "ureter tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3427] +synonym: "ureter tumour" EXACT OMO:0003005 [] synonym: "ureteral neoplasm" EXACT [NCIT:C3427] synonym: "ureteral tumor" EXACT [NCIT:C3427] +synonym: "ureteral tumour" EXACT OMO:0003005 [] xref: EFO:0003844 {source="MONDO:equivalentTo"} xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C3427 {source="MONDO:equivalentTo"} @@ -392414,9 +397285,12 @@ synonym: "malignant neoplasm of scrotum" EXACT [MONDO:patterns/cancer, NCIT:C356 synonym: "malignant neoplasm of the scrotum" EXACT [NCIT:C3560] synonym: "malignant scrotal neoplasm" EXACT [NCIT:C3560] synonym: "malignant scrotal tumor" EXACT [NCIT:C3560] +synonym: "malignant scrotal tumour" EXACT OMO:0003005 [] synonym: "malignant scrotum neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of scrotum" EXACT [NCIT:C3560] synonym: "malignant tumor of the scrotum" EXACT [NCIT:C3560] +synonym: "malignant tumour of scrotum" EXACT OMO:0003005 [] +synonym: "malignant tumour of the scrotum" EXACT OMO:0003005 [] synonym: "scrotum cancer" EXACT [MONDO:patterns/location] xref: ICD9:187.7 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3560 {source="MONDO:equivalentTo"} @@ -392459,15 +397333,20 @@ def: "A benign or malignant neoplasm that affects the Bartholin gland. Represent synonym: "Bartholin gland neoplasm" EXACT [NCIT:C6434] synonym: "Bartholin's gland neoplasm" EXACT [NCIT:C6434] synonym: "Bartholin's gland tumor" EXACT [NCIT:C6434] +synonym: "Bartholin's gland tumour" EXACT OMO:0003005 [] synonym: "major vestibular gland neoplasm" EXACT [] synonym: "major vestibular gland neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "major vestibular gland tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "major vestibular gland tumour" EXACT OMO:0003005 [] synonym: "neoplasm of Bartholin's gland" EXACT [NCIT:C6434] synonym: "neoplasm of major vestibular gland" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the Bartholin's gland" EXACT [NCIT:C6434] synonym: "tumor of Bartholin's gland" EXACT [NCIT:C6434] synonym: "tumor of major vestibular gland" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of the Bartholin's gland" EXACT [NCIT:C6434] +synonym: "tumour of Bartholin's gland" EXACT OMO:0003005 [] +synonym: "tumour of major vestibular gland" EXACT OMO:0003005 [] +synonym: "tumour of the Bartholin's gland" EXACT OMO:0003005 [] xref: NCIT:C6434 {source="MONDO:equivalentTo"} xref: UMLS:C0220616 {source="NCIT:C6434", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0021049 {source="MONDO:Redundant", source="NCIT:C6434"} ! vulvar neoplasm @@ -392482,6 +397361,7 @@ synonym: "Luminal B" EXACT [NCIT:C53555] synonym: "Luminal B breast cancer" EXACT [NCIT:C53555] synonym: "Luminal B breast carcinoma" EXACT [NCIT:C53555] synonym: "Luminal B estrogen receptor positive subtype of breast carcinoma" EXACT [NCIT:C53555] +synonym: "Luminal B oestrogen receptor positive subtype of breast carcinoma" EXACT OMO:0003005 [] synonym: "Luminal B subtype of breast carcinoma" EXACT [NCIT:C53555] xref: DOID:0080674 {source="MONDO:equivalentTo"} xref: NCIT:C53555 {source="MONDO:equivalentTo"} @@ -392497,6 +397377,7 @@ synonym: "Luminal A" EXACT [NCIT:C53554] synonym: "Luminal A breast cancer" EXACT [NCIT:C53554] synonym: "Luminal A breast carcinoma" EXACT [NCIT:C53554] synonym: "Luminal A estrogen receptor positive subtype of breast carcinoma" EXACT [NCIT:C53554] +synonym: "Luminal A oestrogen receptor positive subtype of breast carcinoma" EXACT OMO:0003005 [] synonym: "Luminal A subtype of breast carcinoma" EXACT [NCIT:C53554] xref: NCIT:C53554 {source="MONDO:equivalentTo"} xref: UMLS:C3642345 {source="MONDO:equivalentTo", source="NCIT:C53554"} @@ -392512,6 +397393,7 @@ synonym: "lung neoplasm" EXACT [NCIT:C3200] synonym: "lung neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "lung neoplasms" EXACT [NCIT:C3200] synonym: "lung tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3200] +synonym: "lung tumour" EXACT OMO:0003005 [] synonym: "neoplasm of lung" EXACT [MONDO:patterns/neoplasm, NCIT:C3200] synonym: "neoplasm of the lung" EXACT [NCIT:C3200] synonym: "neoplasm, lung" RELATED [MESH:D008175] @@ -392520,6 +397402,8 @@ synonym: "neoplasms, lung" RELATED [MESH:D008175] synonym: "neoplasms, pulmonary" RELATED [MESH:D008175] synonym: "tumor of lung" EXACT [MONDO:patterns/neoplasm, NCIT:C3200] synonym: "tumor of the lung" EXACT [NCIT:C3200] +synonym: "tumour of lung" EXACT OMO:0003005 [] +synonym: "tumour of the lung" EXACT OMO:0003005 [] xref: MESH:D008175 {source="MONDO:equivalentTo"} xref: NCIT:C12468 {source="ONCOTREE:LUNG"} xref: NCIT:C3200 {source="MONDO:equivalentTo"} @@ -392542,10 +397426,13 @@ synonym: "intestinal neoplasm" EXACT [NCIT:C3141] synonym: "intestinal neoplasms" EXACT [NCIT:C3141] synonym: "intestinal tumor" EXACT [NCIT:C3141] synonym: "intestinal tumors" EXACT [DOID:4610, NCIT:C3141] +synonym: "intestinal tumour" EXACT OMO:0003005 [] +synonym: "intestinal tumours" EXACT OMO:0003005 [] synonym: "intestine growth" EXACT [DOID:4610] synonym: "intestine neoplasm" EXACT [] synonym: "intestine neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "intestine tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "intestine tumour" EXACT OMO:0003005 [] synonym: "neoplasm of intestinal tract" EXACT [DOID:4610] synonym: "neoplasm of intestine" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of intestines" EXACT [NCIT:C3141] @@ -392553,6 +397440,9 @@ synonym: "neoplasm of the intestines" EXACT [NCIT:C3141] synonym: "tumor of intestine" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of intestines" EXACT [NCIT:C3141] synonym: "tumor of the intestines" EXACT [NCIT:C3141] +synonym: "tumour of intestine" EXACT OMO:0003005 [] +synonym: "tumour of intestines" EXACT OMO:0003005 [] +synonym: "tumour of the intestines" EXACT OMO:0003005 [] xref: DOID:4610 {source="MONDO:equivalentTo"} xref: MESH:D007414 {source="DOID:4610"} xref: NCIT:C12736 {source="ONCOTREE:BOWEL"} @@ -392572,9 +397462,11 @@ id: MONDO:0021119 name: non-functioning endocrine neoplasm def: "A hormone producing or non-producing endocrine neoplasm, not associated with a hormonal syndrome." [NCIT:C94760] synonym: "endocrine-inactive tumor" EXACT [NCIT:C94760] +synonym: "endocrine-inactive tumour" EXACT OMO:0003005 [] synonym: "non-functioning endocrine neoplasm" EXACT [NCIT:C94760] synonym: "nonfunctional Endocrine neoplasm" EXACT [NCIT:C94760] synonym: "nonfunctioning tumor" EXACT [NCIT:C94760] +synonym: "nonfunctioning tumour" EXACT OMO:0003005 [] xref: NCIT:C94760 {source="MONDO:equivalentTo"} xref: UMLS:C2986656 {source="MONDO:equivalentTo", source="NCIT:C94760"} is_a: MONDO:0002082 {source="MONDO:Redundant", source="NCIT:C94760"} ! endocrine gland neoplasm @@ -392588,6 +397480,7 @@ name: functioning endocrine neoplasm def: "A hormone producing endocrine neoplasm, associated with a hormonal syndrome." [NCIT:C94759] synonym: "functioning endocrine neoplasm" EXACT [NCIT:C94759] synonym: "functioning tumor" EXACT [NCIT:C94759] +synonym: "functioning tumour" EXACT OMO:0003005 [] xref: ICDO:8158/1 {source="NCIT:C94759"} xref: NCIT:C94759 {source="MONDO:equivalentTo"} xref: UMLS:C2986655 {source="MONDO:equivalentTo", source="NCIT:C94759"} @@ -392622,8 +397515,10 @@ id: MONDO:0021123 name: Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone def: "A spectrum of malignant tumors arising from the bone and characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms." [NCIT:C35871] synonym: "bone tissue Ewing sarcoma/peripheral primitive neuroectodermal tumor" EXACT [MONDO:patterns/location] +synonym: "bone tissue Ewing sarcoma/peripheral primitive neuroectodermal tumour" EXACT OMO:0003005 [] synonym: "Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone" EXACT [NCIT:C35871] synonym: "Ewing's sarcoma/peripheral primitive neuroectodermal tumor of bone" EXACT [NCIT:C35871] +synonym: "Ewing's sarcoma/peripheral primitive neuroectodermal tumour of bone" EXACT OMO:0003005 [] xref: NCIT:C35871 {source="MONDO:equivalentTo"} xref: UMLS:C1333481 {source="MONDO:equivalentTo", source="NCIT:C35871"} is_a: MONDO:0021038 {source="MONDO:Redundant", source="NCIT:C35871"} ! Ewing sarcoma/peripheral primitive neuroectodermal tumor @@ -392734,6 +397629,7 @@ id: MONDO:0021131 name: frontal lobe ependymal tumor def: "An ependymal tumor affecting the frontal lobe of the brain." [NCIT:C131573] synonym: "ependymal tumor of frontal lobe" EXACT [MONDO:design_pattern] +synonym: "ependymal tumour of frontal lobe" EXACT OMO:0003005 [] synonym: "frontal lobe ependymal tumor" EXACT [MONDO:patterns/location, NCIT:C131573] xref: NCIT:C131573 {source="MONDO:equivalentTo"} xref: UMLS:C4330009 {source="MONDO:equivalentTo"} @@ -392813,6 +397709,7 @@ synonym: "bone marrow cancer" EXACT [MONDO:patterns/location, NCIT:C35501] synonym: "cancer of bone marrow" EXACT [MONDO:patterns/cancer] synonym: "malignant bone marrow neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C35501] synonym: "malignant bone marrow tumor" EXACT [NCIT:C35501] +synonym: "malignant bone marrow tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of bone marrow" EXACT [MONDO:patterns/cancer] xref: NCIT:C35501 {source="MONDO:equivalentTo"} xref: UMLS:C2703042 {source="MONDO:equivalentTo", source="NCIT:C35501"} @@ -392949,16 +397846,21 @@ name: female reproductive system neoplasm def: "A benign, precancerous, or malignant neoplasm that affects the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, ovarian carcinoma, cervical carcinoma, and endometrial carcinoma." [NCIT:C3053] synonym: "female reproductive organ neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "female reproductive organ tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "female reproductive organ tumour" EXACT OMO:0003005 [] synonym: "female reproductive system neoplasm" EXACT [NCIT:C3053] synonym: "female reproductive system neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "female reproductive system tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3053] +synonym: "female reproductive system tumour" EXACT OMO:0003005 [] synonym: "gynecologic neoplasm" EXACT [NCIT:C3053] synonym: "gynecologic tumor" EXACT [NCIT:C3053] +synonym: "gynecologic tumour" EXACT OMO:0003005 [] synonym: "neoplasm of female reproductive organ" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of female reproductive system" EXACT [MONDO:patterns/neoplasm, NCIT:C3053] synonym: "neoplasm of the female reproductive system" EXACT [NCIT:C3053] synonym: "tumor of female reproductive system" EXACT [MONDO:patterns/neoplasm, NCIT:C3053] synonym: "tumor of the female reproductive system" EXACT [NCIT:C3053] +synonym: "tumour of female reproductive system" EXACT OMO:0003005 [] +synonym: "tumour of the female reproductive system" EXACT OMO:0003005 [] xref: EFO:1001331 {source="MONDO:equivalentTo"} xref: ICD10CM:C51-C58 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: MESH:D005833 {source="MONDO:equivalentTo"} @@ -393059,6 +397961,8 @@ id: MONDO:0021157 name: gonococcal cervicitis synonym: "gonorrhea of cervix" EXACT [MONDO:cjm] synonym: "gonorrhea of uterine cervix" EXACT [MONDO:cjm] +synonym: "gonorrhoea of cervix" EXACT OMO:0003005 [] +synonym: "gonorrhoea of uterine cervix" EXACT OMO:0003005 [] xref: SCTID:237083000 {source="MONDO:equivalentTo"} xref: UMLS:C0812378 {source="MONDO:equivalentTo"} is_a: MONDO:0002345 ! cervicitis @@ -393145,13 +398049,18 @@ def: "A benign or malignant neoplasm affecting the kidney. Representative exampl synonym: "kidney neoplasm" EXACT [NCIT:C3150] synonym: "kidney neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "kidney tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3150] +synonym: "kidney tumour" EXACT OMO:0003005 [] synonym: "neoplasm of kidney" EXACT [MONDO:patterns/neoplasm, NCIT:C3150] synonym: "neoplasm of the kidney" EXACT [NCIT:C3150] synonym: "renal neoplasm" EXACT [NCIT:C3150] synonym: "renal tumor" EXACT [NCIT:C3150] synonym: "renal tumors" EXACT [NCIT:C3150] +synonym: "renal tumour" EXACT OMO:0003005 [] +synonym: "renal tumours" EXACT OMO:0003005 [] synonym: "tumor of kidney" EXACT [MONDO:patterns/neoplasm, NCIT:C3150] synonym: "tumor of the kidney" EXACT [NCIT:C3150] +synonym: "tumour of kidney" EXACT OMO:0003005 [] +synonym: "tumour of the kidney" EXACT OMO:0003005 [] xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C12415 {source="ONCOTREE:KIDNEY"} xref: NCIT:C3150 {source="MONDO:equivalentTo"} @@ -393241,7 +398150,9 @@ name: hibernoma def: "A rare benign slow growing adipose tissue tumor, characterized by the presence of polygonal brown fat cells with multivacuolated and/or granular cytoplasm. The tumor is usually painless and is most often seen in young adults." [NCIT:C3702] synonym: "Brown fat neoplasm" EXACT [NCIT:C3702] synonym: "Brown fat tumor" EXACT [NCIT:C3702] +synonym: "Brown fat tumour" EXACT OMO:0003005 [] synonym: "fetal fat cell lipoma" EXACT [NCIT:C3702] +synonym: "foetal fat cell lipoma" EXACT OMO:0003005 [] synonym: "hibernoma" EXACT [NCIT:C3702] synonym: "hibernoma, benign" EXACT [NCIT:C3702] xref: ICDO:8880/0 {source="NCIT:C3702"} @@ -393591,10 +398502,13 @@ def: "A benign or malignant neoplasm arising from tooth-forming tissues. It occu synonym: "calcareous tooth neoplasm" EXACT [] synonym: "calcareous tooth neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "calcareous tooth tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "calcareous tooth tumour" EXACT OMO:0003005 [] synonym: "neoplasm of calcareous tooth" EXACT [MONDO:patterns/neoplasm] synonym: "odontogenic neoplasm" EXACT [NCIT:C3286] synonym: "odontogenic tumor" EXACT [NCIT:C3286] +synonym: "odontogenic tumour" EXACT OMO:0003005 [] synonym: "tumor of calcareous tooth" EXACT [MONDO:patterns/neoplasm] +synonym: "tumour of calcareous tooth" EXACT OMO:0003005 [] xref: ICDO:9270/1 {source="NCIT:C3286"} xref: MESH:D009808 {source="MONDO:equivalentTo"} xref: NCIT:C3286 {source="MONDO:equivalentTo"} @@ -393616,12 +398530,19 @@ synonym: "neuroepithelial neoplasm" EXACT [NCIT:C3787] synonym: "neuroepithelial neoplasms" EXACT [NCIT:C3787] synonym: "neuroepithelial tissue neoplasm" EXACT [NCIT:C3787] synonym: "neuroepithelial tissue tumor" EXACT [NCIT:C3787] +synonym: "neuroepithelial tissue tumour" EXACT OMO:0003005 [] synonym: "neuroepithelial tumor" EXACT [NCIT:C3787] synonym: "neuroepithelial tumors" EXACT [NCIT:C3787] +synonym: "neuroepithelial tumour" EXACT OMO:0003005 [] +synonym: "neuroepithelial tumours" EXACT OMO:0003005 [] synonym: "primary neuroepithelial tumor" RELATED [ONCOTREE:PRNET] +synonym: "primary neuroepithelial tumour" RELATED OMO:0003005 [] synonym: "tumor of neuroepithelial tissue" EXACT [NCIT:C3787] synonym: "tumor of neuroepithelium" EXACT [NCIT:C3787] synonym: "tumor of the neuroepithelium" EXACT [NCIT:C3787] +synonym: "tumour of neuroepithelial tissue" EXACT OMO:0003005 [] +synonym: "tumour of neuroepithelium" EXACT OMO:0003005 [] +synonym: "tumour of the neuroepithelium" EXACT OMO:0003005 [] xref: MESH:D018302 {source="MONDO:equivalentTo"} xref: NCIT:C3787 {source="MONDO:equivalentTo"} xref: ONCOTREE:PRNET {source="MONDO:equivalentTo"} @@ -393818,15 +398739,21 @@ subset: gard_rare synonym: "Cardiac neoplasm" EXACT [NCIT:C3081] synonym: "Cardiac neoplasms" EXACT [NCIT:C3081] synonym: "Cardiac tumor" EXACT [NCIT:C3081] +synonym: "Cardiac tumour" EXACT OMO:0003005 [] synonym: "heart neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "heart tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3081] +synonym: "heart tumour" EXACT OMO:0003005 [] synonym: "Intracavitary tumors" RELATED [GARD:0002619] +synonym: "Intracavitary tumours" RELATED OMO:0003005 [] synonym: "myocardial tumors (rhabdomyomas and fibromas)" RELATED [GARD:0002619] +synonym: "myocardial tumours (rhabdomyomas and fibromas)" RELATED OMO:0003005 [] synonym: "neoplasm of heart" EXACT [MONDO:patterns/neoplasm, NCIT:C3081] synonym: "neoplasm of the heart" EXACT [NCIT:C3081] synonym: "primary cardiac tumors, childhood" RELATED [GARD:0002619] synonym: "tumor of heart" EXACT [MONDO:patterns/neoplasm, NCIT:C3081] synonym: "tumor of the heart" EXACT [NCIT:C3081] +synonym: "tumour of heart" EXACT OMO:0003005 [] +synonym: "tumour of the heart" EXACT OMO:0003005 [] xref: EFO:1001339 {source="MONDO:equivalentTo"} xref: NCIT:C3081 {source="MONDO:equivalentTo"} xref: UMLS:C0018809 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C3081"} @@ -393843,10 +398770,14 @@ synonym: "neoplasm of the trachea" EXACT [NCIT:C3419] synonym: "neoplasm of trachea" EXACT [MONDO:patterns/neoplasm, NCIT:C3419] synonym: "trachea neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "trachea tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3419] +synonym: "trachea tumour" EXACT OMO:0003005 [] synonym: "tracheal neoplasm" EXACT [NCIT:C3419] synonym: "tracheal tumor" EXACT [NCIT:C3419] +synonym: "tracheal tumour" EXACT OMO:0003005 [] synonym: "tumor of the trachea" EXACT [NCIT:C3419] synonym: "tumor of trachea" EXACT [MONDO:patterns/neoplasm, NCIT:C3419] +synonym: "tumour of the trachea" EXACT OMO:0003005 [] +synonym: "tumour of trachea" EXACT OMO:0003005 [] xref: EFO:1001437 {source="MONDO:equivalentTo"} xref: GTR:AN0481062 {source="UMLS:C0040582"} xref: GTR:AN0505660 {source="UMLS:C0040582"} @@ -393867,10 +398798,13 @@ def: "A neoplasm (disease) that involves the brain." [MONDO:patterns/location] synonym: "brain neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "brain neoplasms" EXACT [NCIT:C2907] synonym: "brain tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C2907] +synonym: "brain tumour" EXACT OMO:0003005 [] synonym: "neoplasm of brain" EXACT [MONDO:patterns/neoplasm, NCIT:C2907] synonym: "neoplasm of the brain" EXACT [NCIT:C2907] synonym: "tumor of brain" EXACT [MONDO:patterns/neoplasm, NCIT:C2907] synonym: "tumor of the Brain" EXACT [NCIT:C2907] +synonym: "tumour of brain" EXACT OMO:0003005 [] +synonym: "tumour of the Brain" EXACT OMO:0003005 [] xref: NCIT:C2907 {source="MONDO:equivalentTo"} xref: UMLS:C0006118 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C2907"} is_a: MONDO:0006130 {source="MONDO:Redundant", source="NCIT:C2907/inferred"} ! central nervous system neoplasm @@ -393887,12 +398821,19 @@ synonym: "placenta neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "placenta neoplasms" EXACT [NCIT:C4858] synonym: "placenta tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4858] synonym: "placenta tumors" EXACT [NCIT:C4858] +synonym: "placenta tumour" EXACT OMO:0003005 [] +synonym: "placenta tumours" EXACT OMO:0003005 [] synonym: "placental neoplasm" EXACT [NCIT:C4858] synonym: "placental tumor" EXACT [NCIT:C4858] synonym: "placental tumors" EXACT [NCIT:C4858] +synonym: "placental tumour" EXACT OMO:0003005 [] +synonym: "placental tumours" EXACT OMO:0003005 [] synonym: "trophoblastic tumor placental site" RELATED [GARD:0007403] +synonym: "trophoblastic tumour placental site" RELATED OMO:0003005 [] synonym: "tumor of placenta" EXACT [MONDO:patterns/neoplasm, NCIT:C4858] synonym: "tumor of the placenta" EXACT [NCIT:C4858] +synonym: "tumour of placenta" EXACT OMO:0003005 [] +synonym: "tumour of the placenta" EXACT OMO:0003005 [] xref: NCIT:C4858 {source="MONDO:equivalentTo"} xref: UMLS:C0524541 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C4858"} is_a: MONDO:0005917 {source="MONDO:Redundant", source="NCIT:C4858"} ! placenta disorder @@ -393905,16 +398846,22 @@ name: eye neoplasm def: "A neoplasm (disease) that involves the eye." [MONDO:patterns/location] synonym: "eye neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "eye tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3030] +synonym: "eye tumour" EXACT OMO:0003005 [] synonym: "eyeball of camera-type eye neoplasm" EXACT [] synonym: "eyeball of camera-type eye tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "eyeball of camera-type eye tumour" EXACT OMO:0003005 [] synonym: "neoplasm of eye" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of eyeball of camera-type eye" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the eye" EXACT [NCIT:C3030] synonym: "ocular neoplasm" EXACT [NCIT:C3030] synonym: "ocular tumor" EXACT [NCIT:C3030] +synonym: "ocular tumour" EXACT OMO:0003005 [] synonym: "tumor of eye" EXACT [MONDO:patterns/neoplasm, NCIT:C3030] synonym: "tumor of eyeball of camera-type eye" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of the eye" EXACT [NCIT:C3030] +synonym: "tumour of eye" EXACT OMO:0003005 [] +synonym: "tumour of eyeball of camera-type eye" EXACT OMO:0003005 [] +synonym: "tumour of the eye" EXACT OMO:0003005 [] xref: ICD10CM:C69-C72 {source="MONDO:relatedTo", source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: NCIT:C12401 {source="ONCOTREE:EYE"} xref: NCIT:C3030 {source="MONDO:equivalentTo"} @@ -393931,10 +398878,12 @@ name: vestibulocochlear nerve neoplasm def: "A neoplasm (disease) that involves the vestibulocochlear nerve." [MONDO:patterns/location] synonym: "acoustic nerve neoplasm" EXACT [NCIT:C5120] synonym: "acoustic nerve tumor" EXACT [NCIT:C5120] +synonym: "acoustic nerve tumour" EXACT OMO:0003005 [] synonym: "cranial nerve eight neoplasms" EXACT [NCIT:C5120] synonym: "eighth cranial nerve neoplasm" EXACT [NCIT:C5120] synonym: "eighth cranial nerve neoplasms" EXACT [NCIT:C5120] synonym: "eighth cranial nerve tumor" EXACT [NCIT:C5120] +synonym: "eighth cranial nerve tumour" EXACT OMO:0003005 [] synonym: "neoplasm of acoustic nerve" EXACT [NCIT:C5120] synonym: "neoplasm of eighth cranial nerve" EXACT [NCIT:C5120] synonym: "neoplasm of the acoustic nerve" EXACT [NCIT:C5120] @@ -393947,10 +398896,17 @@ synonym: "tumor of the acoustic nerve" EXACT [NCIT:C5120] synonym: "tumor of the eighth cranial nerve" EXACT [NCIT:C5120] synonym: "tumor of the vestibulocochlear nerve" EXACT [NCIT:C5120] synonym: "tumor of vestibulocochlear nerve" EXACT [MONDO:patterns/neoplasm, NCIT:C5120] +synonym: "tumour of acoustic nerve" EXACT OMO:0003005 [] +synonym: "tumour of eighth cranial nerve" EXACT OMO:0003005 [] +synonym: "tumour of the acoustic nerve" EXACT OMO:0003005 [] +synonym: "tumour of the eighth cranial nerve" EXACT OMO:0003005 [] +synonym: "tumour of the vestibulocochlear nerve" EXACT OMO:0003005 [] +synonym: "tumour of vestibulocochlear nerve" EXACT OMO:0003005 [] synonym: "Vestibuloacoustic nerve neoplasms" EXACT [NCIT:C5120] synonym: "vestibulocochlear nerve neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "vestibulocochlear nerve neoplasms" EXACT [NCIT:C5120] synonym: "vestibulocochlear nerve tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5120] +synonym: "vestibulocochlear nerve tumour" EXACT OMO:0003005 [] xref: NCIT:C5120 {source="MONDO:equivalentTo"} xref: SCTID:387891008 {source="MONDO:equivalentTo"} xref: UMLS:C0346330 {source="NCIT:C5120", source="MONDO:equivalentTo"} @@ -393964,10 +398920,13 @@ name: lacrimal gland neoplasm def: "A neoplasm (disease) that involves the lacrimal gland." [MONDO:patterns/location] synonym: "lacrimal gland neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "lacrimal gland tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4360] +synonym: "lacrimal gland tumour" EXACT OMO:0003005 [] synonym: "neoplasm of lacrimal gland" EXACT [MONDO:patterns/neoplasm, NCIT:C4360] synonym: "neoplasm of the lacrimal gland" EXACT [NCIT:C4360] synonym: "tumor of lacrimal gland" EXACT [MONDO:patterns/neoplasm, NCIT:C4360] synonym: "tumor of the lacrimal gland" EXACT [NCIT:C4360] +synonym: "tumour of lacrimal gland" EXACT OMO:0003005 [] +synonym: "tumour of the lacrimal gland" EXACT OMO:0003005 [] xref: NCIT:C4360 {source="MONDO:equivalentTo"} xref: UMLS:C0339124 {source="NCIT:C4360", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0021220 {source="MONDO:Redundant", source="NCIT:C4360/inferred"} ! eye neoplasm @@ -393981,15 +398940,21 @@ def: "A neoplasm (disease) that involves the digestive system." [MONDO:patterns/ synonym: "digestive neoplasm" EXACT [NCIT:C3052] synonym: "digestive system neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "digestive system tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3052] +synonym: "digestive system tumour" EXACT OMO:0003005 [] synonym: "digestive tumor" EXACT [NCIT:C3052] +synonym: "digestive tumour" EXACT OMO:0003005 [] synonym: "gastrointestinal neoplasm" EXACT [NCIT:C3052] synonym: "gastrointestinal system neoplasm" EXACT [NCIT:C3052] synonym: "gastrointestinal system tumor" EXACT [NCIT:C3052] +synonym: "gastrointestinal system tumour" EXACT OMO:0003005 [] synonym: "gastrointestinal tumor" EXACT [NCIT:C3052] +synonym: "gastrointestinal tumour" EXACT OMO:0003005 [] synonym: "GI neoplasm" EXACT [NCIT:C3052] synonym: "GI system neoplasm" EXACT [NCIT:C3052] synonym: "GI system tumor" EXACT [NCIT:C3052] +synonym: "GI system tumour" EXACT OMO:0003005 [] synonym: "GI tumor" EXACT [NCIT:C3052] +synonym: "GI tumour" EXACT OMO:0003005 [] synonym: "neoplasm of digestive system" EXACT [MONDO:patterns/neoplasm, NCIT:C3052] synonym: "neoplasm of gastrointestinal system" EXACT [NCIT:C3052] synonym: "neoplasm of GI system" EXACT [NCIT:C3052] @@ -394002,6 +398967,12 @@ synonym: "tumor of GI system" EXACT [NCIT:C3052] synonym: "tumor of the digestive system" EXACT [NCIT:C3052] synonym: "tumor of the gastrointestinal system" EXACT [NCIT:C3052] synonym: "tumor of the GI system" EXACT [NCIT:C3052] +synonym: "tumour of digestive system" EXACT OMO:0003005 [] +synonym: "tumour of gastrointestinal system" EXACT OMO:0003005 [] +synonym: "tumour of GI system" EXACT OMO:0003005 [] +synonym: "tumour of the digestive system" EXACT OMO:0003005 [] +synonym: "tumour of the gastrointestinal system" EXACT OMO:0003005 [] +synonym: "tumour of the GI system" EXACT OMO:0003005 [] xref: EFO:0008549 {source="MONDO:equivalentTo"} xref: ICD10CM:C15-C26 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: MESH:D005770 {source="MONDO:equivalentTo"} @@ -394017,10 +398988,13 @@ name: iris neoplasm def: "A neoplasm (disease) that involves the iris." [MONDO:patterns/location] synonym: "iris neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "iris tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3142] +synonym: "iris tumour" EXACT OMO:0003005 [] synonym: "neoplasm of iris" EXACT [MONDO:patterns/neoplasm, NCIT:C3142] synonym: "neoplasm of the iris" EXACT [NCIT:C3142] synonym: "tumor of iris" EXACT [MONDO:patterns/neoplasm, NCIT:C3142] synonym: "tumor of the iris" EXACT [NCIT:C3142] +synonym: "tumour of iris" EXACT OMO:0003005 [] +synonym: "tumour of the iris" EXACT OMO:0003005 [] xref: MESH:D015811 {source="MONDO:equivalentTo"} xref: NCIT:C3142 {source="MONDO:equivalentTo"} xref: UMLS:C0022079 {source="NCIT:C3142", source="MONDO:equivalentTo"} @@ -394036,10 +399010,14 @@ synonym: "neoplasm of the uvea" EXACT [NCIT:C3436] synonym: "neoplasm of uvea" EXACT [MONDO:patterns/neoplasm, NCIT:C3436] synonym: "tumor of the uvea" EXACT [NCIT:C3436] synonym: "tumor of uvea" EXACT [MONDO:patterns/neoplasm, NCIT:C3436] +synonym: "tumour of the uvea" EXACT OMO:0003005 [] +synonym: "tumour of uvea" EXACT OMO:0003005 [] synonym: "uvea neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "uvea tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3436] +synonym: "uvea tumour" EXACT OMO:0003005 [] synonym: "uveal neoplasm" EXACT [NCIT:C3436] synonym: "uveal tumor" EXACT [NCIT:C3436] +synonym: "uveal tumour" EXACT OMO:0003005 [] xref: NCIT:C3436 {source="MONDO:equivalentTo"} xref: UMLS:C0042162 {source="MONDO:equivalentTo", source="NCIT:C3436"} is_a: MONDO:0002661 {source="MONDO:Redundant", source="NCIT:C3436"} ! uveal disorder @@ -394055,15 +399033,20 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:100091"} synonym: "adrenal gland neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "adrenal gland tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C2859] +synonym: "adrenal gland tumour" EXACT OMO:0003005 [] synonym: "adrenal neoplasm" EXACT [NCIT:C2859] synonym: "adrenal neoplasms" EXACT [NCIT:C2859] synonym: "adrenal tumor" EXACT [NCIT:C2859] +synonym: "adrenal tumour" EXACT OMO:0003005 [] synonym: "adrenal/paraganglial tumor" RELATED [] +synonym: "adrenal/paraganglial tumour" RELATED OMO:0003005 [] synonym: "ADRENALGLAND" RELATED ABBREVIATION [ONCOTREE:ADRENALGLAND] synonym: "neoplasm of adrenal gland" EXACT [MONDO:patterns/neoplasm, NCIT:C2859] synonym: "neoplasm of the adrenal gland" EXACT [NCIT:C2859] synonym: "tumor of adrenal gland" EXACT [MONDO:patterns/neoplasm, NCIT:C2859] synonym: "tumor of the adrenal gland" EXACT [NCIT:C2859] +synonym: "tumour of adrenal gland" EXACT OMO:0003005 [] +synonym: "tumour of the adrenal gland" EXACT OMO:0003005 [] xref: EFO:0003850 {source="MONDO:equivalentTo"} xref: NCIT:C12666 {source="ONCOTREE:ADRENALGLAND"} xref: NCIT:C2859 {source="MONDO:equivalentTo"} @@ -394084,8 +399067,10 @@ name: brainstem neoplasm def: "A neoplasm (disease) that involves the brainstem." [MONDO:patterns/location] synonym: "Brain stem neoplasm" EXACT [NCIT:C4869] synonym: "brain stem tumor" EXACT [NCIT:C4869] +synonym: "brain stem tumour" EXACT OMO:0003005 [] synonym: "brainstem neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "brainstem tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4869] +synonym: "brainstem tumour" EXACT OMO:0003005 [] synonym: "neoplasm of brain stem" EXACT [NCIT:C4869] synonym: "neoplasm of brainstem" EXACT [MONDO:patterns/neoplasm, NCIT:C4869] synonym: "neoplasm of the brain stem" EXACT [NCIT:C4869] @@ -394094,6 +399079,10 @@ synonym: "tumor of brain stem" EXACT [NCIT:C4869] synonym: "tumor of brainstem" EXACT [MONDO:patterns/neoplasm, NCIT:C4869] synonym: "tumor of the brain stem" EXACT [NCIT:C4869] synonym: "tumor of the brainstem" EXACT [NCIT:C4869] +synonym: "tumour of brain stem" EXACT OMO:0003005 [] +synonym: "tumour of brainstem" EXACT OMO:0003005 [] +synonym: "tumour of the brain stem" EXACT OMO:0003005 [] +synonym: "tumour of the brainstem" EXACT OMO:0003005 [] xref: NCIT:C4869 {source="MONDO:equivalentTo"} xref: Orphanet:36414 {source="MONDO:equivalentObsolete"} xref: UMLS:C0677866 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C4869"} @@ -394107,10 +399096,13 @@ name: ciliary body neoplasm def: "A neoplasm (disease) that involves the ciliary body." [MONDO:patterns/location] synonym: "ciliary body neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "ciliary body tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4364] +synonym: "ciliary body tumour" EXACT OMO:0003005 [] synonym: "neoplasm of ciliary body" EXACT [MONDO:patterns/neoplasm, NCIT:C4364] synonym: "neoplasm of the ciliary body" EXACT [NCIT:C4364] synonym: "tumor of ciliary body" EXACT [MONDO:patterns/neoplasm, NCIT:C4364] synonym: "tumor of the ciliary body" EXACT [NCIT:C4364] +synonym: "tumour of ciliary body" EXACT OMO:0003005 [] +synonym: "tumour of the ciliary body" EXACT OMO:0003005 [] xref: NCIT:C4364 {source="MONDO:equivalentTo"} xref: UMLS:C0339349 {source="NCIT:C4364", source="MONDO:equivalentTo"} is_a: MONDO:0002970 {source="MONDO:Redundant", source="NCIT:C4364"} ! ciliary body disorder @@ -394123,11 +399115,14 @@ name: uterine cervix neoplasm def: "A neoplasm (disease) that involves the uterine cervix." [MONDO:patterns/location] synonym: "Cervical neoplasm" EXACT [NCIT:C2940] synonym: "cervical tumor" EXACT [NCIT:C2940] +synonym: "cervical tumour" EXACT OMO:0003005 [] synonym: "cervix" RELATED [ONCOTREE:CERVIX] synonym: "cervix neoplasm" EXACT [NCIT:C2940] synonym: "cervix tumor" EXACT [NCIT:C2940] +synonym: "cervix tumour" EXACT OMO:0003005 [] synonym: "cervix uteri neoplasm" EXACT [NCIT:C2940] synonym: "cervix uteri tumor" EXACT [NCIT:C2940] +synonym: "cervix uteri tumour" EXACT OMO:0003005 [] synonym: "neoplasm of cervix" EXACT [NCIT:C2940] synonym: "neoplasm of cervix uteri" EXACT [NCIT:C2940] synonym: "neoplasm of the cervix" EXACT [NCIT:C2940] @@ -394140,8 +399135,15 @@ synonym: "tumor of the cervix" EXACT [NCIT:C2940] synonym: "tumor of the cervix uteri" EXACT [NCIT:C2940] synonym: "tumor of the uterine cervix" EXACT [NCIT:C2940] synonym: "tumor of uterine cervix" EXACT [MONDO:patterns/neoplasm, NCIT:C2940] +synonym: "tumour of cervix" EXACT OMO:0003005 [] +synonym: "tumour of cervix uteri" EXACT OMO:0003005 [] +synonym: "tumour of the cervix" EXACT OMO:0003005 [] +synonym: "tumour of the cervix uteri" EXACT OMO:0003005 [] +synonym: "tumour of the uterine cervix" EXACT OMO:0003005 [] +synonym: "tumour of uterine cervix" EXACT OMO:0003005 [] synonym: "uterine cervix neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "uterine cervix tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C2940] +synonym: "uterine cervix tumour" EXACT OMO:0003005 [] xref: NCIT:C12311 {source="ONCOTREE:CERVIX"} xref: NCIT:C2940 {source="MONDO:equivalentTo"} xref: ONCOTREE:CERVIX {source="MONDO:equivalentTo"} @@ -394159,10 +399161,14 @@ synonym: "neoplasm of retina" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the retina" EXACT [NCIT:C4800] synonym: "retina neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "retina tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4800] +synonym: "retina tumour" EXACT OMO:0003005 [] synonym: "retinal neoplasm" EXACT [NCIT:C4800] synonym: "retinal tumor" EXACT [NCIT:C4800] +synonym: "retinal tumour" EXACT OMO:0003005 [] synonym: "tumor of retina" EXACT [MONDO:patterns/neoplasm, NCIT:C4800] synonym: "tumor of the retina" EXACT [NCIT:C4800] +synonym: "tumour of retina" EXACT OMO:0003005 [] +synonym: "tumour of the retina" EXACT OMO:0003005 [] xref: EFO:1000509 {source="MONDO:equivalentTo"} xref: NCIT:C4800 {source="MONDO:equivalentTo"} xref: UMLS:C0524801 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C4800"} @@ -394181,18 +399187,27 @@ synonym: "neoplasm of the pineal area" EXACT [NCIT:C3328] synonym: "neoplasm of the pineal region" EXACT [NCIT:C3328] synonym: "pineal area neoplasm" EXACT [NCIT:C3328] synonym: "pineal area tumor" EXACT [NCIT:C3328] +synonym: "pineal area tumour" EXACT OMO:0003005 [] synonym: "pineal body neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "pineal body tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3328] +synonym: "pineal body tumour" EXACT OMO:0003005 [] synonym: "pineal neoplasm" EXACT [NCIT:C3328] synonym: "pineal region neoplasm" EXACT [NCIT:C3328] synonym: "pineal region tumor" EXACT [NCIT:C3328] +synonym: "pineal region tumour" EXACT OMO:0003005 [] synonym: "pineal tumor" EXACT [NCIT:C3328] +synonym: "pineal tumour" EXACT OMO:0003005 [] synonym: "pinealoma" EXACT [NCIT:C3328] synonym: "tumor of pineal area" EXACT [NCIT:C3328] synonym: "tumor of pineal body" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of pineal region" EXACT [NCIT:C3328] synonym: "tumor of the pineal area" EXACT [NCIT:C3328] synonym: "tumor of the pineal region" EXACT [NCIT:C3328] +synonym: "tumour of pineal area" EXACT OMO:0003005 [] +synonym: "tumour of pineal body" EXACT OMO:0003005 [] +synonym: "tumour of pineal region" EXACT OMO:0003005 [] +synonym: "tumour of the pineal area" EXACT OMO:0003005 [] +synonym: "tumour of the pineal region" EXACT OMO:0003005 [] xref: NCIT:C3328 {source="MONDO:equivalentTo"} xref: ONCOTREE:PINT {source="MONDO:equivalentTo"} xref: UMLS:C1412004 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C3328"} @@ -394208,12 +399223,17 @@ synonym: "ear neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "Ear neoplasms" EXACT [NCIT:C3000] synonym: "Ear tumor" EXACT [NCIT:C3000] synonym: "ear tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "Ear tumour" EXACT OMO:0003005 [] +synonym: "ear tumour" EXACT OMO:0003005 [] synonym: "neoplasm of Ear" EXACT [NCIT:C3000] synonym: "neoplasm of ear" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the Ear" EXACT [NCIT:C3000] synonym: "tumor of Ear" EXACT [NCIT:C3000] synonym: "tumor of ear" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of the Ear" EXACT [NCIT:C3000] +synonym: "tumour of Ear" EXACT OMO:0003005 [] +synonym: "tumour of ear" EXACT OMO:0003005 [] +synonym: "tumour of the Ear" EXACT OMO:0003005 [] xref: NCIT:C3000 {source="MONDO:equivalentTo"} xref: UMLS:C0013449 {source="NCIT:C3000", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0005586 {source="MONDO:Redundant", source="NCIT:C3000"} ! head and neck neoplasm @@ -394229,8 +399249,11 @@ synonym: "neoplasm of spinal cord" EXACT [MONDO:patterns/neoplasm, NCIT:C3381] synonym: "neoplasm of the spinal cord" EXACT [NCIT:C3381] synonym: "spinal cord neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "spinal cord tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3381] +synonym: "spinal cord tumour" EXACT OMO:0003005 [] synonym: "tumor of spinal cord" EXACT [MONDO:patterns/neoplasm, NCIT:C3381] synonym: "tumor of the spinal cord" EXACT [NCIT:C3381] +synonym: "tumour of spinal cord" EXACT OMO:0003005 [] +synonym: "tumour of the spinal cord" EXACT OMO:0003005 [] xref: MESH:D013120 {source="MONDO:equivalentTo"} xref: NCIT:C3381 {source="MONDO:equivalentTo"} xref: UMLS:C0037930 {source="NCIT:C3381", source="MONDO:equivalentTo"} @@ -394245,12 +399268,17 @@ def: "A neoplasm (disease) that involves the external ear." [MONDO:patterns/loca synonym: "external ear neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "external Ear tumor" EXACT [NCIT:C4652] synonym: "external ear tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "external Ear tumour" EXACT OMO:0003005 [] +synonym: "external ear tumour" EXACT OMO:0003005 [] synonym: "neoplasm of external Ear" EXACT [NCIT:C4652] synonym: "neoplasm of external ear" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the external Ear" EXACT [NCIT:C4652] synonym: "tumor of external Ear" EXACT [NCIT:C4652] synonym: "tumor of external ear" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of the external Ear" EXACT [NCIT:C4652] +synonym: "tumour of external Ear" EXACT OMO:0003005 [] +synonym: "tumour of external ear" EXACT OMO:0003005 [] +synonym: "tumour of the external Ear" EXACT OMO:0003005 [] xref: NCIT:C4652 {source="MONDO:equivalentTo"} xref: SCTID:277155005 {source="MONDO:equivalentTo"} xref: UMLS:C0349575 {source="MONDO:equivalentTo", source="NCIT:C4652"} @@ -394264,8 +399292,10 @@ name: adrenal medulla neoplasm def: "A neoplasm (disease) that involves the adrenal medulla." [MONDO:patterns/location] synonym: "adrenal medulla neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "adrenal medulla tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "adrenal medulla tumour" EXACT OMO:0003005 [] synonym: "neoplasm of adrenal medulla" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of adrenal medulla" EXACT [MONDO:patterns/neoplasm] +synonym: "tumour of adrenal medulla" EXACT OMO:0003005 [] xref: NCIT:C4856 {source="MONDO:equivalentTo"} xref: UMLS:C0596046 {source="MONDO:equivalentTo", source="NCIT:C4856"} is_a: MONDO:0021227 {source="MONDO:Redundant", source="NCIT:C4856"} ! adrenal gland neoplasm @@ -394278,12 +399308,16 @@ name: cornea neoplasm def: "A neoplasm (disease) that involves the cornea." [MONDO:patterns/location] synonym: "cornea neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "cornea tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4361] +synonym: "cornea tumour" EXACT OMO:0003005 [] synonym: "corneal neoplasm" EXACT [NCIT:C4361] synonym: "corneal tumor" EXACT [NCIT:C4361] +synonym: "corneal tumour" EXACT OMO:0003005 [] synonym: "neoplasm of cornea" EXACT [MONDO:patterns/neoplasm, NCIT:C4361] synonym: "neoplasm of the cornea" EXACT [NCIT:C4361] synonym: "tumor of cornea" EXACT [MONDO:patterns/neoplasm, NCIT:C4361] synonym: "tumor of the cornea" EXACT [NCIT:C4361] +synonym: "tumour of cornea" EXACT OMO:0003005 [] +synonym: "tumour of the cornea" EXACT OMO:0003005 [] xref: NCIT:C4361 {source="MONDO:equivalentTo"} xref: UMLS:C0339304 {source="NCIT:C4361", source="MONDO:equivalentTo"} is_a: MONDO:0000942 {source="MONDO:Redundant", source="NCIT:C4361"} ! corneal disorder @@ -394301,14 +399335,20 @@ synonym: "neoplasms. urethra" EXACT [NCIT:C3428] synonym: "tumor of the urethra" EXACT [NCIT:C3428] synonym: "tumor of urethra" EXACT [MONDO:patterns/neoplasm, NCIT:C3428] synonym: "tumors. urethra" EXACT [NCIT:C3428] +synonym: "tumour of the urethra" EXACT OMO:0003005 [] +synonym: "tumour of urethra" EXACT OMO:0003005 [] synonym: "urethra neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "urethra neoplasms" EXACT [NCIT:C3428] synonym: "urethra tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3428] synonym: "urethra tumors" EXACT [NCIT:C3428] +synonym: "urethra tumour" EXACT OMO:0003005 [] +synonym: "urethra tumours" EXACT OMO:0003005 [] synonym: "urethral neoplasm" EXACT [NCIT:C3428] synonym: "urethral neoplasms" EXACT [NCIT:C3428] synonym: "urethral tumor" EXACT [NCIT:C3428] synonym: "urethral tumors" EXACT [NCIT:C3428] +synonym: "urethral tumour" EXACT OMO:0003005 [] +synonym: "urethral tumours" EXACT OMO:0003005 [] xref: EFO:0003846 {source="MONDO:equivalentTo"} xref: NCIT:C3428 {source="MONDO:equivalentTo"} xref: UMLS:C0041971 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C3428"} @@ -394325,8 +399365,11 @@ synonym: "neoplasm of the tongue" EXACT [NCIT:C3416] synonym: "neoplasm of tongue" EXACT [MONDO:patterns/neoplasm, NCIT:C3416] synonym: "tongue neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "tongue tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3416] +synonym: "tongue tumour" EXACT OMO:0003005 [] synonym: "tumor of the tongue" EXACT [NCIT:C3416] synonym: "tumor of tongue" EXACT [MONDO:patterns/neoplasm, NCIT:C3416] +synonym: "tumour of the tongue" EXACT OMO:0003005 [] +synonym: "tumour of tongue" EXACT OMO:0003005 [] xref: EFO:0003871 {source="MONDO:equivalentTo"} xref: NCIT:C3416 {source="MONDO:equivalentTo"} xref: SCTID:126778001 {source="MONDO:equivalentTo"} @@ -394341,10 +399384,13 @@ name: buccal mucosa neoplasm def: "A neoplasm (disease) that involves the buccal mucosa." [MONDO:patterns/location] synonym: "buccal mucosa neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "buccal mucosa tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4405] +synonym: "buccal mucosa tumour" EXACT OMO:0003005 [] synonym: "neoplasm of buccal mucosa" EXACT [MONDO:patterns/neoplasm, NCIT:C4405] synonym: "neoplasm of the buccal mucosa" EXACT [NCIT:C4405] synonym: "tumor of buccal mucosa" EXACT [MONDO:patterns/neoplasm, NCIT:C4405] synonym: "tumor of the buccal mucosa" EXACT [NCIT:C4405] +synonym: "tumour of buccal mucosa" EXACT OMO:0003005 [] +synonym: "tumour of the buccal mucosa" EXACT OMO:0003005 [] xref: NCIT:C4405 {source="MONDO:equivalentTo"} xref: SCTID:126802007 {source="MONDO:equivalentTo"} xref: UMLS:C0345563 {source="MONDO:equivalentTo", source="NCIT:C4405"} @@ -394360,8 +399406,11 @@ synonym: "neoplasm of sublingual gland" EXACT [MONDO:patterns/neoplasm, NCIT:C33 synonym: "neoplasm of the sublingual gland" EXACT [NCIT:C3392] synonym: "sublingual gland neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "sublingual gland tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3392] +synonym: "sublingual gland tumour" EXACT OMO:0003005 [] synonym: "tumor of sublingual gland" EXACT [MONDO:patterns/neoplasm, NCIT:C3392] synonym: "tumor of the sublingual gland" EXACT [NCIT:C3392] +synonym: "tumour of sublingual gland" EXACT OMO:0003005 [] +synonym: "tumour of the sublingual gland" EXACT OMO:0003005 [] xref: EFO:1001430 {source="MONDO:equivalentTo"} xref: MESH:D013362 {source="MONDO:equivalentTo"} xref: NCIT:C3392 {source="MONDO:equivalentTo"} @@ -394381,12 +399430,18 @@ synonym: "neoplasm of the parotid" EXACT [NCIT:C3314] synonym: "neoplasm of the parotid gland" EXACT [NCIT:C3314] synonym: "parotid gland neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "parotid gland tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3314] +synonym: "parotid gland tumour" EXACT OMO:0003005 [] synonym: "parotid neoplasm" EXACT [NCIT:C3314] synonym: "parotid tumor" EXACT [NCIT:C3314] +synonym: "parotid tumour" EXACT OMO:0003005 [] synonym: "tumor of parotid" EXACT [NCIT:C3314] synonym: "tumor of parotid gland" EXACT [MONDO:patterns/neoplasm, NCIT:C3314] synonym: "tumor of the parotid" EXACT [NCIT:C3314] synonym: "tumor of the parotid gland" EXACT [NCIT:C3314] +synonym: "tumour of parotid" EXACT OMO:0003005 [] +synonym: "tumour of parotid gland" EXACT OMO:0003005 [] +synonym: "tumour of the parotid" EXACT OMO:0003005 [] +synonym: "tumour of the parotid gland" EXACT OMO:0003005 [] xref: EFO:0003873 {source="MONDO:equivalentTo"} xref: NCIT:C3314 {source="MONDO:equivalentTo"} xref: SCTID:126788000 {source="MONDO:equivalentTo"} @@ -394403,8 +399458,11 @@ synonym: "neoplasm of submandibular gland" EXACT [MONDO:patterns/neoplasm, NCIT: synonym: "neoplasm of the submandibular gland" EXACT [NCIT:C3393] synonym: "submandibular gland neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "submandibular gland tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3393] +synonym: "submandibular gland tumour" EXACT OMO:0003005 [] synonym: "tumor of submandibular gland" EXACT [MONDO:patterns/neoplasm, NCIT:C3393] synonym: "tumor of the submandibular gland" EXACT [NCIT:C3393] +synonym: "tumour of submandibular gland" EXACT OMO:0003005 [] +synonym: "tumour of the submandibular gland" EXACT OMO:0003005 [] xref: EFO:1001853 {source="MONDO:equivalentTo"} xref: MESH:D013365 {source="MONDO:equivalentTo"} xref: NCIT:C3393 {source="MONDO:equivalentTo"} @@ -394420,11 +399478,15 @@ name: oral cavity neoplasm def: "A neoplasm (disease) that involves the oral cavity." [MONDO:patterns/location] synonym: "mouth neoplasm" EXACT [NCIT:C7606] synonym: "mouth tumor" EXACT [NCIT:C7606] +synonym: "mouth tumour" EXACT OMO:0003005 [] synonym: "neoplasm of oral cavity" EXACT [MONDO:patterns/neoplasm] synonym: "oral cavity neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "oral cavity tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C7606] +synonym: "oral cavity tumour" EXACT OMO:0003005 [] synonym: "tumor of mouth" RELATED [] synonym: "tumor of oral cavity" EXACT [MONDO:patterns/neoplasm] +synonym: "tumour of mouth" RELATED OMO:0003005 [] +synonym: "tumour of oral cavity" EXACT OMO:0003005 [] xref: EFO:0003868 {source="MONDO:equivalentTo"} xref: ICD10CM:C00-C14 {source="MONDO:relatedTo", source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: NCIT:C7606 {source="MONDO:equivalentTo"} @@ -394442,10 +399504,14 @@ synonym: "neoplasm of pharynx" EXACT [MONDO:patterns/neoplasm, NCIT:C3325] synonym: "neoplasm of the pharynx" EXACT [NCIT:C3325] synonym: "pharyngeal neoplasms" EXACT [NCIT:C3325] synonym: "pharyngeal tumor" EXACT [NCIT:C3325] +synonym: "pharyngeal tumour" EXACT OMO:0003005 [] synonym: "pharynx neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "pharynx tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3325] +synonym: "pharynx tumour" EXACT OMO:0003005 [] synonym: "tumor of pharynx" EXACT [MONDO:patterns/neoplasm, NCIT:C3325] synonym: "tumor of the pharynx" EXACT [NCIT:C3325] +synonym: "tumour of pharynx" EXACT OMO:0003005 [] +synonym: "tumour of the pharynx" EXACT OMO:0003005 [] xref: ICD10CM:C00-C14 {source="MONDO:relatedTo", source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: NCIT:C3325 {source="MONDO:equivalentTo"} xref: UMLS:C0031347 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C3325"} @@ -394466,9 +399532,11 @@ synonym: "neoplasm of the nervous system" EXACT [NCIT:C3268] synonym: "nervous system neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "nervous system neoplasms" EXACT [NCIT:C3268] synonym: "nervous system tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3268] -synonym: "nervous system tumor" EXACT [NCIT:C3268] +synonym: "nervous system tumour" EXACT OMO:0003005 [] synonym: "tumor of nervous system" EXACT [MONDO:patterns/neoplasm, NCIT:C3268] synonym: "tumor of the nervous system" EXACT [NCIT:C3268] +synonym: "tumour of nervous system" EXACT OMO:0003005 [] +synonym: "tumour of the nervous system" EXACT OMO:0003005 [] xref: NCIT:C3268 {source="MONDO:equivalentTo"} xref: UMLS:C0027766 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C3268"} is_a: MONDO:0005070 {source="MONDO:Redundant", source="NCIT:C3268/inferred"} ! neoplasm @@ -394483,12 +399551,16 @@ def: "A neoplasm (disease) that involves the lip." [MONDO:patterns/location] synonym: "lip neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "lip neoplasms" EXACT [NCIT:C3191] synonym: "lip tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3191] +synonym: "lip tumour" EXACT OMO:0003005 [] synonym: "neoplasm of Lip" EXACT [NCIT:C3191] synonym: "neoplasm of lip" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the Lip" EXACT [NCIT:C3191] synonym: "tumor of Lip" EXACT [NCIT:C3191] synonym: "tumor of lip" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of the Lip" EXACT [NCIT:C3191] +synonym: "tumour of Lip" EXACT OMO:0003005 [] +synonym: "tumour of lip" EXACT OMO:0003005 [] +synonym: "tumour of the Lip" EXACT OMO:0003005 [] xref: ICD10CM:C00-C14 {source="MONDO:relatedTo", source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: NCIT:C3191 {source="MONDO:equivalentTo"} xref: SCTID:126770008 {source="MONDO:equivalentTo"} @@ -394506,11 +399578,15 @@ synonym: "neoplasm of the tonsil" EXACT [NCIT:C3417] synonym: "neoplasm of tonsil" EXACT [MONDO:patterns/neoplasm, NCIT:C3417] synonym: "tonsil neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "tonsil tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3417] +synonym: "tonsil tumour" EXACT OMO:0003005 [] synonym: "tonsillar neoplasm" EXACT [NCIT:C3417] synonym: "tonsillar neoplasms" EXACT [NCIT:C3417] synonym: "tonsillar tumor" EXACT [NCIT:C3417] +synonym: "tonsillar tumour" EXACT OMO:0003005 [] synonym: "tumor of the tonsil" EXACT [NCIT:C3417] synonym: "tumor of tonsil" EXACT [MONDO:patterns/neoplasm, NCIT:C3417] +synonym: "tumour of the tonsil" EXACT OMO:0003005 [] +synonym: "tumour of tonsil" EXACT OMO:0003005 [] xref: NCIT:C3417 {source="MONDO:equivalentTo"} xref: SCTID:127227003 {source="MONDO:equivalentTo"} xref: UMLS:C0040422 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C3417"} @@ -394524,12 +399600,16 @@ name: endometrium neoplasm def: "A neoplasm (disease) that involves the endometrium." [MONDO:patterns/location] synonym: "endometrial neoplasm" EXACT [NCIT:C3012] synonym: "endometrial tumor" EXACT [NCIT:C3012] +synonym: "endometrial tumour" EXACT OMO:0003005 [] synonym: "endometrium neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "endometrium tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3012] +synonym: "endometrium tumour" EXACT OMO:0003005 [] synonym: "neoplasm of endometrium" EXACT [MONDO:patterns/neoplasm, NCIT:C3012] synonym: "neoplasm of the endometrium" EXACT [NCIT:C3012] synonym: "tumor of endometrium" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of the endometrium" EXACT [NCIT:C3012] +synonym: "tumour of endometrium" EXACT OMO:0003005 [] +synonym: "tumour of the endometrium" EXACT OMO:0003005 [] xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D016889 {source="MONDO:equivalentTo"} xref: NCIT:C3012 {source="MONDO:equivalentTo"} @@ -394552,13 +399632,18 @@ def: "A neoplasm (disease) that involves the gall bladder." [MONDO:patterns/loca synonym: "gall bladder neoplasm" EXACT [] synonym: "gall bladder neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "gall bladder tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "gall bladder tumour" EXACT OMO:0003005 [] synonym: "gallbladder tumor" EXACT [NCIT:C3048] +synonym: "gallbladder tumour" EXACT OMO:0003005 [] synonym: "neoplasm of gall bladder" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of gallbladder" EXACT [NCIT:C3048] synonym: "neoplasm of the gallbladder" EXACT [NCIT:C3048] synonym: "tumor of gall bladder" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of gallbladder" EXACT [NCIT:C3048] synonym: "tumor of the gallbladder" EXACT [NCIT:C3048] +synonym: "tumour of gall bladder" EXACT OMO:0003005 [] +synonym: "tumour of gallbladder" EXACT OMO:0003005 [] +synonym: "tumour of the gallbladder" EXACT OMO:0003005 [] xref: MESH:D005706 {source="MONDO:equivalentTo"} xref: NCIT:C3048 {source="MONDO:equivalentTo"} xref: UMLS:C0016978 {source="MONDO:equivalentTo", source="NCIT:C3048"} @@ -394576,7 +399661,9 @@ def: "A neoplasm (disease) that involves the body of uterus." [MONDO:patterns/lo synonym: "body of uterus neoplasm" EXACT [] synonym: "body of uterus neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "body of uterus tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "body of uterus tumour" EXACT OMO:0003005 [] synonym: "corpus uteri tumor" EXACT [NCIT:C6300] +synonym: "corpus uteri tumour" EXACT OMO:0003005 [] synonym: "neoplasm of body of uterus" EXACT [MONDO:patterns/neoplasm, NCIT:C6300] synonym: "neoplasm of corpus uteri" EXACT [NCIT:C6300] synonym: "neoplasm of the body of uterus" EXACT [NCIT:C6300] @@ -394592,10 +399679,19 @@ synonym: "tumor of the uterine body" EXACT [NCIT:C6300] synonym: "tumor of the uterine corpus" EXACT [NCIT:C6300] synonym: "tumor of uterine body" EXACT [NCIT:C6300] synonym: "tumor of uterine corpus" EXACT [NCIT:C6300] +synonym: "tumour of body of uterus" EXACT OMO:0003005 [] +synonym: "tumour of corpus uteri" EXACT OMO:0003005 [] +synonym: "tumour of the corpus uteri" EXACT OMO:0003005 [] +synonym: "tumour of the uterine body" EXACT OMO:0003005 [] +synonym: "tumour of the uterine corpus" EXACT OMO:0003005 [] +synonym: "tumour of uterine body" EXACT OMO:0003005 [] +synonym: "tumour of uterine corpus" EXACT OMO:0003005 [] synonym: "uterine body neoplasm" EXACT [NCIT:C6300] synonym: "uterine body tumor" EXACT [NCIT:C6300] +synonym: "uterine body tumour" EXACT OMO:0003005 [] synonym: "uterine corpus neoplasm" EXACT [NCIT:C6300] synonym: "uterine corpus tumor" EXACT [NCIT:C6300] +synonym: "uterine corpus tumour" EXACT OMO:0003005 [] xref: NCIT:C6300 {source="MONDO:equivalentTo"} xref: SCTID:126909004 {source="MONDO:equivalentTo"} xref: UMLS:C1263777 {source="NCIT:C6300", source="MONDO:equivalentTo"} @@ -394616,17 +399712,23 @@ id: MONDO:0021258 name: choroid neoplasm def: "A neoplasm (disease) that involves the optic choroid." [MONDO:patterns/location] synonym: "choroid tumor" EXACT [NCIT:C2949] +synonym: "choroid tumour" EXACT OMO:0003005 [] synonym: "choroidal neoplasm" EXACT [NCIT:C2949] synonym: "choroidal tumor" EXACT [NCIT:C2949] +synonym: "choroidal tumour" EXACT OMO:0003005 [] synonym: "neoplasm of choroid" EXACT [NCIT:C2949] synonym: "neoplasm of optic choroid" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the choroid" EXACT [NCIT:C2949] synonym: "optic choroid neoplasm" EXACT [] synonym: "optic choroid neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "optic choroid tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "optic choroid tumour" EXACT OMO:0003005 [] synonym: "tumor of choroid" EXACT [NCIT:C2949] synonym: "tumor of optic choroid" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of the choroid" EXACT [NCIT:C2949] +synonym: "tumour of choroid" EXACT OMO:0003005 [] +synonym: "tumour of optic choroid" EXACT OMO:0003005 [] +synonym: "tumour of the choroid" EXACT OMO:0003005 [] xref: NCIT:C2949 {source="MONDO:equivalentTo"} xref: UMLS:C0008523 {source="NCIT:C2949", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0001898 {source="MONDO:Redundant", source="NCIT:C2949"} ! optic choroid disorder @@ -394645,11 +399747,16 @@ synonym: "nodular prostate" RELATED [] synonym: "prostate gland neoplasm" EXACT [] synonym: "prostate gland neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "prostate gland tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "prostate gland tumour" EXACT OMO:0003005 [] synonym: "prostate nodule" RELATED [] synonym: "prostate tumor" EXACT [NCIT:C3343] +synonym: "prostate tumour" EXACT OMO:0003005 [] synonym: "tumor of prostate" EXACT [NCIT:C3343] synonym: "tumor of prostate gland" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of the prostate" EXACT [NCIT:C3343] +synonym: "tumour of prostate" EXACT OMO:0003005 [] +synonym: "tumour of prostate gland" EXACT OMO:0003005 [] +synonym: "tumour of the prostate" EXACT OMO:0003005 [] xref: DOID:13206 {source="MONDO:equivalentTo"} xref: ICD10CM:N40 {source="DOID:13206"} xref: ICD9:600.1 {source="DOID:13206"} @@ -395224,8 +400331,10 @@ synonym: "cancer of endocervix" EXACT [MONDO:patterns/cancer] synonym: "endocervix cancer" EXACT [MONDO:patterns/location] synonym: "malignant endocervical neoplasm" EXACT [NCIT:C3553] synonym: "malignant endocervical tumor" EXACT [NCIT:C3553] +synonym: "malignant endocervical tumour" EXACT OMO:0003005 [] synonym: "malignant endocervix neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3553] synonym: "malignant endocervix tumor" EXACT [NCIT:C3553] +synonym: "malignant endocervix tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of endocervix" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of the endocervix" EXACT [NCIT:C3553] synonym: "malignant neoplasm of the uterine endocervix" EXACT [NCIT:C3553] @@ -395234,8 +400343,13 @@ synonym: "malignant tumor of endocervix" EXACT [NCIT:C3553] synonym: "malignant tumor of the endocervix" EXACT [NCIT:C3553] synonym: "malignant tumor of the uterine endocervix" EXACT [NCIT:C3553] synonym: "malignant tumor of uterine endocervix" EXACT [NCIT:C3553] +synonym: "malignant tumour of endocervix" EXACT OMO:0003005 [] +synonym: "malignant tumour of the endocervix" EXACT OMO:0003005 [] +synonym: "malignant tumour of the uterine endocervix" EXACT OMO:0003005 [] +synonym: "malignant tumour of uterine endocervix" EXACT OMO:0003005 [] synonym: "malignant uterine endocervix neoplasm" EXACT [NCIT:C3553] synonym: "malignant uterine endocervix tumor" EXACT [NCIT:C3553] +synonym: "malignant uterine endocervix tumour" EXACT OMO:0003005 [] xref: ICD10CM:C53.0 {source="MONDO:equivalentTo"} xref: ICD9:180.0 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3553 {source="MONDO:equivalentTo"} @@ -395253,9 +400367,11 @@ synonym: "cancer of neck" EXACT [MONDO:patterns/cancer, NCIT:C4940] synonym: "cancer of the neck" EXACT [NCIT:C4940] synonym: "malignant neck neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4940] synonym: "malignant neck tumor" EXACT [NCIT:C4940] +synonym: "malignant neck tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of neck" EXACT [MONDO:patterns/cancer, NCIT:C4940] synonym: "malignant neoplasm of the neck" EXACT [NCIT:C4940] synonym: "malignant tumor of the neck" EXACT [NCIT:C4940] +synonym: "malignant tumour of the neck" EXACT OMO:0003005 [] synonym: "neck cancer" EXACT [MONDO:patterns/location, NCIT:C4940] xref: NCIT:C4940 {source="MONDO:equivalentTo"} xref: SCTID:363489000 {source="MONDO:equivalentTo"} @@ -395276,11 +400392,16 @@ synonym: "malignant neoplasm of the parathyroid" EXACT [NCIT:C9322] synonym: "malignant neoplasm of the parathyroid gland" EXACT [NCIT:C9322] synonym: "malignant parathyroid gland neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C9322] synonym: "malignant parathyroid gland tumor" EXACT [NCIT:C9322] +synonym: "malignant parathyroid gland tumour" EXACT OMO:0003005 [] synonym: "malignant parathyroid neoplasm" EXACT [NCIT:C9322] synonym: "malignant parathyroid tumor" EXACT [NCIT:C9322] +synonym: "malignant parathyroid tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of parathyroid" EXACT [NCIT:C9322] synonym: "malignant tumor of the parathyroid" EXACT [NCIT:C9322] synonym: "malignant tumor of the parathyroid gland" EXACT [NCIT:C9322] +synonym: "malignant tumour of parathyroid" EXACT OMO:0003005 [] +synonym: "malignant tumour of the parathyroid" EXACT OMO:0003005 [] +synonym: "malignant tumour of the parathyroid gland" EXACT OMO:0003005 [] synonym: "parathyroid cancer" EXACT [MONDO:patterns/location] synonym: "parathyroid gland cancer" EXACT [MONDO:patterns/location] xref: ICD9:194.1 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -395300,11 +400421,14 @@ synonym: "adrenal cortex cancer" EXACT [MONDO:patterns/location] synonym: "cancer of adrenal cortex" EXACT [MONDO:patterns/cancer] synonym: "malignant adrenal cortex neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C9327] synonym: "malignant adrenal cortex tumor" EXACT [NCIT:C9327] +synonym: "malignant adrenal cortex tumour" EXACT OMO:0003005 [] synonym: "malignant adrenocortical neoplasm" EXACT [NCIT:C9327] synonym: "malignant adrenocortical tumor" EXACT [NCIT:C9327] +synonym: "malignant adrenocortical tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of adrenal cortex" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of the adrenal cortex" EXACT [NCIT:C9327] synonym: "malignant tumor of the adrenal cortex" EXACT [NCIT:C9327] +synonym: "malignant tumour of the adrenal cortex" EXACT OMO:0003005 [] xref: NCIT:C9327 {source="MONDO:equivalentTo"} xref: SCTID:371964008 {source="MONDO:equivalentTo"} xref: UMLS:C0346402 {source="NCIT:C9327", source="MONDO:notFoundInDiseaseSubset"} @@ -395320,10 +400444,13 @@ synonym: "cancer of eyelid" EXACT [MONDO:patterns/cancer] synonym: "eyelid cancer" EXACT [MONDO:patterns/location] synonym: "malignant eyelid neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C6786] synonym: "malignant eyelid tumor" EXACT [NCIT:C6786] +synonym: "malignant eyelid tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of eyelid" EXACT [MONDO:patterns/cancer, NCIT:C6786] synonym: "malignant neoplasm of the eyelid" EXACT [NCIT:C6786] synonym: "malignant tumor of eyelid" EXACT [NCIT:C6786] synonym: "malignant tumor of the eyelid" EXACT [NCIT:C6786] +synonym: "malignant tumour of eyelid" EXACT OMO:0003005 [] +synonym: "malignant tumour of the eyelid" EXACT OMO:0003005 [] xref: ICD9:173.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C6786 {source="MONDO:equivalentTo"} xref: SCTID:231829006 {source="MONDO:equivalentTo"} @@ -395339,10 +400466,12 @@ def: "A cancer that involves the nasopharynx." [MONDO:patterns/location] synonym: "cancer of nasopharynx" EXACT [MONDO:patterns/cancer] synonym: "malignant nasopharyngeal neoplasm" EXACT [NCIT:C9321] synonym: "malignant nasopharyngeal tumor" EXACT [NCIT:C9321] +synonym: "malignant nasopharyngeal tumour" EXACT OMO:0003005 [] synonym: "malignant nasopharynx neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of nasopharynx" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of the nasopharynx" EXACT [NCIT:C9321] synonym: "malignant tumor of the nasopharynx" EXACT [NCIT:C9321] +synonym: "malignant tumour of the nasopharynx" EXACT OMO:0003005 [] synonym: "nasopharynx cancer" EXACT [MONDO:patterns/location] xref: ICD9:147.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:147.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -395361,9 +400490,11 @@ def: "A cancer that involves the minor salivary gland." [MONDO:patterns/location synonym: "cancer of minor salivary gland" EXACT [MONDO:patterns/cancer] synonym: "malignant minor salivary gland neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4410] synonym: "malignant minor salivary gland tumor" EXACT [NCIT:C4410] +synonym: "malignant minor salivary gland tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of minor salivary gland" EXACT [MONDO:patterns/cancer, NCIT:C4410] synonym: "malignant neoplasm of the minor salivary gland" EXACT [NCIT:C4410] synonym: "malignant tumor of the minor salivary gland" EXACT [NCIT:C4410] +synonym: "malignant tumour of the minor salivary gland" EXACT OMO:0003005 [] synonym: "minor salivary gland cancer" RELATED [MONDO:patterns/location] xref: NCIT:C4410 {source="MONDO:equivalentTo"} xref: SCTID:363485006 {source="MONDO:equivalentTo"} @@ -395385,11 +400516,14 @@ synonym: "cerebellum cancer" EXACT [MONDO:patterns/location] synonym: "malignant cerebellar neoplasm" EXACT [NCIT:C3569] synonym: "malignant cerebellar neoplasms" EXACT [NCIT:C3569] synonym: "malignant cerebellar tumor" EXACT [NCIT:C3569] +synonym: "malignant cerebellar tumour" EXACT OMO:0003005 [] synonym: "malignant cerebellum neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of cerebellum" EXACT [MONDO:patterns/cancer, NCIT:C3569] synonym: "malignant neoplasm of the cerebellum" EXACT [NCIT:C3569] synonym: "malignant tumor of cerebellum" EXACT [NCIT:C3569] synonym: "malignant tumor of the cerebellum" EXACT [NCIT:C3569] +synonym: "malignant tumour of cerebellum" EXACT OMO:0003005 [] +synonym: "malignant tumour of the cerebellum" EXACT OMO:0003005 [] xref: ICD9:191.6 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3569 {source="MONDO:equivalentTo"} xref: SCTID:449420002 {source="MONDO:equivalentTo"} @@ -395406,13 +400540,16 @@ def: "A cancer that involves the mouth floor." [MONDO:patterns/location] synonym: "cancer of mouth floor" EXACT [MONDO:patterns/cancer] synonym: "malignant floor of mouth neoplasm" EXACT [NCIT:C9318] synonym: "malignant floor of mouth tumor" EXACT [NCIT:C9318] +synonym: "malignant floor of mouth tumour" EXACT OMO:0003005 [] synonym: "malignant floor of the mouth neoplasm" EXACT [NCIT:C9318] synonym: "malignant floor of the mouth tumor" EXACT [NCIT:C9318] +synonym: "malignant floor of the mouth tumour" EXACT OMO:0003005 [] synonym: "malignant mouth floor neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of floor of mouth" EXACT [NCIT:C9318] synonym: "malignant neoplasm of mouth floor" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of the floor of the mouth" EXACT [NCIT:C9318] synonym: "malignant tumor of the floor of the mouth" EXACT [NCIT:C9318] +synonym: "malignant tumour of the floor of the mouth" EXACT OMO:0003005 [] synonym: "mouth floor cancer" EXACT [MONDO:patterns/location] xref: ICD9:144.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:144.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -395432,9 +400569,11 @@ synonym: "cancer of extrahepatic bile duct" EXACT [MONDO:patterns/cancer] synonym: "extrahepatic bile duct cancer" BROAD [MONDO:patterns/location] synonym: "malignant extrahepatic bile duct neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7483] synonym: "malignant extrahepatic bile duct tumor" EXACT [NCIT:C7483] +synonym: "malignant extrahepatic bile duct tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of extrahepatic bile duct" EXACT [MONDO:patterns/cancer, NCIT:C7483] synonym: "malignant neoplasm of the extrahepatic bile duct" EXACT [NCIT:C7483] synonym: "malignant tumor of the extrahepatic bile duct" EXACT [NCIT:C7483] +synonym: "malignant tumour of the extrahepatic bile duct" EXACT OMO:0003005 [] xref: ICD9:156.1 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:156.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C7483 {source="MONDO:equivalentTo"} @@ -395454,13 +400593,16 @@ synonym: "cancer of the meninges" EXACT [NCIT:C4628] synonym: "malignant meningeal cluster neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant meningeal neoplasms" EXACT [NCIT:C4628] synonym: "malignant meningeal tumor" EXACT [NCIT:C4628] +synonym: "malignant meningeal tumour" EXACT OMO:0003005 [] synonym: "malignant meninges neoplasm" EXACT [NCIT:C4628] synonym: "malignant meninges tumor" EXACT [NCIT:C4628] +synonym: "malignant meninges tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of meningeal cluster" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of meninges" EXACT [NCIT:C4628] synonym: "malignant neoplasm of the meninges" EXACT [NCIT:C4628] synonym: "malignant neoplasms of meninges" EXACT [NCIT:C4628] synonym: "malignant tumor of the meninges" EXACT [NCIT:C4628] +synonym: "malignant tumour of the meninges" EXACT OMO:0003005 [] synonym: "meningeal cancer" EXACT [NCIT:C4628] synonym: "meningeal cluster cancer" EXACT [MONDO:patterns/location] synonym: "meningeal tumors, malignant" EXACT [NCIT:C4628] @@ -395480,10 +400622,13 @@ synonym: "cancer of chest wall" EXACT [MONDO:patterns/cancer] synonym: "chest wall cancer" EXACT [MONDO:patterns/location] synonym: "malignant chest wall neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4580] synonym: "malignant chest wall tumor" EXACT [NCIT:C4580] +synonym: "malignant chest wall tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of chest wall" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of the chest wall" EXACT [NCIT:C4580] synonym: "malignant tumor of chest wall" EXACT [NCIT:C4580] synonym: "malignant tumor of the chest wall" EXACT [NCIT:C4580] +synonym: "malignant tumour of chest wall" EXACT OMO:0003005 [] +synonym: "malignant tumour of the chest wall" EXACT OMO:0003005 [] xref: NCIT:C4580 {source="MONDO:equivalentTo"} xref: SCTID:712750007 {source="MONDO:equivalentTo"} xref: UMLS:C0346948 {source="NCIT:C4580", source="MONDO:equivalentTo"} @@ -395497,11 +400642,17 @@ id: MONDO:0021324 name: malignant neoplasm of abdominal esophagus def: "A cancer that involves the abdominal part of esophagus." [MONDO:patterns/location] synonym: "abdominal part of esophagus cancer" EXACT [MONDO:patterns/location] +synonym: "abdominal part of oesophagus cancer" EXACT OMO:0003005 [] synonym: "cancer of abdominal part of esophagus" EXACT [MONDO:patterns/cancer] +synonym: "cancer of abdominal part of oesophagus" EXACT OMO:0003005 [] synonym: "malignant abdominal part of esophagus neoplasm" EXACT [MONDO:patterns/cancer] +synonym: "malignant abdominal part of oesophagus neoplasm" EXACT OMO:0003005 [] synonym: "malignant neoplasm of abdominal part of esophagus" EXACT [MONDO:patterns/cancer] +synonym: "malignant neoplasm of abdominal part of oesophagus" EXACT OMO:0003005 [] synonym: "malignant neoplasm of the abdominal esophagus" EXACT [NCIT:C4764] +synonym: "malignant neoplasm of the abdominal oesophagus" EXACT OMO:0003005 [] synonym: "malignant tumor of the abdominal esophagus" EXACT [NCIT:C4764] +synonym: "malignant tumour of the abdominal oesophagus" EXACT OMO:0003005 [] xref: ICD9:150.2 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C4764 {source="MONDO:equivalentTo"} xref: SCTID:187724003 {source="MONDO:equivalentTo"} @@ -395514,10 +400665,15 @@ id: MONDO:0021325 name: malignant neoplasm of thoracic esophagus def: "A cancer that involves the thoracic part of esophagus." [MONDO:patterns/location] synonym: "cancer of thoracic part of esophagus" EXACT [MONDO:patterns/cancer] +synonym: "cancer of thoracic part of oesophagus" EXACT OMO:0003005 [] synonym: "malignant neoplasm of the thoracic esophagus" EXACT [NCIT:C3532] +synonym: "malignant neoplasm of the thoracic oesophagus" EXACT OMO:0003005 [] synonym: "malignant neoplasm of thoracic part of esophagus" EXACT [MONDO:patterns/cancer] +synonym: "malignant neoplasm of thoracic part of oesophagus" EXACT OMO:0003005 [] synonym: "malignant thoracic part of esophagus neoplasm" EXACT [MONDO:patterns/cancer] +synonym: "malignant thoracic part of oesophagus neoplasm" EXACT OMO:0003005 [] synonym: "thoracic part of esophagus cancer" EXACT [MONDO:patterns/location] +synonym: "thoracic part of oesophagus cancer" EXACT OMO:0003005 [] xref: ICD9:150.1 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3532 {source="MONDO:equivalentTo"} xref: SCTID:187723009 {source="MONDO:equivalentTo"} @@ -395530,10 +400686,15 @@ id: MONDO:0021326 name: malignant neoplasm of cervical esophagus def: "A cancer that involves the cervical part of esophagus." [MONDO:patterns/location] synonym: "cancer of cervical part of esophagus" EXACT [MONDO:patterns/cancer] +synonym: "cancer of cervical part of oesophagus" EXACT OMO:0003005 [] synonym: "cervical part of esophagus cancer" EXACT [MONDO:patterns/location] +synonym: "cervical part of oesophagus cancer" EXACT OMO:0003005 [] synonym: "malignant cervical part of esophagus neoplasm" EXACT [MONDO:patterns/cancer] +synonym: "malignant cervical part of oesophagus neoplasm" EXACT OMO:0003005 [] synonym: "malignant neoplasm of cervical part of esophagus" EXACT [MONDO:patterns/cancer] +synonym: "malignant neoplasm of cervical part of oesophagus" EXACT OMO:0003005 [] synonym: "malignant neoplasm of the cervical esophagus" EXACT [NCIT:C4763] +synonym: "malignant neoplasm of the cervical oesophagus" EXACT OMO:0003005 [] xref: ICD9:150.0 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C4763 {source="MONDO:equivalentTo"} xref: SCTID:187722004 {source="MONDO:equivalentTo"} @@ -395738,11 +400899,15 @@ synonym: "neoplasm of testis" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the testis" EXACT [NCIT:C3404] synonym: "testicular neoplasm" EXACT [NCIT:C3404] synonym: "testicular tumor" EXACT [NCIT:C3404] +synonym: "testicular tumour" EXACT OMO:0003005 [] synonym: "testis neoplasm" EXACT [ONCOTREE:TESTIS] synonym: "testis neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "testis tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "testis tumour" EXACT OMO:0003005 [] synonym: "tumor of testis" EXACT [MONDO:patterns/neoplasm, NCIT:C3404] synonym: "tumor of the testis" EXACT [NCIT:C3404] +synonym: "tumour of testis" EXACT OMO:0003005 [] +synonym: "tumour of the testis" EXACT OMO:0003005 [] xref: EFO:0004281 {source="MONDO:equivalentTo"} xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C12412 {source="ONCOTREE:TESTIS"} @@ -395766,10 +400931,15 @@ synonym: "thoracic neoplasm" EXACT [NCIT:C3406] synonym: "thoracic segment of trunk neoplasm" EXACT [] synonym: "thoracic segment of trunk neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "thoracic segment of trunk tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "thoracic segment of trunk tumour" EXACT OMO:0003005 [] synonym: "thoracic tumor" EXACT [NCIT:C3406] +synonym: "thoracic tumour" EXACT OMO:0003005 [] synonym: "tumor of the thorax" EXACT [NCIT:C3406] synonym: "tumor of thoracic segment of trunk" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of thorax" EXACT [NCIT:C3406] +synonym: "tumour of the thorax" EXACT OMO:0003005 [] +synonym: "tumour of thoracic segment of trunk" EXACT OMO:0003005 [] +synonym: "tumour of thorax" EXACT OMO:0003005 [] xref: ICD10CM:C30-C39 {source="MONDO:relatedTo", source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:239.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C3406 {source="MONDO:equivalentTo"} @@ -395787,10 +400957,13 @@ synonym: "neck neoplasm" EXACT [NCIT:C3260] synonym: "neck neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "neck neoplasms (Including All pharyngeal related neoplasms)" EXACT [NCIT:C3260] synonym: "neck tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3260] +synonym: "neck tumour" EXACT OMO:0003005 [] synonym: "neoplasm of neck" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the neck" EXACT [NCIT:C3260] synonym: "tumor of neck" EXACT [MONDO:patterns/neoplasm, NCIT:C3260] synonym: "tumor of the neck" EXACT [NCIT:C3260] +synonym: "tumour of neck" EXACT OMO:0003005 [] +synonym: "tumour of the neck" EXACT OMO:0003005 [] xref: ICD9:239.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C3260 {source="MONDO:equivalentTo"} xref: SCTID:126635000 {source="MONDO:equivalentTo"} @@ -395807,12 +400980,15 @@ synonym: "neoplasm of the uterus" EXACT [NCIT:C3435] synonym: "neoplasm of uterus" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of the uterus" EXACT [NCIT:C3435] synonym: "tumor of uterus" EXACT [MONDO:patterns/neoplasm] +synonym: "tumour of the uterus" EXACT OMO:0003005 [] synonym: "uterine neoplasm" EXACT [NCIT:C3435] synonym: "uterine neoplasms" EXACT [NCIT:C3435] synonym: "uterine tumor" EXACT [NCIT:C3435] +synonym: "uterine tumour" EXACT OMO:0003005 [] synonym: "uterus neoplasm" EXACT [ONCOTREE:UTERUS] synonym: "uterus neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "uterus tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "uterus tumour" EXACT OMO:0003005 [] xref: EFO:0003859 {source="MONDO:equivalentTo"} xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C12405 {source="ONCOTREE:UTERUS"} @@ -395834,12 +401010,15 @@ def: "A neoplasm (disease) that involves the adipose tissue." [MONDO:patterns/lo synonym: "adipose tissue neoplasm" EXACT [NCIT:C4248] synonym: "adipose tissue neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "adipose tissue tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4248] +synonym: "adipose tissue tumour" EXACT OMO:0003005 [] synonym: "lipomatous neoplasm" EXACT [NCIT:C4248] synonym: "lipomatous tumor" EXACT [NCIT:C4248] +synonym: "lipomatous tumour" EXACT OMO:0003005 [] synonym: "neoplasm of adipose tissue" EXACT [MONDO:patterns/neoplasm, NCIT:C4248] synonym: "neoplasm of the adipose tissue" EXACT [NCIT:C4248] synonym: "tumor of adipose tissue" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of the adipose tissue" EXACT [NCIT:C4248] +synonym: "tumour of the adipose tissue" EXACT OMO:0003005 [] xref: ICD9:239.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C4248 {source="MONDO:equivalentTo"} xref: SCTID:254831005 {source="MONDO:equivalentTo"} @@ -395856,13 +401035,21 @@ synonym: "esophageal neoplasm" EXACT [NCIT:C3028] synonym: "esophageal neoplasms, benign and malignant" EXACT [NCIT:C3028] synonym: "esophageal tumor" EXACT [NCIT:C3028] synonym: "esophageal tumors" EXACT [NCIT:C3028] +synonym: "esophageal tumour" EXACT OMO:0003005 [] +synonym: "esophageal tumours" EXACT OMO:0003005 [] synonym: "esophagus neoplasm" EXACT [NCIT:C3028] synonym: "esophagus neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "esophagus tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3028] synonym: "neoplasm of esophagus" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the esophagus" EXACT [NCIT:C3028] +synonym: "neoplasm of the oesophagus" EXACT OMO:0003005 [] +synonym: "oesophagus neoplasm" EXACT OMO:0003005 [] +synonym: "oesophagus neoplasm (disease)" EXACT OMO:0003005 [] +synonym: "oesophagus tumour" EXACT OMO:0003005 [] synonym: "tumor of esophagus" EXACT [MONDO:patterns/neoplasm, NCIT:C3028] synonym: "tumor of the esophagus" EXACT [NCIT:C3028] +synonym: "tumour of oesophagus" EXACT OMO:0003005 [] +synonym: "tumour of the oesophagus" EXACT OMO:0003005 [] xref: NCIT:C3028 {source="MONDO:equivalentTo"} xref: SCTID:126817006 {source="MONDO:equivalentTo"} xref: UMLS:C0014859 {source="MONDO:equivalentTo", source="NCIT:C3028"} @@ -395880,10 +401067,14 @@ synonym: "neoplasm of the salivary gland" EXACT [NCIT:C3361] synonym: "saliva-secreting gland neoplasm" EXACT [] synonym: "saliva-secreting gland neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "saliva-secreting gland tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "saliva-secreting gland tumour" EXACT OMO:0003005 [] synonym: "salivary gland neoplasm" EXACT [NCIT:C3361] synonym: "salivary gland tumor" EXACT [NCIT:C3361] +synonym: "salivary gland tumour" EXACT OMO:0003005 [] synonym: "tumor of saliva-secreting gland" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of the salivary gland" EXACT [NCIT:C3361] +synonym: "tumour of saliva-secreting gland" EXACT OMO:0003005 [] +synonym: "tumour of the salivary gland" EXACT OMO:0003005 [] xref: EFO:0003826 {source="MONDO:equivalentTo"} xref: NCIT:C3361 {source="MONDO:equivalentTo"} xref: SCTID:235132004 {source="MONDO:equivalentTo"} @@ -395900,13 +401091,17 @@ def: "A neoplasm (disease) that involves the hypopharynx." [MONDO:patterns/locat synonym: "hypopharyngeal neoplasm" EXACT [NCIT:C3127] synonym: "hypopharyngeal neoplasms" EXACT [NCIT:C3127] synonym: "hypopharyngeal tumor" EXACT [NCIT:C3127] +synonym: "hypopharyngeal tumour" EXACT OMO:0003005 [] synonym: "hypopharynx neoplasm" EXACT [] synonym: "hypopharynx neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "hypopharynx tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "hypopharynx tumour" EXACT OMO:0003005 [] synonym: "neoplasm of hypopharynx" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the hypopharynx" EXACT [NCIT:C3127] synonym: "tumor of hypopharynx" EXACT [MONDO:patterns/neoplasm, NCIT:C3127] synonym: "tumor of the hypopharynx" EXACT [NCIT:C3127] +synonym: "tumour of hypopharynx" EXACT OMO:0003005 [] +synonym: "tumour of the hypopharynx" EXACT OMO:0003005 [] xref: NCIT:C3127 {source="MONDO:equivalentTo"} xref: SCTID:126686005 {source="MONDO:equivalentTo"} xref: UMLS:C0020627 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C3127"} @@ -395926,12 +401121,17 @@ synonym: "neoplasm of the parathyroid gland" EXACT [NCIT:C3313] synonym: "parathyroid gland neoplasm" EXACT [NCIT:C3313] synonym: "parathyroid gland neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "parathyroid gland tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3313] +synonym: "parathyroid gland tumour" EXACT OMO:0003005 [] synonym: "parathyroid neoplasm" EXACT [NCIT:C3313] synonym: "parathyroid tumor" EXACT [NCIT:C3313] +synonym: "parathyroid tumour" EXACT OMO:0003005 [] synonym: "tumor of parathyroid" EXACT [NCIT:C3313] synonym: "tumor of parathyroid gland" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of the parathyroid" EXACT [NCIT:C3313] synonym: "tumor of the parathyroid gland" EXACT [NCIT:C3313] +synonym: "tumour of parathyroid" EXACT OMO:0003005 [] +synonym: "tumour of the parathyroid" EXACT OMO:0003005 [] +synonym: "tumour of the parathyroid gland" EXACT OMO:0003005 [] xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C3313 {source="MONDO:equivalentTo"} xref: SCTID:127020005 {source="MONDO:equivalentTo"} @@ -395949,11 +401149,15 @@ synonym: "neoplasm of the oropharynx" EXACT [NCIT:C3291] synonym: "oropharyngeal neoplasm" EXACT [NCIT:C3291] synonym: "oropharyngeal neoplasms" EXACT [NCIT:C3291] synonym: "oropharyngeal tumor" EXACT [NCIT:C3291] +synonym: "oropharyngeal tumour" EXACT OMO:0003005 [] synonym: "oropharynx neoplasm" EXACT [] synonym: "oropharynx neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "oropharynx tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "oropharynx tumour" EXACT OMO:0003005 [] synonym: "tumor of oropharynx" EXACT [MONDO:patterns/neoplasm, NCIT:C3291] synonym: "tumor of the oropharynx" EXACT [NCIT:C3291] +synonym: "tumour of oropharynx" EXACT OMO:0003005 [] +synonym: "tumour of the oropharynx" EXACT OMO:0003005 [] xref: NCIT:C3291 {source="MONDO:equivalentTo"} xref: SCTID:126809003 {source="MONDO:equivalentTo"} xref: UMLS:C0029295 {source="MONDO:equivalentTo", source="NCIT:C3291"} @@ -395972,11 +401176,16 @@ synonym: "middle ear neoplasm" EXACT [] synonym: "middle ear neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "middle Ear tumor" EXACT [NCIT:C4412] synonym: "middle ear tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "middle Ear tumour" EXACT OMO:0003005 [] +synonym: "middle ear tumour" EXACT OMO:0003005 [] synonym: "neoplasm of middle ear" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the middle Ear" EXACT [NCIT:C4412] synonym: "tumor of middle Ear" EXACT [NCIT:C4412] synonym: "tumor of middle ear" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of the middle Ear" EXACT [NCIT:C4412] +synonym: "tumour of middle Ear" EXACT OMO:0003005 [] +synonym: "tumour of middle ear" EXACT OMO:0003005 [] +synonym: "tumour of the middle Ear" EXACT OMO:0003005 [] xref: ICD9:239.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C4412 {source="MONDO:equivalentTo"} xref: SCTID:127006003 {source="MONDO:equivalentTo"} @@ -395990,15 +401199,23 @@ intersection_of: disease_has_location UBERON:0001756 ! middle ear id: MONDO:0021367 name: leukemia, myeloid, accelerated-phase def: "The phase of chronic myeloid leukemia following the chronic phase (leukemia, myeloid, chronic-phase), where there are increased systemic symptoms, worsening cytopenias, and refractory leukocytosis." [MESH:D015465] +synonym: "Accelerated Phase Chronic Granulocytic Leukaemia" RELATED OMO:0003005 [] synonym: "Accelerated Phase Chronic Granulocytic Leukemia" RELATED [NCIT:C3173] +synonym: "Accelerated Phase Chronic Myelocytic Leukaemia" RELATED OMO:0003005 [] synonym: "Accelerated Phase Chronic Myelocytic Leukemia" RELATED [NCIT:C3173] +synonym: "Accelerated Phase Chronic Myelogenous Leukaemia" RELATED OMO:0003005 [] synonym: "Accelerated Phase Chronic Myelogenous Leukemia" RELATED [NCIT:C3173] synonym: "Accelerated Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive" RELATED [NCIT:C3173] +synonym: "Accelerated Phase Chronic Myeloid Leukaemia" RELATED OMO:0003005 [] +synonym: "Accelerated phase chronic myeloid leukaemia" RELATED OMO:0003005 [] synonym: "Accelerated Phase Chronic Myeloid Leukemia" RELATED [NCIT:C3173] synonym: "Accelerated phase chronic myeloid leukemia" RELATED [UMLS:C0023472] synonym: "Accelerated Phase CML" RELATED [NCIT:C3173] +synonym: "Aggressive-Phase Chronic Myelocytic Leukaemia" RELATED OMO:0003005 [] synonym: "Aggressive-Phase Chronic Myelocytic Leukemia" RELATED [NCIT:C3173] +synonym: "Aggressive-Phase Chronic Myelogenous Leukaemia" RELATED OMO:0003005 [] synonym: "Aggressive-Phase Chronic Myelogenous Leukemia" RELATED [NCIT:C3173] +synonym: "Aggressive-Phase Chronic Myeloid Leukaemia" RELATED OMO:0003005 [] synonym: "Aggressive-Phase Chronic Myeloid Leukemia" RELATED [NCIT:C3173] synonym: "Aggressive-Phase CML" RELATED [NCIT:C3173] synonym: "CML ACCELERATED" RELATED [MESH:D015465] @@ -396028,11 +401245,15 @@ def: "A neoplasm (disease) that involves the major salivary gland." [MONDO:patte synonym: "major salivary gland neoplasm" EXACT [NCIT:C4407] synonym: "major salivary gland neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "major salivary gland tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4407] +synonym: "major salivary gland tumour" EXACT OMO:0003005 [] synonym: "neoplasm of major salivary gland" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the Major salivary gland" EXACT [NCIT:C4407] synonym: "tumor of Major salivary gland" EXACT [NCIT:C4407] synonym: "tumor of major salivary gland" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of the Major salivary gland" EXACT [NCIT:C4407] +synonym: "tumour of Major salivary gland" EXACT OMO:0003005 [] +synonym: "tumour of major salivary gland" EXACT OMO:0003005 [] +synonym: "tumour of the Major salivary gland" EXACT OMO:0003005 [] xref: NCIT:C4407 {source="MONDO:equivalentTo"} xref: SCTID:126787005 {source="MONDO:equivalentTo"} xref: UMLS:C0345599 {source="MONDO:equivalentTo", source="NCIT:C4407"} @@ -396047,10 +401268,13 @@ def: "A neoplasm (disease) that involves the minor salivary gland." [MONDO:patte synonym: "minor salivary gland neoplasm" EXACT [NCIT:C4409] synonym: "minor salivary gland neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "minor salivary gland tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4409] +synonym: "minor salivary gland tumour" EXACT OMO:0003005 [] synonym: "neoplasm of minor salivary gland" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the minor salivary gland" EXACT [NCIT:C4409] synonym: "tumor of minor salivary gland" EXACT [MONDO:patterns/neoplasm, NCIT:C4409] synonym: "tumor of the minor salivary gland" EXACT [NCIT:C4409] +synonym: "tumour of minor salivary gland" EXACT OMO:0003005 [] +synonym: "tumour of the minor salivary gland" EXACT OMO:0003005 [] xref: NCIT:C4409 {source="MONDO:equivalentTo"} xref: SCTID:126798006 {source="MONDO:equivalentTo"} xref: UMLS:C0345613 {source="NCIT:C4409", source="MONDO:equivalentTo"} @@ -396067,8 +401291,11 @@ synonym: "neoplasm of the temporal lobe" EXACT [NCIT:C5567] synonym: "temporal lobe neoplasm" EXACT [NCIT:C5567] synonym: "temporal lobe neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "temporal lobe tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5567] +synonym: "temporal lobe tumour" EXACT OMO:0003005 [] synonym: "tumor of temporal lobe" EXACT [MONDO:patterns/neoplasm, NCIT:C5567] synonym: "tumor of the temporal lobe" EXACT [NCIT:C5567] +synonym: "tumour of temporal lobe" EXACT OMO:0003005 [] +synonym: "tumour of the temporal lobe" EXACT OMO:0003005 [] xref: NCIT:C5567 {source="MONDO:equivalentTo"} xref: SCTID:126955002 {source="MONDO:equivalentTo"} xref: UMLS:C1263887 {source="MONDO:equivalentTo", source="NCIT:C5567"} @@ -396085,8 +401312,11 @@ synonym: "neoplasm of the parietal lobe" EXACT [NCIT:C5573] synonym: "parietal lobe neoplasm" EXACT [] synonym: "parietal lobe neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "parietal lobe tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5573] +synonym: "parietal lobe tumour" EXACT OMO:0003005 [] synonym: "tumor of parietal lobe" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of the parietal lobe" EXACT [NCIT:C5573] +synonym: "tumour of parietal lobe" EXACT OMO:0003005 [] +synonym: "tumour of the parietal lobe" EXACT OMO:0003005 [] xref: NCIT:C5573 {source="MONDO:equivalentTo"} xref: SCTID:126956001 {source="MONDO:equivalentTo"} xref: UMLS:C1263888 {source="NCIT:C5573", source="MONDO:equivalentTo"} @@ -396100,11 +401330,14 @@ name: neoplasm of cerebral hemisphere def: "A neoplasm involving a cerebral hemisphere." [MONDO:patterns/neoplasm] synonym: "cerebral hemisphere neoplasm" EXACT [] synonym: "cerebral hemisphere tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "cerebral hemisphere tumour" EXACT OMO:0003005 [] synonym: "cerebral hemispheric neoplasm" EXACT [NCIT:C4874] synonym: "cerebral hemispheric tumor" EXACT [NCIT:C4874] +synonym: "cerebral hemispheric tumour" EXACT OMO:0003005 [] synonym: "cerebral neoplasm" EXACT [NCIT:C4874] synonym: "cerebral neoplasms" EXACT [NCIT:C4874] synonym: "cerebral tumor" EXACT [NCIT:C4874] +synonym: "cerebral tumour" EXACT OMO:0003005 [] synonym: "neoplasm of cerebral hemisphere" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of cerebral hemispheres" EXACT [NCIT:C4874] synonym: "neoplasm of cerebrum" EXACT [NCIT:C4874] @@ -396113,12 +401346,19 @@ synonym: "neoplasm of the cerebral hemispheres" EXACT [NCIT:C4874] synonym: "neoplasm of the cerebrum" EXACT [NCIT:C4874] synonym: "telencephalon neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "telencephalon tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "telencephalon tumour" EXACT OMO:0003005 [] synonym: "tumor of cerebral hemisphere" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of cerebral hemispheres" EXACT [NCIT:C4874] synonym: "tumor of cerebrum" EXACT [NCIT:C4874] synonym: "tumor of telencephalon" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of the cerebral hemispheres" EXACT [NCIT:C4874] synonym: "tumor of the cerebrum" EXACT [NCIT:C4874] +synonym: "tumour of cerebral hemisphere" EXACT OMO:0003005 [] +synonym: "tumour of cerebral hemispheres" EXACT OMO:0003005 [] +synonym: "tumour of cerebrum" EXACT OMO:0003005 [] +synonym: "tumour of telencephalon" EXACT OMO:0003005 [] +synonym: "tumour of the cerebral hemispheres" EXACT OMO:0003005 [] +synonym: "tumour of the cerebrum" EXACT OMO:0003005 [] xref: NCIT:C4874 {source="MONDO:equivalentTo"} xref: SCTID:126953009 {source="MONDO:equivalentTo"} xref: UMLS:C1263885 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C4874"} @@ -396132,13 +401372,16 @@ name: tumor of duodenum def: "A neoplasm (disease) that involves the duodenum." [MONDO:patterns/location] synonym: "duodenal neoplasm" EXACT [NCIT:C2995] synonym: "duodenal tumor" EXACT [NCIT:C2995] +synonym: "duodenal tumour" EXACT OMO:0003005 [] synonym: "duodenum neoplasm" EXACT [] synonym: "duodenum neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "duodenum tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "duodenum tumour" EXACT OMO:0003005 [] synonym: "neoplasm of duodenum" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the duodenum" EXACT [NCIT:C2995] synonym: "tumor of duodenum" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of the duodenum" EXACT [NCIT:C2995] +synonym: "tumour of the duodenum" EXACT OMO:0003005 [] xref: NCIT:C2995 {source="MONDO:equivalentTo"} xref: SCTID:126833009 {source="MONDO:equivalentTo"} xref: UMLS:C0013291 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C2995"} @@ -396167,13 +401410,17 @@ name: neoplasm of endocardium def: "A neoplasm (disease) that involves the endocardium." [MONDO:patterns/location] synonym: "endocardial neoplasm" EXACT [NCIT:C5346] synonym: "endocardial tumor" EXACT [NCIT:C5346] +synonym: "endocardial tumour" EXACT OMO:0003005 [] synonym: "endocardium neoplasm" EXACT [] synonym: "endocardium neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "endocardium tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "endocardium tumour" EXACT OMO:0003005 [] synonym: "neoplasm of endocardium" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the endocardium" EXACT [NCIT:C5346] synonym: "tumor of endocardium" EXACT [MONDO:patterns/neoplasm, NCIT:C5346] synonym: "tumor of the endocardium" EXACT [NCIT:C5346] +synonym: "tumour of endocardium" EXACT OMO:0003005 [] +synonym: "tumour of the endocardium" EXACT OMO:0003005 [] xref: ICD9:239.