diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index b7fd292a3d..36448e8a18 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -225,7 +225,7 @@ replaced_by: MONDO:0008982 [Term] id: MONDO:0000014 name: colorblindness, partial -is_a: MONDO:0001703 ! color vision disorder +is_a: MONDO:0001703 {source="https://orcid.org/0000-0001-5208-3432"} ! color vision disorder [Term] id: MONDO:0000015 @@ -236,7 +236,7 @@ synonym: "genetic deficiency of early component of the classical complement path xref: ICD9:279.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:363009005 {source="MONDO:equivalentTo"} xref: UMLS:C1285186 {source="GARD:0009526", source="MONDO:equivalentTo"} -is_a: MONDO:0003832 ! complement deficiency +is_a: MONDO:0003832 {source="https://orcid.org/0000-0001-5208-3432"} ! complement deficiency property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9526/complement-component-deficiency" xsd:anyURI {source="GARD:0009526"} [Term] @@ -449,7 +449,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6735/hypopho id: MONDO:0000045 name: hypothyroidism, congenital, nongoitrous xref: OMIMPS:275200 {source="MONDO:equivalentTo"} -is_a: MONDO:0018612 ! congenital hypothyroidism +is_a: MONDO:0018612 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital hypothyroidism relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital relationship: has_characteristic MONDO:0021152 {source="OMIMPS:275200"} ! inherited property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -563,7 +563,7 @@ replaced_by: MONDO:0016826 id: MONDO:0000060 name: microcephalic osteodysplastic primordial dwarfism xref: UMLS:CN239360 {source="MONDO:equivalentTo"} -is_a: MONDO:0001149 ! microcephaly +is_a: MONDO:0001149 {source="https://orcid.org/0000-0001-5208-3432"} ! microcephaly [Term] id: MONDO:0000061 @@ -615,7 +615,7 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:603933"} ! inheri [Term] id: MONDO:0000066 name: mitochondrial complex deficiency -is_a: MONDO:0004069 ! inborn mitochondrial metabolism disorder +is_a: MONDO:0004069 {source="https://orcid.org/0000-0001-5208-3432"} ! inborn mitochondrial metabolism disorder [Term] id: MONDO:0000067 @@ -669,7 +669,7 @@ replaced_by: MONDO:0018307 id: MONDO:0000075 name: neuronopathy, distal hereditary motor comment: See genetic heterogeneity of OMIM 182960. -is_a: MONDO:0020128 ! motor neuron disorder +is_a: MONDO:0020128 {source="https://orcid.org/0000-0001-5208-3432"} ! motor neuron disorder [Term] id: MONDO:0000076 @@ -897,14 +897,14 @@ synonym: "anemia, hypochromic microcytic, with iron overload" EXACT [OMIMPS:2061 xref: MESH:C567144 {source="MONDO:equivalentTo"} xref: OMIMPS:206100 {source="MONDO:equivalentTo"} xref: UMLS:C2673913 {source="MONDO:equivalentTo"} -is_a: MONDO:0000387 ! hypochromic microcytic anemia -is_a: MONDO:0001357 ! hypochromic anemia +is_a: MONDO:0000387 {source="https://orcid.org/0000-0001-5208-3432"} ! hypochromic microcytic anemia +is_a: MONDO:0001357 {source="https