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C5346 {source="MONDO:equivalentTo"} xref: SCTID:126731002 {source="MONDO:equivalentTo"} @@ -396188,13 +401435,17 @@ name: neoplasm of epicardium def: "A neoplasm (disease) that involves the epicardium." [MONDO:patterns/location] synonym: "epicardial neoplasm" EXACT [NCIT:C5347] synonym: "epicardial tumor" EXACT [NCIT:C5347] +synonym: "epicardial tumour" EXACT OMO:0003005 [] synonym: "epicardium neoplasm" EXACT [] synonym: "epicardium neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "epicardium tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "epicardium tumour" EXACT OMO:0003005 [] synonym: "neoplasm of epicardium" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the epicardium" EXACT [NCIT:C5347] synonym: "tumor of epicardium" EXACT [MONDO:patterns/neoplasm, NCIT:C5347] synonym: "tumor of the epicardium" EXACT [NCIT:C5347] +synonym: "tumour of epicardium" EXACT OMO:0003005 [] +synonym: "tumour of the epicardium" EXACT OMO:0003005 [] xref: ICD9:239.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C5347 {source="MONDO:equivalentTo"} xref: SCTID:126733004 {source="MONDO:equivalentTo"} @@ -396210,13 +401461,17 @@ name: neoplasm of myocardium def: "A neoplasm (disease) that involves the myocardium." [MONDO:patterns/location] synonym: "myocardial neoplasm" EXACT [NCIT:C5349] synonym: "myocardial tumor" EXACT [NCIT:C5349] +synonym: "myocardial tumour" EXACT OMO:0003005 [] synonym: "myocardium neoplasm" EXACT [] synonym: "myocardium neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "myocardium tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "myocardium tumour" EXACT OMO:0003005 [] synonym: "neoplasm of myocardium" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the myocardium" EXACT [NCIT:C5349] synonym: "tumor of myocardium" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of the myocardium" EXACT [NCIT:C5349] +synonym: "tumour of myocardium" EXACT OMO:0003005 [] +synonym: "tumour of the myocardium" EXACT OMO:0003005 [] xref: ICD9:239.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C5349 {source="MONDO:equivalentTo"} xref: SCTID:126732009 {source="MONDO:equivalentTo"} @@ -396233,11 +401488,15 @@ synonym: "neoplasm of pericardium" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the pericardium" EXACT [NCIT:C4651] synonym: "pericardial neoplasm" EXACT [NCIT:C4651] synonym: "pericardial tumor" EXACT [NCIT:C4651] +synonym: "pericardial tumour" EXACT OMO:0003005 [] synonym: "pericardium neoplasm" EXACT [] synonym: "pericardium neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "pericardium tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "pericardium tumour" EXACT OMO:0003005 [] synonym: "tumor of pericardium" EXACT [MONDO:patterns/neoplasm, NCIT:C4651] synonym: "tumor of the pericardium" EXACT [NCIT:C4651] +synonym: "tumour of pericardium" EXACT OMO:0003005 [] +synonym: "tumour of the pericardium" EXACT OMO:0003005 [] xref: ICD9:239.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C4651 {source="MONDO:equivalentTo"} xref: SCTID:126734005 {source="MONDO:equivalentTo"} @@ -396252,16 +401511,22 @@ name: neoplasm of floor of mouth def: "A neoplasm (disease) that involves the mouth floor." [MONDO:patterns/location] synonym: "floor of mouth neoplasm" EXACT [NCIT:C4401] synonym: "floor of mouth tumor" EXACT [NCIT:C4401] +synonym: "floor of mouth tumour" EXACT OMO:0003005 [] synonym: "floor of the mouth neoplasm" EXACT [NCIT:C4401] synonym: "floor of the mouth tumor" EXACT [NCIT:C4401] +synonym: "floor of the mouth tumour" EXACT OMO:0003005 [] synonym: "mouth floor neoplasm" EXACT [] synonym: "mouth floor neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "mouth floor tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "mouth floor tumour" EXACT OMO:0003005 [] synonym: "neoplasm of mouth floor" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the floor of the mouth" EXACT [NCIT:C4401] synonym: "tumor of floor of mouth" EXACT [NCIT:C4401] synonym: "tumor of mouth floor" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of the floor of the mouth" EXACT [NCIT:C4401] +synonym: "tumour of floor of mouth" EXACT OMO:0003005 [] +synonym: "tumour of mouth floor" EXACT OMO:0003005 [] +synonym: "tumour of the floor of the mouth" EXACT OMO:0003005 [] xref: NCIT:C4401 {source="MONDO:equivalentTo"} xref: SCTID:126799003 {source="MONDO:equivalentTo"} xref: UMLS:C0345538 {source="MONDO:equivalentTo", source="NCIT:C4401"} @@ -396277,10 +401542,13 @@ def: "A benign or malignant neoplasm that affects the extrahepatic bile ducts. R synonym: "extrahepatic bile duct neoplasm" EXACT [NCIT:C4441] synonym: "extrahepatic bile duct neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "extrahepatic bile duct tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4441] +synonym: "extrahepatic bile duct tumour" EXACT OMO:0003005 [] synonym: "neoplasm of extrahepatic bile duct" EXACT [MONDO:patterns/neoplasm, NCIT:C4441] synonym: "neoplasm of the extrahepatic bile duct" EXACT [NCIT:C4441] synonym: "tumor of extrahepatic bile duct" EXACT [MONDO:patterns/neoplasm, NCIT:C4441] synonym: "tumor of the extrahepatic bile duct" EXACT [NCIT:C4441] +synonym: "tumour of extrahepatic bile duct" EXACT OMO:0003005 [] +synonym: "tumour of the extrahepatic bile duct" EXACT OMO:0003005 [] xref: NCIT:C4441 {source="MONDO:equivalentTo"} xref: SCTID:126855001 {source="MONDO:equivalentTo"} xref: UMLS:C0345913 {source="NCIT:C4441", source="MONDO:equivalentTo"} @@ -396296,13 +401564,17 @@ def: "A neoplasm (disease) that involves the mediastinum." [MONDO:patterns/locat synonym: "mediastinal neoplasm" EXACT [NCIT:C3221] synonym: "mediastinal neoplasm NOS" RELATED EXCLUDE [NCIT:C3221] synonym: "mediastinal tumor" EXACT [NCIT:C3221] +synonym: "mediastinal tumour" EXACT OMO:0003005 [] synonym: "mediastinum neoplasm" EXACT [] synonym: "mediastinum neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "mediastinum tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "mediastinum tumour" EXACT OMO:0003005 [] synonym: "neoplasm of mediastinum" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the mediastinum" EXACT [NCIT:C3221] synonym: "tumor of mediastinum" EXACT [MONDO:patterns/neoplasm, NCIT:C3221] synonym: "tumor of the mediastinum" EXACT [NCIT:C3221] +synonym: "tumour of mediastinum" EXACT OMO:0003005 [] +synonym: "tumour of the mediastinum" EXACT OMO:0003005 [] xref: ICD9:239.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C3221 {source="MONDO:equivalentTo"} xref: SCTID:126725000 {source="MONDO:equivalentTo"} @@ -396318,10 +401590,13 @@ def: "A neoplasm (disease) that involves the chest wall." [MONDO:patterns/locati synonym: "chest wall neoplasm" EXACT [NCIT:C4929] synonym: "chest wall neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "chest wall tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4929] +synonym: "chest wall tumour" EXACT OMO:0003005 [] synonym: "neoplasm of chest wall" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the chest wall" EXACT [NCIT:C4929] synonym: "tumor of chest wall" EXACT [MONDO:patterns/neoplasm, NCIT:C4929] synonym: "tumor of the chest wall" EXACT [NCIT:C4929] +synonym: "tumour of chest wall" EXACT OMO:0003005 [] +synonym: "tumour of the chest wall" EXACT OMO:0003005 [] xref: ICD9:239.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C4929 {source="MONDO:equivalentTo"} xref: SCTID:126640008 {source="MONDO:equivalentTo"} @@ -396338,6 +401613,7 @@ synonym: "aortic body neoplasm" EXACT [NCIT:C4218] synonym: "aortic body neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "aortic body paraganglioma" EXACT [NCIT:C4218] synonym: "aortic body tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4218] +synonym: "aortic body tumour" EXACT OMO:0003005 [] synonym: "aorticopulmonary paraganglioma" EXACT [NCIT:C4218] synonym: "neoplasm of aortic body" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the aortic body" EXACT [NCIT:C4218] @@ -396345,6 +401621,8 @@ synonym: "paraganglioma of aortic body" EXACT [NCIT:C4218] synonym: "paraganglioma of the aortic body" EXACT [NCIT:C4218] synonym: "tumor of aortic body" EXACT [MONDO:patterns/neoplasm, NCIT:C4218] synonym: "tumor of the aortic body" EXACT [NCIT:C4218] +synonym: "tumour of aortic body" EXACT OMO:0003005 [] +synonym: "tumour of the aortic body" EXACT OMO:0003005 [] xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:8691/1 {source="NCIT:C4218"} xref: NCIT:C4218 {source="MONDO:equivalentTo"} @@ -396659,12 +401937,18 @@ synonym: "benign neoplasm of the pituitary" EXACT [NCIT:C4782] synonym: "benign neoplasm of the pituitary gland" EXACT [NCIT:C4782] synonym: "benign pituitary gland neoplasm" EXACT [NCIT:C4782] synonym: "benign pituitary gland tumor" EXACT [NCIT:C4782] +synonym: "benign pituitary gland tumour" EXACT OMO:0003005 [] synonym: "benign pituitary neoplasm" EXACT [NCIT:C4782] synonym: "benign pituitary tumor" EXACT [NCIT:C4782] +synonym: "benign pituitary tumour" EXACT OMO:0003005 [] synonym: "benign tumor of pituitary" EXACT [NCIT:C4782] synonym: "benign tumor of pituitary gland" EXACT [NCIT:C4782] synonym: "benign tumor of the pituitary" EXACT [NCIT:C4782] synonym: "benign tumor of the pituitary gland" EXACT [NCIT:C4782] +synonym: "benign tumour of pituitary" EXACT OMO:0003005 [] +synonym: "benign tumour of pituitary gland" EXACT OMO:0003005 [] +synonym: "benign tumour of the pituitary" EXACT OMO:0003005 [] +synonym: "benign tumour of the pituitary gland" EXACT OMO:0003005 [] synonym: "pituitary gland benign neoplasm" EXACT [MONDO:patterns/location] synonym: "pituitary neoplasms, benign" EXACT [NCIT:C4782] synonym: "pituitary tumor, benign" EXACT [NCIT:C4782] @@ -396685,11 +401969,15 @@ name: benign neoplasm of skin def: "A benign neoplasm that involves the zone of skin." [MONDO:patterns/location] synonym: "benign cutaneous neoplasm" EXACT [NCIT:C2896] synonym: "benign cutaneous tumor" EXACT [NCIT:C2896] +synonym: "benign cutaneous tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the skin" EXACT [NCIT:C2896] synonym: "benign skin neoplasm" EXACT [NCIT:C2896] synonym: "benign skin tumor" EXACT [NCIT:C2896] +synonym: "benign skin tumour" EXACT OMO:0003005 [] synonym: "benign tumor of skin" EXACT [NCIT:C2896] synonym: "benign tumor of the skin" EXACT [NCIT:C2896] +synonym: "benign tumour of skin" EXACT OMO:0003005 [] +synonym: "benign tumour of the skin" EXACT OMO:0003005 [] synonym: "skin neoplasms, benign" EXACT [NCIT:C2896] synonym: "zone of skin benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD9:216.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -396707,10 +401995,13 @@ name: benign neoplasm of exocrine pancreas def: "A benign neoplasm that involves the exocrine pancreas." [MONDO:patterns/location] synonym: "benign exocrine pancreas neoplasm" EXACT [NCIT:C4613] synonym: "benign exocrine pancreas tumor" EXACT [NCIT:C4613] +synonym: "benign exocrine pancreas tumour" EXACT OMO:0003005 [] synonym: "benign exocrine pancreatic neoplasm" EXACT [NCIT:C4613] synonym: "benign neoplasm of the exocrine pancreas" EXACT [NCIT:C4613] synonym: "benign tumor of exocrine pancreas" EXACT [NCIT:C4613] synonym: "benign tumor of the exocrine pancreas" EXACT [NCIT:C4613] +synonym: "benign tumour of exocrine pancreas" EXACT OMO:0003005 [] +synonym: "benign tumour of the exocrine pancreas" EXACT OMO:0003005 [] synonym: "exocrine pancreas benign neoplasm" EXACT [MONDO:patterns/location] xref: DOID:0080781 {source="MONDO:equivalentTo"} xref: NCIT:C4613 {source="MONDO:equivalentTo"} @@ -396728,9 +402019,12 @@ def: "A benign neoplasm that involves the lymph node." [MONDO:patterns/location] synonym: "benign lymph node neoplasm" EXACT [NCIT:C3636] synonym: "benign lymph node neoplasm NOS" RELATED EXCLUDE [NCIT:C3636] synonym: "benign lymph node tumor" EXACT [NCIT:C3636] +synonym: "benign lymph node tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the lymph node" EXACT [NCIT:C3636] synonym: "benign tumor of lymph node" EXACT [NCIT:C3636] synonym: "benign tumor of the lymph node" EXACT [NCIT:C3636] +synonym: "benign tumour of lymph node" EXACT OMO:0003005 [] +synonym: "benign tumour of the lymph node" EXACT OMO:0003005 [] synonym: "lymph node benign neoplasm" EXACT [MONDO:patterns/location] xref: DOID:0080617 {source="MONDO:equivalentTo"} xref: ICD9:229.0 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -396749,10 +402043,14 @@ synonym: "benign colorectal neoplasm" EXACT [NCIT:C4610] synonym: "benign colorectal neoplasms" EXACT [NCIT:C4610] synonym: "benign colorectal tumor" EXACT [NCIT:C4610] synonym: "benign colorectal tumors" EXACT [NCIT:C4610] +synonym: "benign colorectal tumour" EXACT OMO:0003005 [] +synonym: "benign colorectal tumours" EXACT OMO:0003005 [] synonym: "benign large bowel neoplasm" EXACT [NCIT:C4610] synonym: "benign large bowel tumor" EXACT [NCIT:C4610] +synonym: "benign large bowel tumour" EXACT OMO:0003005 [] synonym: "benign large intestine neoplasm" EXACT [NCIT:C4610] synonym: "benign large intestine tumor" EXACT [NCIT:C4610] +synonym: "benign large intestine tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of large bowel" EXACT [NCIT:C4610] synonym: "benign neoplasm of the large bowel" EXACT [NCIT:C4610] synonym: "benign neoplasm of the large intestine" EXACT [NCIT:C4610] @@ -396760,6 +402058,10 @@ synonym: "benign tumor of large bowel" EXACT [NCIT:C4610] synonym: "benign tumor of large intestine" EXACT [NCIT:C4610] synonym: "benign tumor of the large bowel" EXACT [NCIT:C4610] synonym: "benign tumor of the large intestine" EXACT [NCIT:C4610] +synonym: "benign tumour of large bowel" EXACT OMO:0003005 [] +synonym: "benign tumour of large intestine" EXACT OMO:0003005 [] +synonym: "benign tumour of the large bowel" EXACT OMO:0003005 [] +synonym: "benign tumour of the large intestine" EXACT OMO:0003005 [] synonym: "colorectal neoplasms, benign" EXACT [NCIT:C4610] synonym: "colorectal tumors, benign" EXACT [NCIT:C4610] synonym: "large intestine benign neoplasm" EXACT [MONDO:patterns/location] @@ -396778,15 +402080,21 @@ name: benign neoplasm of oral cavity def: "A benign neoplasm that involves the oral cavity." [MONDO:patterns/location] synonym: "benign mouth neoplasm" EXACT [NCIT:C7607] synonym: "benign mouth tumor" EXACT [NCIT:C7607] +synonym: "benign mouth tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of mouth" EXACT [NCIT:C7607] synonym: "benign neoplasm of the mouth" EXACT [NCIT:C7607] synonym: "benign neoplasm of the oral cavity" EXACT [NCIT:C7607] synonym: "benign oral cavity neoplasm" EXACT [NCIT:C7607] synonym: "benign oral cavity tumor" EXACT [NCIT:C7607] +synonym: "benign oral cavity tumour" EXACT OMO:0003005 [] synonym: "benign tumor of mouth" EXACT [NCIT:C7607] synonym: "benign tumor of oral cavity" EXACT [NCIT:C7607] synonym: "benign tumor of the mouth" EXACT [NCIT:C7607] synonym: "benign tumor of the oral cavity" EXACT [NCIT:C7607] +synonym: "benign tumour of mouth" EXACT OMO:0003005 [] +synonym: "benign tumour of oral cavity" EXACT OMO:0003005 [] +synonym: "benign tumour of the mouth" EXACT OMO:0003005 [] +synonym: "benign tumour of the oral cavity" EXACT OMO:0003005 [] synonym: "oral cavity benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD9:210.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C7607 {source="MONDO:equivalentTo"} @@ -396802,11 +402110,15 @@ name: benign neoplasm of epiglottis def: "A benign neoplasm that involves the epiglottis." [MONDO:patterns/location] synonym: "benign epiglottic neoplasm" EXACT [NCIT:C4606] synonym: "benign epiglottic tumor" EXACT [NCIT:C4606] +synonym: "benign epiglottic tumour" EXACT OMO:0003005 [] synonym: "benign Epiglottis neoplasm" EXACT [NCIT:C4606] synonym: "benign Epiglottis tumor" EXACT [NCIT:C4606] +synonym: "benign Epiglottis tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the Epiglottis" EXACT [NCIT:C4606] synonym: "benign tumor of Epiglottis" EXACT [NCIT:C4606] synonym: "benign tumor of the Epiglottis" EXACT [NCIT:C4606] +synonym: "benign tumour of Epiglottis" EXACT OMO:0003005 [] +synonym: "benign tumour of the Epiglottis" EXACT OMO:0003005 [] synonym: "epiglottis benign neoplasm" EXACT [MONDO:patterns/location] xref: NCIT:C4606 {source="MONDO:equivalentTo"} xref: SCTID:92089006 {source="MONDO:equivalentTo"} @@ -396823,8 +402135,11 @@ def: "A benign neoplasm that involves the testis." [MONDO:patterns/location] synonym: "benign neoplasm of the testis" EXACT [NCIT:C3612] synonym: "benign testicular neoplasm" EXACT [NCIT:C3612] synonym: "benign testicular tumor" EXACT [NCIT:C3612] +synonym: "benign testicular tumour" EXACT OMO:0003005 [] synonym: "benign tumor of testis" EXACT [NCIT:C3612] synonym: "benign tumor of the testis" EXACT [NCIT:C3612] +synonym: "benign tumour of testis" EXACT OMO:0003005 [] +synonym: "benign tumour of the testis" EXACT OMO:0003005 [] synonym: "testis benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD9:222.0 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3612 {source="MONDO:equivalentTo"} @@ -396841,13 +402156,20 @@ def: "A benign neoplasm that involves the stomach." [MONDO:patterns/location] synonym: "benign gastric neoplasm" EXACT [NCIT:C3599] synonym: "benign gastric tumor" EXACT [NCIT:C3599] synonym: "benign gastric tumors" EXACT [NCIT:C3599] +synonym: "benign gastric tumour" EXACT OMO:0003005 [] +synonym: "benign gastric tumours" EXACT OMO:0003005 [] synonym: "benign neoplasm of the stomach" EXACT [NCIT:C3599] synonym: "benign stomach neoplasms" EXACT [NCIT:C3599] synonym: "benign stomach tumors" EXACT [NCIT:C3599] +synonym: "benign stomach tumours" EXACT OMO:0003005 [] synonym: "benign tumor of stomach" EXACT [NCIT:C3599] synonym: "benign tumor of the stomach" EXACT [NCIT:C3599] synonym: "benign tumors of stomach" EXACT [NCIT:C3599] synonym: "benign tumors of the stomach" EXACT [NCIT:C3599] +synonym: "benign tumour of stomach" EXACT OMO:0003005 [] +synonym: "benign tumour of the stomach" EXACT OMO:0003005 [] +synonym: "benign tumours of stomach" EXACT OMO:0003005 [] +synonym: "benign tumours of the stomach" EXACT OMO:0003005 [] synonym: "gastric neoplasms, benign" EXACT [NCIT:C3599] synonym: "gastric tumors, benign" EXACT [NCIT:C3599] synonym: "stomach benign neoplasm" EXACT [MONDO:patterns/location] @@ -396869,11 +402191,15 @@ name: benign neoplasm of heart def: "A benign neoplasm that involves the heart." [MONDO:patterns/location] synonym: "benign Cardiac neoplasm" EXACT [NCIT:C3605] synonym: "benign Cardiac tumor" EXACT [NCIT:C3605] +synonym: "benign Cardiac tumour" EXACT OMO:0003005 [] synonym: "benign heart neoplasm" EXACT [NCIT:C3605] synonym: "benign heart tumor" EXACT [NCIT:C3605] +synonym: "benign heart tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the heart" EXACT [NCIT:C3605] synonym: "benign tumor of heart" EXACT [NCIT:C3605] synonym: "benign tumor of the heart" EXACT [NCIT:C3605] +synonym: "benign tumour of heart" EXACT OMO:0003005 [] +synonym: "benign tumour of the heart" EXACT OMO:0003005 [] synonym: "heart benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD10CM:D15.1 {source="MONDO:equivalentTo"} xref: ICD9:212.7 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -396891,9 +402217,12 @@ name: benign neoplasm of brain def: "A benign neoplasm that involves the brain." [MONDO:patterns/location] synonym: "benign brain neoplasm" EXACT [NCIT:C4781] synonym: "benign brain tumor" EXACT [NCIT:C4781] +synonym: "benign brain tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the brain" EXACT [NCIT:C4781] synonym: "benign tumor of brain" EXACT [NCIT:C4781] synonym: "benign tumor of the brain" EXACT [NCIT:C4781] +synonym: "benign tumour of brain" EXACT OMO:0003005 [] +synonym: "benign tumour of the brain" EXACT OMO:0003005 [] synonym: "brain benign neoplasm" EXACT [MONDO:patterns/location] synonym: "brain neoplasms, benign" EXACT [NCIT:C4781] xref: EFO:1000107 {source="MONDO:equivalentTo"} @@ -396911,11 +402240,15 @@ name: benign neoplasm of cornea def: "A benign neoplasm that involves the cornea." [MONDO:patterns/location] synonym: "benign cornea neoplasm" EXACT [NCIT:C3623] synonym: "benign cornea tumor" EXACT [NCIT:C3623] +synonym: "benign cornea tumour" EXACT OMO:0003005 [] synonym: "benign corneal neoplasm" EXACT [NCIT:C3623] synonym: "benign corneal tumor" EXACT [NCIT:C3623] +synonym: "benign corneal tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the cornea" EXACT [NCIT:C3623] synonym: "benign tumor of cornea" EXACT [NCIT:C3623] synonym: "benign tumor of the cornea" EXACT [NCIT:C3623] +synonym: "benign tumour of cornea" EXACT OMO:0003005 [] +synonym: "benign tumour of the cornea" EXACT OMO:0003005 [] synonym: "cornea benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD9:224.4 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3623 {source="MONDO:equivalentTo"} @@ -396933,10 +402266,14 @@ def: "A benign neoplasm that involves the retina." [MONDO:patterns/location] synonym: "benign neoplasm of the retina" EXACT [NCIT:C3624] synonym: "benign retina neoplasm" EXACT [NCIT:C3624] synonym: "benign retina tumor" EXACT [NCIT:C3624] +synonym: "benign retina tumour" EXACT OMO:0003005 [] synonym: "benign retinal neoplasm" EXACT [NCIT:C3624] synonym: "benign retinal tumor" EXACT [NCIT:C3624] +synonym: "benign retinal tumour" EXACT OMO:0003005 [] synonym: "benign tumor of retina" EXACT [NCIT:C3624] synonym: "benign tumor of the retina" EXACT [NCIT:C3624] +synonym: "benign tumour of retina" EXACT OMO:0003005 [] +synonym: "benign tumour of the retina" EXACT OMO:0003005 [] synonym: "retina benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD9:224.5 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3624 {source="MONDO:equivalentTo"} @@ -396953,11 +402290,15 @@ name: benign neoplasm of eye def: "A benign neoplasm that involves the eye." [MONDO:patterns/location] synonym: "benign eye neoplasm" EXACT [NCIT:C4780] synonym: "benign eye tumor" EXACT [NCIT:C4780] +synonym: "benign eye tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the eye" EXACT [NCIT:C4780] synonym: "benign ocular neoplasm" EXACT [NCIT:C4780] synonym: "benign ocular tumor" EXACT [NCIT:C4780] +synonym: "benign ocular tumour" EXACT OMO:0003005 [] synonym: "benign tumor of eye" EXACT [NCIT:C4780] synonym: "benign tumor of the eye" EXACT [NCIT:C4780] +synonym: "benign tumour of eye" EXACT OMO:0003005 [] +synonym: "benign tumour of the eye" EXACT OMO:0003005 [] synonym: "eye benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD9:224.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:224.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -396975,9 +402316,12 @@ name: benign neoplasm of neck def: "A benign neoplasm that involves the neck." [MONDO:patterns/location] synonym: "benign neck neoplasm" EXACT [NCIT:C4884] synonym: "benign neck tumor" EXACT [NCIT:C4884] +synonym: "benign neck tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the neck" EXACT [NCIT:C4884] synonym: "benign tumor of neck" EXACT [NCIT:C4884] synonym: "benign tumor of the neck" EXACT [NCIT:C4884] +synonym: "benign tumour of neck" EXACT OMO:0003005 [] +synonym: "benign tumour of the neck" EXACT OMO:0003005 [] synonym: "neck benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD9:229.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C4884 {source="MONDO:equivalentTo"} @@ -396994,8 +402338,11 @@ def: "A benign neoplasm that involves the sternum." [MONDO:patterns/location] synonym: "benign neoplasm of the sternum" EXACT [NCIT:C8416] synonym: "benign sternal neoplasm" EXACT [NCIT:C8416] synonym: "benign sternal tumor" EXACT [NCIT:C8416] +synonym: "benign sternal tumour" EXACT OMO:0003005 [] synonym: "benign tumor of sternum" EXACT [NCIT:C8416] synonym: "benign tumor of the sternum" EXACT [NCIT:C8416] +synonym: "benign tumour of sternum" EXACT OMO:0003005 [] +synonym: "benign tumour of the sternum" EXACT OMO:0003005 [] synonym: "sternum benign neoplasm" EXACT [MONDO:patterns/location] xref: NCIT:C8416 {source="MONDO:equivalentTo"} xref: SCTID:92410006 {source="MONDO:equivalentTo"} @@ -397012,8 +402359,11 @@ def: "A benign neoplasm that involves the pleura." [MONDO:patterns/location] synonym: "benign neoplasm of the pleura" EXACT [NCIT:C3603] synonym: "benign pleural neoplasm" EXACT [NCIT:C3603] synonym: "benign pleural tumor" EXACT [NCIT:C3603] +synonym: "benign pleural tumour" EXACT OMO:0003005 [] synonym: "benign tumor of pleura" EXACT [NCIT:C3603] synonym: "benign tumor of the pleura" EXACT [NCIT:C3603] +synonym: "benign tumour of pleura" EXACT OMO:0003005 [] +synonym: "benign tumour of the pleura" EXACT OMO:0003005 [] synonym: "pleura benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD9:212.4 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3603 {source="MONDO:equivalentTo"} @@ -397032,8 +402382,11 @@ def: "A benign neoplasm that involves the penis." [MONDO:patterns/location] synonym: "benign neoplasm of the penis" EXACT [NCIT:C3489] synonym: "benign penile neoplasm" EXACT [NCIT:C3489] synonym: "benign penile tumor" EXACT [NCIT:C3489] +synonym: "benign penile tumour" EXACT OMO:0003005 [] synonym: "benign tumor of penis" EXACT [NCIT:C3489] synonym: "benign tumor of the penis" EXACT [NCIT:C3489] +synonym: "benign tumour of penis" EXACT OMO:0003005 [] +synonym: "benign tumour of the penis" EXACT OMO:0003005 [] synonym: "penis benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD10CM:D29.0 {source="MONDO:equivalentTo"} xref: ICD9:222.1 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -397051,12 +402404,19 @@ name: benign neoplasm of esophagus def: "A benign neoplasm that involves the esophagus." [MONDO:patterns/location] synonym: "benign esophageal neoplasm" EXACT [NCIT:C3598] synonym: "benign esophageal tumor" EXACT [NCIT:C3598] +synonym: "benign esophageal tumour" EXACT OMO:0003005 [] synonym: "benign esophagus neoplasm" EXACT [NCIT:C3598] synonym: "benign esophagus tumor" EXACT [NCIT:C3598] synonym: "benign neoplasm of the esophagus" EXACT [NCIT:C3598] +synonym: "benign neoplasm of the oesophagus" EXACT OMO:0003005 [] +synonym: "benign oesophagus neoplasm" EXACT OMO:0003005 [] +synonym: "benign oesophagus tumour" EXACT OMO:0003005 [] synonym: "benign tumor of esophagus" EXACT [NCIT:C3598] synonym: "benign tumor of the esophagus" EXACT [NCIT:C3598] +synonym: "benign tumour of oesophagus" EXACT OMO:0003005 [] +synonym: "benign tumour of the oesophagus" EXACT OMO:0003005 [] synonym: "esophagus benign neoplasm" EXACT [MONDO:patterns/location] +synonym: "oesophagus benign neoplasm" EXACT OMO:0003005 [] xref: ICD10CM:D13.0 {source="MONDO:equivalentTo"} xref: ICD9:211.0 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3598 {source="MONDO:equivalentTo"} @@ -397074,8 +402434,11 @@ def: "A benign neoplasm that involves the saliva-secreting gland." [MONDO:patter synonym: "benign neoplasm of the salivary gland" EXACT [NCIT:C4600] synonym: "benign salivary gland neoplasm" EXACT [NCIT:C4600] synonym: "benign salivary gland tumor" EXACT [NCIT:C4600] +synonym: "benign salivary gland tumour" EXACT OMO:0003005 [] synonym: "benign tumor of salivary gland" EXACT [NCIT:C4600] synonym: "benign tumor of the salivary gland" EXACT [NCIT:C4600] +synonym: "benign tumour of salivary gland" EXACT OMO:0003005 [] +synonym: "benign tumour of the salivary gland" EXACT OMO:0003005 [] synonym: "saliva-secreting gland benign neoplasm" EXACT [MONDO:patterns/location] synonym: "salivary gland neoplasm, benign" EXACT [NCIT:C4600] xref: NCIT:C4600 {source="MONDO:equivalentTo"} @@ -397091,9 +402454,12 @@ name: benign neoplasm of hypopharynx def: "A benign neoplasm that involves the hypopharynx." [MONDO:patterns/location] synonym: "benign hypopharyngeal neoplasm" EXACT [NCIT:C3596] synonym: "benign hypopharyngeal tumor" EXACT [NCIT:C3596] +synonym: "benign hypopharyngeal tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the hypopharynx" EXACT [NCIT:C3596] synonym: "benign tumor of hypopharynx" EXACT [NCIT:C3596] synonym: "benign tumor of the hypopharynx" EXACT [NCIT:C3596] +synonym: "benign tumour of hypopharynx" EXACT OMO:0003005 [] +synonym: "benign tumour of the hypopharynx" EXACT OMO:0003005 [] synonym: "hypopharyngeal neoplasm, benign" EXACT [NCIT:C3596] synonym: "hypopharynx benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD10CM:D10.7 {source="MONDO:equivalentTo"} @@ -397116,8 +402482,12 @@ synonym: "benign rectal neoplasm" EXACT [NCIT:C4774] synonym: "benign rectal neoplasms" EXACT [NCIT:C4774] synonym: "benign rectal tumor" EXACT [NCIT:C4774] synonym: "benign rectal tumors" EXACT [NCIT:C4774] +synonym: "benign rectal tumour" EXACT OMO:0003005 [] +synonym: "benign rectal tumours" EXACT OMO:0003005 [] synonym: "benign tumor of rectum" EXACT [NCIT:C4774] synonym: "benign tumor of the rectum" EXACT [NCIT:C4774] +synonym: "benign tumour of rectum" EXACT OMO:0003005 [] +synonym: "benign tumour of the rectum" EXACT OMO:0003005 [] synonym: "rectal neoplasms, benign" EXACT [NCIT:C4774] synonym: "rectal tumors, benign" EXACT [NCIT:C4774] synonym: "rectum benign neoplasm" EXACT [MONDO:patterns/location] @@ -397139,14 +402509,21 @@ synonym: "benign neoplasm of the parathyroid" EXACT [NCIT:C3630] synonym: "benign neoplasm of the parathyroid gland" EXACT [NCIT:C3630] synonym: "benign parathyroid gland neoplasm" EXACT [NCIT:C3630] synonym: "benign parathyroid gland tumor" EXACT [NCIT:C3630] +synonym: "benign parathyroid gland tumour" EXACT OMO:0003005 [] synonym: "benign parathyroid neoplasm" EXACT [NCIT:C3630] synonym: "benign parathyroid tumor" EXACT [NCIT:C3630] +synonym: "benign parathyroid tumour" EXACT OMO:0003005 [] synonym: "benign tumor of parathyroid" EXACT [NCIT:C3630] synonym: "benign tumor of parathyroid gland" EXACT [NCIT:C3630] synonym: "benign tumor of the parathyroid" EXACT [NCIT:C3630] synonym: "benign tumor of the parathyroid gland" EXACT [NCIT:C3630] +synonym: "benign tumour of parathyroid" EXACT OMO:0003005 [] +synonym: "benign tumour of parathyroid gland" EXACT OMO:0003005 [] +synonym: "benign tumour of the parathyroid" EXACT OMO:0003005 [] +synonym: "benign tumour of the parathyroid gland" EXACT OMO:0003005 [] synonym: "parathyroid gland benign neoplasm" EXACT [MONDO:patterns/location] synonym: "parathyroid tumor benign" EXACT [NCIT:C3630] +synonym: "parathyroid tumour benign" EXACT OMO:0003005 [] xref: DOID:60008 {source="MONDO:equivalentTo"} xref: ICD10CM:D35.1 {source="MONDO:equivalentTo"} xref: ICD9:227.1 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -397164,9 +402541,12 @@ name: benign neoplasm of cecum def: "A benign neoplasm that involves the caecum." [MONDO:patterns/location] synonym: "benign cecum neoplasm" EXACT [NCIT:C4772] synonym: "benign cecum tumor" EXACT [NCIT:C4772] +synonym: "benign cecum tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the cecum" EXACT [NCIT:C4772] synonym: "benign tumor of cecum" EXACT [NCIT:C4772] synonym: "benign tumor of the cecum" EXACT [NCIT:C4772] +synonym: "benign tumour of cecum" EXACT OMO:0003005 [] +synonym: "benign tumour of the cecum" EXACT OMO:0003005 [] synonym: "caecum benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD10CM:D12.0 {source="MONDO:equivalentTo"} xref: NCIT:C4772 {source="MONDO:equivalentTo"} @@ -397183,9 +402563,12 @@ name: benign neoplasm of appendix def: "A benign neoplasm that involves the vermiform appendix." [MONDO:patterns/location] synonym: "benign appendix neoplasm" EXACT [NCIT:C4773] synonym: "benign appendix tumor" EXACT [NCIT:C4773] +synonym: "benign appendix tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the appendix" EXACT [NCIT:C4773] synonym: "benign tumor of appendix" EXACT [NCIT:C4773] synonym: "benign tumor of the appendix" EXACT [NCIT:C4773] +synonym: "benign tumour of appendix" EXACT OMO:0003005 [] +synonym: "benign tumour of the appendix" EXACT OMO:0003005 [] synonym: "vermiform appendix benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD10CM:D12.1 {source="MONDO:equivalentTo"} xref: NCIT:C4773 {source="MONDO:equivalentTo"} @@ -397203,8 +402586,11 @@ synonym: "benign kidney pelvis neoplasm" EXACT [NCIT:C3616] synonym: "benign neoplasm of the renal pelvis" EXACT [NCIT:C3616] synonym: "benign renal pelvis neoplasm" EXACT [NCIT:C3616] synonym: "benign renal pelvis tumor" EXACT [NCIT:C3616] +synonym: "benign renal pelvis tumour" EXACT OMO:0003005 [] synonym: "benign tumor of renal pelvis" EXACT [NCIT:C3616] synonym: "benign tumor of the renal pelvis" EXACT [NCIT:C3616] +synonym: "benign tumour of renal pelvis" EXACT OMO:0003005 [] +synonym: "benign tumour of the renal pelvis" EXACT OMO:0003005 [] synonym: "renal pelvis benign neoplasm" EXACT [MONDO:patterns/location] xref: EFO:1000118 {source="MONDO:equivalentTo"} xref: ICD9:223.1 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -397223,9 +402609,12 @@ def: "A benign neoplasm that involves the adrenal medulla." [MONDO:patterns/loca synonym: "adrenal medulla benign neoplasm" EXACT [MONDO:patterns/location] synonym: "benign adrenal medulla neoplasm" EXACT [NCIT:C4895] synonym: "benign adrenal medulla tumor" EXACT [NCIT:C4895] +synonym: "benign adrenal medulla tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the adrenal medulla" EXACT [NCIT:C4895] synonym: "benign tumor of adrenal medulla" EXACT [NCIT:C4895] synonym: "benign tumor of the adrenal medulla" EXACT [NCIT:C4895] +synonym: "benign tumour of adrenal medulla" EXACT OMO:0003005 [] +synonym: "benign tumour of the adrenal medulla" EXACT OMO:0003005 [] xref: NCIT:C4895 {source="MONDO:equivalentTo"} xref: SCTID:91968002 {source="MONDO:equivalentTo"} xref: UMLS:C0686512 {source="MONDO:equivalentTo", source="NCIT:C4895"} @@ -397241,9 +402630,12 @@ def: "A benign neoplasm that involves the anus." [MONDO:patterns/location] synonym: "anus benign neoplasm" EXACT [MONDO:patterns/location] synonym: "benign anal neoplasm" EXACT [NCIT:C4611] synonym: "benign anal tumor" EXACT [NCIT:C4611] +synonym: "benign anal tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the anus" EXACT [NCIT:C4611] synonym: "benign tumor of anus" EXACT [NCIT:C4611] synonym: "benign tumor of the anus" EXACT [NCIT:C4611] +synonym: "benign tumour of anus" EXACT OMO:0003005 [] +synonym: "benign tumour of the anus" EXACT OMO:0003005 [] xref: NCIT:C4611 {source="MONDO:equivalentTo"} xref: SCTID:91978004 {source="MONDO:equivalentTo"} xref: UMLS:C0347276 {source="MONDO:equivalentTo", source="NCIT:C4611"} @@ -397258,11 +402650,15 @@ def: "A benign neoplasm that involves the pancreas." [MONDO:patterns/location] synonym: "benign neoplasm of the pancreas" EXACT [NCIT:C4612] synonym: "benign pancreas neoplasm" EXACT [NCIT:C4612] synonym: "benign pancreas tumor" EXACT [NCIT:C4612] +synonym: "benign pancreas tumour" EXACT OMO:0003005 [] synonym: "benign pancreatic neoplasm" EXACT [NCIT:C4612] synonym: "benign pancreatic neoplasm NOS" RELATED EXCLUDE [NCIT:C4612] synonym: "benign pancreatic tumor" EXACT [NCIT:C4612] +synonym: "benign pancreatic tumour" EXACT OMO:0003005 [] synonym: "benign tumor of pancreas" EXACT [NCIT:C4612] synonym: "benign tumor of the pancreas" EXACT [NCIT:C4612] +synonym: "benign tumour of pancreas" EXACT OMO:0003005 [] +synonym: "benign tumour of the pancreas" EXACT OMO:0003005 [] synonym: "pancreas benign neoplasm" EXACT [MONDO:patterns/location] synonym: "pancreas neoplasm, benign" EXACT [NCIT:C4612] synonym: "pancreas tumor, benign" EXACT [NCIT:C4612] @@ -397282,11 +402678,15 @@ name: benign neoplasm of endometrium def: "A benign neoplasm that involves the endometrium." [MONDO:patterns/location] synonym: "benign endometrial neoplasm" EXACT [NCIT:C4894] synonym: "benign endometrial tumor" EXACT [NCIT:C4894] +synonym: "benign endometrial tumour" EXACT OMO:0003005 [] synonym: "benign endometrium neoplasm" EXACT [NCIT:C4894] synonym: "benign endometrium tumor" EXACT [NCIT:C4894] +synonym: "benign endometrium tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the endometrium" EXACT [NCIT:C4894] synonym: "benign tumor of endometrium" EXACT [NCIT:C4894] synonym: "benign tumor of the endometrium" EXACT [NCIT:C4894] +synonym: "benign tumour of endometrium" EXACT OMO:0003005 [] +synonym: "benign tumour of the endometrium" EXACT OMO:0003005 [] synonym: "endometrium benign neoplasm" EXACT [MONDO:patterns/location] xref: NCIT:C4894 {source="MONDO:equivalentTo"} xref: SCTID:92086004 {source="MONDO:equivalentTo"} @@ -397304,8 +402704,11 @@ def: "A benign neoplasm that involves the scrotum." [MONDO:patterns/location] synonym: "benign neoplasm of the scrotum" EXACT [NCIT:C3615] synonym: "benign scrotal neoplasm" EXACT [NCIT:C3615] synonym: "benign scrotal tumor" EXACT [NCIT:C3615] +synonym: "benign scrotal tumour" EXACT OMO:0003005 [] synonym: "benign tumor of scrotum" EXACT [NCIT:C3615] synonym: "benign tumor of the scrotum" EXACT [NCIT:C3615] +synonym: "benign tumour of scrotum" EXACT OMO:0003005 [] +synonym: "benign tumour of the scrotum" EXACT OMO:0003005 [] synonym: "scrotum benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD10CM:D29.4 {source="MONDO:equivalentTo"} xref: ICD9:222.4 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -397322,9 +402725,12 @@ name: benign neoplasm of epididymis def: "A benign neoplasm that involves the epididymis." [MONDO:patterns/location] synonym: "benign epididymal neoplasm" EXACT [NCIT:C3614] synonym: "benign epididymal tumor" EXACT [NCIT:C3614] +synonym: "benign epididymal tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the epididymis" EXACT [NCIT:C3614] synonym: "benign tumor of epididymis" EXACT [NCIT:C3614] synonym: "benign tumor of the epididymis" EXACT [NCIT:C3614] +synonym: "benign tumour of epididymis" EXACT OMO:0003005 [] +synonym: "benign tumour of the epididymis" EXACT OMO:0003005 [] synonym: "epididymis benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD9:222.3 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3614 {source="MONDO:equivalentTo"} @@ -397341,9 +402747,12 @@ def: "A benign neoplasm that involves the ear." [MONDO:patterns/location] synonym: "aural neoplasms, benign" EXACT [NCIT:C8417] synonym: "benign Ear neoplasm" EXACT [NCIT:C8417] synonym: "benign Ear tumor" EXACT [NCIT:C8417] +synonym: "benign Ear tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the Ear" EXACT [NCIT:C8417] synonym: "benign tumor of Ear" EXACT [NCIT:C8417] synonym: "benign tumor of the Ear" EXACT [NCIT:C8417] +synonym: "benign tumour of Ear" EXACT OMO:0003005 [] +synonym: "benign tumour of the Ear" EXACT OMO:0003005 [] synonym: "ear benign neoplasm" EXACT [MONDO:patterns/location] xref: NCIT:C8417 {source="MONDO:equivalentTo"} xref: SCTID:255181009 {source="MONDO:equivalentTo"} @@ -397358,9 +402767,12 @@ name: benign neoplasm of nasal cavity def: "A benign neoplasm that involves the nasal cavity." [MONDO:patterns/location] synonym: "benign nasal cavity neoplasm" EXACT [NCIT:C4603] synonym: "benign nasal cavity tumor" EXACT [NCIT:C4603] +synonym: "benign nasal cavity tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the nasal cavity" EXACT [NCIT:C4603] synonym: "benign tumor of nasal cavity" EXACT [NCIT:C4603] synonym: "benign tumor of the nasal cavity" EXACT [NCIT:C4603] +synonym: "benign tumour of nasal cavity" EXACT OMO:0003005 [] +synonym: "benign tumour of the nasal cavity" EXACT OMO:0003005 [] synonym: "nasal cavity benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD9:212.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C4603 {source="MONDO:equivalentTo"} @@ -397378,8 +402790,11 @@ def: "A benign neoplasm that involves the tongue." [MONDO:patterns/location] synonym: "benign neoplasm of the tongue" EXACT [NCIT:C3592] synonym: "benign tongue neoplasm" EXACT [NCIT:C3592] synonym: "benign tongue tumor" EXACT [NCIT:C3592] +synonym: "benign tongue tumour" EXACT OMO:0003005 [] synonym: "benign tumor of the tongue" EXACT [NCIT:C3592] synonym: "benign tumor of tongue" EXACT [NCIT:C3592] +synonym: "benign tumour of the tongue" EXACT OMO:0003005 [] +synonym: "benign tumour of tongue" EXACT OMO:0003005 [] synonym: "tongue benign neoplasm" EXACT [MONDO:patterns/location] synonym: "tongue neoplasm, benign" EXACT [NCIT:C3592] xref: ICD10CM:D10.1 {source="MONDO:equivalentTo"} @@ -397400,12 +402815,18 @@ synonym: "benign neoplasm of the sphenoid sinus" EXACT [NCIT:C4422] synonym: "benign neoplasm of the sphenoidal sinus" EXACT [NCIT:C4422] synonym: "benign sphenoid sinus neoplasm" EXACT [NCIT:C4422] synonym: "benign sphenoid sinus tumor" EXACT [NCIT:C4422] +synonym: "benign sphenoid sinus tumour" EXACT OMO:0003005 [] synonym: "benign sphenoidal sinus neoplasm" EXACT [NCIT:C4422] synonym: "benign sphenoidal sinus tumor" EXACT [NCIT:C4422] +synonym: "benign sphenoidal sinus tumour" EXACT OMO:0003005 [] synonym: "benign tumor of sphenoid sinus" EXACT [NCIT:C4422] synonym: "benign tumor of sphenoidal sinus" EXACT [NCIT:C4422] synonym: "benign tumor of the sphenoid sinus" EXACT [NCIT:C4422] synonym: "benign tumor of the sphenoidal sinus" EXACT [NCIT:C4422] +synonym: "benign tumour of sphenoid sinus" EXACT OMO:0003005 [] +synonym: "benign tumour of sphenoidal sinus" EXACT OMO:0003005 [] +synonym: "benign tumour of the sphenoid sinus" EXACT OMO:0003005 [] +synonym: "benign tumour of the sphenoidal sinus" EXACT OMO:0003005 [] synonym: "sphenoidal sinus benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD9:212.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C4422 {source="MONDO:equivalentTo"} @@ -397422,9 +402843,12 @@ name: benign neoplasm of nasopharynx def: "A benign neoplasm that involves the nasopharynx." [MONDO:patterns/location] synonym: "benign nasopharyngeal neoplasm" EXACT [NCIT:C3595] synonym: "benign nasopharyngeal tumor" EXACT [NCIT:C3595] +synonym: "benign nasopharyngeal tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the nasopharynx" EXACT [NCIT:C3595] synonym: "benign tumor of nasopharynx" EXACT [NCIT:C3595] synonym: "benign tumor of the nasopharynx" EXACT [NCIT:C3595] +synonym: "benign tumour of nasopharynx" EXACT OMO:0003005 [] +synonym: "benign tumour of the nasopharynx" EXACT OMO:0003005 [] synonym: "nasopharyngeal neoplasm, benign" EXACT [NCIT:C3595] synonym: "nasopharynx benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD10CM:D10.6 {source="MONDO:equivalentTo"} @@ -397445,8 +402869,11 @@ def: "A benign neoplasm that involves the oropharynx." [MONDO:patterns/location] synonym: "benign neoplasm of the oropharynx" EXACT [NCIT:C4604] synonym: "benign oropharyngeal neoplasm" EXACT [NCIT:C4604] synonym: "benign oropharyngeal tumor" EXACT [NCIT:C4604] +synonym: "benign oropharyngeal tumour" EXACT OMO:0003005 [] synonym: "benign tumor of oropharynx" EXACT [NCIT:C4604] synonym: "benign tumor of the oropharynx" EXACT [NCIT:C4604] +synonym: "benign tumour of oropharynx" EXACT OMO:0003005 [] +synonym: "benign tumour of the oropharynx" EXACT OMO:0003005 [] synonym: "oropharyngeal neoplasm benign" EXACT [NCIT:C4604] synonym: "oropharynx benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD9:210.6 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -397467,8 +402894,11 @@ def: "A benign neoplasm that involves the soft palate." [MONDO:patterns/location synonym: "benign neoplasm of the soft palate" EXACT [NCIT:C4404] synonym: "benign soft palate neoplasm" EXACT [NCIT:C4404] synonym: "benign soft palate tumor" EXACT [NCIT:C4404] +synonym: "benign soft palate tumour" EXACT OMO:0003005 [] synonym: "benign tumor of soft palate" EXACT [NCIT:C4404] synonym: "benign tumor of the soft palate" EXACT [NCIT:C4404] +synonym: "benign tumour of soft palate" EXACT OMO:0003005 [] +synonym: "benign tumour of the soft palate" EXACT OMO:0003005 [] synonym: "soft palate benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD9:210.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C4404 {source="MONDO:equivalentTo"} @@ -397486,8 +402916,11 @@ def: "A benign neoplasm that involves the submandibular gland." [MONDO:patterns/ synonym: "benign neoplasm of the submandibular gland" EXACT [NCIT:C4891] synonym: "benign submandibular gland neoplasm" EXACT [NCIT:C4891] synonym: "benign submandibular gland tumor" EXACT [NCIT:C4891] +synonym: "benign submandibular gland tumour" EXACT OMO:0003005 [] synonym: "benign tumor of submandibular gland" EXACT [NCIT:C4891] synonym: "benign tumor of the submandibular gland" EXACT [NCIT:C4891] +synonym: "benign tumour of submandibular gland" EXACT OMO:0003005 [] +synonym: "benign tumour of the submandibular gland" EXACT OMO:0003005 [] synonym: "submandibular gland benign neoplasm" EXACT [MONDO:patterns/location] xref: NCIT:C4891 {source="MONDO:equivalentTo"} xref: SCTID:92415001 {source="MONDO:equivalentTo"} @@ -397503,9 +402936,12 @@ name: benign neoplasm of middle ear def: "A benign neoplasm that involves the middle ear." [MONDO:patterns/location] synonym: "benign middle Ear neoplasm" EXACT [NCIT:C4602] synonym: "benign middle Ear tumor" EXACT [NCIT:C4602] +synonym: "benign middle Ear tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the middle Ear" EXACT [NCIT:C4602] synonym: "benign tumor of middle Ear" EXACT [NCIT:C4602] synonym: "benign tumor of the middle Ear" EXACT [NCIT:C4602] +synonym: "benign tumour of middle Ear" EXACT OMO:0003005 [] +synonym: "benign tumour of the middle Ear" EXACT OMO:0003005 [] synonym: "middle ear benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD9:212.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C4602 {source="MONDO:equivalentTo"} @@ -397522,9 +402958,12 @@ name: benign neoplasm of frontal sinus def: "A benign neoplasm that involves the frontal sinus." [MONDO:patterns/location] synonym: "benign frontal sinus neoplasm" EXACT [NCIT:C4420] synonym: "benign frontal sinus tumor" EXACT [NCIT:C4420] +synonym: "benign frontal sinus tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the frontal sinus" EXACT [NCIT:C4420] synonym: "benign tumor of frontal sinus" EXACT [NCIT:C4420] synonym: "benign tumor of the frontal sinus" EXACT [NCIT:C4420] +synonym: "benign tumour of frontal sinus" EXACT OMO:0003005 [] +synonym: "benign tumour of the frontal sinus" EXACT OMO:0003005 [] synonym: "frontal sinus benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD9:212.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C4420 {source="MONDO:equivalentTo"} @@ -397541,10 +402980,13 @@ name: benign neoplasm of maxillary sinus def: "A benign neoplasm that involves the maxillary sinus." [MONDO:patterns/location] synonym: "benign maxillary antrum neoplasm" EXACT [NCIT:C4414] synonym: "benign maxillary antrum tumor" EXACT [NCIT:C4414] +synonym: "benign maxillary antrum tumour" EXACT OMO:0003005 [] synonym: "benign maxillary sinus neoplasm" EXACT [NCIT:C4414] synonym: "benign maxillary sinus tumor" EXACT [NCIT:C4414] +synonym: "benign maxillary sinus tumour" EXACT OMO:0003005 [] synonym: "benign maxillofacial sinus neoplasm" EXACT [NCIT:C4414] synonym: "benign maxillofacial sinus tumor" EXACT [NCIT:C4414] +synonym: "benign maxillofacial sinus tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of maxillary antrum" EXACT [NCIT:C4414] synonym: "benign neoplasm of maxillofacial sinus" EXACT [NCIT:C4414] synonym: "benign neoplasm of the maxillary antrum" EXACT [NCIT:C4414] @@ -397556,6 +402998,12 @@ synonym: "benign tumor of maxillofacial sinus" EXACT [NCIT:C4414] synonym: "benign tumor of the maxillary antrum" EXACT [NCIT:C4414] synonym: "benign tumor of the maxillary sinus" EXACT [NCIT:C4414] synonym: "benign tumor of the maxillofacial sinus" EXACT [NCIT:C4414] +synonym: "benign tumour of maxillary antrum" EXACT OMO:0003005 [] +synonym: "benign tumour of maxillary sinus" EXACT OMO:0003005 [] +synonym: "benign tumour of maxillofacial sinus" EXACT OMO:0003005 [] +synonym: "benign tumour of the maxillary antrum" EXACT OMO:0003005 [] +synonym: "benign tumour of the maxillary sinus" EXACT OMO:0003005 [] +synonym: "benign tumour of the maxillofacial sinus" EXACT OMO:0003005 [] synonym: "maxillary sinus benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD9:212.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C4414 {source="MONDO:equivalentTo"} @@ -397572,9 +403020,12 @@ name: benign neoplasm of iris def: "A benign neoplasm that involves the iris." [MONDO:patterns/location] synonym: "benign iris neoplasm" EXACT [NCIT:C4555] synonym: "benign iris tumor" EXACT [NCIT:C4555] +synonym: "benign iris tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the iris" EXACT [NCIT:C4555] synonym: "benign tumor of iris" EXACT [NCIT:C4555] synonym: "benign tumor of the iris" EXACT [NCIT:C4555] +synonym: "benign tumour of iris" EXACT OMO:0003005 [] +synonym: "benign tumour of the iris" EXACT OMO:0003005 [] synonym: "iris benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD9:224.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C4555 {source="MONDO:equivalentTo"} @@ -397591,9 +403042,12 @@ name: benign neoplasm of ciliary body def: "A benign neoplasm that involves the ciliary body." [MONDO:patterns/location] synonym: "benign ciliary body neoplasm" EXACT [NCIT:C4779] synonym: "benign ciliary body tumor" EXACT [NCIT:C4779] +synonym: "benign ciliary body tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the ciliary body" EXACT [NCIT:C4779] synonym: "benign tumor of ciliary body" EXACT [NCIT:C4779] synonym: "benign tumor of the ciliary body" EXACT [NCIT:C4779] +synonym: "benign tumour of ciliary body" EXACT OMO:0003005 [] +synonym: "benign tumour of the ciliary body" EXACT OMO:0003005 [] synonym: "ciliary body benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD9:224.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C4779 {source="MONDO:equivalentTo"} @@ -397609,9 +403063,12 @@ name: benign neoplasm of choroid def: "A benign neoplasm that involves the optic choroid." [MONDO:patterns/location] synonym: "benign choroid neoplasm" EXACT [NCIT:C3625] synonym: "benign choroid tumor" EXACT [NCIT:C3625] +synonym: "benign choroid tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the choroid" EXACT [NCIT:C3625] synonym: "benign tumor of choroid" EXACT [NCIT:C3625] synonym: "benign tumor of the choroid" EXACT [NCIT:C3625] +synonym: "benign tumour of choroid" EXACT OMO:0003005 [] +synonym: "benign tumour of the choroid" EXACT OMO:0003005 [] synonym: "optic choroid benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD9:224.6 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3625 {source="MONDO:equivalentTo"} @@ -397628,9 +403085,12 @@ name: benign neoplasm of lacrimal gland def: "A benign neoplasm that involves the lacrimal gland." [MONDO:patterns/location] synonym: "benign lacrimal gland neoplasm" EXACT [NCIT:C3621] synonym: "benign lacrimal gland tumor" EXACT [NCIT:C3621] +synonym: "benign lacrimal gland tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the lacrimal gland" EXACT [NCIT:C3621] synonym: "benign tumor of lacrimal gland" EXACT [NCIT:C3621] synonym: "benign tumor of the lacrimal gland" EXACT [NCIT:C3621] +synonym: "benign tumour of lacrimal gland" EXACT OMO:0003005 [] +synonym: "benign tumour of the lacrimal gland" EXACT OMO:0003005 [] synonym: "lacrimal gland benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD9:224.2 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3621 {source="MONDO:equivalentTo"} @@ -397648,8 +403108,11 @@ def: "A benign neoplasm that involves the sweat gland." [MONDO:patterns/location synonym: "benign neoplasm of the sweat gland" EXACT [NCIT:C4879] synonym: "benign sweat gland neoplasm" EXACT [NCIT:C4879] synonym: "benign sweat gland tumor" EXACT [NCIT:C4879] +synonym: "benign sweat gland tumour" EXACT OMO:0003005 [] synonym: "benign tumor of sweat gland" EXACT [NCIT:C4879] synonym: "benign tumor of the sweat gland" EXACT [NCIT:C4879] +synonym: "benign tumour of sweat gland" EXACT OMO:0003005 [] +synonym: "benign tumour of the sweat gland" EXACT OMO:0003005 [] synonym: "sweat gland benign neoplasm" EXACT [MONDO:patterns/location] synonym: "sweat gland neoplasm, benign" EXACT [NCIT:C4879] xref: NCIT:C4879 {source="MONDO:equivalentTo"} @@ -397667,12 +403130,17 @@ def: "A benign neoplasm that involves the sebaceous gland." [MONDO:patterns/loca synonym: "benign neoplasm of the sebaceous gland" EXACT [NCIT:C8525] synonym: "benign sebaceous gland neoplasm" EXACT [NCIT:C8525] synonym: "benign sebaceous gland tumor" EXACT [NCIT:C8525] +synonym: "benign sebaceous gland tumour" EXACT OMO:0003005 [] synonym: "benign sebaceous neoplasm" EXACT [NCIT:C8525] synonym: "benign sebaceous skin neoplasm" EXACT [NCIT:C8525] synonym: "benign sebaceous skin tumor" EXACT [NCIT:C8525] +synonym: "benign sebaceous skin tumour" EXACT OMO:0003005 [] synonym: "benign sebaceous tumor" EXACT [NCIT:C8525] +synonym: "benign sebaceous tumour" EXACT OMO:0003005 [] synonym: "benign tumor of sebaceous gland" EXACT [NCIT:C8525] synonym: "benign tumor of the sebaceous gland" EXACT [NCIT:C8525] +synonym: "benign tumour of sebaceous gland" EXACT OMO:0003005 [] +synonym: "benign tumour of the sebaceous gland" EXACT OMO:0003005 [] synonym: "sebaceous gland benign neoplasm" EXACT [MONDO:patterns/location] xref: NCIT:C8525 {source="MONDO:equivalentTo"} xref: SCTID:92337009 {source="MONDO:equivalentTo"} @@ -397688,8 +403156,10 @@ name: benign neoplasm of gum def: "A benign neoplasm that involves the gingiva." [MONDO:patterns/location] synonym: "benign gingival neoplasm" EXACT [NCIT:C4598] synonym: "benign gingival tumor" EXACT [NCIT:C4598] +synonym: "benign gingival tumour" EXACT OMO:0003005 [] synonym: "benign gum neoplasm" EXACT [NCIT:C4598] synonym: "benign gum tumor" EXACT [NCIT:C4598] +synonym: "benign gum tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of gingiva" EXACT [NCIT:C4598] synonym: "benign neoplasm of the gingiva" EXACT [NCIT:C4598] synonym: "benign neoplasm of the gum" EXACT [NCIT:C4598] @@ -397697,6 +403167,10 @@ synonym: "benign tumor of gingiva" EXACT [NCIT:C4598] synonym: "benign tumor of gum" EXACT [NCIT:C4598] synonym: "benign tumor of the gingiva" EXACT [NCIT:C4598] synonym: "benign tumor of the gum" EXACT [NCIT:C4598] +synonym: "benign tumour of gingiva" EXACT OMO:0003005 [] +synonym: "benign tumour of gum" EXACT OMO:0003005 [] +synonym: "benign tumour of the gingiva" EXACT OMO:0003005 [] +synonym: "benign tumour of the gum" EXACT OMO:0003005 [] synonym: "gingiva benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD9:210.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C4598 {source="MONDO:equivalentTo"} @@ -397712,9 +403186,12 @@ name: benign neoplasm of major salivary gland def: "A benign neoplasm that involves the major salivary gland." [MONDO:patterns/location] synonym: "benign Major salivary gland neoplasm" EXACT [NCIT:C4771] synonym: "benign Major salivary gland tumor" EXACT [NCIT:C4771] +synonym: "benign Major salivary gland tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the Major salivary gland" EXACT [NCIT:C4771] synonym: "benign tumor of Major salivary gland" EXACT [NCIT:C4771] synonym: "benign tumor of the Major salivary gland" EXACT [NCIT:C4771] +synonym: "benign tumour of Major salivary gland" EXACT OMO:0003005 [] +synonym: "benign tumour of the Major salivary gland" EXACT OMO:0003005 [] synonym: "major salivary gland benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD9:210.2 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C4771 {source="MONDO:equivalentTo"} @@ -397731,9 +403208,12 @@ name: benign neoplasm of minor salivary gland def: "A benign neoplasm that involves the minor salivary gland." [MONDO:patterns/location] synonym: "benign minor salivary gland neoplasm" EXACT [NCIT:C4411] synonym: "benign minor salivary gland tumor" EXACT [NCIT:C4411] +synonym: "benign minor salivary gland tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the minor salivary gland" EXACT [NCIT:C4411] synonym: "benign tumor of minor salivary gland" EXACT [NCIT:C4411] synonym: "benign tumor of the minor salivary gland" EXACT [NCIT:C4411] +synonym: "benign tumour of minor salivary gland" EXACT OMO:0003005 [] +synonym: "benign tumour of the minor salivary gland" EXACT OMO:0003005 [] synonym: "minor salivary gland benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD9:210.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C4411 {source="MONDO:equivalentTo"} @@ -397753,12 +403233,18 @@ synonym: "benign neoplasm of the parotid" EXACT [NCIT:C4770] synonym: "benign neoplasm of the parotid gland" EXACT [NCIT:C4770] synonym: "benign parotid gland neoplasm" EXACT [NCIT:C4770] synonym: "benign parotid gland tumor" EXACT [NCIT:C4770] +synonym: "benign parotid gland tumour" EXACT OMO:0003005 [] synonym: "benign parotid neoplasm" EXACT [NCIT:C4770] synonym: "benign parotid tumor" EXACT [NCIT:C4770] +synonym: "benign parotid tumour" EXACT OMO:0003005 [] synonym: "benign tumor of parotid" EXACT [NCIT:C4770] synonym: "benign tumor of parotid gland" EXACT [NCIT:C4770] synonym: "benign tumor of the parotid" EXACT [NCIT:C4770] synonym: "benign tumor of the parotid gland" EXACT [NCIT:C4770] +synonym: "benign tumour of parotid" EXACT OMO:0003005 [] +synonym: "benign tumour of parotid gland" EXACT OMO:0003005 [] +synonym: "benign tumour of the parotid" EXACT OMO:0003005 [] +synonym: "benign tumour of the parotid gland" EXACT OMO:0003005 [] synonym: "parotid gland benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD10CM:D11.0 {source="MONDO:equivalentTo"} xref: NCIT:C4770 {source="MONDO:equivalentTo"} @@ -397776,8 +403262,11 @@ def: "A benign neoplasm that involves the sublingual gland." [MONDO:patterns/loc synonym: "benign neoplasm of the sublingual gland" EXACT [NCIT:C4601] synonym: "benign sublingual gland neoplasm" EXACT [NCIT:C4601] synonym: "benign sublingual gland tumor" EXACT [NCIT:C4601] +synonym: "benign sublingual gland tumour" EXACT OMO:0003005 [] synonym: "benign tumor of sublingual gland" EXACT [NCIT:C4601] synonym: "benign tumor of the sublingual gland" EXACT [NCIT:C4601] +synonym: "benign tumour of sublingual gland" EXACT OMO:0003005 [] +synonym: "benign tumour of the sublingual gland" EXACT OMO:0003005 [] synonym: "sublingual gland benign neoplasm" EXACT [MONDO:patterns/location] xref: NCIT:C4601 {source="MONDO:equivalentTo"} xref: SCTID:92413008 {source="MONDO:equivalentTo"} @@ -397793,9 +403282,12 @@ name: benign neoplasm of lip def: "A benign neoplasm that involves the lip." [MONDO:patterns/location] synonym: "benign Lip neoplasm" EXACT [NCIT:C3591] synonym: "benign Lip tumor" EXACT [NCIT:C3591] +synonym: "benign Lip tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the Lip" EXACT [NCIT:C3591] synonym: "benign tumor of Lip" EXACT [NCIT:C3591] synonym: "benign tumor of the Lip" EXACT [NCIT:C3591] +synonym: "benign tumour of Lip" EXACT OMO:0003005 [] +synonym: "benign tumour of the Lip" EXACT OMO:0003005 [] synonym: "lip benign neoplasm" EXACT [MONDO:patterns/location] synonym: "lip neoplasm, benign" EXACT [NCIT:C3591] xref: ICD10CM:D10.0 {source="MONDO:equivalentTo"} @@ -397813,8 +403305,10 @@ name: benign neoplasm of cerebrum def: "A benign neoplasm that involves the telencephalon." [MONDO:patterns/location] synonym: "benign cerebral hemispheric neoplasm" EXACT [NCIT:C8548] synonym: "benign cerebral hemispheric tumor" EXACT [NCIT:C8548] +synonym: "benign cerebral hemispheric tumour" EXACT OMO:0003005 [] synonym: "benign cerebral neoplasm" EXACT [NCIT:C8548] synonym: "benign cerebral tumor" EXACT [NCIT:C8548] +synonym: "benign cerebral tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of cerebral hemispheres" EXACT [NCIT:C8548] synonym: "benign neoplasm of the cerebral hemispheres" EXACT [NCIT:C8548] synonym: "benign neoplasm of the cerebrum" EXACT [NCIT:C8548] @@ -397822,6 +403316,10 @@ synonym: "benign tumor of cerebral hemispheres" EXACT [NCIT:C8548] synonym: "benign tumor of cerebrum" EXACT [NCIT:C8548] synonym: "benign tumor of the cerebral hemispheres" EXACT [NCIT:C8548] synonym: "benign tumor of the cerebrum" EXACT [NCIT:C8548] +synonym: "benign tumour of cerebral hemispheres" EXACT OMO:0003005 [] +synonym: "benign tumour of cerebrum" EXACT OMO:0003005 [] +synonym: "benign tumour of the cerebral hemispheres" EXACT OMO:0003005 [] +synonym: "benign tumour of the cerebrum" EXACT OMO:0003005 [] synonym: "telencephalon benign neoplasm" EXACT [MONDO:patterns/location] xref: NCIT:C8548 {source="MONDO:equivalentTo"} xref: SCTID:275269004 {source="MONDO:equivalentTo"} @@ -397838,10 +403336,14 @@ def: "A benign neoplasm that involves the placenta." [MONDO:patterns/location] synonym: "benign neoplasm of the placenta" EXACT [NCIT:C8545] synonym: "benign placenta neoplasm" EXACT [NCIT:C8545] synonym: "benign placenta tumor" EXACT [NCIT:C8545] +synonym: "benign placenta tumour" EXACT OMO:0003005 [] synonym: "benign placental neoplasm" EXACT [NCIT:C8545] synonym: "benign placental tumor" EXACT [NCIT:C8545] +synonym: "benign placental tumour" EXACT OMO:0003005 [] synonym: "benign tumor of placenta" EXACT [NCIT:C8545] synonym: "benign tumor of the placenta" EXACT [NCIT:C8545] +synonym: "benign tumour of placenta" EXACT OMO:0003005 [] +synonym: "benign tumour of the placenta" EXACT OMO:0003005 [] synonym: "placenta benign neoplasm" EXACT [MONDO:patterns/location] synonym: "placental neoplasms, benign" EXACT [NCIT:C8545] xref: ICD9:219.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -397859,9 +403361,12 @@ def: "A benign neoplasm that involves the cerebellum." [MONDO:patterns/location] synonym: "benign cerebellar neoplasm" EXACT [NCIT:C4955] synonym: "benign cerebellar neoplasms" EXACT [NCIT:C4955] synonym: "benign cerebellar tumor" EXACT [NCIT:C4955] +synonym: "benign cerebellar tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the cerebellum" EXACT [NCIT:C4955] synonym: "benign tumor of cerebellum" EXACT [NCIT:C4955] synonym: "benign tumor of the cerebellum" EXACT [NCIT:C4955] +synonym: "benign tumour of cerebellum" EXACT OMO:0003005 [] +synonym: "benign tumour of the cerebellum" EXACT OMO:0003005 [] synonym: "cerebellar neoplasms, benign" EXACT [NCIT:C4955] synonym: "cerebellum benign neoplasm" EXACT [MONDO:patterns/location] synonym: "neoplasms, benign, cerebellar" EXACT [NCIT:C4955] @@ -397896,10 +403401,14 @@ synonym: "benign neoplasm of the small intestine" EXACT [NCIT:C3600] synonym: "benign small intestinal neoplasm" EXACT [NCIT:C3600] synonym: "benign small intestinal neoplasm NOS" RELATED EXCLUDE [NCIT:C3600] synonym: "benign small intestinal tumor" EXACT [NCIT:C3600] +synonym: "benign small intestinal tumour" EXACT OMO:0003005 [] synonym: "benign small intestine neoplasm" EXACT [NCIT:C3600] synonym: "benign small intestine tumor" EXACT [NCIT:C3600] +synonym: "benign small intestine tumour" EXACT OMO:0003005 [] synonym: "benign tumor of small intestine" EXACT [NCIT:C3600] synonym: "benign tumor of the small intestine" EXACT [NCIT:C3600] +synonym: "benign tumour of small intestine" EXACT OMO:0003005 [] +synonym: "benign tumour of the small intestine" EXACT OMO:0003005 [] synonym: "small intestine benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD9:211.2 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3600 {source="MONDO:equivalentTo"} @@ -397916,12 +403425,16 @@ name: benign neoplasm of gallbladder def: "A benign neoplasm that involves the gall bladder." [MONDO:patterns/location] synonym: "benign gallbladder neoplasm" EXACT [NCIT:C4440] synonym: "benign gallbladder tumor" EXACT [NCIT:C4440] +synonym: "benign gallbladder tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the gallbladder" EXACT [NCIT:C4440] synonym: "benign tumor of gallbladder" EXACT [NCIT:C4440] synonym: "benign tumor of the gallbladder" EXACT [NCIT:C4440] +synonym: "benign tumour of gallbladder" EXACT OMO:0003005 [] +synonym: "benign tumour of the gallbladder" EXACT OMO:0003005 [] synonym: "gall bladder benign neoplasm" EXACT [MONDO:patterns/location] synonym: "gallbladder benign neoplasm" EXACT [NCIT:C4440] synonym: "gallbladder benign tumor" EXACT [NCIT:C4440] +synonym: "gallbladder benign tumour" EXACT OMO:0003005 [] xref: DOID:0080640 {source="MONDO:equivalentTo"} xref: NCIT:C4440 {source="MONDO:equivalentTo"} xref: SCTID:92117002 {source="MONDO:equivalentTo"} @@ -397937,9 +403450,12 @@ name: benign neoplasm of endocardium def: "A benign neoplasm that involves the endocardium." [MONDO:patterns/location] synonym: "benign endocardial neoplasm" EXACT [NCIT:C4608] synonym: "benign endocardial tumor" EXACT [NCIT:C4608] +synonym: "benign endocardial tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the endocardium" EXACT [NCIT:C4608] synonym: "benign tumor of endocardium" EXACT [NCIT:C4608] synonym: "benign tumor of the endocardium" EXACT [NCIT:C4608] +synonym: "benign tumour of endocardium" EXACT OMO:0003005 [] +synonym: "benign tumour of the endocardium" EXACT OMO:0003005 [] synonym: "endocardium benign neoplasm" EXACT [MONDO:patterns/location] xref: NCIT:C4608 {source="MONDO:equivalentTo"} xref: SCTID:92083007 {source="MONDO:equivalentTo"} @@ -397956,8 +403472,11 @@ def: "A benign neoplasm that involves the spinal cord." [MONDO:patterns/location synonym: "benign neoplasm of the spinal cord" EXACT [NCIT:C3627] synonym: "benign spinal cord neoplasm" EXACT [NCIT:C3627] synonym: "benign spinal cord tumor" EXACT [NCIT:C3627] +synonym: "benign spinal cord tumour" EXACT OMO:0003005 [] synonym: "benign tumor of spinal cord" EXACT [NCIT:C3627] synonym: "benign tumor of the spinal cord" EXACT [NCIT:C3627] +synonym: "benign tumour of spinal cord" EXACT OMO:0003005 [] +synonym: "benign tumour of the spinal cord" EXACT OMO:0003005 [] synonym: "spinal cord benign neoplasm" EXACT [MONDO:patterns/location] synonym: "spinal cord neoplasm, benign" EXACT [NCIT:C3627] xref: ICD10CM:D33.4 {source="MONDO:equivalentTo"} @@ -397976,10 +403495,13 @@ def: "A benign neoplasm that involves the brainstem." [MONDO:patterns/location] synonym: "benign brain stem neoplasm" EXACT [NCIT:C8549] synonym: "benign brain stem neoplasms" EXACT [NCIT:C8549] synonym: "benign brain stem tumor" EXACT [NCIT:C8549] +synonym: "benign brain stem tumour" EXACT OMO:0003005 [] synonym: "benign brainstem neoplasm" EXACT [NCIT:C8549] synonym: "benign brainstem neoplasms" EXACT [NCIT:C8549] synonym: "benign brainstem tumor" EXACT [NCIT:C8549] synonym: "benign brainstem tumors" EXACT [NCIT:C8549] +synonym: "benign brainstem tumour" EXACT OMO:0003005 [] +synonym: "benign brainstem tumours" EXACT OMO:0003005 [] synonym: "benign neoplasm of brainstem" EXACT [NCIT:C8549] synonym: "benign neoplasm of the brain stem" EXACT [NCIT:C8549] synonym: "benign neoplasm of the brainstem" EXACT [NCIT:C8549] @@ -397991,6 +403513,12 @@ synonym: "benign tumor of the brain stem" EXACT [NCIT:C8549] synonym: "benign tumor of the brainstem" EXACT [NCIT:C8549] synonym: "benign tumors of brainstem" EXACT [NCIT:C8549] synonym: "benign tumors of the brainstem" EXACT [NCIT:C8549] +synonym: "benign tumour of brain stem" EXACT OMO:0003005 [] +synonym: "benign tumour of brainstem" EXACT OMO:0003005 [] +synonym: "benign tumour of the brain stem" EXACT OMO:0003005 [] +synonym: "benign tumour of the brainstem" EXACT OMO:0003005 [] +synonym: "benign tumours of brainstem" EXACT OMO:0003005 [] +synonym: "benign tumours of the brainstem" EXACT OMO:0003005 [] synonym: "brainstem benign neoplasm" EXACT [MONDO:patterns/location] xref: NCIT:C8549 {source="MONDO:equivalentTo"} xref: SCTID:92029009 {source="MONDO:equivalentTo"} @@ -398006,9 +403534,12 @@ name: benign neoplasm of epicardium def: "A benign neoplasm that involves the epicardium." [MONDO:patterns/location] synonym: "benign epicardial neoplasm" EXACT [NCIT:C8535] synonym: "benign epicardial tumor" EXACT [NCIT:C8535] +synonym: "benign epicardial tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the epicardium" EXACT [NCIT:C8535] synonym: "benign tumor of epicardium" EXACT [NCIT:C8535] synonym: "benign tumor of the epicardium" EXACT [NCIT:C8535] +synonym: "benign tumour of epicardium" EXACT OMO:0003005 [] +synonym: "benign tumour of the epicardium" EXACT OMO:0003005 [] synonym: "epicardium benign neoplasm" EXACT [MONDO:patterns/location] xref: NCIT:C8535 {source="MONDO:equivalentTo"} xref: SCTID:92087008 {source="MONDO:equivalentTo"} @@ -398025,9 +403556,12 @@ name: benign neoplasm of myocardium def: "A benign neoplasm that involves the myocardium." [MONDO:patterns/location] synonym: "benign myocardial neoplasm" EXACT [NCIT:C4607] synonym: "benign myocardial tumor" EXACT [NCIT:C4607] +synonym: "benign myocardial tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the myocardium" EXACT [NCIT:C4607] synonym: "benign tumor of myocardium" EXACT [NCIT:C4607] synonym: "benign tumor of the myocardium" EXACT [NCIT:C4607] +synonym: "benign tumour of myocardium" EXACT OMO:0003005 [] +synonym: "benign tumour of the myocardium" EXACT OMO:0003005 [] synonym: "myocardium benign neoplasm" EXACT [MONDO:patterns/location] xref: NCIT:C4607 {source="MONDO:equivalentTo"} xref: SCTID:92238001 {source="MONDO:equivalentTo"} @@ -398044,9 +403578,12 @@ def: "A benign neoplasm that involves the prostate gland." [MONDO:patterns/locat synonym: "benign neoplasm of the prostate" EXACT [NCIT:C3613] synonym: "benign prostate neoplasm" EXACT [NCIT:C3613] synonym: "benign prostate tumor" EXACT [NCIT:C3613] +synonym: "benign prostate tumour" EXACT OMO:0003005 [] synonym: "benign prostatic neoplasm" EXACT [NCIT:C3613] synonym: "benign tumor of prostate" EXACT [NCIT:C3613] synonym: "benign tumor of the prostate" EXACT [NCIT:C3613] +synonym: "benign tumour of prostate" EXACT OMO:0003005 [] +synonym: "benign tumour of the prostate" EXACT OMO:0003005 [] synonym: "prostate gland benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD10CM:D29.1 {source="MONDO:equivalentTo"} xref: ICD9:222.2 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -398064,11 +403601,15 @@ def: "A benign neoplasm that involves the adrenal gland." [MONDO:patterns/locati synonym: "adrenal gland benign neoplasm" EXACT [MONDO:patterns/location] synonym: "benign adrenal gland neoplasm" EXACT [NCIT:C3629] synonym: "benign adrenal gland tumor" EXACT [NCIT:C3629] +synonym: "benign adrenal gland tumour" EXACT OMO:0003005 [] synonym: "benign adrenal neoplasm" EXACT [NCIT:C3629] synonym: "benign adrenal tumor" EXACT [NCIT:C3629] +synonym: "benign adrenal tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the adrenal gland" EXACT [NCIT:C3629] synonym: "benign tumor of adrenal gland" EXACT [NCIT:C3629] synonym: "benign tumor of the adrenal gland" EXACT [NCIT:C3629] +synonym: "benign tumour of adrenal gland" EXACT OMO:0003005 [] +synonym: "benign tumour of the adrenal gland" EXACT OMO:0003005 [] xref: ICD9:227.0 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3629 {source="MONDO:equivalentTo"} xref: SCTID:91967007 {source="MONDO:equivalentTo"} @@ -398085,10 +403626,14 @@ def: "A benign neoplasm that involves the thymus." [MONDO:patterns/location] synonym: "benign neoplasm of the Thymus" EXACT [NCIT:C4458] synonym: "benign thymic neoplasm" EXACT [NCIT:C4458] synonym: "benign thymic tumor" EXACT [NCIT:C4458] +synonym: "benign thymic tumour" EXACT OMO:0003005 [] synonym: "benign Thymus neoplasm" EXACT [NCIT:C4458] synonym: "benign Thymus tumor" EXACT [NCIT:C4458] +synonym: "benign Thymus tumour" EXACT OMO:0003005 [] synonym: "benign tumor of the Thymus" EXACT [NCIT:C4458] synonym: "benign tumor of Thymus" EXACT [NCIT:C4458] +synonym: "benign tumour of the Thymus" EXACT OMO:0003005 [] +synonym: "benign tumour of Thymus" EXACT OMO:0003005 [] synonym: "thymus benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD10CM:D15.0 {source="MONDO:equivalentTo"} xref: ICD9:212.6 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -398106,10 +403651,14 @@ def: "A benign neoplasm that involves the tonsil." [MONDO:patterns/location] synonym: "benign neoplasm of the tonsil" EXACT [NCIT:C3594] synonym: "benign tonsil neoplasm" EXACT [NCIT:C3594] synonym: "benign tonsil tumor" EXACT [NCIT:C3594] +synonym: "benign tonsil tumour" EXACT OMO:0003005 [] synonym: "benign tonsillar neoplasm" EXACT [NCIT:C3594] synonym: "benign tonsillar tumor" EXACT [NCIT:C3594] +synonym: "benign tonsillar tumour" EXACT OMO:0003005 [] synonym: "benign tumor of the tonsil" EXACT [NCIT:C3594] synonym: "benign tumor of tonsil" EXACT [NCIT:C3594] +synonym: "benign tumour of the tonsil" EXACT OMO:0003005 [] +synonym: "benign tumour of tonsil" EXACT OMO:0003005 [] synonym: "tonsil benign neoplasm" EXACT [MONDO:patterns/location] synonym: "tonsillar neoplasm, benign" EXACT [NCIT:C3594] xref: ICD10CM:D10.4 {source="MONDO:equivalentTo"} @@ -398130,8 +403679,11 @@ def: "A benign neoplasm that involves the pericardium." [MONDO:patterns/location synonym: "benign neoplasm of the pericardium" EXACT [NCIT:C8536] synonym: "benign pericardial neoplasm" EXACT [NCIT:C8536] synonym: "benign pericardial tumor" EXACT [NCIT:C8536] +synonym: "benign pericardial tumour" EXACT OMO:0003005 [] synonym: "benign tumor of pericardium" EXACT [NCIT:C8536] synonym: "benign tumor of the pericardium" EXACT [NCIT:C8536] +synonym: "benign tumour of pericardium" EXACT OMO:0003005 [] +synonym: "benign tumour of the pericardium" EXACT OMO:0003005 [] synonym: "pericardium benign neoplasm" EXACT [MONDO:patterns/location] xref: NCIT:C8536 {source="MONDO:equivalentTo"} xref: SCTID:92289001 {source="MONDO:equivalentTo"} @@ -398147,8 +403699,10 @@ name: benign neoplasm of ethmoidal sinus def: "A benign neoplasm that involves the ethmoid sinus." [MONDO:patterns/location] synonym: "benign ethmoid sinus neoplasm" EXACT [NCIT:C4417] synonym: "benign ethmoid sinus tumor" EXACT [NCIT:C4417] +synonym: "benign ethmoid sinus tumour" EXACT OMO:0003005 [] synonym: "benign ethmoidal sinus neoplasm" EXACT [NCIT:C4417] synonym: "benign ethmoidal sinus tumor" EXACT [NCIT:C4417] +synonym: "benign ethmoidal sinus tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of ethmoid sinus" EXACT [NCIT:C4417] synonym: "benign neoplasm of the ethmoid sinus" EXACT [NCIT:C4417] synonym: "benign neoplasm of the ethmoidal sinus" EXACT [NCIT:C4417] @@ -398156,6 +403710,10 @@ synonym: "benign tumor of ethmoid sinus" EXACT [NCIT:C4417] synonym: "benign tumor of ethmoidal sinus" EXACT [NCIT:C4417] synonym: "benign tumor of the ethmoid sinus" EXACT [NCIT:C4417] synonym: "benign tumor of the ethmoidal sinus" EXACT [NCIT:C4417] +synonym: "benign tumour of ethmoid sinus" EXACT OMO:0003005 [] +synonym: "benign tumour of ethmoidal sinus" EXACT OMO:0003005 [] +synonym: "benign tumour of the ethmoid sinus" EXACT OMO:0003005 [] +synonym: "benign tumour of the ethmoidal sinus" EXACT OMO:0003005 [] synonym: "ethmoid sinus benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD9:212.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C4417 {source="MONDO:equivalentTo"} @@ -398172,9 +403730,12 @@ name: benign neoplasm of glottis def: "A benign neoplasm that involves the glottis." [MONDO:patterns/location] synonym: "benign glottis neoplasm" EXACT [NCIT:C4605] synonym: "benign glottis tumor" EXACT [NCIT:C4605] +synonym: "benign glottis tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the glottis" EXACT [NCIT:C4605] synonym: "benign tumor of glottis" EXACT [NCIT:C4605] synonym: "benign tumor of the glottis" EXACT [NCIT:C4605] +synonym: "benign tumour of glottis" EXACT OMO:0003005 [] +synonym: "benign tumour of the glottis" EXACT OMO:0003005 [] synonym: "glottis benign neoplasm" EXACT [MONDO:patterns/location] xref: NCIT:C4605 {source="MONDO:equivalentTo"} xref: SCTID:92123007 {source="MONDO:equivalentTo"} @@ -398191,10 +403752,14 @@ def: "A benign neoplasm that involves the trachea." [MONDO:patterns/location] synonym: "benign neoplasm of the trachea" EXACT [NCIT:C3602] synonym: "benign trachea neoplasm" EXACT [NCIT:C3602] synonym: "benign trachea tumor" EXACT [NCIT:C3602] +synonym: "benign trachea tumour" EXACT OMO:0003005 [] synonym: "benign tracheal neoplasm" EXACT [NCIT:C3602] synonym: "benign tracheal tumor" EXACT [NCIT:C3602] +synonym: "benign tracheal tumour" EXACT OMO:0003005 [] synonym: "benign tumor of the trachea" EXACT [NCIT:C3602] synonym: "benign tumor of trachea" EXACT [NCIT:C3602] +synonym: "benign tumour of the trachea" EXACT OMO:0003005 [] +synonym: "benign tumour of trachea" EXACT OMO:0003005 [] synonym: "trachea benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD10CM:D14.2 {source="MONDO:equivalentTo"} xref: ICD9:212.2 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -398212,9 +403777,12 @@ name: benign neoplasm of hard palate def: "A benign neoplasm that involves the hard palate." [MONDO:patterns/location] synonym: "benign hard palate neoplasm" EXACT [NCIT:C4403] synonym: "benign hard palate tumor" EXACT [NCIT:C4403] +synonym: "benign hard palate tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the hard palate" EXACT [NCIT:C4403] synonym: "benign tumor of hard palate" EXACT [NCIT:C4403] synonym: "benign tumor of the hard palate" EXACT [NCIT:C4403] +synonym: "benign tumour of hard palate" EXACT OMO:0003005 [] +synonym: "benign tumour of the hard palate" EXACT OMO:0003005 [] synonym: "hard palate benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD9:210.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C4403 {source="MONDO:equivalentTo"} @@ -398231,11 +403799,15 @@ name: benign neoplasm of floor of mouth def: "A benign neoplasm that involves the mouth floor." [MONDO:patterns/location] synonym: "benign floor of mouth neoplasm" EXACT [NCIT:C3593] synonym: "benign floor of mouth tumor" EXACT [NCIT:C3593] +synonym: "benign floor of mouth tumour" EXACT OMO:0003005 [] synonym: "benign floor of the mouth neoplasm" EXACT [NCIT:C3593] synonym: "benign floor of the mouth tumor" EXACT [NCIT:C3593] +synonym: "benign floor of the mouth tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the floor of the mouth" EXACT [NCIT:C3593] synonym: "benign tumor of floor of mouth" EXACT [NCIT:C3593] synonym: "benign tumor of the floor of the mouth" EXACT [NCIT:C3593] +synonym: "benign tumour of floor of mouth" EXACT OMO:0003005 [] +synonym: "benign tumour of the floor of the mouth" EXACT OMO:0003005 [] synonym: "mouth floor benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD10CM:D10.2 {source="MONDO:equivalentTo"} xref: ICD9:210.3 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -398253,9 +403825,12 @@ def: "A benign neoplasm that involves the mediastinum." [MONDO:patterns/location synonym: "benign mediastinal neoplasm" EXACT [NCIT:C3604] synonym: "benign mediastinal neoplasms NOS" RELATED EXCLUDE [NCIT:C3604] synonym: "benign mediastinal tumor" EXACT [NCIT:C3604] +synonym: "benign mediastinal tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the mediastinum" EXACT [NCIT:C3604] synonym: "benign tumor of mediastinum" EXACT [NCIT:C3604] synonym: "benign tumor of the mediastinum" EXACT [NCIT:C3604] +synonym: "benign tumour of mediastinum" EXACT OMO:0003005 [] +synonym: "benign tumour of the mediastinum" EXACT OMO:0003005 [] synonym: "mediastinum benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD10CM:D15.2 {source="MONDO:equivalentTo"} xref: ICD9:212.5 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -398290,10 +403865,14 @@ def: "A benign neoplasm that involves the pharynx." [MONDO:patterns/location] synonym: "benign neoplasm of the pharynx" EXACT [NCIT:C3597] synonym: "benign pharyngeal neoplasm" EXACT [NCIT:C3597] synonym: "benign pharyngeal tumor" EXACT [NCIT:C3597] +synonym: "benign pharyngeal tumour" EXACT OMO:0003005 [] synonym: "benign pharynx neoplasm" EXACT [NCIT:C3597] synonym: "benign pharynx tumor" EXACT [NCIT:C3597] +synonym: "benign pharynx tumour" EXACT OMO:0003005 [] synonym: "benign tumor of pharynx" EXACT [NCIT:C3597] synonym: "benign tumor of the pharynx" EXACT [NCIT:C3597] +synonym: "benign tumour of pharynx" EXACT OMO:0003005 [] +synonym: "benign tumour of the pharynx" EXACT OMO:0003005 [] synonym: "pharyngeal neoplasm benign" EXACT [NCIT:C3597] synonym: "pharynx benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD9:210.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -398310,9 +403889,12 @@ name: benign neoplasm of buccal mucosa def: "A benign neoplasm that involves the buccal mucosa." [MONDO:patterns/location] synonym: "benign buccal mucosa neoplasm" EXACT [NCIT:C4406] synonym: "benign buccal mucosa tumor" EXACT [NCIT:C4406] +synonym: "benign buccal mucosa tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the buccal mucosa" EXACT [NCIT:C4406] synonym: "benign tumor of buccal mucosa" EXACT [NCIT:C4406] synonym: "benign tumor of the buccal mucosa" EXACT [NCIT:C4406] +synonym: "benign tumour of buccal mucosa" EXACT OMO:0003005 [] +synonym: "benign tumour of the buccal mucosa" EXACT OMO:0003005 [] synonym: "buccal mucosa benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD9:210.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C4406 {source="MONDO:equivalentTo"} @@ -398328,6 +403910,7 @@ name: benign neoplasm of corpus uteri def: "A benign neoplasm that involves the body of uterus." [MONDO:patterns/location] synonym: "benign corpus uteri neoplasm" EXACT [NCIT:C3608] synonym: "benign corpus uteri tumor" EXACT [NCIT:C3608] +synonym: "benign corpus uteri tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of body of uterus" EXACT [NCIT:C3608] synonym: "benign neoplasm of the body of uterus" EXACT [NCIT:C3608] synonym: "benign neoplasm of the corpus uteri" EXACT [NCIT:C3608] @@ -398343,10 +403926,20 @@ synonym: "benign tumor of the uterine body" EXACT [NCIT:C3608] synonym: "benign tumor of the uterine corpus" EXACT [NCIT:C3608] synonym: "benign tumor of uterine body" EXACT [NCIT:C3608] synonym: "benign tumor of uterine corpus" EXACT [NCIT:C3608] +synonym: "benign tumour of body of uterus" EXACT OMO:0003005 [] +synonym: "benign tumour of corpus uteri" EXACT OMO:0003005 [] +synonym: "benign tumour of the body of uterus" EXACT OMO:0003005 [] +synonym: "benign tumour of the corpus uteri" EXACT OMO:0003005 [] +synonym: "benign tumour of the uterine body" EXACT OMO:0003005 [] +synonym: "benign tumour of the uterine corpus" EXACT OMO:0003005 [] +synonym: "benign tumour of uterine body" EXACT OMO:0003005 [] +synonym: "benign tumour of uterine corpus" EXACT OMO:0003005 [] synonym: "benign uterine body neoplasm" EXACT [NCIT:C3608] synonym: "benign uterine body tumor" EXACT [NCIT:C3608] +synonym: "benign uterine body tumour" EXACT OMO:0003005 [] synonym: "benign uterine corpus neoplasm" EXACT [NCIT:C3608] synonym: "benign uterine corpus tumor" EXACT [NCIT:C3608] +synonym: "benign uterine corpus tumour" EXACT OMO:0003005 [] synonym: "body of uterus benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD9:219.1 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3608 {source="MONDO:equivalentTo"} @@ -398366,13 +403959,18 @@ synonym: "benign meningeal neoplasm" EXACT [NCIT:C4957] synonym: "benign meningeal neoplasms" EXACT [NCIT:C4957] synonym: "benign meningeal tumor" EXACT [NCIT:C4957] synonym: "benign meningeal tumors" EXACT [NCIT:C4957] +synonym: "benign meningeal tumour" EXACT OMO:0003005 [] +synonym: "benign meningeal tumours" EXACT OMO:0003005 [] synonym: "benign meninges neoplasm" EXACT [NCIT:C4957] synonym: "benign meninges tumor" EXACT [NCIT:C4957] +synonym: "benign meninges tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the meninges" EXACT [NCIT:C4957] synonym: "benign neoplasms of meninges" EXACT [NCIT:C4957] synonym: "benign neoplasms of the meninges" EXACT [NCIT:C4957] synonym: "benign tumor of meninges" EXACT [NCIT:C4957] synonym: "benign tumor of the meninges" EXACT [NCIT:C4957] +synonym: "benign tumour of meninges" EXACT OMO:0003005 [] +synonym: "benign tumour of the meninges" EXACT OMO:0003005 [] synonym: "meningeal cluster benign neoplasm" EXACT [MONDO:patterns/location] synonym: "meningeal tumors, benign" EXACT [NCIT:C4957] xref: ICD10CM:D32 {source="MONDO:equivalentTo"} @@ -398389,9 +403987,12 @@ name: benign neoplasm of male breast def: "A non-metastasizing neoplasm that arises from the breast parenchyma in males." [NCIT:C4620] synonym: "benign Male breast neoplasm" EXACT [NCIT:C4620] synonym: "benign Male breast tumor" EXACT [NCIT:C4620] +synonym: "benign Male breast tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the Male breast" EXACT [NCIT:C4620] synonym: "benign tumor of Male breast" EXACT [NCIT:C4620] synonym: "benign tumor of the Male breast" EXACT [NCIT:C4620] +synonym: "benign tumour of Male breast" EXACT OMO:0003005 [] +synonym: "benign tumour of the Male breast" EXACT OMO:0003005 [] synonym: "male breast benign neoplasm" EXACT [MONDO:patterns/location] xref: NCIT:C4620 {source="MONDO:equivalentTo"} xref: SCTID:92206006 {source="MONDO:equivalentTo"} @@ -398406,9 +404007,12 @@ name: benign neoplasm of chest wall def: "A benign neoplasm that involves the chest wall." [MONDO:patterns/location] synonym: "benign chest wall neoplasm" EXACT [NCIT:C8529] synonym: "benign chest wall tumor" EXACT [NCIT:C8529] +synonym: "benign chest wall tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the chest wall" EXACT [NCIT:C8529] synonym: "benign tumor of chest wall" EXACT [NCIT:C8529] synonym: "benign tumor of the chest wall" EXACT [NCIT:C8529] +synonym: "benign tumour of chest wall" EXACT OMO:0003005 [] +synonym: "benign tumour of the chest wall" EXACT OMO:0003005 [] synonym: "chest wall benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD9:229.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C8529 {source="MONDO:equivalentTo"} @@ -398426,10 +404030,14 @@ def: "A benign neoplasm that involves the subglottis." [MONDO:patterns/location] synonym: "benign neoplasm of the subglottis" EXACT [NCIT:C4427] synonym: "benign subglottic neoplasm" EXACT [NCIT:C4427] synonym: "benign subglottic tumor" EXACT [NCIT:C4427] +synonym: "benign subglottic tumour" EXACT OMO:0003005 [] synonym: "benign subglottis neoplasm" EXACT [NCIT:C4427] synonym: "benign subglottis tumor" EXACT [NCIT:C4427] +synonym: "benign subglottis tumour" EXACT OMO:0003005 [] synonym: "benign tumor of subglottis" EXACT [NCIT:C4427] synonym: "benign tumor of the subglottis" EXACT [NCIT:C4427] +synonym: "benign tumour of subglottis" EXACT OMO:0003005 [] +synonym: "benign tumour of the subglottis" EXACT OMO:0003005 [] synonym: "subglottis benign neoplasm" EXACT [MONDO:patterns/location] xref: NCIT:C4427 {source="MONDO:equivalentTo"} xref: SCTID:92412003 {source="MONDO:equivalentTo"} @@ -398475,12 +404083,17 @@ name: intestinal neuroendocrine tumor G1 def: "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the small or large intestine. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." [NCIT:C4637] synonym: "carcinoid tumor of intestine" EXACT [NCIT:C4637] synonym: "carcinoid tumor of the intestine" EXACT [NCIT:C4637] +synonym: "carcinoid tumour of intestine" EXACT OMO:0003005 [] +synonym: "carcinoid tumour of the intestine" EXACT OMO:0003005 [] synonym: "grade 1 neuroendocrine neoplasm of intestine" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] synonym: "intestinal carcinoid tumor" EXACT [NCIT:C4637] +synonym: "intestinal carcinoid tumour" EXACT OMO:0003005 [] synonym: "intestinal NET G1" EXACT [NCIT:C4637] synonym: "intestinal neuroendocrine tumor G1" EXACT [NCIT:C4637] synonym: "intestine carcinoid tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1, NCIT:C4637] synonym: "intestine carcinoid tumor (disease)" EXACT [MONDO:patterns/location] +synonym: "intestine carcinoid tumour" EXACT OMO:0003005 [] +synonym: "intestine carcinoid tumour (disease)" EXACT OMO:0003005 [] synonym: "intestine NET G1" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] synonym: "intestine neuroendocrine neoplasm G1" EXACT [] synonym: "intestine neuroendocrine tumor, well differentiated, low grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] @@ -398505,13 +404118,18 @@ synonym: "carcinoid of rectum" EXACT [NCIT:C5547] synonym: "carcinoid of the rectum" EXACT [NCIT:C5547] synonym: "carcinoid tumor of rectum" EXACT [NCIT:C5547] synonym: "carcinoid tumor of the rectum" EXACT [NCIT:C5547] +synonym: "carcinoid tumour of rectum" EXACT OMO:0003005 [] +synonym: "carcinoid tumour of the rectum" EXACT OMO:0003005 [] synonym: "grade 1 neuroendocrine neoplasm of rectum" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] synonym: "rectal carcinoid" EXACT [NCIT:C5547] synonym: "rectal carcinoid tumor" EXACT [NCIT:C5547] +synonym: "rectal carcinoid tumour" EXACT OMO:0003005 [] synonym: "rectal NET G1" EXACT [NCIT:C5547] synonym: "rectal neuroendocrine tumor G1" EXACT [NCIT:C5547] synonym: "rectum carcinoid tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] synonym: "rectum carcinoid tumor (disease)" EXACT [MONDO:patterns/location] +synonym: "rectum carcinoid tumour" EXACT OMO:0003005 [] +synonym: "rectum carcinoid tumour (disease)" EXACT OMO:0003005 [] synonym: "rectum NET G1" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] synonym: "rectum neuroendocrine neoplasm G1" EXACT [] synonym: "rectum neuroendocrine tumor, well differentiated, low grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] @@ -398531,6 +404149,7 @@ name: pancreatic neuroendocrine tumor G1 def: "A low grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal or less than 2%." [NCIT:C95584] synonym: "grade 1 neuroendocrine neoplasm of pancreas" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] synonym: "pancreas carcinoid tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] +synonym: "pancreas carcinoid tumour" EXACT OMO:0003005 [] synonym: "pancreas NET G1" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] synonym: "pancreas neuroendocrine neoplasm G1" EXACT [] synonym: "pancreas neuroendocrine tumor, well differentiated, low grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] @@ -398696,17 +404315,21 @@ synonym: "muscle neoplasm" EXACT [NCIT:C4063] synonym: "muscle tissue neoplasm" RELATED [MESH:D009379] synonym: "muscle tissue neoplasms" RELATED [MESH:D009379] synonym: "muscle tumor" EXACT [NCIT:C4063] +synonym: "muscle tumour" EXACT OMO:0003005 [] synonym: "myoblastoma" RELATED [MESH:D009379] synonym: "myoblastomas" RELATED [MESH:D009379] synonym: "myofibroblastoma" RELATED [MESH:D009379] synonym: "myofibroblastomas" RELATED [MESH:D009379] synonym: "myomatous neoplasm" EXACT [NCIT:C4063] synonym: "myomatous tumor" EXACT [NCIT:C4063] +synonym: "myomatous tumour" EXACT OMO:0003005 [] synonym: "neoplasm of muscle" EXACT [NCIT:C4063] synonym: "neoplasm of the muscle" EXACT [NCIT:C4063] synonym: "neoplasm, muscle tissue" RELATED [MESH:D009379] synonym: "tumor of muscle" EXACT [NCIT:C4063] synonym: "tumor of the muscle" EXACT [NCIT:C4063] +synonym: "tumour of muscle" EXACT OMO:0003005 [] +synonym: "tumour of the muscle" EXACT OMO:0003005 [] xref: MESH:D009379 {source="MONDO:equivalentTo"} xref: MESH:D019042 {source="MONDO:equivalentTo"} xref: NCIT:C4063 {source="MONDO:equivalentTo"} @@ -398722,6 +404345,7 @@ name: ependymal tumor of spinal cord def: "An ependymal tumor that arises from the spinal cord." [NCIT:C131526] synonym: "ependymal tumor of spinal cord" EXACT [NCIT:C131526] synonym: "spinal cord ependymal tumor" EXACT [MONDO:patterns/location] +synonym: "spinal cord ependymal tumour" EXACT OMO:0003005 [] xref: NCIT:C131526 {source="MONDO:equivalentTo"} xref: UMLS:C4318747 {source="MONDO:equivalentTo"} is_a: MONDO:0002542 {source="NCIT:C131526"} ! spinal cord glioma @@ -398781,6 +404405,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0021559 name: non-autoimmune hemolytic anemia def: "Hemolytic anemia that is not mediated by immune mechanisms." [NCIT:C34853] +synonym: "Non-Autoimmune Hemolytic Anaemia" RELATED OMO:0003005 [] +synonym: "Non-autoimmune hemolytic anaemia" RELATED OMO:0003005 [] synonym: "Non-Autoimmune Hemolytic Anemia" RELATED [NCIT:C34853] synonym: "Non-autoimmune hemolytic anemia" RELATED [UMLS:C0028283] synonym: "non-autoimmune hemolytic anemia" EXACT [NCIT:C34853] @@ -398973,11 +404599,15 @@ synonym: "neoplasm of sternum (disorder)" EXACT [] synonym: "neoplasm of the sternum" EXACT [NCIT:C6730] synonym: "sternal neoplasm" EXACT [NCIT:C6730] synonym: "sternal tumor" EXACT [NCIT:C6730] +synonym: "sternal tumour" EXACT OMO:0003005 [] synonym: "sternum neoplasm" EXACT [] synonym: "sternum neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "sternum tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "sternum tumour" EXACT OMO:0003005 [] synonym: "tumor of sternum" EXACT [MONDO:patterns/neoplasm, NCIT:C6730] synonym: "tumor of the sternum" EXACT [NCIT:C6730] +synonym: "tumour of sternum" EXACT OMO:0003005 [] +synonym: "tumour of the sternum" EXACT OMO:0003005 [] xref: ICD9:239.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C6730 {source="MONDO:equivalentTo"} xref: SCTID:126559003 {source="MONDO:equivalentTo"} @@ -398993,8 +404623,10 @@ def: "A neoplasm (disease) that involves the femur." [MONDO:patterns/location] synonym: "femur neoplasm" EXACT [] synonym: "femur neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "femur tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "femur tumour" EXACT OMO:0003005 [] synonym: "neoplasm of femur" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of femur" EXACT [MONDO:patterns/neoplasm] +synonym: "tumour of femur" EXACT OMO:0003005 [] xref: ICD9:239.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:126583006 {source="MONDO:equivalentTo"} is_a: MONDO:0005381 {source="MONDO:Redundant"} ! bone disorder @@ -399008,8 +404640,10 @@ def: "A neoplasm (disease) that involves the jaw skeleton." [MONDO:patterns/loca synonym: "jaw skeleton neoplasm" EXACT [] synonym: "jaw skeleton neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "jaw skeleton tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "jaw skeleton tumour" EXACT OMO:0003005 [] synonym: "neoplasm of jaw skeleton" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of jaw skeleton" EXACT [MONDO:patterns/neoplasm] +synonym: "tumour of jaw skeleton" EXACT OMO:0003005 [] xref: ICD9:239.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:126634001 {source="MONDO:equivalentTo"} is_a: MONDO:0005586 {source="MONDO:Entailed"} ! head and neck neoplasm @@ -399024,11 +404658,12 @@ synonym: "connective tissue neoplasm" EXACT [MESH:D009372] synonym: "connective tissue neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "connective tissue neoplasms" RELATED [MESH:D009372] synonym: "connective tissue tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "connective tissue tumour" EXACT OMO:0003005 [] synonym: "neoplasm of connective tissue" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of connective tissues" EXACT [DOID:201] synonym: "neoplasm, connective tissue" RELATED [MESH:D009372] -synonym: "tumor of connective tissue" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "tumor of connective tissue" EXACT [MONDO:patterns/neoplasm] +synonym: "tumor of connective tissue" EXACT [https://orcid.org/0000-0002-6601-2165, MONDO:patterns/neoplasm] +synonym: "tumour of connective tissue" EXACT OMO:0003005 [] xref: ICD9:239.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D009372 {source="MONDO:equivalentTo"} xref: SCTID:126598008 {source="MONDO:equivalentTo"} @@ -399095,10 +404730,13 @@ name: benign eyelid neoplasm def: "A non-metastasizing neoplasm that arises from the upper or lower eyelid." [NCIT:C4354] synonym: "benign eyelid neoplasm" EXACT [NCIT:C4354] synonym: "benign eyelid tumor" EXACT [NCIT:C4354] +synonym: "benign eyelid tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of eyelid" EXACT [NCIT:C4354] synonym: "benign neoplasm of the eyelid" EXACT [NCIT:C4354] synonym: "benign tumor of eyelid" EXACT [NCIT:C4354] synonym: "benign tumor of the eyelid" EXACT [NCIT:C4354] +synonym: "benign tumour of eyelid" EXACT OMO:0003005 [] +synonym: "benign tumour of the eyelid" EXACT OMO:0003005 [] synonym: "eyelid benign neoplasm" EXACT [MONDO:patterns/location] xref: NCIT:C4354 {source="MONDO:equivalentTo"} xref: SCTID:231824001 {source="MONDO:equivalentTo"} @@ -399161,9 +404799,12 @@ synonym: "neoplasm of the uterine ligament" EXACT [NCIT:C40133] synonym: "neoplasm of uterine ligament" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of the uterine ligament" EXACT [NCIT:C40133] synonym: "tumor of uterine ligament" EXACT [MONDO:patterns/neoplasm] +synonym: "tumour of the uterine ligament" EXACT OMO:0003005 [] +synonym: "tumour of uterine ligament" EXACT OMO:0003005 [] synonym: "uterine ligament neoplasm" EXACT [NCIT:C40133] synonym: "uterine ligament neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "uterine ligament tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C40133] +synonym: "uterine ligament tumour" EXACT OMO:0003005 [] xref: NCIT:C40133 {source="MONDO:equivalentTo"} xref: UMLS:C1519870 {source="MONDO:equivalentTo", source="NCIT:C40133"} is_a: MONDO:0021148 {source="MONDO:Redundant", source="NCIT:C40133"} ! female reproductive system neoplasm @@ -399201,6 +404842,7 @@ id: MONDO:0021632 name: primary brain neoplasm synonym: "primary brain neoplasm" EXACT [NCIT:C4952] synonym: "primary brain tumor" EXACT [NCIT:C4952] +synonym: "primary brain tumour" EXACT OMO:0003005 [] xref: NCIT:C170814 {source="MONDO:equivalentTo"} xref: NCIT:C4952 {source="ONCOTREE:PBT", source="MONDO:equivalentTo"} xref: ONCOTREE:PBT {source="MONDO:equivalentTo"} @@ -399233,8 +404875,10 @@ name: epithelial skin neoplasm def: "A epithelial neoplasm that involves the zone of skin." [MONDO:patterns/location] synonym: "epithelial skin neoplasm" EXACT [NCIT:C7342] synonym: "epithelial skin tumor" EXACT [NCIT:C7342] +synonym: "epithelial skin tumour" EXACT OMO:0003005 [] synonym: "skin epithelium neoplasm" EXACT [NCIT:C7342] synonym: "skin epithelium tumor" EXACT [NCIT:C7342] +synonym: "skin epithelium tumour" EXACT OMO:0003005 [] synonym: "zone of skin epithelial neoplasm" EXACT [MONDO:patterns/location] xref: NCIT:C7342 {source="MONDO:equivalentTo"} xref: UMLS:C0345976 {source="NCIT:C7342", source="MONDO:equivalentTo"} @@ -399302,6 +404946,7 @@ synonym: "low grade astrocytic neoplasm" EXACT [NCIT:C116342] synonym: "low grade astrocytic tumor" EXACT [NCIT:C116342] synonym: "low-grade astrocytic neoplasm" EXACT [NCIT:C116342] synonym: "low-grade astrocytic tumor" EXACT [NCIT:C116342] +synonym: "low-grade astrocytic tumour" EXACT OMO:0003005 [] xref: NCIT:C116342 {source="MONDO:equivalentTo"} xref: UMLS:C3898569 {source="NCIT:C116342", source="MONDO:equivalentTo"} is_a: MONDO:0021636 {source="MONDO:Redundant", source="NCIT:C116342"} ! astrocytic tumor @@ -399412,9 +405057,11 @@ synonym: "body of uterus NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "body of uterus neuroendocrine neoplasm" EXACT [MONDO:patterns/location] synonym: "body of uterus neuroendocrine tumor" EXACT [MONDO:patterns/location, MONDO:patterns/neuroendocrine_neoplasm] synonym: "body of uterus neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm] +synonym: "body of uterus neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "neuroendocrine neoplasm of body of uterus" EXACT [MONDO:design_pattern, MONDO:patterns/neuroendocrine_neoplasm] synonym: "uterine corpus neuroendocrine neoplasm" EXACT [NCIT:C126771] synonym: "uterine corpus neuroendocrine tumor" EXACT [NCIT:C126771] +synonym: "uterine corpus neuroendocrine tumour" EXACT OMO:0003005 [] xref: NCIT:C126771 {source="MONDO:equivalentTo"} xref: UMLS:C4288048 {source="MONDO:equivalentTo"} is_a: MONDO:0019496 {source="MONDO:Redundant", source="NCIT:C126771"} ! neuroendocrine neoplasm @@ -399493,10 +405140,15 @@ id: MONDO:0021656 name: nongerminomatous germ cell tumor def: "A term that refers to teratoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, or mixed forms of these tumors." [NCIT:C121619] synonym: "non-dysgerminomatous germ cell tumor" EXACT [NCIT:C121619] +synonym: "non-dysgerminomatous germ cell tumour" EXACT OMO:0003005 [] synonym: "non-germinomatous germ cell tumor" EXACT [NCIT:C121619] +synonym: "non-germinomatous germ cell tumour" EXACT OMO:0003005 [] synonym: "non-seminomatous germ cell tumor" EXACT [NCIT:C121619] +synonym: "non-seminomatous germ cell tumour" EXACT OMO:0003005 [] synonym: "Nongerminomatous germ cell tumor" EXACT [NCIT:C121619] synonym: "Nongerminomatous germ cell tumor Including central nervous system" EXACT [NCIT:C121619] +synonym: "Nongerminomatous germ cell tumour" EXACT OMO:0003005 [] +synonym: "Nongerminomatous germ cell tumour Including central nervous system" EXACT OMO:0003005 [] synonym: "NSGCT" RELATED ABBREVIATION [ONCOTREE:NSGCT] xref: NCIT:C121619 {source="MONDO:equivalentTo"} xref: ONCOTREE:NSGCT {source="MONDO:equivalentTo"} @@ -399509,15 +405161,22 @@ id: MONDO:0021657 name: ovarian sex cord-stromal tumor def: "A benign or malignant neoplasm that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts. Representative examples include thecoma, fibroma, Sertoli cell tumor, and granulosa cell tumor." [NCIT:C4862] synonym: "ovarian sex cord tumor with annular tubules" RELATED [GARD:0012285] +synonym: "ovarian sex cord tumour with annular tubules" RELATED OMO:0003005 [] synonym: "ovarian Sex cord-stromal neoplasm" EXACT [NCIT:C4862] synonym: "ovarian Sex cord-stromal tumor" EXACT [NCIT:C4862] +synonym: "ovarian Sex cord-stromal tumour" EXACT OMO:0003005 [] synonym: "ovary sex cord-stromal tumor" EXACT [MONDO:patterns/location] +synonym: "ovary sex cord-stromal tumour" EXACT OMO:0003005 [] synonym: "sex cord stromal tumor" RELATED [ONCOTREE:SCST] +synonym: "sex cord stromal tumour" RELATED OMO:0003005 [] synonym: "Sex cord-stromal neoplasm of ovary" EXACT [NCIT:C4862] synonym: "Sex cord-stromal neoplasm of the ovary" EXACT [NCIT:C4862] synonym: "Sex cord-stromal tumor of ovary" EXACT [NCIT:C4862] synonym: "sex cord-stromal tumor of ovary" EXACT [] synonym: "Sex cord-stromal tumor of the ovary" EXACT [NCIT:C4862] +synonym: "Sex cord-stromal tumour of ovary" EXACT OMO:0003005 [] +synonym: "sex cord-stromal tumour of ovary" EXACT OMO:0003005 [] +synonym: "Sex cord-stromal tumour of the ovary" EXACT OMO:0003005 [] xref: DOID:0080369 {source="MONDO:equivalentTo"} xref: EFO:1000430 {source="MONDO:equivalentTo"} xref: NCIT:C4862 {source="MONDO:equivalentTo"} @@ -399543,14 +405202,18 @@ def: "A malignant epithelial neoplasm composed of a mixture of neuroendocrine ce subset: gard_rare synonym: "adenocarcinoid neoplasm" EXACT [NCIT:C4139] synonym: "adenocarcinoid tumor" EXACT [NCIT:C4139] +synonym: "adenocarcinoid tumour" EXACT OMO:0003005 [] synonym: "combined carcinoid and adenocarcinoma" EXACT [NCIT:C4139] synonym: "combined carcinoid neoplasm and adenocarcinoma" EXACT [NCIT:C4139] synonym: "combined carcinoid tumor and adenocarcinoma" EXACT [NCIT:C4139] +synonym: "combined carcinoid tumour and adenocarcinoma" EXACT OMO:0003005 [] synonym: "composite carcinoid" EXACT [NCIT:C4139] synonym: "composite carcinoid neoplasm" EXACT [NCIT:C4139] synonym: "composite carcinoid tumor" EXACT [NCIT:C4139] +synonym: "composite carcinoid tumour" EXACT OMO:0003005 [] synonym: "mixed carcinoid neoplasm" EXACT [NCIT:C4139] synonym: "mixed carcinoid tumor" EXACT [NCIT:C4139] +synonym: "mixed carcinoid tumour" EXACT OMO:0003005 [] xref: ICDO:8244/3 {source="NCIT:C4139"} xref: ICDO:8245/3 {source="NCIT:C4139"} xref: MESH:C538230 {source="MONDO:equivalentTo"} @@ -399600,10 +405263,13 @@ def: "A benign or malignant neoplasm that affects the intrahepatic or extrahepat synonym: "bile duct neoplasm" EXACT [NCIT:C2898] synonym: "bile duct neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "bile duct tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C2898] +synonym: "bile duct tumour" EXACT OMO:0003005 [] synonym: "intrahepatic and extrahepatic bile duct neoplasm" EXACT [NCIT:C2898] synonym: "intrahepatic and extrahepatic bile duct tumor" EXACT [NCIT:C2898] +synonym: "intrahepatic and extrahepatic bile duct tumour" EXACT OMO:0003005 [] synonym: "neoplasm of bile duct" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of bile duct" EXACT [MONDO:patterns/neoplasm] +synonym: "tumour of bile duct" EXACT OMO:0003005 [] xref: MESH:D001650 {source="MONDO:equivalentTo"} xref: NCIT:C2898 {source="MONDO:equivalentTo"} xref: UMLS:C0005396 {source="MONDO:equivalentTo", source="NCIT:C2898"} @@ -399745,11 +405411,14 @@ comment: Editor note: this does not correspond to a taxonomic grouping, so class synonym: "bacterial infection, gram-negative" RELATED [MESH:D016905] synonym: "bacterial infections, gram negative" RELATED [MESH:D016905] synonym: "bacterial infections, gram-negative" RELATED [MESH:D016905] +synonym: "bacterial infections, gramme negative" RELATED OMO:0003005 [] synonym: "gram negative bacterial infections" RELATED [MESH:D016905] synonym: "gram-negative bacterial infection" RELATED [MESH:D016905] +synonym: "gramme negative bacterial infections" RELATED OMO:0003005 [] synonym: "infection, gram-negative bacterial" RELATED [MESH:D016905] synonym: "infections, gram negative bacterial" RELATED [MESH:D016905] synonym: "infections, gram-negative bacterial" RELATED [MESH:D016905] +synonym: "infections, gramme negative bacterial" RELATED OMO:0003005 [] xref: ICD9:041.85 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D016905 {source="MONDO:equivalentTo"} xref: SCTID:371583007 {source="MONDO:equivalentTo"} @@ -399763,11 +405432,14 @@ comment: Editor note: this does not correspond to a taxonomic grouping, so class synonym: "bacterial infection, Gram-positive" RELATED [MESH:D016908] synonym: "bacterial infections, Gram Positive" RELATED [MESH:D016908] synonym: "bacterial infections, Gram-positive" RELATED [MESH:D016908] +synonym: "bacterial infections, Gramme Positive" RELATED OMO:0003005 [] synonym: "Gram Positive bacterial infections" RELATED [MESH:D016908] synonym: "Gram-positive bacterial infection" RELATED [MESH:D016908] +synonym: "Gramme Positive bacterial infections" RELATED OMO:0003005 [] synonym: "infection, Gram-positive bacterial" RELATED [MESH:D016908] synonym: "infections, Gram Positive bacterial" RELATED [MESH:D016908] synonym: "infections, Gram-positive bacterial" RELATED [MESH:D016908] +synonym: "infections, Gramme Positive bacterial" RELATED OMO:0003005 [] xref: ICD9:041.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D016908 {source="MONDO:equivalentTo"} xref: SCTID:371582002 {source="MONDO:equivalentTo"} @@ -400382,7 +406054,9 @@ synonym: "acute mountain sickness" EXACT [] synonym: "altitude anoxia" RELATED [GARD:0005730] synonym: "altitude sickness" RELATED [GARD:0005730] synonym: "high altitude cerebral edema" RELATED [GARD:0005730] +synonym: "high altitude cerebral oedema" RELATED OMO:0003005 [] synonym: "high altitude pulmonary edema" RELATED [GARD:0005730] +synonym: "high altitude pulmonary oedema" RELATED OMO:0003005 [] synonym: "Mountain sickness" RELATED [GARD:0005730] synonym: "soroche" RELATED [] xref: ICD9:993.2 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -401159,9 +406833,13 @@ synonym: "boerhaave's syndrome" RELATED [] synonym: "Boerhave syndrome" RELATED [GARD:0009261, MESH:C536571] synonym: "spontaneous esophageal perforation" RELATED [] synonym: "spontaneous perforation of esophagus" RELATED [] +synonym: "spontaneous perforation of oesophagus" RELATED OMO:0003005 [] synonym: "spontaneous perforation of the esophagus" RELATED [GARD:0009261] +synonym: "spontaneous perforation of the oesophagus" RELATED OMO:0003005 [] synonym: "spontaneous rupture of esophagus" EXACT [] +synonym: "spontaneous rupture of oesophagus" EXACT OMO:0003005 [] synonym: "spontaneous rupture of the esophagus" RELATED [GARD:0009261] +synonym: "spontaneous rupture of the oesophagus" RELATED OMO:0003005 [] xref: MESH:C536571 {source="MONDO:equivalentTo"} xref: SCTID:19995004 {source="MONDO:equivalentTo"} xref: UMLS:C0238115 {source="GARD:0009261", source="MONDO:equivalentTo"} @@ -401308,6 +406986,7 @@ subset: gard_rare synonym: "calcifying epithelial odontogenic tumor" EXACT [NCIT:C54301] synonym: "CEOT" RELATED ABBREVIATION [GARD:0006256] synonym: "Pindborg tumor" EXACT [GARD:0006256, MESH:C537961, NCIT:C54301] +synonym: "Pindborg tumour" EXACT OMO:0003005 [] xref: ICDO:9340/0 {source="NCIT:C54301"} xref: MESH:C537961 {source="MONDO:equivalentTo"} xref: NCIT:C54301 {source="MONDO:equivalentTo"} @@ -401512,6 +407191,7 @@ def: "A rare condition characterized by the secretion of colored sweat, caused b subset: gard_rare synonym: "chromhidrosis" EXACT [] synonym: "secretion of colored sweat" RELATED [] +synonym: "secretion of coloured sweat" RELATED OMO:0003005 [] xref: ICD10CM:L75.1 {source="MONDO:equivalentTo"} xref: ICD9:705.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:26147006 {source="MONDO:equivalentTo"} @@ -402203,6 +407883,7 @@ id: MONDO:0022428 name: aluminosis def: "Aluminosis is characterized as diffuse interstitial fibrosis which is mainly located in the upper and middle lobes of the lung. In advanced stages it is characterized by subpleural bullous emphysema with an increased risk of spontaneous pneumothorax." [https://orcid.org/0000-0001-5208-3432, PMID:16722569] subset: gard_rare +synonym: "aluminium lung" RELATED OMO:0003005 [] synonym: "aluminosis of lung" EXACT [] synonym: "aluminum lung" RELATED [GARD:0008357] synonym: "pulmonary aluminosis" EXACT [] @@ -402217,6 +407898,7 @@ name: persistent fetal circulation syndrome def: "A cardiopulmonary disorder characterized by systemic arterial hypoxemia secondary to pulmonary hypertension and extrapulmonary right to left shunting across the foramen ovale and ductus arteriosus." [NCIT:C85006] comment: Editor note: consider relationship to MONDO:0009934 synonym: "persistent fetal circulation" EXACT [NCIT:C85006] +synonym: "persistent foetal circulation" EXACT OMO:0003005 [] synonym: "persistent pulmonary hypertension of the newborn" EXACT [NCIT:C85006] synonym: "PPHN" EXACT ABBREVIATION [NCIT:C85006] xref: MESH:D010547 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} @@ -402827,8 +408509,10 @@ name: extraovarian Brenner tumor of the vagina def: "A Brenner tumor that involves the vagina." [MONDO:patterns/location] subset: gard_rare synonym: "Brenner tumor of the vagina" RELATED [GARD:0010006] +synonym: "Brenner tumour of the vagina" RELATED OMO:0003005 [] synonym: "extraovarian Brenner tumor of the vagina" EXACT [GARD:0010006] synonym: "vagina Brenner tumor" EXACT [MONDO:patterns/location] +synonym: "vagina Brenner tumour" EXACT OMO:0003005 [] intersection_of: MONDO:0024235 ! Brenner tumor intersection_of: disease_has_location UBERON:0000996 ! vagina property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10006/brenner-tumor-of-the-vagina" xsd:anyURI {source="GARD:0010006"} @@ -402873,6 +408557,7 @@ name: Brunsting-Perry syndrome subset: gard_rare synonym: "Brunsting Perry syndrome" RELATED [GARD:0010454] synonym: "cicatricial pemphigoid of the Brunsting-Perry type" RELATED [GARD:0010454] +synonym: "localised cicatricial pemphigoid" RELATED OMO:0003005 [] synonym: "localized cicatricial pemphigoid" RELATED [GARD:0010454] xref: EFO:0008611 {source="MONDO:equivalentTo"} xref: UMLS:C1304226 {source="GARD:0010454", source="MONDO:equivalentTo"} @@ -402973,8 +408658,12 @@ def: "A rare carcinoid tumor that occurs during childhood." [NCIT:C118810] subset: gard_rare synonym: "carcinoid tumor (disease) of childhood" EXACT [MONDO:patterns/childhood] synonym: "carcinoid tumor childhood" RELATED [GARD:0009315] +synonym: "carcinoid tumour (disease) of childhood" EXACT OMO:0003005 [] +synonym: "carcinoid tumour childhood" RELATED OMO:0003005 [] synonym: "childhood carcinoid tumor" EXACT [NCIT:C118810] synonym: "childhood carcinoid tumor (disease)" EXACT [] +synonym: "childhood carcinoid tumour (disease)" EXACT OMO:0003005 [] +synonym: "paediatric carcinoid tumour (disease)" EXACT OMO:0003005 [] synonym: "pediatric carcinoid tumor (disease)" EXACT [MONDO:patterns/childhood] xref: NCIT:C118810 {source="MONDO:equivalentTo"} xref: UMLS:C3899673 {source="MONDO:equivalentTo", source="NCIT:C118810"} @@ -404413,6 +410102,7 @@ name: Crohn disease of the esophagus def: "An Crohn disease involving a pathogenic inflammatory response in the esophagus." [MONDO:patterns/specific_inflammatory_disease_by_site] subset: gard_rare synonym: "Crohn's disease of the esophagus" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] +synonym: "Crohn's disease of the oesophagus" EXACT OMO:0003005 [] xref: UMLS:C0341116 {source="MONDO:equivalentTo", source="GARD:0000203"} intersection_of: MONDO:0005011 ! Crohn disease intersection_of: disease_has_inflammation_site UBERON:0001043 ! esophagus @@ -404629,6 +410319,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1702/deafnes id: MONDO:0022948 name: Deal Barratt Dillon syndrome synonym: "Fanconi syndrome, ichthyosis, dysmorphism, jaundice and diarrhea" RELATED [MESH:C538206] +synonym: "Fanconi syndrome, ichthyosis, dysmorphism, jaundice and diarrhoea" RELATED OMO:0003005 [] xref: MESH:C538206 {source="MONDO:equivalentTo"} xref: UMLS:C2931773 {source="MONDO:equivalentTo"} is_a: MONDO:0001083 {source="MESH:C538206"} ! Fanconi renotubular syndrome @@ -405996,18 +411687,23 @@ subset: ordo_group_of_disorders synonym: "functional pancreatic NET" EXACT [NCIT:C45840] synonym: "functional pancreatic neuroendocrine tumor" EXACT [NCIT:C45840] synonym: "functioning neuroendocrine tumor of pancreas" RELATED [Orphanet:506060] +synonym: "functioning neuroendocrine tumour of pancreas" RELATED OMO:0003005 [] synonym: "functioning pancreatic endocrine tumor" EXACT [NCIT:C45840] +synonym: "functioning pancreatic endocrine tumour" EXACT OMO:0003005 [] synonym: "functioning pancreatic NET" EXACT [NCIT:C45840, Orphanet:506060] synonym: "functioning pancreatic neuroendocrine tumor" EXACT [NCIT:C45840, Orphanet:506060] +synonym: "functioning pancreatic neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "functioning PNET" EXACT [Orphanet:506060] synonym: "functioning well differentiated pancreatic endocrine neoplasm" EXACT [NCIT:C45840] synonym: "functioning well differentiated pancreatic endocrine tumor" EXACT [NCIT:C45840] +synonym: "functioning well differentiated pancreatic endocrine tumour" EXACT OMO:0003005 [] synonym: "functioning well-differentiated NEN of pancreas" EXACT [Orphanet:506060] synonym: "functioning well-differentiated neuroendocrine neoplasm of pancreas" EXACT [Orphanet:506060] synonym: "functioning well-differentiated pancreatic NEN" EXACT [Orphanet:506060] synonym: "functioning well-differentiated pancreatic neuroendocrine neoplasm" EXACT [Orphanet:506060] synonym: "syndromic pancreatic NET" EXACT [NCIT:C45840] synonym: "syndromic pancreatic neuroendocrine tumor" EXACT [NCIT:C45840] +synonym: "syndromic pancreatic neuroendocrine tumour" EXACT OMO:0003005 [] xref: NCIT:C45840 {source="MONDO:equivalentTo"} xref: Orphanet:506060 {source="MONDO:equivalentTo"} xref: UMLS:C1708105 {source="GARD:0002414", source="MONDO:notFoundInDiseaseSubset"} @@ -406274,8 +411970,12 @@ def: "A morphologic variant of dermatofibrosarcoma protuberans characterized by subset: gard_rare synonym: "Bednar Tumor" RELATED [MESH:D018223, NCIT:C9430] synonym: "bednar tumor" EXACT [NCIT:C9430] +synonym: "Bednar Tumour" RELATED OMO:0003005 [] +synonym: "bednar tumour" EXACT OMO:0003005 [] synonym: "Bednar's Tumor" RELATED [MESH:D018223] +synonym: "Bednar's Tumour" RELATED OMO:0003005 [] synonym: "Bednars Tumor" RELATED [MESH:D018223] +synonym: "Bednars Tumour" RELATED OMO:0003005 [] synonym: "Dermatofibrosarcoma Protuberan, Pigmented" RELATED [MESH:D018223] synonym: "Dermatofibrosarcoma Protuberans, Pigmented" RELATED [MESH:D018223] synonym: "DFSP, Pigmented" RELATED [MESH:D018223] @@ -406339,16 +412039,22 @@ id: MONDO:0023283 name: ovarian granulosa cell tumor def: "A granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient's age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis." [NCIT:C6261] synonym: "adult granulosa cell tumor of the ovary" RELATED [MESH:C537296] +synonym: "adult granulosa cell tumour of the ovary" RELATED OMO:0003005 [] synonym: "GCT of the ovary" RELATED [MESH:C537296] synonym: "granulosa cell neoplasm of ovary" EXACT [NCIT:C6261] synonym: "granulosa cell neoplasm of the ovary" EXACT [NCIT:C6261] synonym: "granulosa cell tumor of ovary" EXACT [NCIT:C6261] synonym: "granulosa cell tumor of the ovary" EXACT [NCIT:C6261] +synonym: "granulosa cell tumour of ovary" EXACT OMO:0003005 [] +synonym: "granulosa cell tumour of the ovary" EXACT OMO:0003005 [] synonym: "granulosa theca cell tumor" RELATED [MESH:C537296] synonym: "granulosa theca cell tumor of the ovary" RELATED [MESH:C537296] +synonym: "granulosa theca cell tumour" RELATED OMO:0003005 [] +synonym: "granulosa theca cell tumour of the ovary" RELATED OMO:0003005 [] synonym: "ovarian granulosa cell neoplasm" EXACT [NCIT:C6261] synonym: "ovarian granulosa cell tumor" EXACT [NCIT:C6261] synonym: "ovary granulosa cell tumor" EXACT [MONDO:patterns/location] +synonym: "ovary granulosa cell tumour" EXACT OMO:0003005 [] xref: EFO:1000421 {source="MONDO:equivalentTo"} xref: MESH:C537296 {source="MONDO:equivalentTo"} xref: NCIT:C6261 {source="MONDO:equivalentTo"} @@ -406754,6 +412460,7 @@ id: MONDO:0023563 name: Kotzot-Richter syndrome subset: gard_rare synonym: "albinism with immune and hematologic defects" RELATED [GARD:0003134, MESH:C537025] +synonym: "oculocutaneous albinism, immunodeficiency, haematological disorders, and minor anomalies" RELATED OMO:0003005 [] synonym: "oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies" RELATED [GARD:0003134, MESH:C537025] xref: MESH:C537025 {source="MONDO:equivalentTo"} xref: OMIM:203285 {source="GARD:0003134", source="MONDO:equivalentObsolete"} @@ -406802,6 +412509,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3140/kozlows id: MONDO:0023573 name: Kozlowski Warren Fisher syndrome subset: gard_rare +synonym: "cloverleaf skull generalised bone dysplasia" RELATED OMO:0003005 [] synonym: "cloverleaf skull generalized bone dysplasia" RELATED [GARD:0000353, MESH:C537614] xref: MESH:C537614 {source="MONDO:equivalentTo"} xref: UMLS:C2931546 {source="GARD:0000353", source="MONDO:equivalentTo"} @@ -407195,6 +412903,9 @@ synonym: "Glomus tympanicum paraganglioma" RELATED [GTR:AN0102048] synonym: "Glomus Tympanicum Tumor" RELATED [MESH:D043604] synonym: "Glomus tympanicum tumor" RELATED [GTR:AN0102047] synonym: "Glomus Tympanicum Tumors" RELATED [MESH:D043604] +synonym: "Glomus Tympanicum Tumour" RELATED OMO:0003005 [] +synonym: "Glomus tympanicum tumour" RELATED OMO:0003005 [] +synonym: "Glomus Tympanicum Tumours" RELATED OMO:0003005 [] synonym: "Tumor, Glomus Tympanicum" RELATED [MESH:D043604] synonym: "Tumors, Glomus Tympanicum" RELATED [MESH:D043604] synonym: "Tympanic Paraganglioma" RELATED [NCIT:C8428] @@ -407297,17 +413008,25 @@ synonym: "endodermal sinus neoplasm of mediastinum" EXACT [NCIT:C6443] synonym: "endodermal sinus neoplasm of the mediastinum" EXACT [NCIT:C6443] synonym: "endodermal sinus tumor of mediastinum" EXACT [NCIT:C6443] synonym: "endodermal sinus tumor of the mediastinum" EXACT [NCIT:C6443] +synonym: "endodermal sinus tumour of mediastinum" EXACT OMO:0003005 [] +synonym: "endodermal sinus tumour of the mediastinum" EXACT OMO:0003005 [] synonym: "EST" RELATED ABBREVIATION [GARD:0008258] synonym: "mediastinal endodermal sinus neoplasm" EXACT [NCIT:C6443] synonym: "mediastinal endodermal sinus tumor" EXACT [NCIT:C6443] synonym: "mediastinal endodermal sinus tumors" RELATED [GARD:0008258] +synonym: "mediastinal endodermal sinus tumour" EXACT OMO:0003005 [] +synonym: "mediastinal endodermal sinus tumours" RELATED OMO:0003005 [] synonym: "mediastinal yolk Sac neoplasm" EXACT [NCIT:C6443] synonym: "mediastinal yolk Sac tumor" EXACT [NCIT:C6443] +synonym: "mediastinal yolk Sac tumour" EXACT OMO:0003005 [] synonym: "mediastinum yolk sac tumor" EXACT [MONDO:patterns/location] +synonym: "mediastinum yolk sac tumour" EXACT OMO:0003005 [] synonym: "yolk Sac neoplasm of mediastinum" EXACT [NCIT:C6443] synonym: "yolk Sac neoplasm of the mediastinum" EXACT [NCIT:C6443] synonym: "yolk Sac tumor of mediastinum" EXACT [NCIT:C6443] synonym: "yolk Sac tumor of the mediastinum" EXACT [NCIT:C6443] +synonym: "yolk Sac tumour of mediastinum" EXACT OMO:0003005 [] +synonym: "yolk Sac tumour of the mediastinum" EXACT OMO:0003005 [] xref: NCIT:C6443 {source="MONDO:equivalentTo"} xref: UMLS:C1334683 {source="NCIT:C6443", source="MONDO:equivalentTo"} is_a: MONDO:0005744 {source="MONDO:Redundant", source="NCIT:C6443"} ! yolk sac tumor @@ -407727,11 +413446,16 @@ synonym: "benign eccrine neoplasm of skin" EXACT [NCIT:C6797] synonym: "benign eccrine neoplasm of the skin" EXACT [NCIT:C6797] synonym: "benign eccrine skin neoplasm" EXACT [NCIT:C6797] synonym: "benign eccrine skin tumor" EXACT [NCIT:C6797] +synonym: "benign eccrine skin tumour" EXACT OMO:0003005 [] synonym: "benign eccrine sweat gland neoplasm" EXACT [] synonym: "benign eccrine tumor" EXACT [NCIT:C6797] synonym: "benign eccrine tumor of skin" EXACT [NCIT:C6797] synonym: "benign eccrine tumor of the skin" EXACT [NCIT:C6797] +synonym: "benign eccrine tumour" EXACT OMO:0003005 [] +synonym: "benign eccrine tumour of skin" EXACT OMO:0003005 [] +synonym: "benign eccrine tumour of the skin" EXACT OMO:0003005 [] synonym: "benign skin tumor with eccrine differentiation" EXACT [] +synonym: "benign skin tumour with eccrine differentiation" EXACT OMO:0003005 [] synonym: "eccrine sweat gland neoplasm, benign" EXACT [MONDO:patterns/benign] xref: NCIT:C6797 {source="MONDO:equivalentTo"} xref: SCTID:254715009 {source="MONDO:equivalentTo"} @@ -408049,6 +413773,7 @@ synonym: "glandular cell epithelial neoplasm" EXACT [NCIT:C7132] synonym: "glandular cell epithelium neoplasm" EXACT [NCIT:C7132] synonym: "glandular cell neoplasm" EXACT [NCIT:C7132] synonym: "glandular cell tumor" EXACT [MONDO:cjm] +synonym: "glandular cell tumour" EXACT OMO:0003005 [] xref: HP:0031493 {source="MONDO:otherHierarchy"} xref: NCIT:C7132 {source="MONDO:equivalentTo"} xref: UMLS:C1333820 {source="NCIT:C7132", source="MONDO:equivalentTo"} @@ -408119,6 +413844,7 @@ name: mucinous ovarian cancer def: "An invasive malignant neoplasm that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract. It includes mucinous adenocarcinoma and mucinous adenocarcinofibroma." [NCIT:C40033] synonym: "malignant ovarian mucinous neoplasm" EXACT [NCIT:C40033] synonym: "malignant ovarian mucinous tumor" EXACT [NCIT:C40033] +synonym: "malignant ovarian mucinous tumour" EXACT OMO:0003005 [] synonym: "ovarian mucinous neoplasm, malignant" EXACT [MONDO:patterns/malignant] xref: NCIT:C40033 {source="MONDO:equivalentTo"} xref: NCIT:C5242 {source="ONCOTREE:MOV"} @@ -408169,6 +413895,7 @@ name: benign blood vessel neoplasm def: "A benign neoplasm arising from arteries or veins." [NCIT:C8537] synonym: "benign blood vessel neoplasm" EXACT [NCIT:C8537] synonym: "benign blood vessel tumor" EXACT [NCIT:C8537] +synonym: "benign blood vessel tumour" EXACT OMO:0003005 [] xref: DOID:60006 {source="MONDO:equivalentTo"} xref: NCIT:C8537 {source="MONDO:equivalentTo"} xref: UMLS:C0685121 {source="MONDO:equivalentTo", source="NCIT:C8537"} @@ -408293,16 +414020,22 @@ synonym: "neoplasms, vascular" EXACT [NCIT:C7388] synonym: "tumor of vascular system" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of vascular tissue" EXACT [NCIT:C7388] synonym: "tumors, vascular" EXACT [NCIT:C7388] +synonym: "tumour of vascular system" EXACT OMO:0003005 [] +synonym: "tumour of vascular tissue" EXACT OMO:0003005 [] synonym: "vascular neoplasm" EXACT [NCIT:C7388] synonym: "vascular neoplasms" EXACT [NCIT:C7388] synonym: "vascular system neoplasm" EXACT [] synonym: "vascular system neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "vascular system tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "vascular system tumour" EXACT OMO:0003005 [] synonym: "vascular tissue neoplasm" EXACT [NCIT:C7388] synonym: "vascular tissue tumor" EXACT [NCIT:C7388] +synonym: "vascular tissue tumour" EXACT OMO:0003005 [] synonym: "vascular tumor" EXACT [NCIT:C7388] synonym: "vascular tumor, NOS" RELATED EXCLUDE [NCIT:C7388] synonym: "vascular tumors" EXACT [NCIT:C7388] +synonym: "vascular tumour" EXACT OMO:0003005 [] +synonym: "vascular tumours" EXACT OMO:0003005 [] xref: NCIT:C7388 {source="MONDO:equivalentTo"} xref: UMLS:C0027668 {source="NCIT:C7388", source="MONDO:notFoundInDiseaseSubset"} intersection_of: MONDO:0005070 ! neoplasm @@ -408625,8 +414358,10 @@ synonym: "internal Ear neoplasm" EXACT [NCIT:C39784] synonym: "internal ear neoplasm" EXACT [] synonym: "internal ear neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "internal ear tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "internal ear tumour" EXACT OMO:0003005 [] synonym: "neoplasm of internal ear" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of internal ear" EXACT [MONDO:patterns/neoplasm] +synonym: "tumour of internal ear" EXACT OMO:0003005 [] xref: NCIT:C39784 {source="MONDO:equivalentTo"} xref: UMLS:C1512779 {source="NCIT:C39784", source="MONDO:equivalentTo"} is_a: MONDO:0002467 {source="MONDO:Redundant", source="NCIT:C39784"} ! inner ear disorder @@ -408691,6 +414426,7 @@ def: "A rare benign neoplasm that arises from the mesothelial cells of the pleur synonym: "benign mesothelioma of pleura" EXACT [NCIT:C4499] synonym: "benign mesothelioma of the pleura" EXACT [NCIT:C4499] synonym: "pleura adenomatoid tumor" EXACT [MONDO:patterns/location] +synonym: "pleura adenomatoid tumour" EXACT OMO:0003005 [] synonym: "pleural adenomatoid tumor" EXACT [NCIT:C4499] synonym: "pleural benign mesothelioma" EXACT [NCIT:C4499] synonym: "pleural mesothelioma, benign" EXACT [NCIT:C4499] @@ -408840,10 +414576,12 @@ def: "A neoplasm involving a urothelium." [MONDO:patterns/neoplasm] synonym: "neoplasm of urothelium" EXACT [MONDO:patterns/neoplasm] synonym: "transitional cell neoplasm of the urinary tract" EXACT [NCIT:C39852] synonym: "tumor of urothelium" EXACT [MONDO:patterns/neoplasm] +synonym: "tumour of urothelium" EXACT OMO:0003005 [] synonym: "urothelial neoplasm" EXACT [NCIT:C39852] synonym: "urothelium neoplasm" EXACT [] synonym: "urothelium neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "urothelium tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "urothelium tumour" EXACT OMO:0003005 [] xref: NCIT:C39852 {source="MONDO:equivalentTo"} xref: UMLS:C1519840 {source="NCIT:C39852", source="MONDO:equivalentTo"} is_a: MONDO:0021066 {source="MONDO:Redundant", source="NCIT:C39852"} ! urinary system neoplasm @@ -408858,6 +414596,7 @@ id: MONDO:0024338 name: mucinous neoplasm synonym: "mucinous neoplasm" EXACT [NCIT:C7070] synonym: "mucinous tumor" EXACT [NCIT:C7070] +synonym: "mucinous tumour" EXACT OMO:0003005 [] xref: NCIT:C7070 {source="MONDO:equivalentTo"} xref: UMLS:C1334811 {source="MONDO:equivalentTo", source="NCIT:C7070"} is_a: MONDO:0024276 {source="NCIT:C7070"} ! glandular cell neoplasm @@ -408869,8 +414608,10 @@ def: "A neoplasm involving a lymph node." [MONDO:patterns/neoplasm] synonym: "lymph node neoplasm" EXACT [NCIT:C35497] synonym: "lymph node neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "lymph node tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "lymph node tumour" EXACT OMO:0003005 [] synonym: "neoplasm of lymph node" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of lymph node" EXACT [MONDO:patterns/neoplasm] +synonym: "tumour of lymph node" EXACT OMO:0003005 [] xref: NCIT:C35497 {source="MONDO:equivalentTo"} xref: UMLS:C0596869 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C35497"} is_a: MONDO:0002334 {source="NCIT:C35497"} ! hematopoietic and lymphoid system neoplasm @@ -408897,6 +414638,7 @@ name: retinal cell neoplasm def: "A neoplasm arising from the neural retina. This category includes retinoblastoma and retinocytoma." [] synonym: "retinal cell neoplasm" EXACT [NCIT:C7061] synonym: "retinal cell tumor" EXACT [NCIT:C7061] +synonym: "retinal cell tumour" EXACT OMO:0003005 [] synonym: "retinal neural cell neoplasm" EXACT [NCIT:C7061] xref: NCIT:C7061 {source="MONDO:equivalentTo"} xref: UMLS:C1335765 {source="MONDO:equivalentTo", source="NCIT:C7061"} @@ -409216,10 +414958,13 @@ name: benign ovarian sex cord-stromal tumor def: "A sex cord-stromal tumor arising from the ovary, without metastatic potential." [NCIT:C6803] synonym: "benign ovarian Sex cord-stromal neoplasm" EXACT [NCIT:C6803] synonym: "benign ovarian Sex cord-stromal tumor" EXACT [NCIT:C6803] +synonym: "benign ovarian Sex cord-stromal tumour" EXACT OMO:0003005 [] synonym: "benign Sex cord-stromal neoplasm of ovary" EXACT [NCIT:C6803] synonym: "benign Sex cord-stromal neoplasm of the ovary" EXACT [NCIT:C6803] synonym: "benign Sex cord-stromal tumor of ovary" EXACT [NCIT:C6803] synonym: "benign Sex cord-stromal tumor of the ovary" EXACT [NCIT:C6803] +synonym: "benign Sex cord-stromal tumour of ovary" EXACT OMO:0003005 [] +synonym: "benign Sex cord-stromal tumour of the ovary" EXACT OMO:0003005 [] synonym: "ovarian SEX cord-stromal tumor, benign" EXACT [NCIT:C6803] synonym: "ovarian sex cord-stromal tumor, benign" EXACT [MONDO:patterns/benign] synonym: "Sex cord stromal tumor, benign" EXACT [NCIT:C6803] @@ -409520,6 +415265,7 @@ synonym: "autosomal dominant Robinow syndrome caused by mutation in WNT5A" EXACT synonym: "DRS1" EXACT ABBREVIATION [OMIM:180700] synonym: "dysostosis acral with facial and genital abnormalities" EXACT [MONDO:0023031] synonym: "fetal face syndrome" RELATED [OMIM:180700] +synonym: "foetal face syndrome" RELATED OMO:0003005 [] synonym: "Robinow dwarfism" RELATED [OMIM:180700] synonym: "Robinow syndrome, autosomal dominant 1" EXACT [OMIM:180700] synonym: "WNT5A autosomal dominant Robinow syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -409785,14 +415531,19 @@ name: chondrogenic neoplasm def: "A benign, intermediate, or malignant cartilaginous matrix-producing neoplasm. Representative examples include osteochondroma, chondroblastoma, and chondrosarcoma." [NCIT:C4755] synonym: "cartilaginous neoplasm" EXACT [NCIT:C4755] synonym: "cartilaginous tumor" EXACT [NCIT:C4755] +synonym: "cartilaginous tumour" EXACT OMO:0003005 [] synonym: "chondrogenic neoplasm" EXACT [NCIT:C4755] synonym: "chondrogenic tumor" EXACT [NCIT:C4755] +synonym: "chondrogenic tumour" EXACT OMO:0003005 [] synonym: "chondromatous neoplasm" EXACT [NCIT:C4755] synonym: "chondromatous tumor" EXACT [NCIT:C4755] +synonym: "chondromatous tumour" EXACT OMO:0003005 [] synonym: "neoplasm of cartilage" EXACT [NCIT:C4755] synonym: "neoplasm of the cartilage" EXACT [NCIT:C4755] synonym: "tumor of cartilage" EXACT [NCIT:C4755] synonym: "tumor of the cartilage" EXACT [NCIT:C4755] +synonym: "tumour of cartilage" EXACT OMO:0003005 [] +synonym: "tumour of the cartilage" EXACT OMO:0003005 [] xref: NCIT:C4755 {source="MONDO:equivalentTo"} xref: UMLS:C0476147 {source="MONDO:equivalentTo", source="NCIT:C4755"} is_a: MONDO:0002616 {source="NCIT:C4755"} ! mesenchymal cell neoplasm @@ -409804,12 +415555,16 @@ name: benign chondrogenic neoplasm def: "A non-metastasizing cartilaginous matrix-producing neoplasm characterized by the presence of neoplastic chondrocytes. Representative examples include osteochondroma and chondroma." [NCIT:C8592] synonym: "benign cartilaginous neoplasm" EXACT [NCIT:C8592] synonym: "benign cartilaginous tumor" EXACT [NCIT:C8592] +synonym: "benign cartilaginous tumour" EXACT OMO:0003005 [] synonym: "benign chondrogenic neoplasm" EXACT [NCIT:C8592] synonym: "benign chondrogenic tumor" EXACT [NCIT:C8592] +synonym: "benign chondrogenic tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of cartilage" EXACT [NCIT:C8592] synonym: "benign neoplasm of the cartilage" EXACT [NCIT:C8592] synonym: "benign tumor of cartilage" EXACT [NCIT:C8592] synonym: "benign tumor of the cartilage" EXACT [NCIT:C8592] +synonym: "benign tumour of cartilage" EXACT OMO:0003005 [] +synonym: "benign tumour of the cartilage" EXACT OMO:0003005 [] synonym: "chondrogenic neoplasm, benign" EXACT [MONDO:patterns/benign] xref: NCIT:C8592 {source="MONDO:equivalentTo"} xref: SCTID:722690001 {source="MONDO:equivalentTo"} @@ -409913,6 +415668,7 @@ name: epithelial neoplasm of rectum def: "A epithelial neoplasm that involves the rectum." [MONDO:patterns/location] synonym: "rectal epithelial neoplasm" EXACT [] synonym: "rectal epithelial tumor" EXACT [] +synonym: "rectal epithelial tumour" EXACT OMO:0003005 [] synonym: "rectum epithelial neoplasm" EXACT [MONDO:patterns/location] intersection_of: MONDO:0005626 ! epithelial neoplasm intersection_of: disease_has_location UBERON:0001052 ! rectum @@ -409928,8 +415684,10 @@ synonym: "liver and intrahepatic bile duct neoplasm" EXACT [NCIT:C7103] synonym: "liver neoplasm" EXACT [MONDO:0004721] synonym: "liver neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "liver tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "liver tumour" EXACT OMO:0003005 [] synonym: "neoplasm of liver" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of liver" EXACT [MONDO:patterns/neoplasm] +synonym: "tumour of liver" EXACT OMO:0003005 [] xref: DOID:916 {source="MONDO:equivalentTo"} xref: EFO:1001513 {source="MONDO:equivalentTo"} xref: NCIT:C12392 {source="ONCOTREE:LIVER"} @@ -410188,13 +415946,17 @@ name: vascular bone neoplasm def: "A benign, intermediate, or malignant vascular neoplasm that arises from the bone." [NCIT:C6478] synonym: "bone vascular neoplasm" EXACT [NCIT:C6478] synonym: "bone vascular tumor" EXACT [NCIT:C6478] +synonym: "bone vascular tumour" EXACT OMO:0003005 [] synonym: "osseous vascular neoplasm" EXACT [NCIT:C6478] synonym: "osseous vascular tumor" EXACT [NCIT:C6478] +synonym: "osseous vascular tumour" EXACT OMO:0003005 [] synonym: "vascular bone neoplasm" EXACT [NCIT:C6478] synonym: "vascular neoplasm of bone" EXACT [NCIT:C6478] synonym: "vascular neoplasm of the bone" EXACT [NCIT:C6478] synonym: "vascular tumor of bone" EXACT [NCIT:C6478] synonym: "vascular tumor of the bone" EXACT [NCIT:C6478] +synonym: "vascular tumour of bone" EXACT OMO:0003005 [] +synonym: "vascular tumour of the bone" EXACT OMO:0003005 [] xref: NCIT:C6478 {source="MONDO:equivalentTo"} xref: UMLS:C1336946 {source="MONDO:equivalentTo", source="NCIT:C6478"} is_a: MONDO:0024296 {source="MONDO:Entailed", source="NCIT:C6478"} ! vascular neoplasm @@ -410209,6 +415971,7 @@ synonym: "duodenum NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "duodenum neuroendocrine neoplasm" EXACT [MONDO:patterns/location] synonym: "duodenum neuroendocrine tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "duodenum neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm] +synonym: "duodenum neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "neuroendocrine neoplasm of duodenum" EXACT [MONDO:patterns/neuroendocrine_neoplasm] intersection_of: MONDO:0019496 ! neuroendocrine neoplasm intersection_of: disease_has_location UBERON:0002114 ! duodenum @@ -410223,6 +415986,7 @@ synonym: "vermiform appendix NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "vermiform appendix neuroendocrine neoplasm" EXACT [MONDO:patterns/location] synonym: "vermiform appendix neuroendocrine tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "vermiform appendix neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm] +synonym: "vermiform appendix neuroendocrine tumour" EXACT OMO:0003005 [] xref: NCIT:C60709 {source="MONDO:equivalentTo"} xref: UMLS:C1879718 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C60709"} is_a: MONDO:0001236 {source="MONDO:Redundant", source="NCIT:C60709"} ! appendiceal neoplasm @@ -410237,6 +416001,7 @@ synonym: "gall bladder NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "gall bladder neuroendocrine neoplasm" EXACT [MONDO:patterns/location] synonym: "gall bladder neuroendocrine tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "gall bladder neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm] +synonym: "gall bladder neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "gallbladder neuroendocrine neoplasm" EXACT [NCIT:C96917] synonym: "neuroendocrine neoplasm of gall bladder" EXACT [MONDO:design_pattern, MONDO:patterns/neuroendocrine_neoplasm] xref: NCIT:C96917 {source="MONDO:equivalentTo"} @@ -410256,18 +416021,25 @@ synonym: "alimentary part of gastrointestinal system NET" EXACT [MONDO:patterns/ synonym: "alimentary part of gastrointestinal system neuroendocrine neoplasm" EXACT [MONDO:patterns/location] synonym: "alimentary part of gastrointestinal system neuroendocrine tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "alimentary part of gastrointestinal system neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm] +synonym: "alimentary part of gastrointestinal system neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "carcinoid tumor" RELATED [PMID:24714698, Wikipedia:Neuroendocrine_tumor#Gastroenteropancreatic_neuroendocrine_tumors_(GEP-NET)] synonym: "carcinoid tumor of digestive system" EXACT [MONDO:cjm] +synonym: "carcinoid tumour" RELATED OMO:0003005 [] +synonym: "carcinoid tumour of digestive system" EXACT OMO:0003005 [] synonym: "digestive system NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "digestive system neuroendocrine neoplasm" EXACT [MONDO:patterns/location, NCIT:C27721] synonym: "digestive system neuroendocrine tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "digestive system neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm] +synonym: "digestive system neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "gastro-enteropancreatic neuroendocrine tumor" EXACT [MONDO:0023217] +synonym: "gastro-enteropancreatic neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "gastroenteropancreatic endocrine tumor" EXACT [Orphanet:100092] +synonym: "gastroenteropancreatic endocrine tumour" EXACT OMO:0003005 [] synonym: "gastroenteropancreatic neuroendocrine neoplasm" EXACT [GARD:0002437, NCIT:C27721] synonym: "gastrointestinal neuroendocrine neoplasm" EXACT [NCIT:C27721] synonym: "gastrointestinal system neuroendocrine neoplasm" EXACT [NCIT:C27721] synonym: "GEP tumors" RELATED [GARD:0002437] +synonym: "GEP tumours" RELATED OMO:0003005 [] synonym: "GEP-NEN" RELATED [Orphanet:100092] synonym: "GEP-NET" RELATED [Orphanet:100092] synonym: "neuroendocrine neoplasm of alimentary part of gastrointestinal system" EXACT [MONDO:design_pattern, MONDO:patterns/neuroendocrine_neoplasm] @@ -410293,18 +416065,27 @@ synonym: "carcinoid neoplasm of pancreas" EXACT [NCIT:C4446] synonym: "carcinoid neoplasm of the pancreas" EXACT [NCIT:C4446] synonym: "carcinoid tumor of pancreas" EXACT [NCIT:C4446] synonym: "carcinoid tumor of the pancreas" EXACT [NCIT:C4446] +synonym: "carcinoid tumour of pancreas" EXACT OMO:0003005 [] +synonym: "carcinoid tumour of the pancreas" EXACT OMO:0003005 [] synonym: "EC cell, serotonin producing pancreatic NET" EXACT [NCIT:C4446] synonym: "EC cell, serotonin producing pancreatic neuroendocrine tumor" EXACT [NCIT:C4446] +synonym: "EC cell, serotonin producing pancreatic neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor" EXACT [NCIT:C4446] synonym: "pancreatic carcinoid tumor" EXACT [NCIT:C4446] +synonym: "pancreatic carcinoid tumour" EXACT OMO:0003005 [] synonym: "pancreatic serotonin producing neoplasm" EXACT [NCIT:C4446] synonym: "pancreatic serotonin producing tumor" EXACT [NCIT:C4446] +synonym: "pancreatic serotonin producing tumour" EXACT OMO:0003005 [] synonym: "serotonin-producing neuroendocrine tumor of pancreas" RELATED [Orphanet:506090] +synonym: "serotonin-producing neuroendocrine tumour of pancreas" RELATED OMO:0003005 [] synonym: "serotonin-producing pancreatic NET" EXACT [Orphanet:506090] synonym: "serotonin-producing pancreatic neuroendocrine tumor" EXACT [Orphanet:506090] +synonym: "serotonin-producing pancreatic neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "serotonin-producing PNET" EXACT [Orphanet:506090] synonym: "serotonin-producing tumor of pancreas" EXACT [NCIT:C4446] synonym: "serotonin-producing tumor of the pancreas" EXACT [NCIT:C4446] +synonym: "serotonin-producing tumour of pancreas" EXACT OMO:0003005 [] +synonym: "serotonin-producing tumour of the pancreas" EXACT OMO:0003005 [] xref: NCIT:C4446 {source="MONDO:equivalentTo"} xref: Orphanet:506090 {source="MONDO:equivalentTo"} xref: UMLS:C0345933 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C4446"} @@ -410481,6 +416262,7 @@ def: "Any primary cutaneous amyloidosis in which the cause of the disease is a m synonym: "amyloidosis 9" EXACT [GARD:0000132, OMIM:105250] synonym: "amyloidosis, familial cutaneous lichen" RELATED [OMIM:105250] synonym: "amyloidosis, primary cutaneous, 1" EXACT [OMIM:105250] +synonym: "amyloidosis, primary localised cutaneous, type 1" EXACT OMO:0003005 [] synonym: "amyloidosis, primary localized cutaneous, 1" EXACT [MONDO:Lexical, OMIM:105250] synonym: "amyloidosis, primary localized cutaneous, type 1" EXACT [MONDORULE:1, OMIM:105250] synonym: "lichen amyloidosis, familial" RELATED [OMIM:105250] @@ -411049,6 +416831,8 @@ def: "Any peeling skin syndrome in which the cause of the disease is a mutation subset: ordo_clinical_subtype {source="Orphanet:263553"} synonym: "CDSN peeling skin syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "deciduous skin" RELATED [OMIM:270300] +synonym: "generalised deciduous skin type B" EXACT OMO:0003005 [] +synonym: "generalised peeling skin syndrome type B" EXACT OMO:0003005 [] synonym: "generalized deciduous skin type B" EXACT [Orphanet:263553] synonym: "generalized peeling skin syndrome type B" EXACT [Orphanet:263553] synonym: "inflammatory peeling skin syndrome" EXACT [Orphanet:263553] @@ -411059,6 +416843,7 @@ synonym: "peeling skin syndrome type B" EXACT [MONDO:0016992] synonym: "PSS" RELATED ABBREVIATION [OMIM:270300] synonym: "PSS type B" EXACT [Orphanet:263553] synonym: "PSS1" RELATED ABBREVIATION [OMIM:270300] +synonym: "skin peeling, familial continuous generalised" RELATED OMO:0003005 [] synonym: "skin peeling, familial continuous generalized" RELATED [OMIM:270300] xref: ICD10CM:Q80.8 {source="Orphanet:263553", source="Orphanet:263553/attributed", source="Orphanet:263553/ntbt"} xref: OMIM:270300 {source="MONDO:equivalentTo", source="Orphanet:263553", source="Orphanet:263553/ntbt"} @@ -411169,10 +416954,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0024553 name: myopathy, lactic acidosis, and sideroblastic anemia 1 def: "Any myopathy, lactic acidosis, and sideroblastic anemia in which the cause of the disease is a mutation in the PUS1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "mitochondrial myopathy and sideroblastic anaemia" RELATED OMO:0003005 [] synonym: "mitochondrial myopathy and sideroblastic anemia" RELATED [OMIM:600462] synonym: "MLASA1" RELATED ABBREVIATION [OMIM:600462] +synonym: "myopathy, lactic acidosis, and sideroblastic anaemia caused by mutation in PUS1" EXACT OMO:0003005 [] synonym: "myopathy, lactic acidosis, and sideroblastic anemia 1" EXACT [OMIM:600462] synonym: "myopathy, lactic acidosis, and sideroblastic anemia caused by mutation in PUS1" EXACT [MONDO:design_pattern] +synonym: "PUS1 myopathy, lactic acidosis, and sideroblastic anaemia" EXACT OMO:0003005 [] synonym: "PUS1 myopathy, lactic acidosis, and sideroblastic anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111185 {source="MONDO:equivalentTo"} xref: OMIM:600462 {source="MONDO:equivalentTo"} @@ -411608,14 +417396,19 @@ name: male reproductive system neoplasm def: "A benign, borderline, or malignant neoplasm that affects the male reproductive system. Representative examples include benign prostate phyllodes tumor, benign testicular Sertoli cell tumor, prostatic intraepithelial neoplasia, prostate carcinoma, testicular seminoma, and testicular embryonal carcinoma." [NCIT:C3054] synonym: "male reproductive organ neoplasm" EXACT [] synonym: "male reproductive organ tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "male reproductive organ tumour" EXACT OMO:0003005 [] synonym: "Male reproductive system neoplasm" EXACT [NCIT:C3054] synonym: "Male reproductive system tumor" EXACT [NCIT:C3054] +synonym: "Male reproductive system tumour" EXACT OMO:0003005 [] synonym: "neoplasm of male reproductive organ" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of Male reproductive system" EXACT [NCIT:C3054] synonym: "neoplasm of the Male reproductive system" EXACT [NCIT:C3054] synonym: "tumor of male reproductive organ" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of Male reproductive system" EXACT [NCIT:C3054] synonym: "tumor of the Male reproductive system" EXACT [NCIT:C3054] +synonym: "tumour of male reproductive organ" EXACT OMO:0003005 [] +synonym: "tumour of Male reproductive system" EXACT OMO:0003005 [] +synonym: "tumour of the Male reproductive system" EXACT OMO:0003005 [] xref: ICD10CM:C60-C63 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C3054 {source="MONDO:equivalentTo"} @@ -411735,13 +417528,19 @@ synonym: "neoplasm of the orbit" EXACT [NCIT:C3290] synonym: "orbit neoplasm" EXACT [NCIT:C3290] synonym: "orbit of skull neoplasm" EXACT [] synonym: "orbit of skull tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "orbit of skull tumour" EXACT OMO:0003005 [] synonym: "orbit tumor" EXACT [NCIT:C3290] +synonym: "orbit tumour" EXACT OMO:0003005 [] synonym: "orbital neoplasm" EXACT [NCIT:C3290] synonym: "orbital neoplasms" EXACT [NCIT:C3290] synonym: "orbital tumor" EXACT [NCIT:C3290] +synonym: "orbital tumour" EXACT OMO:0003005 [] synonym: "tumor of orbit" EXACT [NCIT:C3290] synonym: "tumor of orbit of skull" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of the orbit" EXACT [NCIT:C3290] +synonym: "tumour of orbit" EXACT OMO:0003005 [] +synonym: "tumour of orbit of skull" EXACT OMO:0003005 [] +synonym: "tumour of the orbit" EXACT OMO:0003005 [] xref: NCIT:C3290 {source="MONDO:equivalentTo"} xref: UMLS:C0029185 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C3290"} intersection_of: MONDO:0005070 ! neoplasm @@ -412066,8 +417865,11 @@ synonym: "malignant neoplasm of soft tissue" EXACT [NCIT:C4867] synonym: "malignant neoplasm of the soft tissue" EXACT [NCIT:C4867] synonym: "malignant soft tissue neoplasm" EXACT [NCIT:C4867] synonym: "malignant soft tissue tumor" EXACT [NCIT:C4867] +synonym: "malignant soft tissue tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of soft tissue" EXACT [NCIT:C4867] synonym: "malignant tumor of the soft tissue" EXACT [NCIT:C4867] +synonym: "malignant tumour of soft tissue" EXACT OMO:0003005 [] +synonym: "malignant tumour of the soft tissue" EXACT OMO:0003005 [] xref: ICD10CM:C45-C49 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: NCIT:C4867 {source="MONDO:equivalentTo"} xref: SCTID:269469005 {source="MONDO:equivalentTo"} @@ -412093,6 +417895,7 @@ name: gastric enterochromaffin cell serotonin-producing neuroendocrine tumor def: "A well differentiated neuroendocrine tumor that arises from the stomach. It produces serotonin and it may occasionally be found in association with a carcinoid syndrome." [NCIT:C27443] synonym: "gastric EC cell serotonin-producing NET" EXACT [NCIT:C27443] synonym: "gastric EC-cell serotonin-producing neuroendocrine tumor" EXACT [NCIT:C27443] +synonym: "gastric EC-cell serotonin-producing neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "gastric enterochromaffin cell serotonin-producing neuroendocrine tumor" EXACT [NCIT:C27443] xref: NCIT:C27443 {source="MONDO:equivalentTo"} xref: UMLS:C3274137 {source="NCIT:C27443", source="MONDO:equivalentTo"} @@ -412134,17 +417937,25 @@ intersection_of: disease_has_location UBERON:0002349 ! myocardium id: MONDO:0024644 name: myocardial ischemia def: "A disorder of cardiac function caused by insufficient blood flow to the muscle tissue of the heart. The decreased blood flow may be due to narrowing of the coronary arteries (coronary artery disease), to obstruction by a thrombus (coronary thrombosis), or less commonly, to diffuse narrowing of arterioles and other small vessels within the heart. Severe interruption of the blood supply to the myocardial tissue may result in necrosis of cardiac muscle (myocardial infarction)." [MESH:D017202] +synonym: "disease, ischaemic heart" RELATED OMO:0003005 [] synonym: "disease, ischemic heart" RELATED [MESH:D017202] +synonym: "diseases, ischaemic heart" RELATED OMO:0003005 [] synonym: "diseases, ischemic heart" RELATED [MESH:D017202] +synonym: "heart disease, ischaemic" RELATED OMO:0003005 [] synonym: "heart disease, ischemic" RELATED [MESH:D017202] +synonym: "heart diseases, ischaemic" RELATED OMO:0003005 [] synonym: "heart diseases, ischemic" RELATED [MESH:D017202] synonym: "IHD" EXACT ABBREVIATION [NCIT:C50625] +synonym: "ischaemic disease of myocardium" EXACT OMO:0003005 [] +synonym: "ischaemic heart disease" EXACT OMO:0003005 [] +synonym: "ischaemic heart diseases" RELATED OMO:0003005 [] synonym: "ischemia, myocardial" RELATED [MESH:D017202] synonym: "ischemias, myocardial" RELATED [MESH:D017202] synonym: "ischemic disease of myocardium" EXACT [MONDO:design_pattern] synonym: "ischemic heart disease" EXACT [MESH:D017202] synonym: "ischemic heart diseases" RELATED [MESH:D017202] synonym: "myocardial Ischemias" RELATED [MESH:D017202] +synonym: "myocardium ischaemic disease" EXACT OMO:0003005 [] synonym: "myocardium ischemic disease" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: EFO:1001375 {source="MONDO:equivalentTo"} xref: ICD10CM:I20-I25 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} @@ -412167,7 +417978,9 @@ synonym: "neoplasm of retroperitoneal space" EXACT [MONDO:patterns/neoplasm] synonym: "retroperitoneal neoplasm" EXACT [NCIT:C3357] synonym: "retroperitoneal space neoplasm" EXACT [] synonym: "retroperitoneal space tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "retroperitoneal space tumour" EXACT OMO:0003005 [] synonym: "tumor of retroperitoneal space" EXACT [MONDO:patterns/neoplasm] +synonym: "tumour of retroperitoneal space" EXACT OMO:0003005 [] xref: NCIT:C3357 {source="MONDO:equivalentTo"} xref: UMLS:C0035358 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C3357"} is_a: MONDO:0005070 ! neoplasm @@ -412271,8 +418084,11 @@ synonym: "neoplasm of skull" EXACT [MONDO:patterns/neoplasm, NCIT:C3375] synonym: "neoplasm of the skull" EXACT [NCIT:C3375] synonym: "skull neoplasm" EXACT [NCIT:C3375] synonym: "skull tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3375] +synonym: "skull tumour" EXACT OMO:0003005 [] synonym: "tumor of skull" EXACT [MONDO:patterns/neoplasm, NCIT:C3375] synonym: "tumor of the skull" EXACT [NCIT:C3375] +synonym: "tumour of skull" EXACT OMO:0003005 [] +synonym: "tumour of the skull" EXACT OMO:0003005 [] xref: ICD9:239.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D012888 {source="MONDO:equivalentTo"} xref: NCIT:C3375 {source="MONDO:equivalentTo"} @@ -412458,8 +418274,10 @@ name: benign epithelial skin neoplasm def: "A form of epithelial skin neoplasm without malignant characteristics." [MONDO:patterns/benign] synonym: "benign epithelial skin neoplasm" EXACT [NCIT:C7341] synonym: "benign epithelial skin tumor" EXACT [NCIT:C7341] +synonym: "benign epithelial skin tumour" EXACT OMO:0003005 [] synonym: "benign skin epithelium neoplasm" EXACT [NCIT:C7341] synonym: "benign skin epithelium tumor" EXACT [NCIT:C7341] +synonym: "benign skin epithelium tumour" EXACT OMO:0003005 [] synonym: "epithelial skin neoplasm, benign" EXACT [MONDO:patterns/benign] xref: NCIT:C7341 {source="MONDO:equivalentTo"} xref: UMLS:C0345981 {source="NCIT:C7341", source="MONDO:equivalentTo"} @@ -412486,6 +418304,7 @@ name: Pancoast syndrome def: "A rare neoplastic syndrome characterized by obstruction of the thoracic outlet leading to compression of the brachial plexus and vessels within. It is usually caused by a malignant neoplasm in the superior pulmonary sulcus. The most commonly involved neoplasms are non-small cell lung carcinomas. Clinical signs include Horner's syndrome, shoulder pain radiating down the arm in the ulnar distribution followed by edema and atrophy of the affected extremity. Clinical course usually leads to early local invasion of the bony thoracic structures. Prognosis is highly stage-dependent." [NCIT:C55815] synonym: "Pancoast syndrome" EXACT [NCIT:C55815] synonym: "Pancoast tumor" RELATED [MESH:D010178] +synonym: "Pancoast tumour" RELATED OMO:0003005 [] synonym: "Pancoast's syndrome" EXACT [] synonym: "Pancoasts syndrome" RELATED [MESH:D010178] synonym: "superior pulmonary sulcus syndrome" RELATED [] @@ -412510,8 +418329,11 @@ synonym: "adult kidney Wilms tumor" EXACT [NCIT:C6180] synonym: "adult nephroblastoma" EXACT [NCIT:C6180] synonym: "adult renal adenosarcoma" EXACT [NCIT:C6180] synonym: "adult renal Wilms tumor" EXACT [NCIT:C6180] +synonym: "adult renal Wilms tumour" EXACT OMO:0003005 [] synonym: "adult renal Wilms' tumor" EXACT [NCIT:C6180] +synonym: "adult renal Wilms' tumour" EXACT OMO:0003005 [] synonym: "kidney Wilms tumor of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] +synonym: "kidney Wilms tumour of adults" EXACT OMO:0003005 [] xref: NCIT:C6180 {source="MONDO:equivalentTo"} xref: UMLS:C1332219 {source="MONDO:equivalentTo", source="NCIT:C6180"} is_a: MONDO:0019004 {source="MONDO:Redundant", source="NCIT:C6180"} ! kidney Wilms tumor @@ -412524,10 +418346,15 @@ name: childhood kidney Wilms tumor def: "A Wilms tumor of the kidney which occurs in children." [NCIT:C27730] synonym: "childhood kidney Wilms tumor" EXACT [NCIT:C27730] synonym: "childhood renal Wilms tumor" EXACT [NCIT:C27730] +synonym: "childhood renal Wilms tumour" EXACT OMO:0003005 [] synonym: "childhood renal Wilms' tumor" EXACT [NCIT:C27730] +synonym: "childhood renal Wilms' tumour" EXACT OMO:0003005 [] synonym: "childhood Wilms tumor" EXACT [NCIT:C27730] +synonym: "childhood Wilms tumour" EXACT OMO:0003005 [] synonym: "kidney Wilms tumor" BROAD [NCIT:C27730] +synonym: "kidney Wilms tumour" BROAD OMO:0003005 [] synonym: "Wilms tumor" BROAD [NCIT:C27730] +synonym: "Wilms tumour" BROAD OMO:0003005 [] xref: NCIT:C27730 {source="MONDO:equivalentTo"} xref: UMLS:C1333015 {source="NCIT:C27730", source="MONDO:equivalentTo"} is_a: MONDO:0002730 {source="NCIT:C27730"} ! childhood kidney neoplasm @@ -412544,13 +418371,18 @@ synonym: "adenoma, beta cell" RELATED [MESH:D007340] synonym: "adenoma, beta-cell" RELATED [MESH:D007340] synonym: "adenomas, beta-cell" RELATED [MESH:D007340] synonym: "beta cell tumor" RELATED [MESH:D007340] +synonym: "beta cell tumour" RELATED OMO:0003005 [] synonym: "beta-cell adenoma" RELATED [MESH:D007340] synonym: "beta-cell adenomas" RELATED [MESH:D007340] synonym: "beta-cell tumor" RELATED [MESH:D007340] synonym: "beta-cell tumors" RELATED [MESH:D007340] +synonym: "beta-cell tumour" RELATED OMO:0003005 [] +synonym: "beta-cell tumours" RELATED OMO:0003005 [] synonym: "insulin-producing tumor of islet cells" RELATED EXCLUDE [DOID:3892] +synonym: "insulin-producing tumour of islet cells" RELATED OMO:0003005 [] synonym: "insulinoma" EXACT [NCIT:C95598] synonym: "insulinoma tumor suppressor GENE locus" RELATED [MESH:D007340] +synonym: "insulinoma tumour suppressor GENE locus" RELATED OMO:0003005 [] synonym: "Insulinomas" RELATED [MESH:D007340] synonym: "insuloma" RELATED [MESH:D007340] synonym: "Insulomas" RELATED [MESH:D007340] @@ -412576,13 +418408,20 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0024685 name: Philadelphia-positive myelogenous leukemia +synonym: "Ph1-positive granulocytic leukaemia" EXACT OMO:0003005 [] synonym: "Ph1-positive granulocytic leukemia" EXACT [NCIT:C3177] +synonym: "Ph1-positive myelocytic leukaemia" EXACT OMO:0003005 [] synonym: "Ph1-positive myelocytic leukemia" EXACT [NCIT:C3177] +synonym: "Ph1-positive myelogenous leukaemia" EXACT OMO:0003005 [] synonym: "Ph1-positive myelogenous leukemia" EXACT [NCIT:C3177] +synonym: "Ph1-positive myeloid leukaemia" EXACT OMO:0003005 [] synonym: "Ph1-positive myeloid leukemia" EXACT [NCIT:C3177] +synonym: "Philadelphia-positive granulocytic leukaemia" EXACT OMO:0003005 [] synonym: "Philadelphia-positive granulocytic leukemia" EXACT [NCIT:C3177] +synonym: "Philadelphia-positive myelocytic leukaemia" EXACT OMO:0003005 [] synonym: "Philadelphia-positive myelocytic leukemia" EXACT [NCIT:C3177] synonym: "Philadelphia-positive myelogenous leukemia" EXACT [NCIT:C3177] +synonym: "Philadelphia-positive myeloid leukaemia" EXACT OMO:0003005 [] synonym: "Philadelphia-positive myeloid leukemia" EXACT [NCIT:C3177] xref: NCIT:C3177 {source="MONDO:equivalentTo"} xref: UMLS:C0023476 {source="MONDO:equivalentTo", source="NCIT:C3177"} @@ -412600,17 +418439,26 @@ synonym: "diffuse giant cell neoplasm of the Tenosynovium" EXACT [NCIT:C3401] synonym: "diffuse giant cell tumor of tendon sheath" EXACT [NCIT:C3401] synonym: "diffuse giant cell tumor of Tenosynovium" EXACT [DOID:2702, NCIT:C3401] synonym: "diffuse giant cell tumor of the Tenosynovium" EXACT [NCIT:C3401] +synonym: "diffuse giant cell tumour of tendon sheath" EXACT OMO:0003005 [] +synonym: "diffuse giant cell tumour of Tenosynovium" EXACT OMO:0003005 [] +synonym: "diffuse giant cell tumour of the Tenosynovium" EXACT OMO:0003005 [] synonym: "diffuse pigmented villonodular synovitis" NARROW [GARD:0007396] synonym: "diffuse tenosynovial giant cell neoplasm" EXACT [NCIT:C3401] synonym: "diffuse tenosynovial giant cell tumor" EXACT [NCIT:C3401] +synonym: "diffuse tenosynovial giant cell tumour" EXACT OMO:0003005 [] synonym: "diffuse-type GCT" NARROW [Orphanet:66627] synonym: "diffuse-type giant cell tumor" NARROW [Orphanet:66627] +synonym: "diffuse-type giant cell tumour" NARROW OMO:0003005 [] +synonym: "localised pigmented villonodular synovitis" NARROW OMO:0003005 [] synonym: "localized pigmented villonodular synovitis" NARROW [GARD:0007396] synonym: "pigmented villonodular synovitis" EXACT [NCIT:C3401] synonym: "tenosynovial giant cell tumor" RELATED [Orphanet:66627] synonym: "tenosynovial giant cell tumor diffuse type" RELATED [ONCOTREE:TGCT] synonym: "tenosynovial giant cell tumor, diffuse type" EXACT [NCIT:C3401] synonym: "tenosynovial giant cell tumors" RELATED [GARD:0007396] +synonym: "tenosynovial giant cell tumour" RELATED OMO:0003005 [] +synonym: "tenosynovial giant cell tumour diffuse type" RELATED OMO:0003005 [] +synonym: "tenosynovial giant cell tumours" RELATED OMO:0003005 [] synonym: "TGCT" EXACT ABBREVIATION [Orphanet:66627] synonym: "TSGCT" EXACT ABBREVIATION [Orphanet:66627] synonym: "villonodular synovitis" RELATED [DOID:9898] @@ -412655,6 +418503,7 @@ def: "A mixed epithelial stromal tumor of the kidney with malignant stromal feat synonym: "malignant MEST" EXACT [NCIT:C37265] synonym: "malignant mixed epithelial stromal tumor of the kidney" EXACT [NCIT:C37265] synonym: "mixed epithelial stromal tumor of the kidney, malignant" EXACT [MONDO:patterns/malignant] +synonym: "mixed epithelial stromal tumour of the kidney, malignant" EXACT OMO:0003005 [] xref: NCIT:C37265 {source="MONDO:equivalentTo"} xref: UMLS:C1334602 {source="NCIT:C37265", source="MONDO:equivalentTo"} is_a: MONDO:0002386 {source="MONDO:Redundant", source="NCIT:C37265"} ! mixed epithelial stromal tumor of the kidney @@ -412670,10 +418519,13 @@ synonym: "benign neoplasm of synovium" EXACT [NCIT:C3829] synonym: "benign neoplasm of the synovium" EXACT [NCIT:C3829] synonym: "benign synovial neoplasm" EXACT [NCIT:C3829] synonym: "benign synovial tumor" EXACT [NCIT:C3829] +synonym: "benign synovial tumour" EXACT OMO:0003005 [] synonym: "benign synovioma" EXACT [NCIT:C3829] synonym: "benign synovium neoplasm" EXACT [] synonym: "benign tumor of synovium" EXACT [NCIT:C3829] synonym: "benign tumor of the synovium" EXACT [NCIT:C3829] +synonym: "benign tumour of synovium" EXACT OMO:0003005 [] +synonym: "benign tumour of the synovium" EXACT OMO:0003005 [] synonym: "synovioma, benign" EXACT [NCIT:C3829] synonym: "synovium neoplasm, benign" EXACT [MONDO:patterns/benign] xref: ICDO:9040/0 {source="NCIT:C3829"} @@ -412690,6 +418542,7 @@ def: "A neoplasm that arises from the choroid plexus in the brain and occurs dur synonym: "childhood choroid plexus neoplasm" EXACT [NCIT:C42080] synonym: "choroid plexus neoplasm" BROAD [NCIT:C42080] synonym: "choroid plexus neoplasm of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] +synonym: "paediatric choroid plexus neoplasm" EXACT OMO:0003005 [] synonym: "pediatric choroid plexus neoplasm" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] xref: NCIT:C42080 {source="MONDO:equivalentTo"} is_a: MONDO:0016717 {source="MONDO:Redundant", source="NCIT:C42080"} ! choroid plexus neoplasm @@ -412715,9 +418568,12 @@ def: "A benign or malignant neoplasm that affects the heart and/or vessels. Repr synonym: "cardiovascular neoplasm" EXACT [NCIT:C4784] synonym: "cardiovascular system neoplasm" EXACT [] synonym: "cardiovascular system tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "cardiovascular system tumour" EXACT OMO:0003005 [] synonym: "cardiovascular tumor" EXACT [NCIT:C4784] +synonym: "cardiovascular tumour" EXACT OMO:0003005 [] synonym: "neoplasm of cardiovascular system" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of cardiovascular system" EXACT [MONDO:patterns/neoplasm] +synonym: "tumour of cardiovascular system" EXACT OMO:0003005 [] xref: NCIT:C4784 {source="MONDO:equivalentTo"} xref: SCTID:721573003 {source="MONDO:equivalentTo"} xref: UMLS:C0497243 {source="NCIT:C4784"} @@ -412789,8 +418645,10 @@ name: adult brain stem neoplasm def: "A brainstem neoplasm that occurs in an adult." [MONDO:design_pattern] synonym: "adult brain stem neoplasm" EXACT [NCIT:C5967] synonym: "adult brain stem tumor" EXACT [NCIT:C5967] +synonym: "adult brain stem tumour" EXACT OMO:0003005 [] synonym: "adult brainstem neoplasm" EXACT [NCIT:C5967] synonym: "adult brainstem tumor" EXACT [NCIT:C5967] +synonym: "adult brainstem tumour" EXACT OMO:0003005 [] synonym: "brainstem neoplasm of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] synonym: "neoplasm of adult brain stem" EXACT [NCIT:C5967] synonym: "neoplasm of adult brainstem" EXACT [NCIT:C5967] @@ -412800,6 +418658,10 @@ synonym: "tumor of adult brain stem" EXACT [NCIT:C5967] synonym: "tumor of adult brainstem" EXACT [NCIT:C5967] synonym: "tumor of the adult brain stem" EXACT [NCIT:C5967] synonym: "tumor of the adult brainstem" EXACT [NCIT:C5967] +synonym: "tumour of adult brain stem" EXACT OMO:0003005 [] +synonym: "tumour of adult brainstem" EXACT OMO:0003005 [] +synonym: "tumour of the adult brain stem" EXACT OMO:0003005 [] +synonym: "tumour of the adult brainstem" EXACT OMO:0003005 [] xref: NCIT:C5967 {source="MONDO:equivalentTo"} xref: UMLS:C1332192 {source="MONDO:equivalentTo", source="NCIT:C5967"} is_a: MONDO:0021228 {source="MONDO:Redundant", source="NCIT:C5967"} ! brainstem neoplasm @@ -412819,6 +418681,7 @@ name: pulmonary sulcus neoplasm def: "A neoplasm originating from the apical lung. Most superior sulcus neoplasms are bronchogenic carcinomas. This tumor may be associated with Pancoast syndrome. It is also known as Pancoast tumor." [NCIT:C27710] synonym: "pulmonary sulcus neoplasm" EXACT [NCIT:C27710] synonym: "pulmonary sulcus tumor" EXACT [NCIT:C27710] +synonym: "pulmonary sulcus tumour" EXACT OMO:0003005 [] xref: NCIT:C27710 {source="MONDO:equivalentTo"} xref: UMLS:C1335574 {source="NCIT:C27710", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0021117 {source="NCIT:C27710"} ! lung neoplasm @@ -412912,8 +418775,10 @@ name: clitoris neoplasm def: "A neoplasm involving a clitoris." [MONDO:patterns/neoplasm] synonym: "clitoral neoplasm" EXACT [] synonym: "clitoris tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "clitoris tumour" EXACT OMO:0003005 [] synonym: "neoplasm of clitoris" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of clitoris" EXACT [MONDO:patterns/neoplasm] +synonym: "tumour of clitoris" EXACT OMO:0003005 [] xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:126925009 {source="MONDO:equivalentTo"} xref: UMLS:C1263793 {source="MONDO:equivalentTo"} @@ -412987,6 +418852,7 @@ def: "A neoplasm that arises from a pre-existing lower grade lesion, or as a res comment: Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future. synonym: "secondary neoplasm" EXACT [NCIT:C36255] synonym: "secondary tumor" EXACT [NCIT:C36255] +synonym: "secondary tumour" EXACT OMO:0003005 [] xref: NCIT:C36255 {source="MONDO:equivalentTo"} xref: UMLS:C2939419 {source="NCIT:C36255", source="MONDO:notFoundInDiseaseSubset"} intersection_of: MONDO:0023370 ! neoplastic disease or syndrome @@ -413000,6 +418866,7 @@ comment: Note that we currently treat secondary neoplasms as being neoplastic di synonym: "metastatic disease" EXACT [NCIT:C3261] synonym: "metastatic neoplasm" EXACT [NCIT:C3261] synonym: "metastatic tumor" EXACT [NCIT:C3261] +synonym: "metastatic tumour" EXACT OMO:0003005 [] xref: ICDO:8000/6 {source="NCIT:C3261"} xref: NCIT:C3261 {source="MONDO:equivalentTo"} xref: UMLS:C2939420 {source="NCIT:C3261", source="MONDO:notFoundInDiseaseSubset"} @@ -413048,13 +418915,17 @@ name: mesonephric neoplasm def: "An epithelial neoplasm of the female reproductive system arising from mesonephric remnants." [NCIT:C4295] synonym: "mesonephric duct neoplasm" EXACT [] synonym: "mesonephric duct tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "mesonephric duct tumour" EXACT OMO:0003005 [] synonym: "mesonephric neoplasm" EXACT [NCIT:C4295] synonym: "mesonephric tumor" EXACT [NCIT:C4295] +synonym: "mesonephric tumour" EXACT OMO:0003005 [] synonym: "mesonephroma" EXACT [NCIT:C4295] synonym: "neoplasm of mesonephric duct" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of mesonephric duct" EXACT [MONDO:patterns/neoplasm] +synonym: "tumour of mesonephric duct" EXACT OMO:0003005 [] synonym: "Wolffian duct neoplasm" EXACT [NCIT:C4295] synonym: "Wolffian duct tumor" EXACT [NCIT:C4295] +synonym: "Wolffian duct tumour" EXACT OMO:0003005 [] xref: ICDO:9110/1 {source="NCIT:C4295"} xref: NCIT:C4295 {source="MONDO:equivalentObsolete"} xref: UMLS:C0334531 {source="NCIT:C4295", source="MONDO:notFoundInDiseaseSubset"} @@ -413092,14 +418963,20 @@ synonym: "neoplasm of pineal gland" EXACT [NCIT:C6965] synonym: "neoplasm of the pineal gland" EXACT [NCIT:C6965] synonym: "pineal gland neoplasm" EXACT [NCIT:C6965] synonym: "pineal gland tumor" EXACT [NCIT:C6965] +synonym: "pineal gland tumour" EXACT OMO:0003005 [] synonym: "pineal parenchymal cell neoplasm" EXACT [NCIT:C6965] synonym: "pineal parenchymal cell tumor" EXACT [NCIT:C6965] +synonym: "pineal parenchymal cell tumour" EXACT OMO:0003005 [] synonym: "pineal parenchymal neoplasm" EXACT [NCIT:C6965] synonym: "pineal parenchymal tumor" EXACT [NCIT:C6965] +synonym: "pineal parenchymal tumour" EXACT OMO:0003005 [] synonym: "pineocytic neoplasm" EXACT [NCIT:C6965] synonym: "pineocytic tumor" EXACT [NCIT:C6965] +synonym: "pineocytic tumour" EXACT OMO:0003005 [] synonym: "tumor of pineal gland" EXACT [NCIT:C6965] synonym: "tumor of the pineal gland" EXACT [NCIT:C6965] +synonym: "tumour of pineal gland" EXACT OMO:0003005 [] +synonym: "tumour of the pineal gland" EXACT OMO:0003005 [] xref: ICDO:9360/1 {source="NCIT:C6965"} xref: NCIT:C6965 {source="MONDO:equivalentTo"} xref: UMLS:C0031941 {source="MONDO:equivalentTo", source="NCIT:C6965"} @@ -413121,8 +418998,11 @@ def: "A soft tissue neoplasm composed of acellular amyloid material." [NCIT:C832 synonym: "amyloid neoplasm" EXACT [DOID:6755, NCIT:C8323] synonym: "amyloid tumor" RELATED [DOID:6755] synonym: "amyloid tumor (morphologic abnormality)" EXACT [DOID:6755] +synonym: "amyloid tumour" RELATED OMO:0003005 [] +synonym: "amyloid tumour (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "soft tissue amyloid neoplasm" EXACT [NCIT:C8323] synonym: "soft tissue amyloid tumor" EXACT [NCIT:C8323] +synonym: "soft tissue amyloid tumour" EXACT OMO:0003005 [] xref: DOID:6755 {source="EFO:0003114", source="MONDO:equivalentTo"} xref: ICD9:714.32 {source="MONDO:relatedTo", source="EFO:0003114"} xref: NCIT:C8323 {source="MONDO:equivalentTo"} @@ -413555,6 +419435,8 @@ name: edema disease of swine def: "An acute disease of young pigs that is usually associated with weaning. It is characterized clinically by paresis and subcutaneous edema." [MESH:D004488] synonym: "swine edema disease" RELATED [MESH:D004488] synonym: "swine edema diseases" RELATED [MESH:D004488] +synonym: "swine oedema disease" RELATED OMO:0003005 [] +synonym: "swine oedema diseases" RELATED OMO:0003005 [] xref: MESH:D004488 {source="MONDO:equivalentTo"} xref: UMLS:C0013605 {source="MONDO:equivalentTo"} is_a: MONDO:0024990 {source="MESH:D004488"} ! swine disease @@ -414495,6 +420377,8 @@ name: venereal tumors, veterinary def: "Tumors most commonly seen on or near the genitalia. They are venereal, most likely transmitted through transplantation of cells by contact. Metastases have been reported. Spontaneous regression may occur." [MESH:D014685] synonym: "transmissible venereal tumor" RELATED [MESH:D014685] synonym: "transmissible venereal tumors" RELATED [MESH:D014685] +synonym: "transmissible venereal tumour" RELATED OMO:0003005 [] +synonym: "transmissible venereal tumours" RELATED OMO:0003005 [] synonym: "tumor, transmissible venereal" RELATED [MESH:D014685] synonym: "tumor, veterinary venereal" RELATED [MESH:D014685] synonym: "tumors, transmissible venereal" RELATED [MESH:D014685] @@ -414504,6 +420388,8 @@ synonym: "venereal tumor, veterinary" RELATED [MESH:D014685] synonym: "venereal tumors, transmissible" RELATED [MESH:D014685] synonym: "veterinary venereal tumor" RELATED [MESH:D014685] synonym: "veterinary venereal tumors" RELATED [MESH:D014685] +synonym: "veterinary venereal tumour" RELATED OMO:0003005 [] +synonym: "veterinary venereal tumours" RELATED OMO:0003005 [] xref: MESH:D014685 {source="MONDO:equivalentTo"} xref: UMLS:C0042465 {source="MONDO:equivalentTo"} is_a: MONDO:0005583 {source="MESH:D014685"} ! non-human animal disease @@ -414630,6 +420516,7 @@ relationship: MONDO:0700097 MONDO:0017769 ! cross-species analog acquired immuno id: MONDO:0025488 name: leukemia, feline def: "A neoplastic disease of cats frequently associated with feline leukemia virus infection." [MESH:D016582] +synonym: "Feline leukaemia" RELATED OMO:0003005 [] synonym: "Feline leukemia" RELATED [MESH:D016582] synonym: "Feline leukemias" RELATED [MESH:D016582] synonym: "leukemias, Feline" RELATED [MESH:D016582] @@ -414647,6 +420534,7 @@ relationship: MONDO:0700097 MONDO:0005059 {source="MESH:D016582"} ! cross-specie id: MONDO:0025489 name: enzootic bovine leukosis def: "A lymphoid neoplastic disease in cattle caused by the bovine leukemia virus. Enzootic bovine leukosis may take the form of lymphosarcoma, malignant lymphoma, or leukemia but the presence of malignant cells in the blood is not a consistent finding." [MESH:D016583] +synonym: "bovine leukaemia" RELATED OMO:0003005 [] synonym: "bovine leukemia" RELATED [MESH:D016583] synonym: "bovine leukemias" RELATED [MESH:D016583] synonym: "bovine Leukoses" RELATED [MESH:D016583] @@ -414767,6 +420655,7 @@ subset: disease_grouping subset: obsoletion_candidate subset: ordo_group_of_disorders synonym: "genetic neuroendocrine tumor" RELATED [Orphanet:271847] +synonym: "genetic neuroendocrine tumour" RELATED OMO:0003005 [] synonym: "hereditary neuroendocrine neoplasm" EXACT [MONDO:patterns/hereditary] xref: Orphanet:271847 {source="MONDO:equivalentTo"} xref: UMLS:CN202530 {source="MONDO:equivalentTo"} @@ -415526,6 +421415,7 @@ subset: gard_rare synonym: "anogenital type verrucous carcinoma" RELATED [MESH:D062688] synonym: "Buschke Lowenstein tumor" EXACT [MESH:D062688] synonym: "Buschke-Lowenstein tumor" RELATED [MESH:D062688] +synonym: "Buschke-Lowenstein tumour" RELATED OMO:0003005 [] synonym: "condyloma Acuminatum, Giant" RELATED [MESH:D062688] synonym: "condyloma Acuminatums, Giant" RELATED [MESH:D062688] synonym: "GCBL" RELATED ABBREVIATION [GARD:0009663] @@ -415833,6 +421723,7 @@ consider: MONDO:0027749 id: MONDO:0027766 name: generalized lipodystrophy def: "Almost complete absence of subcutaneous and/or visceral adipose tissue." [NCIT:C131815] +synonym: "complete generalised lipodystrophy" EXACT OMO:0003005 [] synonym: "complete generalized lipodystrophy" EXACT [DOID:0080298, Wikipedia:Acquired_generalized_lipodystrophy] xref: DOID:0080298 {source="MONDO:equivalentTo"} xref: HP:0009064 {source="MONDO:otherHierarchy"} @@ -415859,6 +421750,7 @@ def: "A morphologic variant of lung adenocarcinoma characterized by the presence synonym: "lung colloid adenocarcinoma" EXACT [NCIT:C45512] synonym: "lung mucinous cystadenocarcinoma" EXACT [NCIT:C45512] synonym: "lung mucinous cystic tumor of borderline malignancy" EXACT [NCIT:C45512] +synonym: "lung mucinous cystic tumour of borderline malignancy" EXACT OMO:0003005 [] synonym: "mucinous lung adenocarcinoma" RELATED [DOID:0080303] xref: DOID:0080303 {source="MONDO:equivalentTo"} xref: DOID:0080304 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} @@ -418547,6 +424439,7 @@ is_a: MONDO:0009299 {source="OMIM:619834"} ! 46 XX gonadal dysgenesis [Term] id: MONDO:0030746 name: epidermolysis bullosa, junctional 2A, intermediate +synonym: "epidermolysis bullosa, junctional 2A, generalised intermediate" EXACT OMO:0003005 [] synonym: "epidermolysis bullosa, junctional 2A, generalized intermediate" EXACT [OMIM:619783] synonym: "epidermolysis bullosa, junctional 2A, intermediate" EXACT [OMIM:619783] synonym: "epidermolysis bullosa, junctional 2A, non-herlitz IIA" EXACT [OMIM:619783] @@ -418557,6 +424450,7 @@ is_a: MONDO:0017612 {source="OMIM:619783"} ! junctional epidermolysis bullosa [Term] id: MONDO:0030747 name: epidermolysis bullosa, junctional 2B, severe +synonym: "epidermolysis bullosa, junctional 2B, generalised severe" EXACT OMO:0003005 [] synonym: "epidermolysis bullosa, junctional 2B, generalized severe" EXACT [OMIM:619784] synonym: "epidermolysis bullosa, junctional 2B, herlitz IIA" EXACT [OMIM:619784] synonym: "epidermolysis bullosa, junctional 2B, severe" EXACT [OMIM:619784] @@ -418567,6 +424461,7 @@ is_a: MONDO:0017612 {source="OMIM:619784"} ! junctional epidermolysis bullosa [Term] id: MONDO:0030748 name: epidermolysis bullosa, junctional 3A, intermediate +synonym: "epidermolysis bullosa, junctional 3A, generalised intermediate" EXACT OMO:0003005 [] synonym: "epidermolysis bullosa, junctional 3A, generalized intermediate" EXACT [OMIM:619785] synonym: "epidermolysis bullosa, junctional 3A, intermediate" EXACT [OMIM:619785] synonym: "epidermolysis bullosa, junctional 3A, non-herlitz IIA" EXACT [OMIM:619785] @@ -418577,6 +424472,7 @@ is_a: MONDO:0017612 {source="OMIM:619785"} ! junctional epidermolysis bullosa [Term] id: MONDO:0030749 name: epidermolysis bullosa, junctional 3B, severe +synonym: "epidermolysis bullosa, junctional 3B, generalised severe" EXACT OMO:0003005 [] synonym: "epidermolysis bullosa, junctional 3B, generalized severe" EXACT [OMIM:619786] synonym: "epidermolysis bullosa, junctional 3B, herlitz IIA" EXACT [OMIM:619786] synonym: "epidermolysis bullosa, junctional 3B, severe" EXACT [OMIM:619786] @@ -418587,6 +424483,7 @@ is_a: MONDO:0017612 {source="OMIM:619786"} ! junctional epidermolysis bullosa [Term] id: MONDO:0030750 name: epidermolysis bullosa, junctional 4, intermediate +synonym: "epidermolysis bullosa, generalised atrophic benign" EXACT OMO:0003005 [] synonym: "epidermolysis bullosa, generalized atrophic benign" EXACT [OMIM:619787] synonym: "epidermolysis bullosa, junctional 4, intermediate" EXACT [OMIM:619787] synonym: "epidermolysis bullosa, junctional 4, non-herlitz IIA" EXACT [OMIM:619787] @@ -418615,6 +424512,7 @@ consider: MONDO:0019044 [Term] id: MONDO:0030768 name: epidermolysis bullosa, junctional 5A, intermediate +synonym: "epidermolysis bullosa, junctional 5A, generalised intermediate" EXACT OMO:0003005 [] synonym: "epidermolysis bullosa, junctional 5A, generalized intermediate" EXACT [OMIM:619816] synonym: "epidermolysis bullosa, junctional 5A, intermediate" EXACT [OMIM:619816] synonym: "epidermolysis bullosa, junctional 5A, non-herlitz IIA" EXACT [OMIM:619816] @@ -419426,6 +425324,7 @@ name: intellectual disability, autosomal dominant 50 synonym: "autosomal dominant intellectual disability 50" RELATED [DOID:0080233] synonym: "autosomal dominant mental retardation 50" RELATED DEPRECATED [DOID:0080233] synonym: "intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities" EXACT [OMIM:617787, OMIM:genemap2] +synonym: "intellectual developmental disorder, autosomal dominant 50, with behavioural abnormalities" EXACT OMO:0003005 [] synonym: "intellectual disability, autosomal dominant 50" EXACT [OMIM:617787] synonym: "mental retardation, autosomal dominant 50" RELATED DEPRECATED [OMIM:617787] synonym: "MRD50" RELATED DEPRECATED [OMIM:617787] @@ -420391,6 +426290,7 @@ is_a: MONDO:0015626 {source="OMIM:620068"} ! Charcot-Marie-Tooth disease id: MONDO:0031071 name: Diamond-Blackfan anemia 21 synonym: "DBA21" EXACT ABBREVIATION [OMIM:620072] +synonym: "diamond-blackfan anaemia 21" EXACT OMO:0003005 [] synonym: "diamond-blackfan anemia 21" EXACT [OMIM:620072] xref: OMIM:620072 {source="MONDO:equivalentTo"} is_a: MONDO:0015253 {source="OMIM:620072"} ! Diamond-Blackfan anemia @@ -423564,6 +429464,7 @@ synonym: "CHNG7" RELATED ABBREVIATION [OMIM:618573] synonym: "HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7" RELATED [OMIM:618573] synonym: "hypothyroidism, congenital, nongoitrous, 7" EXACT CLINGEN_PREFERRED [] synonym: "resistance to thyrotropin-releasing hormone syndrome" EXACT [MONDO:0020503] +synonym: "thyrotropin-releasing hormone resistance, generalised" RELATED OMO:0003005 [] synonym: "thyrotropin-releasing hormone resistance, generalized" RELATED [OMIM:618573] synonym: "TRH resistance syndrome" EXACT [Orphanet:99832] xref: DOID:0111836 {source="MONDO:equivalentTo"} @@ -423931,6 +429832,7 @@ name: diarrhea 11, malabsorptive, congenital synonym: "DIAR11" RELATED ABBREVIATION [OMIM:618662] synonym: "DIARRHEA 11, MALABSORPTIVE, CONGENITAL" RELATED [OMIM:618662] synonym: "Intractable Diarrhea of Infancy Syndrome" RELATED [OMIM:618662] +synonym: "Intractable Diarrhoea of Infancy Syndrome" RELATED OMO:0003005 [] xref: OMIM:618662 {source="MONDO:equivalentTo"} xref: Orphanet:1670 {source="OMIM:618662"} is_a: MONDO:0000824 {source="OMIM:618662"} ! congenital diarrhea @@ -425906,6 +431808,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0033544 name: Tolchin-Le Caignec syndrome synonym: "intellectual developmental disorder With behavioral abnormalities and variable bone defects" RELATED [OMIM:618971] +synonym: "intellectual developmental disorder With behavioural abnormalities and variable bone defects" RELATED OMO:0003005 [] synonym: "TOLCAS" RELATED ABBREVIATION [OMIM:618971] synonym: "TOLCHIN-LE CAIGNEC SYNDROME" RELATED [OMIM:618971] xref: OMIM:618971 {source="MONDO:equivalentTo"} @@ -427066,6 +432969,7 @@ id: MONDO:0034109 name: congenital myopathy with reduced type 2 muscle fibers subset: ordo_disease synonym: "myopathy, congenital, with fast-twitch (type II) fiber atrophy" EXACT [OMIM:618414, OMIM:genemap2] +synonym: "myopathy, congenital, with fast-twitch (type II) fibre atrophy" EXACT OMO:0003005 [] xref: DOID:0081346 {source="MONDO:equivalentTo"} xref: OMIM:618414 {source="Orphanet:544602", source="MONDO:equivalentTo"} xref: Orphanet:544602 {source="MONDO:equivalentTo"} @@ -427755,6 +433659,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0035112 name: acute myeloid leukemia with BCR-ABL1 subset: ordo_disease +synonym: "acute myeloid leukaemia with t(9;22)(q34.1;q11.2)" EXACT OMO:0003005 [] synonym: "acute myeloid leukemia with t(9;22)(q34.1;q11.2)" EXACT [] synonym: "AML with BCR-ABL1" EXACT [Orphanet:585867] synonym: "AML with t(9;22)(q34.1;q11.2)" EXACT [Orphanet:585867] @@ -428163,6 +434068,7 @@ id: MONDO:0035349 name: localized dystrophic epidermolysis bullosa def: "A localized form of dystrophic epidermolysis bullosa characterized by blisters confined primarily to the hands and feet (acral form) or to the pretibial region (pretibial form). Nail dystrophy or loss is common and may be an isolated finding (nail only form). This disease can be inherited via autosomal dominant or autosomal recessive inheritance." [Orphanet:595356] subset: ordo_disease +synonym: "localised DEB" EXACT OMO:0003005 [] synonym: "localized DEB" EXACT [Orphanet:595356] xref: Orphanet:595356 {source="MONDO:equivalentTo"} is_a: MONDO:0006543 {source="Orphanet:595356"} ! epidermolysis bullosa dystrophica @@ -428594,7 +434500,9 @@ id: MONDO:0035474 name: PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis def: "A rare genetic primary lymphedema characterized by uniform, widespread lymphedema, often with systemic involvement such as intestinal and pulmonary lymphangiectasia, pleural and pericardial effusions, and chylothorax. There is a high incidence of non-immune hydrops fetalis, which may result in fetal demise or fully resolve after birth. Severe, recurrent facial cellulitis is observed in some patients. Presence of epicanthic folds or micrognathia has occasionally been reported, while intelligence is normal, and seizures are absent." [Orphanet:568062] subset: ordo_disorder +synonym: "generalised lymphatic dysplasia of Fotiou" EXACT OMO:0003005 [] synonym: "generalized lymphatic dysplasia of Fotiou" EXACT [Orphanet:568062] +synonym: "PIEZO1-related generalised lymphatic dysplasia with systemic involvement" EXACT OMO:0003005 [] synonym: "PIEZO1-related generalized lymphatic dysplasia with systemic involvement" EXACT [Orphanet:568062] synonym: "PIEZO1-related LRHF/GLD" EXACT [Orphanet:568062] synonym: "PIEZO1-related lymphatic-related hydrops fetalis" EXACT [Orphanet:568062] @@ -428606,6 +434514,8 @@ id: MONDO:0035475 name: EPHB4-related lymphatic-related hydrops fetalis def: "A rare primary lymphedema characterized by a highly variable lymphatic phenotype ranging from severe lymphatic-related hydrops fetalis, which may cause perinatal demise or fully resolve to become completely asymptomatic, to a mild presentation in older patients with persistent varicose veins, peripheral edema, and impaired lymph drainage in the lower limbs. Atrial septal defect has been described in association and may be the only anomaly in some patients." [Orphanet:568065] subset: ordo_disorder +synonym: "EPHB4-related generalised lymphatic dysplasia with atrial septal defect" EXACT OMO:0003005 [] +synonym: "EPHB4-related generalised lymphatic dysplasia with non-immune hydrops fetalis" EXACT OMO:0003005 [] synonym: "EPHB4-related generalized lymphatic dysplasia with atrial septal defect" EXACT [Orphanet:568065] synonym: "EPHB4-related generalized lymphatic dysplasia with non-immune hydrops fetalis" EXACT [Orphanet:568065] synonym: "EPHB4-related LRHF/GLD" EXACT [Orphanet:568065] @@ -429564,6 +435474,7 @@ is_a: MONDO:0035605 {source="NCIT:C80331"} ! B-lymphoblastic leukemia/lymphoma w id: MONDO:0035941 name: B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) subset: ordo_subtype_of_a_disorder +synonym: "B lymphoblastic leukaemia lymphoma with t(v;11q23); MLL rearranged" EXACT OMO:0003005 [] synonym: "B lymphoblastic leukemia lymphoma with t(v;11q23); MLL rearranged" EXACT [Orphanet:585918] synonym: "B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A Rearranged" EXACT [Orphanet:585918] xref: ICD10CM:C91.0 {source="Orphanet:585918"} @@ -429575,6 +435486,7 @@ is_a: MONDO:0035605 {source="NCIT:C80332", source="Orphanet:585918"} ! B-lymphob id: MONDO:0035942 name: B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) subset: ordo_subtype_of_a_disorder +synonym: "B lymphoblastic leukaemia lymphoma with t(12;21)(p13;q22); TEL-AML1" EXACT OMO:0003005 [] synonym: "B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1" EXACT [Orphanet:585929] synonym: "B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1" EXACT [Orphanet:585929] xref: ICD10CM:C91.0 {source="Orphanet:585929"} @@ -429607,6 +435519,7 @@ is_a: MONDO:0035605 {source="NCIT:C80338", source="Orphanet:585942"} ! B-lymphob id: MONDO:0035945 name: B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) subset: ordo_subtype_of_a_disorder +synonym: "B lymphoblastic leukaemia lymphoma with t(5;14)(q31;q32); IL3-IGH" EXACT OMO:0003005 [] synonym: "B lymphoblastic leukemia lymphoma with t(5;14)(q31;q32); IL3-IGH" EXACT [Orphanet:585948] xref: ICD10CM:C91.0 {source="Orphanet:585948"} xref: NCIT:C80340 {source="MONDO:equivalentTo"} @@ -429765,9 +435678,12 @@ def: "A malignant neoplasm that affects the kidney and occurs in childhood." [NC synonym: "childhood kidney cancer" EXACT [MONDO:design_pattern] synonym: "childhood malignant kidney neoplasm" EXACT [NCIT:C123907] synonym: "childhood malignant kidney tumor" EXACT [NCIT:C123907] +synonym: "childhood malignant kidney tumour" EXACT OMO:0003005 [] synonym: "childhood malignant renal neoplasm" EXACT [NCIT:C123907] synonym: "childhood malignant renal tumor" EXACT [NCIT:C123907] +synonym: "childhood malignant renal tumour" EXACT OMO:0003005 [] synonym: "kidney cancer of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] +synonym: "paediatric kidney cancer" EXACT OMO:0003005 [] synonym: "pediatric kidney cancer" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] xref: NCIT:C123907 {source="MONDO:equivalentTo"} xref: UMLS:C4086162 {source="MONDO:equivalentTo", source="NCIT:C123907"} @@ -429783,10 +435699,13 @@ name: adrenal cortex neoplasm def: "A benign or malignant (primary or metastatic) neoplasm affecting the adrenal cortex. (NCI05)" [NCIT:C2858] synonym: "adrenal cortex neoplasm" EXACT [NCIT:C2858] synonym: "adrenal cortex tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C2858] +synonym: "adrenal cortex tumour" EXACT OMO:0003005 [] synonym: "adrenocortical neoplasm" EXACT [NCIT:C2858] synonym: "adrenocortical tumor" EXACT [NCIT:C2858] +synonym: "adrenocortical tumour" EXACT OMO:0003005 [] synonym: "neoplasm of adrenal cortex" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of adrenal cortex" EXACT [MONDO:patterns/neoplasm] +synonym: "tumour of adrenal cortex" EXACT OMO:0003005 [] xref: MESH:D000306 {source="MONDO:equivalentTo"} xref: NCIT:C2858 {source="MONDO:equivalentTo"} xref: UMLS:C0001618 {source="NCIT:C2858", source="MONDO:notFoundInDiseaseSubset"} @@ -429803,6 +435722,8 @@ synonym: "ovarian Sertoli-Leydig cell neoplasm" EXACT [NCIT:C2880] synonym: "ovarian Sertoli-Leydig cell tumor" EXACT [NCIT:C2880] synonym: "Sertoli-Leydig cell tumor of ovary" EXACT [NCIT:C2880] synonym: "Sertoli-Leydig cell tumor of the ovary" EXACT [NCIT:C2880] +synonym: "Sertoli-Leydig cell tumour of ovary" EXACT OMO:0003005 [] +synonym: "Sertoli-Leydig cell tumour of the ovary" EXACT OMO:0003005 [] synonym: "Sertoli-Leydig neoplasm of ovary" EXACT [NCIT:C2880] synonym: "Sertoli-Leydig neoplasm of the ovary" EXACT [NCIT:C2880] xref: EFO:1000429 {source="MONDO:equivalentTo"} @@ -429833,8 +435754,10 @@ name: spleen neoplasm def: "A benign or malignant neoplasm that affects the spleen. Representative examples include hemangioma, lymphoma, splenic involvement by leukemia, and angiosarcoma." [NCIT:C3383] synonym: "neoplasm of spleen" EXACT [MONDO:patterns/neoplasm] synonym: "spleen tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "spleen tumour" EXACT OMO:0003005 [] synonym: "splenic neoplasm" EXACT [NCIT:C3383] synonym: "tumor of spleen" EXACT [MONDO:patterns/neoplasm] +synonym: "tumour of spleen" EXACT OMO:0003005 [] xref: NCIT:C3383 {source="MONDO:equivalentTo"} xref: UMLS:C0037999 {source="NCIT:C3383", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0002334 {source="MONDO:Redundant", source="NCIT:C3383"} ! hematopoietic and lymphoid system neoplasm @@ -429847,9 +435770,11 @@ name: axillary neoplasm def: "A benign or malignant neoplasm that affects the structures of the axilla. Representative examples include axillary lipoma, axillary lymph node lymphoma, and metastatic carcinoma to the axillary lymph nodes." [NCIT:C35749] synonym: "axilla neoplasm" EXACT [] synonym: "axilla tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "axilla tumour" EXACT OMO:0003005 [] synonym: "axillary neoplasm" EXACT [NCIT:C35749] synonym: "neoplasm of axilla" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of axilla" EXACT [MONDO:patterns/neoplasm] +synonym: "tumour of axilla" EXACT OMO:0003005 [] xref: NCIT:C35749 {source="MONDO:equivalentTo"} xref: SCTID:126639006 {source="MONDO:equivalentTo"} xref: UMLS:C1290308 {source="NCIT:C35749", source="MONDO:equivalentTo"} @@ -429876,8 +435801,10 @@ name: lymphatic vessel neoplasm def: "A benign or malignant neoplasm arising from the lymphatic vessels." [NCIT:C3723] synonym: "lymph vessel neoplasm" EXACT [NCIT:C3723] synonym: "lymph vessel tumor" EXACT [NCIT:C3723] +synonym: "lymph vessel tumour" EXACT OMO:0003005 [] synonym: "lymphatic vessel neoplasm" EXACT [NCIT:C3723] synonym: "lymphatic vessel tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3723] +synonym: "lymphatic vessel tumour" EXACT OMO:0003005 [] synonym: "neoplasm of lymph vessel" EXACT [NCIT:C3723] synonym: "neoplasm of lymphatic vessel" EXACT [MONDO:patterns/neoplasm, NCIT:C3723] synonym: "neoplasm of the lymph vessel" EXACT [NCIT:C3723] @@ -429886,6 +435813,10 @@ synonym: "tumor of lymph vessel" EXACT [NCIT:C3723] synonym: "tumor of lymphatic vessel" EXACT [MONDO:patterns/neoplasm, NCIT:C3723] synonym: "tumor of the lymph vessel" EXACT [NCIT:C3723] synonym: "tumor of the lymphatic vessel" EXACT [NCIT:C3723] +synonym: "tumour of lymph vessel" EXACT OMO:0003005 [] +synonym: "tumour of lymphatic vessel" EXACT OMO:0003005 [] +synonym: "tumour of the lymph vessel" EXACT OMO:0003005 [] +synonym: "tumour of the lymphatic vessel" EXACT OMO:0003005 [] xref: NCIT:C3723 {source="MONDO:equivalentTo"} xref: UMLS:C0206619 {source="MONDO:equivalentTo", source="NCIT:C3723"} is_a: MONDO:0024296 {source="MONDO:Redundant", source="NCIT:C3723"} ! vascular neoplasm @@ -429919,11 +435850,14 @@ name: benign epithelial neoplasm def: "A neoplasm arising from the epithelial cells. It is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign epithelial neoplasms remain confined to the original site of growth and only rarely metastasize to other anatomic sites." [NCIT:C4092] synonym: "benign epithelial neoplasm" EXACT [NCIT:C4092] synonym: "benign epithelial tumor" EXACT [NCIT:C4092] +synonym: "benign epithelial tumour" EXACT OMO:0003005 [] synonym: "benign epithelioma" EXACT [NCIT:C4092] synonym: "benign neoplasm of epithelium" EXACT [NCIT:C4092] synonym: "benign neoplasm of the epithelium" EXACT [NCIT:C4092] synonym: "benign tumor of epithelium" EXACT [NCIT:C4092] synonym: "benign tumor of the epithelium" EXACT [NCIT:C4092] +synonym: "benign tumour of epithelium" EXACT OMO:0003005 [] +synonym: "benign tumour of the epithelium" EXACT OMO:0003005 [] synonym: "epithelial neoplasm, benign" EXACT [MONDO:patterns/benign] synonym: "epithelioma, benign" EXACT [NCIT:C4092] xref: ICDO:8010/0 {source="NCIT:C4092"} @@ -429941,6 +435875,7 @@ def: "A Leydig cell tumor which does not recur or metastasize. Morphologically, synonym: "adenoma, interstitial" EXACT [NCIT:C4212] synonym: "benign interstitial cell neoplasm" EXACT [NCIT:C4212] synonym: "benign interstitial cell tumor" EXACT [NCIT:C4212] +synonym: "benign interstitial cell tumour" EXACT OMO:0003005 [] synonym: "benign Leydig cell neoplasm" EXACT [NCIT:C4212] synonym: "benign Leydig cell tumor" EXACT [NCIT:C4212] synonym: "Leydig cell tumor, benign" EXACT [MONDO:patterns/benign, NCIT:C4212] @@ -430002,6 +435937,7 @@ subset: ordo_subtype_of_a_disorder synonym: "HSD10 deficiency, atypical type" EXACT [Orphanet:85295] synonym: "Syndromic X-linked intellectual disability type 10" EXACT [Orphanet:85295] synonym: "X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome" BROAD [Orphanet:85295] +synonym: "X-linked intellectual disability-choreoathetosis-abnormal behaviour syndrome" BROAD OMO:0003005 [] xref: ICD10CM:G25.5 {source="Orphanet:85295"} xref: Orphanet:85295 {source="MONDO:equivalentTo"} is_a: MONDO:0010327 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! HSD10 mitochondrial disease @@ -430014,6 +435950,9 @@ synonym: "childhood neoplasm of testis" EXACT [NCIT:C5053] synonym: "childhood neoplasm of the testis" EXACT [NCIT:C5053] synonym: "childhood testicular neoplasm" EXACT [NCIT:C5053] synonym: "neoplasm of testis of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] +synonym: "paediatric neoplasm of testis" EXACT OMO:0003005 [] +synonym: "paediatric neoplasm of the testis" EXACT OMO:0003005 [] +synonym: "paediatric testicular neoplasm" EXACT OMO:0003005 [] synonym: "pediatric neoplasm of testis" EXACT [MONDO:patterns/childhood, NCIT:C5053] synonym: "pediatric neoplasm of the testis" EXACT [NCIT:C5053] synonym: "pediatric testicular neoplasm" EXACT [NCIT:C5053] @@ -430053,12 +435992,15 @@ name: ovarian thecoma def: "A stromal tumor that arises from the ovary and is characterized by the presence of cells that contain lipid and resemble theca cells. The vast majority of cases are benign." [NCIT:C66989] synonym: "ovarian theca cell neoplasm" EXACT [NCIT:C66989] synonym: "ovarian theca cell tumor" EXACT [NCIT:C66989] +synonym: "ovarian theca cell tumour" EXACT OMO:0003005 [] synonym: "ovarian thecoma" EXACT [NCIT:C66989] synonym: "ovary thecoma" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "theca cell neoplasm of ovary" EXACT [NCIT:C66989] synonym: "theca cell neoplasm of the ovary" EXACT [NCIT:C66989] synonym: "theca cell tumor of ovary" EXACT [NCIT:C66989] synonym: "theca cell tumor of the ovary" EXACT [NCIT:C66989] +synonym: "theca cell tumour of ovary" EXACT OMO:0003005 [] +synonym: "theca cell tumour of the ovary" EXACT OMO:0003005 [] synonym: "thecoma of ovary" EXACT [NCIT:C66989] synonym: "thecoma of the ovary" EXACT [NCIT:C66989] xref: NCIT:C66989 {source="MONDO:equivalentTo"} @@ -430073,6 +436015,7 @@ id: MONDO:0037254 name: transitional cell neoplasm synonym: "transitional cell neoplasm" EXACT [NCIT:C6783] synonym: "transitional cell tumor" EXACT [NCIT:C6783] +synonym: "transitional cell tumour" EXACT OMO:0003005 [] xref: NCIT:C6783 {source="MONDO:equivalentTo"} xref: UMLS:C0334265 {source="NCIT:C6783", source="MONDO:equivalentTo"} is_a: MONDO:0005626 {source="NCIT:C6783"} ! epithelial neoplasm @@ -430087,6 +436030,8 @@ synonym: "serous neoplasm of ovary" EXACT [NCIT:C8431] synonym: "serous neoplasm of the ovary" EXACT [NCIT:C8431] synonym: "serous tumor of ovary" EXACT [NCIT:C8431] synonym: "serous tumor of the ovary" EXACT [NCIT:C8431] +synonym: "serous tumour of ovary" EXACT OMO:0003005 [] +synonym: "serous tumour of the ovary" EXACT OMO:0003005 [] xref: NCIT:C8431 {source="MONDO:equivalentTo"} xref: UMLS:C0476122 {source="NCIT:C8431", source="MONDO:equivalentTo"} is_a: MONDO:0002229 {source="MONDO:Redundant", source="NCIT:C8431"} ! ovarian epithelial tumor @@ -430132,10 +436077,14 @@ synonym: "malignant neoplasm of sebaceous gland" EXACT [MONDO:patterns/cancer, N synonym: "malignant neoplasm of the sebaceous gland" EXACT [NCIT:C8409] synonym: "malignant sebaceous gland neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C8409] synonym: "malignant sebaceous gland tumor" EXACT [NCIT:C8409] +synonym: "malignant sebaceous gland tumour" EXACT OMO:0003005 [] synonym: "malignant sebaceous neoplasm" EXACT [NCIT:C8409] synonym: "malignant sebaceous tumor" EXACT [NCIT:C8409] +synonym: "malignant sebaceous tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of sebaceous gland" EXACT [NCIT:C8409] synonym: "malignant tumor of the sebaceous gland" EXACT [NCIT:C8409] +synonym: "malignant tumour of sebaceous gland" EXACT OMO:0003005 [] +synonym: "malignant tumour of the sebaceous gland" EXACT OMO:0003005 [] xref: NCIT:C8409 {source="MONDO:equivalentTo"} xref: UMLS:C1382026 {source="MONDO:equivalentTo", source="NCIT:C8409"} is_a: MONDO:0006963 {source="MONDO:Redundant", source="NCIT:C8409"} ! sebaceous gland neoplasm @@ -430151,6 +436100,8 @@ synonym: "infratentorial neoplasm" EXACT [NCIT:C3139] synonym: "infratentorial neoplasms" EXACT [NCIT:C3139] synonym: "infratentorial tumor" EXACT [NCIT:C3139] synonym: "infratentorial tumors" EXACT [NCIT:C3139] +synonym: "infratentorial tumour" EXACT OMO:0003005 [] +synonym: "infratentorial tumours" EXACT OMO:0003005 [] synonym: "neoplasms, infratentorial" EXACT [NCIT:C3139] xref: NCIT:C3139 {source="MONDO:equivalentTo"} xref: UMLS:C0021432 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C3139"} @@ -430199,12 +436150,16 @@ name: malignant central nervous system mesenchymal, non-meningothelial neoplasm def: "A metastasizing mesenchymal, non-meningothelial neoplasm that arises from the central nervous system." [NCIT:C6758] synonym: "central nervous system mesenchymal non-meningothelial tumor, malignant" EXACT [MONDO:patterns/malignant] synonym: "malignant central nervous system mesenchymal non-meningothelial tumor" EXACT [] +synonym: "malignant central nervous system mesenchymal non-meningothelial tumour" EXACT OMO:0003005 [] synonym: "malignant central nervous system mesenchymal, non-meningothelial neoplasm" EXACT [NCIT:C6758] synonym: "malignant central nervous system mesenchymal, non-meningothelial tumor" EXACT [NCIT:C6758] +synonym: "malignant central nervous system mesenchymal, non-meningothelial tumour" EXACT OMO:0003005 [] synonym: "malignant central nervous system soft tissue neoplasm" EXACT [NCIT:C6758] synonym: "malignant central nervous system soft tissue tumor" EXACT [NCIT:C6758] +synonym: "malignant central nervous system soft tissue tumour" EXACT OMO:0003005 [] synonym: "malignant CNS soft tissue neoplasm" EXACT [NCIT:C6758] synonym: "malignant CNS soft tissue tumor" EXACT [NCIT:C6758] +synonym: "malignant CNS soft tissue tumour" EXACT OMO:0003005 [] synonym: "malignant soft tissue neoplasm of central nervous system" EXACT [NCIT:C6758] synonym: "malignant soft tissue neoplasm of CNS" EXACT [NCIT:C6758] synonym: "malignant soft tissue neoplasm of the central nervous system" EXACT [NCIT:C6758] @@ -430213,6 +436168,10 @@ synonym: "malignant soft tissue tumor of central nervous system" EXACT [NCIT:C67 synonym: "malignant soft tissue tumor of CNS" EXACT [NCIT:C6758] synonym: "malignant soft tissue tumor of the central nervous system" EXACT [NCIT:C6758] synonym: "malignant soft tissue tumor of the CNS" EXACT [NCIT:C6758] +synonym: "malignant soft tissue tumour of central nervous system" EXACT OMO:0003005 [] +synonym: "malignant soft tissue tumour of CNS" EXACT OMO:0003005 [] +synonym: "malignant soft tissue tumour of the central nervous system" EXACT OMO:0003005 [] +synonym: "malignant soft tissue tumour of the CNS" EXACT OMO:0003005 [] synonym: "soft tissue cancer of central nervous system" EXACT [NCIT:C6758] synonym: "soft tissue cancer of the central nervous system" EXACT [NCIT:C6758] xref: NCIT:C6758 {source="MONDO:equivalentTo"} @@ -430229,6 +436188,7 @@ name: endometrioid stromal and related neoplasms def: "A category of mesenchymal gynecologic neoplasms. It includes endometrial stromal nodule, endometrioid stromal sarcoma, and undifferentiated sarcoma. Endometrial stromal nodule has been described in the uterine corpus only. Histologically, it is characterized by the lack of infiltration of the surrounding tissues. Endometrioid stromal sarcoma affects the uterine corpus, and rarely, the ovaries, cervix, and vagina. In the uterine corpus it is classified as low grade or high grade endometrial stromal sarcoma. In the remainder of the anatomic sites it is classified as low grade endometrioid stromal sarcoma. Undifferentiated sarcoma was previously also known as high grade endometrial stromal sarcoma. In 2014, high grade endometrial stromal sarcoma was reclassified and is currently considered a distinct and rare neoplasm that affects the uterine corpus only. It appears to have a prognosis that falls between low grade endometrial stromal sarcoma and undifferentiated sarcoma. The latter affects the uterine corpus and rarely the remainder of the anatomic sites." [NCIT:C8384] synonym: "endometrioid stromal and related neoplasms" EXACT [NCIT:C8384] synonym: "endometrioid stromal and related tumors" EXACT [NCIT:C8384] +synonym: "endometrioid stromal and related tumours" EXACT OMO:0003005 [] xref: NCIT:C8384 {source="MONDO:equivalentTo"} xref: UMLS:C3642437 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C8384"} xref: UMLS:C4287868 {source="MONDO:equivalentTo"} @@ -430239,12 +436199,16 @@ id: MONDO:0037743 name: mediastinal soft tissue cancer def: "A malignant neoplasm that arises from the soft tissues of the mediastinum." [NCIT:C6642] synonym: "malignant mediastinal mesenchymal tumor" EXACT [] +synonym: "malignant mediastinal mesenchymal tumour" EXACT OMO:0003005 [] synonym: "malignant mediastinal soft tissue neoplasm" EXACT [NCIT:C6642] synonym: "malignant mediastinal soft tissue tumor" EXACT [NCIT:C6642] +synonym: "malignant mediastinal soft tissue tumour" EXACT OMO:0003005 [] synonym: "malignant soft tissue neoplasm of mediastinum" EXACT [NCIT:C6642] synonym: "malignant soft tissue neoplasm of the mediastinum" EXACT [NCIT:C6642] synonym: "malignant soft tissue tumor of mediastinum" EXACT [NCIT:C6642] synonym: "malignant soft tissue tumor of the mediastinum" EXACT [NCIT:C6642] +synonym: "malignant soft tissue tumour of mediastinum" EXACT OMO:0003005 [] +synonym: "malignant soft tissue tumour of the mediastinum" EXACT OMO:0003005 [] synonym: "mediastinal mesenchymal tumor, malignant" EXACT [MONDO:patterns/malignant] xref: NCIT:C6642 {source="MONDO:equivalentTo"} xref: UMLS:C1334599 {source="MONDO:equivalentTo", source="NCIT:C6642"} @@ -430259,6 +436223,7 @@ id: MONDO:0037744 name: neoplasm of retromolar area synonym: "neoplasm of retromolar area" EXACT [] synonym: "tumor of retromolar area" RELATED [] +synonym: "tumour of retromolar area" RELATED OMO:0003005 [] xref: SCTID:126804008 {source="MONDO:equivalentTo"} xref: UMLS:C0345590 {source="MONDO:equivalentTo"} is_a: MONDO:0021580 ! neoplasm of jaw @@ -430282,6 +436247,7 @@ name: malignant vaginal mixed epithelial and mesenchymal neoplasm def: "A malignant neoplasm that arises from the vagina and is characterized by the presence of an epithelial and a mesenchymal component. This category includes adenosarcoma, carcinosarcoma, and malignant mixed tumor resembling synovial sarcoma." [NCIT:C40276] synonym: "malignant vaginal mixed epithelial and mesenchymal neoplasm" EXACT [NCIT:C40276] synonym: "malignant vaginal mixed epithelial and mesenchymal tumor" EXACT [NCIT:C40276] +synonym: "malignant vaginal mixed epithelial and mesenchymal tumour" EXACT OMO:0003005 [] xref: NCIT:C40276 {source="MONDO:equivalentTo"} xref: UMLS:C1512974 {source="MONDO:equivalentTo", source="NCIT:C40276"} is_a: MONDO:0001402 {source="NCIT:C40276"} ! vaginal cancer @@ -430625,8 +436591,10 @@ id: MONDO:0040671 name: class V glucose-6-phosphate dehydrogenase deficiency comment: Editor note: TODO, see PMID:2633878 synonym: "favism" RELATED [Orphanet:362] +synonym: "G6PD class V variant anaemia" EXACT OMO:0003005 [] synonym: "G6PD class V variant anemia" EXACT [] synonym: "G6PD deficiency" BROAD [Orphanet:362] +synonym: "glucose-6-phosphate dehydrogenase deficiency class V variant anaemia" EXACT OMO:0003005 [] synonym: "glucose-6-phosphate dehydrogenase deficiency class V variant anemia" EXACT [] xref: Orphanet:362 {source="MONDO:equivalentObsolete"} xref: SCTID:80963002 {source="MONDO:equivalentTo"} @@ -430678,6 +436646,7 @@ synonym: "great vessel of heart cancer" EXACT [] synonym: "malignant great vessel neoplasm" EXACT [NCIT:C4575] synonym: "malignant great vessel of heart neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant great vessel tumor" EXACT [NCIT:C4575] +synonym: "malignant great vessel tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of great vessel of heart" EXACT [MONDO:patterns/cancer] xref: NCIT:C4575 {source="MONDO:equivalentTo"} xref: UMLS:C3665405 {source="MONDO:equivalentTo", source="NCIT:C4575"} @@ -430763,9 +436732,13 @@ intersection_of: disease_has_location UBERON:0004088 ! orbital region id: MONDO:0040728 name: Campylobacter fetus infectious disease synonym: "infection by Campylobacter fetus" EXACT [] +synonym: "infection by Campylobacter foetus" EXACT OMO:0003005 [] synonym: "infection by vibrio fetus" RELATED [] +synonym: "infection by vibrio foetus" RELATED OMO:0003005 [] synonym: "infection caused by Campylobacter fetus" RELATED [] +synonym: "infection caused by Campylobacter foetus" RELATED OMO:0003005 [] synonym: "infection caused by vibrio fetus" RELATED [] +synonym: "infection caused by vibrio foetus" RELATED OMO:0003005 [] xref: SCTID:111835002 {source="MONDO:equivalentTo"} xref: UMLS:C0275979 {source="MONDO:equivalentTo"} is_a: MONDO:0005688 {source="MONDO:Redundant"} ! campylobacteriosis @@ -430937,6 +436910,7 @@ intersection_of: disease_has_infectious_agent NCBITaxon:287 ! Pseudomonas aerugi id: MONDO:0041114 name: peripheral ischemia def: "Deficient blood distribution to the limbs caused by narrowing or obstruction of the lumen of the peripheral arteries." [MEDGEN:115991] +synonym: "peripheral ischaemic vascular disease" RELATED OMO:0003005 [] synonym: "peripheral ischemia" EXACT [] synonym: "peripheral ischemic vascular disease" RELATED [] xref: SCTID:233958001 {source="MONDO:equivalentTo"} @@ -431100,6 +437074,7 @@ synonym: "metastatic malignant neoplasm in the colon" EXACT [NCIT:C8411] synonym: "metastatic malignant neoplasm to the colon" EXACT [NCIT:C8411] synonym: "metastatic neoplasm to the colon" EXACT [NCIT:C8411] synonym: "metastatic tumor to the colon" EXACT [NCIT:C8411] +synonym: "metastatic tumour to the colon" EXACT OMO:0003005 [] xref: NCIT:C8411 {source="MONDO:equivalentTo"} xref: UMLS:C0346974 {source="NCIT:C8411", source="MONDO:equivalentTo"} is_a: MONDO:0024880 {source="MONDO:Redundant", source="NCIT:C4581", source="NCIT:C8411/inferred"} ! metastatic malignant neoplasm @@ -431217,6 +437192,7 @@ synonym: "bacterial meningitis caused by gram-negative bacteria" EXACT [] synonym: "bacterial meningitis due to gram-negative bacteria" EXACT [] synonym: "gram-negative bacterial meningitis" RELATED [] synonym: "meningitis with gram negative bacteria" RELATED [] +synonym: "meningitis with gramme negative bacteria" RELATED OMO:0003005 [] xref: SCTID:425887005 {source="MONDO:equivalentTo"} xref: UMLS:C0854215 {source="MONDO:equivalentTo"} intersection_of: MONDO:0006670 ! bacterial meningitis @@ -431226,10 +437202,12 @@ intersection_of: MONDO:0021678 ! gram-negative bacterial infections id: MONDO:0041850 name: pneumonia caused by gram negative bacteria synonym: "gram negative pneumonia" RELATED [] +synonym: "gramme negative pneumonia" RELATED OMO:0003005 [] synonym: "pneumonia caused by gram negative bacteria" EXACT [] synonym: "pneumonia caused by gram-negative bacteria" RELATED [] synonym: "pneumonia due to gram negative bacteria" EXACT [] synonym: "pneumonia due to gram-negative bacteria" RELATED [] +synonym: "pneumonia due to gramme negative bacteria" EXACT OMO:0003005 [] xref: SCTID:430395005 {source="MONDO:equivalentTo"} xref: UMLS:C0854248 {source="MONDO:equivalentTo"} intersection_of: MONDO:0004652 ! bacterial pneumonia @@ -431627,6 +437605,7 @@ synonym: "childhood melanoma" EXACT [NCIT:C131506] synonym: "childhood melanoma (disease)" EXACT [] synonym: "malignant melanoma, childhood" RELATED [GARD:0000091] synonym: "melanoma (disease) of childhood" EXACT [MONDO:patterns/childhood] +synonym: "paediatric melanoma (disease)" EXACT OMO:0003005 [] synonym: "pediatric melanoma (disease)" EXACT [MONDO:patterns/childhood] xref: NCIT:C131506 {source="MONDO:equivalentTo"} xref: UMLS:C4329660 {source="MONDO:equivalentTo"} @@ -432424,6 +438403,7 @@ relationship: disease_has_feature MONDO:0016064 {source="MESH:C536721"} ! cleft id: MONDO:0043075 name: neuroaxonal dystrophy renal tubular acidosis subset: gard_rare +synonym: "CNS disorder characterised by severe behavioural retardation, hypotonia, inability to talk, marked tremors, gait disturbances and inability to concentr" RELATED OMO:0003005 [] synonym: "CNS disorder characterized by severe behavioral retardation, hypotonia, inability to talk, marked tremors, gait disturbances and inability to concentr" RELATED [GARD:0000349] synonym: "Maccario Mena weir syndrome" RELATED [GARD:0000349, MESH:C537386] xref: MESH:C537386 {source="MONDO:equivalentTo"} @@ -432525,6 +438505,7 @@ subset: gard_rare synonym: "amorphous globosus" RELATED [] synonym: "amorphus globosus" RELATED [] synonym: "fetus anideus" RELATED [] +synonym: "foetus anideus" RELATED OMO:0003005 [] synonym: "Holoacardius amorphus" EXACT [] xref: Orphanet:2161 {source="MONDO:equivalentObsolete"} xref: SCTID:41049003 {source="MONDO:equivalentTo"} @@ -432755,6 +438736,7 @@ name: microphthalmia microtia fetal akinesia subset: gard_rare subset: ordo_malformation_syndrome synonym: "fetal akinesia with characteristic facial appearance, severe microphthalmia, microtia, and truncus arteriosus" RELATED [GARD:0003650] +synonym: "foetal akinesia with characteristic facial appearance, severe microphthalmia, microtia, and truncus arteriosus" RELATED OMO:0003005 [] synonym: "microphthalmia-microtia-fetal akinesia" RELATED [GARD:0003650] synonym: "Thomas Jewett Raines syndrome" RELATED [GARD:0003650] synonym: "Thomas-Jewett-Raines syndrome" RELATED [GARD:0003650] @@ -432783,6 +438765,7 @@ id: MONDO:0043154 name: neonatal ovarian cyst subset: gard_rare synonym: "fetal ovarian cyst" RELATED [GARD:0003934, MESH:C536396] +synonym: "foetal ovarian cyst" RELATED OMO:0003005 [] xref: MESH:C536396 {source="MONDO:equivalentTo"} xref: UMLS:C2931186 {source="MONDO:equivalentTo", source="GARD:0003934"} is_a: MONDO:0003282 {source="MESH:C536396"} ! ovarian cyst @@ -433186,6 +439169,7 @@ id: MONDO:0043240 name: hemophilic arthropathy def: "A form of arthritis that affects hemophiliacs, which is characterized by bleeding into the joint space." [NCIT:C27039] subset: gard_rare +synonym: "arthropathy in haemophilia" RELATED OMO:0003005 [] synonym: "arthropathy in hemophilia" RELATED [] synonym: "hemophilic arthritis" EXACT [NCIT:C27039] synonym: "hemophilic arthropathy" EXACT [] @@ -433222,6 +439206,7 @@ name: Mallory-Weiss syndrome def: "A disorder characterized by upper gastrointestinal tract bleeding caused by longitudinal mucosal tears in the gastroesophageal junction. The tears result from retching or forceful coughing. It was initially described in alcoholics." [NCIT:C84881] subset: gard_rare synonym: "gastro-esophageal laceration-hemorrhage syndrome" RELATED [] +synonym: "gastroesophageal laceration haemorrhage" RELATED OMO:0003005 [] synonym: "gastroesophageal laceration hemorrhage" RELATED [MESH:D008309] synonym: "gastroesophageal laceration-hemorrhage" RELATED [GARD:0006967, MESH:D008309] synonym: "gastroesophageal laceration-hemorrhage syndrome" RELATED [] @@ -433489,6 +439474,7 @@ name: linear scleroderma def: "A type of localized scleroderma characterized by a long strip of indurated skin, which is typically found unilaterally on an arm or leg, and sometimes on the forehead or trunk. This disorder often affects the tissues beneath the skin, causing damage to bones, muscle or other organs. It can limit movement, alter growth, and disfigure the affected area." [NCIT:C116780] subset: gard_rare synonym: "en coup de saber" RELATED [GARD:0009513] +synonym: "en coup de sabre" RELATED OMO:0003005 [] synonym: "linear morphea" RELATED [] synonym: "linear Scleroderma" EXACT [NCIT:C116780] synonym: "linear scleroderma" EXACT [] @@ -433762,6 +439748,7 @@ def: "Progressive transformation of germinal centers is a condition in which a l comment: Editor note: represents a finding in NCIT subset: gard_rare synonym: "progressive transformation of Germinal centers" EXACT [NCIT:C38408] +synonym: "progressive transformation of Germinal centres" EXACT OMO:0003005 [] synonym: "PTGC" RELATED ABBREVIATION [GARD:0010712] xref: MESH:C548085 {source="MONDO:equivalentTo"} xref: NCIT:C38408 {source="MONDO:equivalentTo"} @@ -433781,6 +439768,7 @@ synonym: "Masson's pseudosarcoma" EXACT [NCIT:C4391] synonym: "masson's pseudosarcoma" RELATED [] synonym: "Masson's pseudotumor" EXACT [NCIT:C4391] synonym: "Masson's tumor" RELATED [GARD:0010733] +synonym: "Masson's tumour" RELATED OMO:0003005 [] synonym: "Masson's vegetant hemangioma" EXACT [NCIT:C4391] synonym: "Masson's vegetant intravascular hemangio-endothelioma" RELATED [GARD:0010733] synonym: "papillary endothelial hyperplasia" EXACT [NCIT:C4391] @@ -434081,6 +440069,7 @@ synonym: "ectopic ACTH secretion syndrome" EXACT [NCIT:C4387] synonym: "ectopic ACTH syndrome" EXACT [MESH:D000182, NCIT:C4387] synonym: "ectopic ACTH syndromes" RELATED [MESH:D000182] synonym: "hypercortisolism due to nonpituitary tumor" EXACT [] +synonym: "hypercortisolism due to nonpituitary tumour" EXACT OMO:0003005 [] synonym: "syndrome, ectopic ACTH" RELATED [MESH:D000182] synonym: "syndromes, ectopic ACTH" RELATED [MESH:D000182] xref: MESH:D000182 {source="MONDO:equivalentTo"} @@ -434394,6 +440383,7 @@ synonym: "bywaters' syndrome" RELATED [] synonym: "crush kidney" RELATED [] synonym: "crush syndrome" EXACT [] synonym: "crush syndromes" RELATED [MESH:D003444] +synonym: "ischaemic muscular necrosis syndrome" RELATED OMO:0003005 [] synonym: "ischemic muscular necrosis syndrome" RELATED [] synonym: "myoglobinuric acute renal failure" RELATED [] synonym: "myoglobinuric nephrosis" RELATED [] @@ -434416,6 +440406,7 @@ synonym: "infantile diarrheal disease" EXACT [MONDO:design_pattern] synonym: "infantile Diarrheas" RELATED [MESH:D003968] synonym: "infantile onset diarrheal disease" EXACT [MONDO:design_pattern, MONDO:patterns/infantile] synonym: "toddler diarrhea" EXACT [] +synonym: "toddler diarrhoea" EXACT OMO:0003005 [] xref: MESH:D003968 {source="MONDO:equivalentTo"} xref: SCTID:39963006 {source="MONDO:equivalentTo"} xref: UMLS:C0473132 {source="MONDO:equivalentTo"} @@ -434983,7 +440974,9 @@ id: MONDO:0043875 name: tumor lysis syndrome def: "A condition of metabolic abnormalities that result from a spontaneous or therapy-related cytolysis of tumor cells. Tumor lysis syndrome typically occurs in aggressive, rapidly proliferating lymphoproliferative disorders. Burkitt lymphoma and T cell acute lymphoblastic leukemia are commonly associated with this syndrome. Metabolic abnormalities include hyperuricemia, lactic acidosis, hyperkalemia, hyperphosphatemia and hypocalcemia and may result in renal failure, multiple organ failure, and death." [NCIT:C3425] synonym: "syndrome, tumor lysis" RELATED [MESH:D015275] +synonym: "syndrome, tumour lysis" RELATED OMO:0003005 [] synonym: "syndromes, tumor lysis" RELATED [MESH:D015275] +synonym: "syndromes, tumour lysis" RELATED OMO:0003005 [] synonym: "tumor lysis syndrome" EXACT [MESH:D015275, NCIT:C3425] xref: EFO:1001479 {source="MONDO:equivalentTo"} xref: MESH:D015275 {source="MONDO:equivalentTo"} @@ -435390,6 +441383,7 @@ synonym: "posterior reversible encephalopathy syndrome" EXACT [] synonym: "PRES" EXACT ABBREVIATION [NCIT:C78598] synonym: "reversible occipital parietal encephalopathy" EXACT [NCIT:C78598] synonym: "reversible Posterior cerebral edema syndrome" EXACT [NCIT:C78598] +synonym: "reversible Posterior cerebral oedema syndrome" EXACT OMO:0003005 [] synonym: "reversible Posterior leukoencephalopathy syndrome" EXACT [NCIT:C78598] synonym: "reversible posterior leukoencephalopathy syndrome" EXACT [MESH:D054038, NCIT:C78598] synonym: "RPLE" EXACT ABBREVIATION [NCIT:C78598] @@ -437096,18 +443090,25 @@ def: "A benign, intermediate, or malignant neoplasm that affects the connective comment: Editor note: we follow NCIT in making this a grouping of all soft tissue and connective tissue neoplasms, including bone synonym: "connective and soft tissue neoplasm" EXACT [NCIT:C3810] synonym: "connective and soft tissue tumor" EXACT [NCIT:C3810] +synonym: "connective and soft tissue tumour" EXACT OMO:0003005 [] synonym: "musculoskeletal and soft tissue neoplasm" EXACT [NCIT:C3810] synonym: "musculoskeletal and soft tissue tumor" EXACT [NCIT:C3810] +synonym: "musculoskeletal and soft tissue tumour" EXACT OMO:0003005 [] synonym: "neoplasm of skeletal and soft tissue" EXACT [NCIT:C3810] synonym: "neoplasm of soft tissue and bone" EXACT [NCIT:C3810] synonym: "neoplasm of soft tissue and skeleton" EXACT [NCIT:C3810] synonym: "skeletal and soft tissue neoplasm" EXACT [NCIT:C3810] synonym: "skeletal and soft tissue tumor" EXACT [NCIT:C3810] +synonym: "skeletal and soft tissue tumour" EXACT OMO:0003005 [] synonym: "soft tissue and bone neoplasm" EXACT [NCIT:C3810] synonym: "soft tissue and bone tumor" EXACT [NCIT:C3810] +synonym: "soft tissue and bone tumour" EXACT OMO:0003005 [] synonym: "tumor of skeletal and soft tissue" EXACT [NCIT:C3810] synonym: "tumor of soft tissue and bone" EXACT [NCIT:C3810] synonym: "tumor of soft tissue and skeleton" EXACT [NCIT:C3810] +synonym: "tumour of skeletal and soft tissue" EXACT OMO:0003005 [] +synonym: "tumour of soft tissue and bone" EXACT OMO:0003005 [] +synonym: "tumour of soft tissue and skeleton" EXACT OMO:0003005 [] xref: NCIT:C3810 {source="MONDO:equivalentTo"} xref: UMLS:C0206765 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C3810"} is_a: MONDO:0005070 {source="NCIT:C3810/inferred"} ! neoplasm @@ -437120,8 +443121,11 @@ synonym: "benign neoplasm of soft tissue" EXACT [NCIT:C4242] synonym: "benign neoplasm of the soft tissue" EXACT [NCIT:C4242] synonym: "benign soft tissue neoplasm" EXACT [NCIT:C4242] synonym: "benign soft tissue tumor" EXACT [NCIT:C4242] +synonym: "benign soft tissue tumour" EXACT OMO:0003005 [] synonym: "benign tumor of soft tissue" EXACT [NCIT:C4242] synonym: "benign tumor of the soft tissue" EXACT [NCIT:C4242] +synonym: "benign tumour of soft tissue" EXACT OMO:0003005 [] +synonym: "benign tumour of the soft tissue" EXACT OMO:0003005 [] synonym: "soft tissue neoplasm, benign" EXACT [MONDO:patterns/benign] xref: ICDO:8800/0 {source="NCIT:C4242"} xref: NCIT:C4242 {source="MONDO:equivalentTo"} @@ -437173,21 +443177,32 @@ intersection_of: disease_arises_from_feature HP:0002960 ! Autoimmunity id: MONDO:0044339 name: lumbar disk degenerative disorder def: "Any degenerative disorder affecting one or more vertebral disks of the lumbar spine." [NCIT:C27154] +synonym: "degeneration of lumbar intervertebral disc" EXACT OMO:0003005 [] synonym: "degeneration of lumbar intervertebral disk" EXACT [] +synonym: "degenerative disc disease" BROAD OMO:0003005 [] +synonym: "degenerative disc disorder" BROAD OMO:0003005 [] synonym: "degenerative disk disease" BROAD [EFO:0004994] synonym: "degenerative disk disorder" BROAD [EFO:0004994] synonym: "IDD" BROAD ABBREVIATION [OMIM:603932] +synonym: "intervertebral disc degenerative disorder of lumbar region of vertebral column" EXACT OMO:0003005 [] synonym: "intervertebral DISC disease" BROAD [OMIM:603932] +synonym: "intervertebral disc disease" BROAD OMO:0003005 [] +synonym: "intervertebral disc disease, susceptibility to" EXACT OMO:0003005 [] synonym: "intervertebral disk degenerative disorder of lumbar region of vertebral column" EXACT [MONDO:design_pattern] synonym: "intervertebral disk disease" BROAD [EFO:0004994] synonym: "intervertebral disk disease, susceptibility to" EXACT [OMIM:603932, OMIM:genemap2] synonym: "lumbar Disc Degeneration" EXACT [NCIT:C27154] +synonym: "lumbar disc degeneration, susceptibility to" RELATED OMO:0003005 [] synonym: "lumbar Disc degenerative disease" EXACT [NCIT:C27154] synonym: "lumbar Disc degenerative disorder" EXACT [NCIT:C27154] +synonym: "lumbar disc disease" RELATED OMO:0003005 [] +synonym: "lumbar disc disease, susceptibility to" EXACT OMO:0003005 [] +synonym: "lumbar disc herniation, susceptibility to" RELATED OMO:0003005 [] synonym: "lumbar disk degeneration, susceptibility to" RELATED [OMIM:603932] synonym: "lumbar disk disease" RELATED [OMIM:603932] synonym: "lumbar disk disease, susceptibility to" EXACT [OMIM:603932, OMIM:genemap2] synonym: "lumbar disk herniation, susceptibility to" RELATED [OMIM:603932] +synonym: "lumbar region of vertebral column intervertebral disc degenerative disorder" EXACT OMO:0003005 [] synonym: "lumbar region of vertebral column intervertebral disk degenerative disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: EFO:0004994 {source="MONDO:equivalentTo"} xref: MESH:C535531 {source="EFO:0004994", source="MONDO:equivalentTo"} @@ -437207,11 +443222,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0044342 name: thoracic disk degenerative disorder def: "Any degenerative disorder affecting one or more vertebral disks of the thoracic spine." [NCIT:C27155] +synonym: "degeneration of thoracic intervertebral disc" EXACT OMO:0003005 [] synonym: "degeneration of thoracic intervertebral disk" EXACT [] +synonym: "intervertebral disc degenerative disorder of thoracic region of vertebral column" EXACT OMO:0003005 [] synonym: "intervertebral disk degenerative disorder of thoracic region of vertebral column" EXACT [MONDO:design_pattern] synonym: "thoracic Disc Degeneration" EXACT [NCIT:C27155] synonym: "thoracic Disc degenerative disease" EXACT [NCIT:C27155] synonym: "thoracic Disc degenerative disorder" EXACT [NCIT:C27155] +synonym: "thoracic region of vertebral column intervertebral disc degenerative disorder" EXACT OMO:0003005 [] synonym: "thoracic region of vertebral column intervertebral disk degenerative disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: NCIT:C27155 {source="MONDO:equivalentTo"} xref: SCTID:68675004 {source="MONDO:equivalentTo"} @@ -437227,8 +443245,11 @@ def: "Any degenerative disorder affecting one or more vertebral disks of the cer synonym: "cervical Disc Degeneration" EXACT [NCIT:C27156] synonym: "cervical Disc degenerative disease" EXACT [NCIT:C27156] synonym: "cervical Disc degenerative disorder" EXACT [NCIT:C27156] +synonym: "cervical region of vertebral column intervertebral disc degenerative disorder" EXACT OMO:0003005 [] synonym: "cervical region of vertebral column intervertebral disk degenerative disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] +synonym: "degeneration of cervical intervertebral disc" EXACT OMO:0003005 [] synonym: "degeneration of cervical intervertebral disk" EXACT [] +synonym: "intervertebral disc degenerative disorder of cervical region of vertebral column" EXACT OMO:0003005 [] synonym: "intervertebral disk degenerative disorder of cervical region of vertebral column" EXACT [MONDO:design_pattern] xref: NCIT:C27156 {source="MONDO:equivalentTo"} xref: SCTID:69195002 {source="MONDO:equivalentTo"} @@ -437310,6 +443331,8 @@ intersection_of: disease_has_location CL:0000232 ! erythrocyte id: MONDO:0044348 name: hemoglobinopathy synonym: "globin abnormality" RELATED [] +synonym: "haemoglobin disease" RELATED OMO:0003005 [] +synonym: "haemoglobin disorder" RELATED OMO:0003005 [] synonym: "hemoglobin disease" RELATED [] synonym: "hemoglobin disorder" RELATED [] synonym: "hemoglobinopathy" EXACT [] @@ -437686,6 +443709,7 @@ id: MONDO:0044645 name: familial monosomy 7 syndrome def: "A rare neoplastic disease characterized by infantile to childhood onset of evidence of bone marrow insufficiency/failure associated with increased risk for myelodysplastic syndrome or acute myeloid leukemia. Most patients present with petechiae, easy bruising, or anemia. Rapid progression is common, and prognosis is generally poor." [Orphanet:495930] subset: ordo_disease +synonym: "monosomy 7 myelodysplasia and leukaemia syndrome" EXACT OMO:0003005 [] synonym: "monosomy 7 myelodysplasia and leukemia syndrome" EXACT [MONDO:0031178] xref: OMIMPS:252270 {source="MONDO:equivalentTo"} xref: Orphanet:495930 {source="MONDO:equivalentTo"} @@ -438352,11 +444376,14 @@ def: "A primary or metastatic malignant neoplasm affecting the major salivary gl synonym: "cancer of major salivary gland" EXACT [MONDO:patterns/cancer] synonym: "malignant major salivary gland neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4762] synonym: "malignant major salivary gland tumor" EXACT [NCIT:C4762] +synonym: "malignant major salivary gland tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of major salivary gland" EXACT [MONDO:patterns/cancer, NCIT:C4762] synonym: "malignant neoplasm of major salivary glands" RELATED [] synonym: "malignant neoplasm of the major salivary gland" EXACT [NCIT:C4762] synonym: "malignant tumor of major salivary gland" EXACT [NCIT:C4762] synonym: "malignant tumor of the major salivary gland" EXACT [NCIT:C4762] +synonym: "malignant tumour of major salivary gland" EXACT OMO:0003005 [] +synonym: "malignant tumour of the major salivary gland" EXACT OMO:0003005 [] xref: DOID:8850 xref: NCIT:C4762 {source="MONDO:equivalentTo"} xref: SCTID:363378008 {source="MONDO:equivalentTo"} @@ -438477,6 +444504,7 @@ id: MONDO:0044751 name: chronic diarrheal disease def: "Chronic form of diarrheal disease." [MONDO:patterns/chronic] synonym: "chronic diarrhea" EXACT [] +synonym: "chronic diarrhoea" EXACT OMO:0003005 [] synonym: "diarrheal disease, chronic" EXACT [MONDO:patterns/chronic] xref: SCTID:236071009 {source="MONDO:equivalentTo"} xref: UMLS:C0401151 {source="MONDO:equivalentTo"} @@ -438505,7 +444533,9 @@ id: MONDO:0044762 name: diarrheal disease secondary to increased bowel motility def: "A diarrhea that results from increased motility in the bowel; significant increases in bowel motility can deliver excessively large volumes of stool to the colon. Diarrhea can result when the maximum colonic absorptive capacity of 4 liters a day is exceeded. Also, an alteration in colonic motility such that bowel contents are emptied before adequate absorption can occur has been offered as a possible explanation for the diarrhea associated with irritable bowel disease." [https://www.ncbi.nlm.nih.gov/books/NBK414/] synonym: "diarrhea from increased bowel motility" EXACT [] +synonym: "diarrhoea from increased bowel motility" EXACT OMO:0003005 [] synonym: "motility-related diarrhea" BROAD [DOID:0050131] +synonym: "motility-related diarrhoea" BROAD OMO:0003005 [] xref: DOID:0050131 {source="MONDO:equivalentTo"} is_a: MONDO:0000251 ! diarrheal disease secondary to altered bowel motility @@ -438514,6 +444544,7 @@ id: MONDO:0044763 name: diarrheal disease secondary to decreased bowel motility def: "A diarrhea that results from decreased motility in the bowel; the resultant bowel stasis encourages bacterial overgrowth and subsequent bile salt deconjugation. Diarrhea is then the direct result of fat malabsorption and increased colonic secretion." [https://www.ncbi.nlm.nih.gov/books/NBK414/] synonym: "diarrhea from decreased bowel motility" EXACT [] +synonym: "diarrhoea from decreased bowel motility" EXACT OMO:0003005 [] is_a: MONDO:0000251 ! diarrheal disease secondary to altered bowel motility [Term] @@ -438523,10 +444554,14 @@ synonym: "benign choroid plexus neoplasm" EXACT [NCIT:C8405] synonym: "benign choroid plexus neoplasms" EXACT [NCIT:C8405] synonym: "benign choroid plexus tumor" EXACT [NCIT:C8405] synonym: "benign choroid plexus tumors" EXACT [NCIT:C8405] +synonym: "benign choroid plexus tumour" EXACT OMO:0003005 [] +synonym: "benign choroid plexus tumours" EXACT OMO:0003005 [] synonym: "benign neoplasm of choroid plexus" EXACT [NCIT:C8405] synonym: "benign neoplasm of the choroid plexus" EXACT [NCIT:C8405] synonym: "benign tumor of choroid plexus" EXACT [NCIT:C8405] synonym: "benign tumor of the choroid plexus" EXACT [NCIT:C8405] +synonym: "benign tumour of choroid plexus" EXACT OMO:0003005 [] +synonym: "benign tumour of the choroid plexus" EXACT OMO:0003005 [] xref: NCIT:C8405 {source="MONDO:equivalentTo"} xref: SCTID:254943007 {source="MONDO:equivalentTo"} xref: UMLS:C0346290 {source="MONDO:equivalentTo"} @@ -438669,7 +444704,10 @@ def: "An ulcerated lesion in the esophageal wall." [NCIT:C26950] synonym: "esophageal ulcer" EXACT [NCIT:C26950] synonym: "esophagus ulcer" EXACT [] synonym: "esophagus ulcer disease" EXACT [MONDO:design_pattern, MONDO:patterns/location] +synonym: "oesophagus ulcer" EXACT OMO:0003005 [] +synonym: "oesophagus ulcer disease" EXACT OMO:0003005 [] synonym: "ulcer disease of esophagus" EXACT [MONDO:design_pattern] +synonym: "ulcer disease of oesophagus" EXACT OMO:0003005 [] xref: HP:0004791 {source="MONDO:otherHierarchy"} xref: NCIT:C26950 {source="MONDO:equivalentTo"} is_a: MONDO:0003749 {source="MONDO:Redundant", source="NCIT:C26950/inferred"} ! esophageal disorder @@ -438718,8 +444756,10 @@ id: MONDO:0044786 name: solid pseudopapillary neoplasm of the pancreas def: "A low-grade malignant neoplasm that arises from the exocrine pancreas. It is characterized by the presence of uniform cells that form solid and pseudopapillary patterns, cystic changes, and hemorrhage. Perineural invasion, vascular invasion, and invasion into surrounding tissues may be present. It usually presents as an encapsulated, solitary, and lobulated pancreatic mass. It is usually found incidentally during physical examination or it may present with abdominal discomfort and pain. It occurs predominantly in young women. Complete removal of the tumor is curative in the majority of cases." [NCIT:C37212] synonym: "Frantz tumor" EXACT [NCIT:C37212] +synonym: "Frantz tumour" EXACT OMO:0003005 [] synonym: "solid pseudopapillary neoplasm of the pancreas" EXACT [NCIT:C37212] synonym: "solid pseudopapillary tumor of the pancreas" EXACT [NCIT:C37212] +synonym: "solid pseudopapillary tumour of the pancreas" EXACT OMO:0003005 [] xref: NCIT:C37212 {source="MONDO:equivalentTo", source="ONCOTREE:SPN"} xref: ONCOTREE:SPN {source="MONDO:equivalentTo"} xref: UMLS:C1336030 {source="MONDO:notFoundInDiseaseSubset", source="ONCOTREE:SPN"} @@ -439123,8 +445163,11 @@ id: MONDO:0044878 name: adult germ cell tumor def: "A germ cell tumor that occurs during adulthood." [NCIT:C114777] synonym: "Adult germ cell tumor" EXACT [NCIT:C114777] +synonym: "Adult germ cell tumour" EXACT OMO:0003005 [] synonym: "germ cell tumor" BROAD [NCIT:C114777] synonym: "germ cell tumor of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] +synonym: "germ cell tumour" BROAD OMO:0003005 [] +synonym: "germ cell tumour of adults" EXACT OMO:0003005 [] xref: NCIT:C114777 {source="MONDO:equivalentTo"} is_a: MONDO:0005040 {source="MONDO:Redundant", source="NCIT:C114777"} ! germ cell tumor intersection_of: MONDO:0005040 ! germ cell tumor @@ -439158,6 +445201,15 @@ is_a: MONDO:0021076 ! pancreatic exocrine neoplasm id: MONDO:0044881 name: hematopoietic and lymphoid cell neoplasm def: "A neoplasm arising from hematopoietic cells found in the bone marrow, peripheral blood, lymph nodes and spleen (organs of the hematopoietic system). Hematopoietic cell neoplasms can also involve other anatomic sites (e.g. central nervous system, gastrointestinal tract), either by metastasis, direct tumor infiltration, or neoplastic transformation of extranodal lymphoid tissues. The commonest forms are the various types of leukemia, Hodgkin and non-Hodgkin lymphomas, myeloproliferative neoplasms, and myelodysplastic syndromes." [NCIT:C27134] +synonym: "haematological neoplasm" EXACT OMO:0003005 [] +synonym: "haematological tumour" EXACT OMO:0003005 [] +synonym: "haematopoietic and lymphoid neoplasms" EXACT OMO:0003005 [] +synonym: "haematopoietic cancer" EXACT OMO:0003005 [] +synonym: "haematopoietic cell tumour" EXACT OMO:0003005 [] +synonym: "haematopoietic malignancy, NOS" EXACT OMO:0003005 [] +synonym: "haematopoietic neoplasm" EXACT OMO:0003005 [] +synonym: "haematopoietic neoplasms including lymphomas" EXACT OMO:0003005 [] +synonym: "haematopoietic tumour" EXACT OMO:0003005 [] synonym: "hematologic cancer" EXACT [NCIT:C27134] synonym: "hematologic malignancy" EXACT [NCIT:C27134] synonym: "hematologic neoplasm" EXACT [NCIT:C27134] @@ -439173,6 +445225,7 @@ synonym: "hematopoietic neoplasms including lymphomas" EXACT [NCIT:C27134] synonym: "hematopoietic tumor" EXACT [NCIT:C27134] synonym: "hematopoietic, Including myeloma" EXACT [NCIT:C27134] synonym: "HEMOLYMPHORETICULAR tumor, malignant" EXACT [NCIT:C27134] +synonym: "malignant haematopoietic neoplasm" EXACT OMO:0003005 [] synonym: "malignant hematologic neoplasm" EXACT [NCIT:C27134] synonym: "malignant hematopoietic neoplasm" EXACT [NCIT:C27134] xref: ICD10CM:C81-C96 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} @@ -439288,8 +445341,10 @@ synonym: "Metastatic malignant neoplasm in the spinal cord" EXACT [NCIT:C4585] synonym: "Metastatic malignant neoplasm to the spinal cord" EXACT [NCIT:C4585] synonym: "Metastatic neoplasm to the spinal cord" EXACT [NCIT:C4585] synonym: "Metastatic tumor to the spinal cord" EXACT [NCIT:C4585] +synonym: "Metastatic tumour to the spinal cord" EXACT OMO:0003005 [] synonym: "Secondary malignant neoplasm to the spinal cord" EXACT [NCIT:C4585] synonym: "Secondary malignant tumor to the spinal cord" EXACT [NCIT:C4585] +synonym: "Secondary malignant tumour to the spinal cord" EXACT OMO:0003005 [] xref: NCIT:C4585 {source="MONDO:equivalentTo"} xref: SCTID:94600009 {source="MONDO:equivalentTo"} xref: UMLS:C0347016 {source="MONDO:equivalentTo"} @@ -439310,6 +445365,7 @@ synonym: "Metastatic malignant neoplasm in the eye" EXACT [NCIT:C4586] synonym: "Metastatic malignant neoplasm to the eye" EXACT [NCIT:C4586] synonym: "Metastatic neoplasm to the eye" EXACT [NCIT:C4586] synonym: "Metastatic tumor to the eye" EXACT [NCIT:C4586] +synonym: "Metastatic tumour to the eye" EXACT OMO:0003005 [] xref: NCIT:C4586 {source="MONDO:equivalentTo"} xref: SCTID:94292003 {source="MONDO:equivalentTo"} xref: UMLS:C0347019 {source="MONDO:equivalentTo"} @@ -439342,6 +445398,7 @@ def: "A rhabdoid tumor which arises in the soft tissues. It occurs in infants an synonym: "extrarenal rhabdoid tumor" EXACT [NCIT:C6586] synonym: "malignant extrarenal rhabdoid neoplasm" EXACT [NCIT:C6586] synonym: "rhabdoid tumor of soft tissue" EXACT [NCIT:C6586] +synonym: "rhabdoid tumour of soft tissue" EXACT OMO:0003005 [] xref: NCIT:C6586 {source="MONDO:equivalentTo"} xref: SCTID:404089007 {source="MONDO:equivalentTo"} xref: UMLS:C1304517 {source="MONDO:equivalentTo"} @@ -439376,8 +445433,11 @@ synonym: "malignant neoplasm of renal pelvis" EXACT [MONDO:patterns/cancer, NCIT synonym: "malignant neoplasm of the renal pelvis" EXACT [NCIT:C7525] synonym: "malignant renal pelvis neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7525] synonym: "malignant renal pelvis tumor" EXACT [NCIT:C7525] +synonym: "malignant renal pelvis tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of renal pelvis" EXACT [NCIT:C7525] synonym: "malignant tumor of the renal pelvis" EXACT [NCIT:C7525] +synonym: "malignant tumour of renal pelvis" EXACT OMO:0003005 [] +synonym: "malignant tumour of the renal pelvis" EXACT OMO:0003005 [] synonym: "renal pelvis cancer" EXACT [] xref: NCIT:C7525 {source="MONDO:equivalentTo"} is_a: MONDO:0002367 {source="MONDO:Redundant", source="NCIT:C7525"} ! kidney cancer @@ -439400,6 +445460,7 @@ is_a: MONDO:0060782 {source="NCIT:C7764"} ! premalignant hematological system di id: MONDO:0044923 name: acute myeloid leukemia with mutated NPM1 def: "An acute myeloid leukemia with mutation of the nucleophosmin gene. It is usually associated with normal karyotype and frequently has myelomonocytic or monocytic features. It usually responds to induction therapy." [NCIT:C82431] +synonym: "acute myeloid leukaemia with cytoplasmic nucleophosmin" EXACT OMO:0003005 [] synonym: "acute myeloid leukemia with cytoplasmic nucleophosmin" EXACT [NCIT:C82431] synonym: "acute myeloid leukemia with mutated NPM1" EXACT [NCIT:C82431] synonym: "acute myeloid leukemia, NPM1 gene mutation" EXACT [MONDO:0100411] @@ -439667,13 +445728,17 @@ def: "A benign mesenchymal neoplasm composed of adipose (fatty) tissue. The most synonym: "adipose tissue benign connective and soft tissue neoplasm" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "benign adipose tissue neoplasm" EXACT [NCIT:C4502] synonym: "benign adipose tissue tumor" EXACT [NCIT:C4502] +synonym: "benign adipose tissue tumour" EXACT OMO:0003005 [] synonym: "benign connective and soft tissue neoplasm of adipose tissue" EXACT [MONDO:design_pattern] synonym: "benign lipomatous neoplasm" EXACT [NCIT:C4502] synonym: "benign lipomatous tumor" EXACT [NCIT:C4502] +synonym: "benign lipomatous tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of adipose tissue" EXACT [NCIT:C4502] synonym: "benign neoplasm of the adipose tissue" EXACT [NCIT:C4502] synonym: "benign tumor of adipose tissue" RELATED [NCIT:C4502] synonym: "benign tumor of the adipose tissue" EXACT [NCIT:C4502] +synonym: "benign tumour of adipose tissue" RELATED OMO:0003005 [] +synonym: "benign tumour of the adipose tissue" EXACT OMO:0003005 [] xref: NCIT:C4502 {source="MONDO:equivalentTo"} is_a: MONDO:0000654 {source="MONDO:Redundant", source="NCIT:C4502"} ! benign connective and soft tissue neoplasm is_a: MONDO:0021354 {source="MONDO:Redundant", source="NCIT:C4502"} ! tumor of adipose tissue @@ -440176,7 +446241,9 @@ consider: MONDO:0002041 id: MONDO:0045030 name: non-infectious diarrheal disease synonym: "non-infective diarrhea" EXACT [] +synonym: "non-infective diarrhoea" EXACT OMO:0003005 [] synonym: "presumed non-infectious diarrhea" RELATED [] +synonym: "presumed non-infectious diarrhoea" RELATED OMO:0003005 [] xref: SCTID:69980003 {source="MONDO:equivalentTo"} xref: UMLS:C0267436 {source="MONDO:equivalentTo"} is_a: MONDO:0001673 ! diarrheal disease @@ -440260,6 +446327,7 @@ is_a: MONDO:0021125 ! disease characteristic [Term] id: MONDO:0045042 name: restricted to specific location +synonym: "localised" EXACT OMO:0003005 [] synonym: "localized" EXACT [] is_a: MONDO:0045040 ! locational disease characteristic @@ -440382,8 +446450,10 @@ name: benign osteogenic neoplasm def: "A non-metastasizing bone-forming neoplasm. This category includes osteoma, osteoid osteoma, and osteoblastoma." [NCIT:C6602] synonym: "benign osseous neoplasm" RELATED [NCIT:C6602] synonym: "benign osseous tumor" RELATED [NCIT:C6602] +synonym: "benign osseous tumour" RELATED OMO:0003005 [] synonym: "benign osteogenic neoplasm" EXACT [NCIT:C6602] synonym: "benign osteogenic tumor" EXACT [NCIT:C6602] +synonym: "benign osteogenic tumour" EXACT OMO:0003005 [] synonym: "osteogenic neoplasm, benign" EXACT [MONDO:patterns/benign] xref: NCIT:C6602 {source="MONDO:equivalentTo"} xref: UMLS:C1332523 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C6602"} @@ -440398,8 +446468,10 @@ name: osteogenic neoplasm def: "A benign, intermediate, or malignant bone-forming neoplasm. Representative examples include osteoma, osteoblastoma, and osteosarcoma." [NCIT:C6603] synonym: "osseous neoplasm" RELATED [NCIT:C6603] synonym: "osseous tumor" RELATED [NCIT:C6603] +synonym: "osseous tumour" RELATED OMO:0003005 [] synonym: "osteogenic neoplasm" EXACT [NCIT:C6603] synonym: "osteogenic tumor" EXACT [NCIT:C6603] +synonym: "osteogenic tumour" EXACT OMO:0003005 [] xref: NCIT:C6603 {source="MONDO:equivalentTo"} xref: UMLS:C1335146 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C6603"} is_a: MONDO:0002616 {source="MONDO:Redundant", source="NCIT:C6603"} ! mesenchymal cell neoplasm @@ -440465,17 +446537,25 @@ synonym: "ACTH producing pituitary gland neoplasm" EXACT [NCIT:C7909] synonym: "ACTH-producing pituitary gland neoplasm" EXACT [NCIT:C7909] synonym: "ACTH-producing pituitary neoplasm" EXACT [NCIT:C7909] synonym: "ACTH-producing pituitary tumor" EXACT [NCIT:C7909] +synonym: "ACTH-producing pituitary tumour" EXACT OMO:0003005 [] synonym: "ACTH-secreting tumor of pituitary" EXACT [NCIT:C7909] synonym: "ACTH-secreting tumor of the pituitary" EXACT [NCIT:C7909] +synonym: "ACTH-secreting tumour of pituitary" EXACT OMO:0003005 [] +synonym: "ACTH-secreting tumour of the pituitary" EXACT OMO:0003005 [] synonym: "adrenocorticotropin producing pituitary gland tumor" EXACT [NCIT:C7909] +synonym: "adrenocorticotropin producing pituitary gland tumour" EXACT OMO:0003005 [] synonym: "adrenocorticotropin secreting neoplasm of pituitary" EXACT [NCIT:C7909] synonym: "adrenocorticotropin secreting neoplasm of the pituitary" EXACT [NCIT:C7909] synonym: "adrenocorticotropin secreting pituitary gland tumor" EXACT [NCIT:C7909] +synonym: "adrenocorticotropin secreting pituitary gland tumour" EXACT OMO:0003005 [] synonym: "adrenocorticotropin secreting tumor of pituitary" EXACT [NCIT:C7909] synonym: "adrenocorticotropin secreting tumor of the pituitary" EXACT [NCIT:C7909] +synonym: "adrenocorticotropin secreting tumour of pituitary" EXACT OMO:0003005 [] +synonym: "adrenocorticotropin secreting tumour of the pituitary" EXACT OMO:0003005 [] synonym: "corticotropin secreting pituitary gland neoplasm" EXACT [NCIT:C7909] synonym: "pituitary corticotropin secreting neoplasm" EXACT [NCIT:C7909] synonym: "pituitary corticotropin secreting tumor" EXACT [NCIT:C7909] +synonym: "pituitary corticotropin secreting tumour" EXACT OMO:0003005 [] xref: NCIT:C7909 {source="MONDO:equivalentObsolete"} xref: UMLS:C0278862 {source="MONDO:equivalentTo"} intersection_of: MONDO:0005070 ! neoplasm @@ -440658,6 +446738,7 @@ synonym: "avascular necrosis of femoral head, primary, 1" EXACT [OMIM:608805] synonym: "avascular necrosis of the femoral head" EXACT [OMIM:608805, OMIM:genemap2] synonym: "femoral head, aseptic necrosis of" RELATED [OMIM:608805] synonym: "Femoral head, avascular necrosis of" RELATED [OMIM:608805] +synonym: "ischaemic necrosis of femoral head" RELATED OMO:0003005 [] synonym: "ischemic necrosis of femoral head" RELATED [OMIM:608805] synonym: "osteonecrosis of femoral head" RELATED [OMIM:608805] xref: OMIM:608805 {source="MONDO:equivalentTo"} @@ -441963,7 +448044,11 @@ def: "A disease that has its basis in the disruption of sulfur compound metaboli synonym: "disorder of sulfur compound metabolic process" EXACT [MONDO:patterns/basis_in_disruption_of_process] synonym: "disorder of sulfur metabolic process" EXACT [] synonym: "disorder of sulfur metabolism" EXACT [] +synonym: "disorder of sulphur compound metabolic process" EXACT OMO:0003005 [] +synonym: "disorder of sulphur metabolic process" EXACT OMO:0003005 [] +synonym: "disorder of sulphur metabolism" EXACT OMO:0003005 [] synonym: "sulfur compound metabolic process disease" EXACT [] +synonym: "sulphur compound metabolic process disease" EXACT OMO:0003005 [] xref: SCTID:123809005 {source="MONDO:equivalentTo"} xref: UMLS:C1263724 {source="MONDO:equivalentTo"} is_a: MONDO:0000226 ! mineral metabolism disease @@ -441987,9 +448072,13 @@ synonym: "benign granular cell neoplasm of the peripheral nerve" EXACT [NCIT:C55 synonym: "benign granular cell tumor of nerve" EXACT [] synonym: "benign granular cell tumor of peripheral nerve" EXACT [NCIT:C5502] synonym: "benign granular cell tumor of the peripheral nerve" EXACT [NCIT:C5502] +synonym: "benign granular cell tumour of nerve" EXACT OMO:0003005 [] +synonym: "benign granular cell tumour of peripheral nerve" EXACT OMO:0003005 [] +synonym: "benign granular cell tumour of the peripheral nerve" EXACT OMO:0003005 [] synonym: "benign peripheral nerve granular cell neoplasm" EXACT [NCIT:C5502] synonym: "benign peripheral nerve granular cell tumor" EXACT [NCIT:C5502] synonym: "nerve benign granular cell tumor" EXACT [MONDO:patterns/location] +synonym: "nerve benign granular cell tumour" EXACT OMO:0003005 [] xref: NCIT:C5502 {source="MONDO:equivalentTo"} xref: UMLS:C1332530 {source="MONDO:equivalentTo"} is_a: MONDO:0001406 {source="NCIT:C5502"} ! peripheral nervous system neoplasm @@ -442788,6 +448877,7 @@ name: phenytoin toxicity synonym: "arene oxide detoxification defect" RELATED [OMIM:617955] synonym: "diphenylhydantoin, defect in hydroxylation of" RELATED [OMIM:617955] synonym: "fetal hydantoin syndrome" RELATED [OMIM:617955] +synonym: "foetal hydantoin syndrome" RELATED OMO:0003005 [] synonym: "phenytoin toxicity" EXACT [OMIM:617955] xref: OMIM:617955 {source="MONDO:equivalentTo"} is_a: MONDO:0029000 {source="https://orcid.org/0000-0001-7151-1615"} ! poisoning @@ -442990,6 +449080,7 @@ id: MONDO:0060760 name: intellectual developmental disorder with dysmorphic facies and behavioral abnormalities synonym: "IDDFBA" RELATED ABBREVIATION [OMIM:618089] synonym: "INTELLECTUAL developmental disorder with DYSMORPHIC facies and behavioral abnormalities" RELATED [OMIM:618089] +synonym: "INTELLECTUAL developmental disorder with DYSMORPHIC facies and behavioural abnormalities" RELATED OMO:0003005 [] xref: OMIM:618089 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability is_a: MONDO:0003847 ! hereditary disease @@ -443344,6 +449435,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-520 [Term] id: MONDO:0100015 name: adult-onset segmental dystonia +synonym: "an adult-onset, focal or segmental, isolated dystonia that is characterised by cervical or cranial dystonia that often begins in the fourth decade (range 7-54 years)." EXACT OMO:0003005 [] synonym: "an adult-onset, focal or segmental, isolated dystonia that is characterized by cervical or cranial dystonia that often begins in the fourth decade (range 7-54 years)." EXACT [PMID:23222958] synonym: "DYT-GNAL" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/] is_a: MONDO:0000479 {source="MONDO:cjm"} ! segmental dystonia @@ -443354,9 +449446,12 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-520 [Term] id: MONDO:0100016 name: early-onset generalized dystonia +synonym: "A generalised isolated dystonia characterised by early-onset, which may be clinically indistinguishable from DYT-TOR1A and may be the most common cause of early-onset generalised dystonia, at least outside the Askenazi Jewish population." EXACT OMO:0003005 [] synonym: "A generalized isolated dystonia characterized by early-onset, which may be clinically indistinguishable from DYT-TOR1A and may be the most common cause of early-onset generalized dystonia, at least outside the Askenazi Jewish population." EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/, PMID:27839873, PMID:27992417] synonym: "DYT-KMT2B" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/] +synonym: "early-onset generalised isolated dystonia" RELATED OMO:0003005 [] synonym: "early-onset generalized isolated dystonia" RELATED [] +synonym: "early-onset, generalised dystonia with mild syndromic features" EXACT OMO:0003005 [] synonym: "early-onset, generalized dystonia with mild syndromic features" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/] is_a: MONDO:0000476 ! generalized dystonia property_value: http://purl.org/dc/elements/1.1/date "2018-05-25T20:53:07Z" xsd:dateTime @@ -444153,7 +450248,9 @@ name: hereditary thrombocytopenia and hematological cancer predisposition syndro def: "This is an autosomal dominant disorder caused by mutations in the RUNX1 gene and is characterized by mild to moderate thrombocytopenia, platelet functional and/or ultrastructural defects and a predisposition to hematologic malignancies, most often AML and MDS, and less frequently T-ALL." [https://clinicalgenome.org/affiliation/50034/] synonym: "asprin-like platelet disorder" RELATED [GARD:0010352, https://clinicalgenome.org/affiliation/50034/] synonym: "familial platelet disorder with associated myeloid malignancy" EXACT [https://clinicalgenome.org/affiliation/50034/, Orphanet:71290] +synonym: "familial platelet syndrome with predisposition to acute myelogenous leukaemia" EXACT OMO:0003005 [] synonym: "familial platelet syndrome with predisposition to acute myelogenous leukemia" EXACT [https://clinicalgenome.org/affiliation/50034/, Orphanet:71290] +synonym: "familial thrombocytopenia with propensity to acute myelogenous leukaemia" RELATED OMO:0003005 [] synonym: "familial thrombocytopenia with propensity to acute myelogenous leukemia" RELATED [GARD:0010352, https://clinicalgenome.org/affiliation/50034/] synonym: "FPD/AML syndrome" EXACT [https://clinicalgenome.org/affiliation/50034/, Orphanet:71290] synonym: "FPDMM" RELATED ABBREVIATION [https://clinicalgenome.org/affiliation/50034/, MONDO:Lexical, OMIM:601399] @@ -444161,6 +450258,7 @@ synonym: "FPS/AML syndrome" EXACT [https://clinicalgenome.org/affiliation/50034/ synonym: "hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1" EXACT CLINGEN_PREFERRED [] synonym: "platelet disorder, aspirin-like" RELATED [https://clinicalgenome.org/affiliation/50034/, OMIM:601399] synonym: "platelet disorder, familial, with associated myeloid malignancy" RELATED [https://clinicalgenome.org/affiliation/50034/, MONDO:Lexical, OMIM:601399] +synonym: "thrombocytopenia, familial, with propensity to acute myelogenous leukaemia" RELATED OMO:0003005 [] synonym: "thrombocytopenia, familial, with propensity to acute myelogenous leukemia" RELATED [https://clinicalgenome.org/affiliation/50034/, OMIM:601399] xref: OMIM:601399 {source="Orphanet:71290/e", source="MONDO:equivalentTo", source="Orphanet:71290"} is_a: MONDO:0011071 {source="https://clinicalgenome.org/affiliation/50034/"} ! hereditary thrombocytopenia and hematologic cancer predisposition syndrome @@ -444625,6 +450723,7 @@ name: SCN4A-related myopathy, autosomal recessive def: "Any congenital myopathy in which the cause of the disease is a mutation in the SCN4A gene. It include is a spectrum of autosomal recessive disorders including congenital myasthenic syndrome, fetal hypokinesia, and congenital myopathy." [https://www.clinicalgenome.org/affiliation/40061/, MONDO:patterns/disease_series_by_gene] synonym: "congenital myopathy with \"corona\" fibers, selective muscle atrophy, and craniosynostosis" EXACT [] synonym: "congenital myopathy with severe fetal hypokinesia" EXACT [] +synonym: "congenital myopathy with severe foetal hypokinesia" EXACT OMO:0003005 [] synonym: "myopathy with ptosis and mild dystrophic pattern" EXACT [] synonym: "SCN4A-related myopathy, autosomal recessive" EXACT CLINGEN_PREFERRED [] is_a: MONDO:0019952 {source="https://www.clinicalgenome.org/affiliation/40061/"} ! congenital myopathy @@ -445057,6 +451156,7 @@ synonym: "enterocyte cobalamin malabsorption" EXACT [OMIM:261100] synonym: "enterocyte intrinsic factor receptor, defect of" EXACT [OMIM:261100] synonym: "Imerslund-Grasbeck syndrome 1" EXACT [OMIM:261100, OMIM:genemap2] synonym: "Imerslund-Grasbeck syndrome type 1" EXACT CLINGEN_PREFERRED [] +synonym: "megaloblastic Anaemia type 1" EXACT OMO:0003005 [] synonym: "megaloblastic Anemia type 1" EXACT [MONDORULE:1, OMIM:261100] synonym: "megaloblastic anemia, 1" EXACT [OMIM:261100] synonym: "megaloblastic anemia, Finnish type" EXACT [OMIM:261100] @@ -445143,6 +451243,7 @@ id: MONDO:0100163 name: COVID-19–associated multisystem inflammatory syndrome in children def: "A inflammatory syndrome in children infected by the SARS-CoV-2 with similarities to Kawasaki disease. Clinical manifestations range from fever and inflammation to myocardial injury, shock, and development of coronary artery aneurysms." [PMID:32511692, PMID:32529358, PMID:32630212] comment: The clinical presentation of MIS-C includes fever, severe illness, and the involvement of two or more organ systems, in combination with laboratory evidence of inflammation and laboratory or epidemiologic evidence of SARS-CoV-2 infection. Some features of MIS-C resemble Kawasaki Disease, toxic shock syndrome, and secondary hemophagocytic lymphohistiocytosis/macrophage activation syndrome. +synonym: "COVID-19 -related paediatric inflammatory multisystem syndrome" EXACT OMO:0003005 [] synonym: "COVID-19 -related pediatric inflammatory multisystem syndrome" EXACT [NCIT:C172127] synonym: "COVID-19 associated multisystem inflammatory syndrome in children" EXACT [https://www.cdc.gov/mmwr/volumes/69/wr/mm6932e2.htm] synonym: "COVID-19 Kawasaki-like syndrome" EXACT [https://orcid.org/0000-0002-0736-9199] @@ -445150,6 +451251,11 @@ synonym: "MIS-C" EXACT ABBREVIATION [PMID:32630212] synonym: "multisystem inflammatory syndrome in children" EXACT [DOID:0080711] synonym: "multisystem inflammatory syndrome in children associated with coronavirus disease 2019" EXACT [PMID:32768466] synonym: "multisystem inflammatory syndrome in children associated with COVID-19" EXACT [NCIT:C172127, PMID:32768466] +synonym: "paediatric inflammatory multisystem syndrome" EXACT OMO:0003005 [] +synonym: "paediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2" EXACT OMO:0003005 [] +synonym: "paediatric inflammatory multisystem syndrome: temporally associated with SARS-CoV-2" EXACT OMO:0003005 [] +synonym: "paediatric multi-system inflammatory syndrome potentially associated with COVID-19" EXACT OMO:0003005 [] +synonym: "paediatric multisystem inflammatory syndrome" EXACT OMO:0003005 [] synonym: "pediatric inflammatory multisystem syndrome" EXACT [NCIT:C172127] synonym: "pediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2" EXACT [PMID:32511692] synonym: "pediatric inflammatory multisystem syndrome: temporally associated with SARS-CoV-2" EXACT [PMID:32529358] @@ -446896,8 +453002,11 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-520 id: MONDO:0100291 name: early T cell progenitor acute lymphoblastic leukemia def: "T acute lymphoblastic leukemia in which the blasts have unique immunophenotypic and genetic characteristics suggesting only limited early T-cell differentiation." [NCIT:C130043] +synonym: "early T acute lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "early T acute lymphoblastic leukemia" EXACT [NCIT:C130043] +synonym: "early T-cell precursor acute lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "early T-cell precursor acute lymphoblastic leukemia" EXACT [NCIT:C130043] +synonym: "early T-cell precursor lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "early T-cell precursor lymphoblastic leukemia" EXACT [NCIT:C130043] synonym: "ETP ALL" EXACT [NCIT:C130043] synonym: "ETP-ALL" EXACT [NCIT:C130043] @@ -447510,16 +453619,20 @@ def: "A grade III or grade IV glioma arising from the central nervous system. Th subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:182067"} synonym: "glial cell tumor" EXACT [DOID:3070] +synonym: "glial cell tumour" EXACT OMO:0003005 [] synonym: "glioma" BROAD [Orphanet:182067] synonym: "glioma, malignant" EXACT [DOID:3070, MONDO:patterns/malignant, NCIT:C4822] synonym: "high grade glioma" EXACT [NCIT:C4822] synonym: "high-grade glioma" EXACT [NCIT:C4822] synonym: "malignant glial neoplasm" EXACT [NCIT:C4822] synonym: "malignant glial tumor" EXACT [NCIT:C4822] +synonym: "malignant glial tumour" EXACT OMO:0003005 [] synonym: "malignant glioma" EXACT [NCIT:C4822] synonym: "malignant neuroglial neoplasm" EXACT [NCIT:C4822] synonym: "malignant neuroglial tumor" EXACT [DOID:3070, NCIT:C4822] +synonym: "malignant neuroglial tumour" EXACT OMO:0003005 [] synonym: "neuroglial tumor" BROAD [DOID:3070, NCIT:C3059] +synonym: "neuroglial tumour" BROAD OMO:0003005 [] xref: DOID:3070 {source="MONDO:equivalentTo"} xref: ICDO:9380/3 {source="NCIT:C4822"} xref: MedDRA:10018338 {source="Orphanet:182067", source="Orphanet:182067/e"} @@ -447651,6 +453764,7 @@ subset: ordo_clinical_syndrome {source="Orphanet:100093"} synonym: "carcinoid syndrome" EXACT [MONDO:0006689, MONDO:0007262] synonym: "carcinoid tumor syndrome" RELATED [GARD:0005994] synonym: "carcinoid tumors, intestinal" RELATED [OMIM:114900] +synonym: "carcinoid tumour syndrome" RELATED OMO:0003005 [] synonym: "malignant carcinoid syndrome" EXACT [Orphanet:100093] xref: DOID:8600 {source="EFO:1000852", source="MONDO:obsolete"} xref: EFO:1000852 {source="MONDO:equivalentTo"} @@ -448361,11 +454475,15 @@ synonym: "AML, KMT2A Gene Rearrangement" EXACT [NCIT:C122623] synonym: "AML, KMT2A Rearrangement" EXACT [NCIT:C122623] synonym: "AML, Lysine (K)-Specific Methyltransferase 2A Gene Rearrangement" EXACT [NCIT:C122623] synonym: "AML, Lysine Methyltransferase 2A Gene Rearrangement" EXACT [NCIT:C122623] +synonym: "AML, Mixed Lineage Leukaemia Gene Rearrangement" EXACT OMO:0003005 [] synonym: "AML, Mixed Lineage Leukemia Gene Rearrangement" EXACT [NCIT:C122623] synonym: "AML, MLL gene rearrangement" EXACT [NCIT:C122623] synonym: "AML, MLL Rearrangement" EXACT [NCIT:C122623] +synonym: "AML, Myeloid/Lymphoid Leukaemia Gene Rearrangement" EXACT OMO:0003005 [] synonym: "AML, Myeloid/Lymphoid Leukemia Gene Rearrangement" EXACT [NCIT:C122623] +synonym: "AML, Myeloid/Lymphoid or Mixed Lineage Leukaemia Gene Rearrangement" EXACT OMO:0003005 [] synonym: "AML, Myeloid/Lymphoid or Mixed Lineage Leukemia Gene Rearrangement" EXACT [NCIT:C122623] +synonym: "AML, Myeloid/Lymphoid or Mixed-Lineage Leukaemia (Trithorax Homolog, Drosophila) Gene Rearrangement" EXACT OMO:0003005 [] synonym: "AML, Myeloid/Lymphoid or Mixed-Lineage Leukemia (Trithorax Homolog, Drosophila) Gene Rearrangement" EXACT [NCIT:C122623] xref: DOID:0081094 {source="MONDO:equivalentTo"} xref: NCIT:C122623 {source="MONDO:otherHierarchy"} @@ -448545,6 +454663,7 @@ def: "Any acute myeloid leukemia that has the chromosomal anomaly WT1 gene mutat synonym: "AML, GUD Gene Mutation" EXACT [NCIT:C146726] synonym: "AML, WAGR Gene Mutation" EXACT [NCIT:C146726] synonym: "AML, Wilms Tumor 1 Gene Mutation" EXACT [NCIT:C146726] +synonym: "AML, Wilms Tumour 1 Gene Mutation" EXACT OMO:0003005 [] synonym: "AML, WIT-2 Gene Mutation" EXACT [NCIT:C146726] synonym: "AML, WT1 gene mutation" EXACT [NCIT:C146726] synonym: "AML, WT1 mutation" EXACT [NCIT:C146726] @@ -448620,6 +454739,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0100422 name: acute myeloid leukemia, RUNX1 gene mutation def: "Any acute myeloid leukemia that has the chromosomal anomaly RUNX1 gene mutation. (A change in the nucleotide sequence of the RUNX1 gene.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C38362] +synonym: "AML, Acute Myeloid Leukaemia 1 Gene Mutation" EXACT OMO:0003005 [] synonym: "AML, Acute Myeloid Leukemia 1 Gene Mutation" EXACT [NCIT:C38362] synonym: "AML, AML1 Gene Mutation" EXACT [NCIT:C38362] synonym: "AML, AML1 Mutation" EXACT [NCIT:C38362] @@ -449334,6 +455454,7 @@ synonym: "hypertension, pregnancy-induced" RELATED [OMIM:189800] synonym: "PEE1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:189800] synonym: "PREECLAMPSIA/eclampsia 1" EXACT [MONDO:Lexical, OMIM:189800] synonym: "PREG1" EXACT [OMIM:189800] +synonym: "toxaemia of pregnancy" BROAD OMO:0003005 [] synonym: "toxemia of pregnancy" BROAD [OMIM:189800] xref: OMIM:189800 {source="MONDO:equivalentTo"} is_a: MONDO:0005081 {source="OMIM:189800"} ! preeclampsia @@ -450267,8 +456388,11 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-546 id: MONDO:0600030 name: B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) def: "A B-cell acute leukemia characterized by the presence of lymphoblasts that carry a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1. It occurs in children and less often in adults." [NCIT:C80347] +synonym: "B acute lymphoblastic leukaemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)" EXACT OMO:0003005 [] synonym: "B acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)" EXACT [NCIT:C80347] +synonym: "B lymphoblastic leukaemia lymphoma with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "B lymphoblastic leukemia lymphoma with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) (morphologic abnormality)" EXACT [SCTID:450956008] +synonym: "B-acute lymphoblastic leukaemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)" EXACT OMO:0003005 [] synonym: "B-acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)" EXACT [NCIT:C80347] synonym: "B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)" EXACT [Orphanet:585956] synonym: "B-lymphoblastic leukemia/lymphoma with TCF3-PBX1" EXACT [DOID:0080649] @@ -452557,8 +458681,10 @@ def: "Neoplasm associated with the expression of a Neurotrophic Tyrosine Recepto synonym: "neurotrophic tyrosine receptor kinase fusion positive cancer" EXACT [PMID:30333516] synonym: "neurotrophic tyrosine receptor kinase fusion positive neoplasm" EXACT [PMID:30333516] synonym: "neurotrophic tyrosine receptor kinase fusion positive solid tumor" EXACT [PMID:30333516] +synonym: "neurotrophic tyrosine receptor kinase fusion positive solid tumour" EXACT OMO:0003005 [] synonym: "NTRK fusion positive neoplasm" EXACT [PMID:30333516] synonym: "NTRK fusion positive solid tumor" EXACT [PMID:30333516] +synonym: "NTRK fusion positive solid tumour" EXACT OMO:0003005 [] is_a: MONDO:0005070 {source="PMID:30333516"} ! neoplasm intersection_of: MONDO:0005070 ! neoplasm intersection_of: disease_has_feature NCIT:C183255 ! NTRK Fusion Gene Positive @@ -452571,6 +458697,7 @@ name: RET fusion positive cancer def: "Neoplasm associated with expression of a RET (REarranged during Transfection) fusion. RET fusion-positive tumors have been identified in a broad range of solid tumor types, including multiple endocrine neoplasia 2 (MEN2), papillary thyroid carcinoma (PTC), non-small cell lung cancer (NSCLC), invasive breast cancers, and pancreatic ductal adenocarcinomas in addition to colorectal adenocarcinoma, melanoma, small cell lung cancer, neuroblastoma, and small intestine neuroendocrine tumors." [https://orcid.org/0000-0001-7151-1615, PMID:31715421] synonym: "RET fusion positive neoplasm" EXACT [PMID:31715421] synonym: "RET fusion positive solid tumor" EXACT [PMID:31715421] +synonym: "RET fusion positive solid tumour" EXACT OMO:0003005 [] is_a: MONDO:0005070 {source="PMID:31715421"} ! neoplasm intersection_of: MONDO:0005070 ! neoplasm intersection_of: disease_has_feature NCIT:C131069 ! RET Fusion Positive @@ -453015,6 +459142,7 @@ name: restrictive dermopathy 1 def: "A a neonatal lethal genetic disease characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) and pulmonary hypoplasia without neurological abnormalities." [https://orcid.org/0000-0001-5208-3432, Orphanet:1662] subset: ordo_disease {source="Orphanet:1662"} synonym: "fetal hypokinesia sequence due to restrictive dermopathy" EXACT [OMIM:275210] +synonym: "foetal hypokinesia sequence due to restrictive dermopathy" EXACT OMO:0003005 [] synonym: "hyperkeratosis-contracture syndrome" EXACT [DOID:0060762, OMIM:275210, Orphanet:1662] synonym: "lethal restrictive dermopathy" EXACT [DOID:0060762, Orphanet:1662] synonym: "restrictive dermopathy" BROAD [Orphanet:1662] @@ -453125,6 +459253,7 @@ synonym: "autoinflammatory syndrome, familial, Behcet-like" BROAD [OMIM:616744] synonym: "autoinflammatory syndrome, familial, Behcet-like 1" EXACT [OMIM:616744] synonym: "Behçet-like disease due to HA20" EXACT [Orphanet:476102] synonym: "Behçet-like disease due to haploinsufficiency of A20" EXACT [Orphanet:476102] +synonym: "hereditary paediatric Behçet-like disease" EXACT OMO:0003005 [] synonym: "hereditary pediatric Behçet-like disease" EXACT [Orphanet:476102] xref: DOID:0080944 {source="MONDO:equivalentTo"} xref: OMIM:616744 {source="Orphanet:476102", source="MONDO:equivalentTo"} @@ -453299,7 +459428,9 @@ name: primary bone dysplasia with disorganized development of skeletal component comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. This is part of a large mass-obsoletion effort for ORDO terms. subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:93450"} +synonym: "primary osteodysplasia with disorganised development of skeletal components" EXACT OMO:0003005 [] synonym: "primary osteodysplasia with disorganized development of skeletal components" EXACT [Orphanet:93450] +synonym: "primary skeletal dysplasia with disorganised development of skeletal components" EXACT OMO:0003005 [] synonym: "primary skeletal dysplasia with disorganized development of skeletal components" EXACT [Orphanet:93450] xref: Orphanet:93450 {source="MONDO:equivalentTo"} is_a: MONDO:0018230 {source="PMID:31633310"} ! skeletal dysplasia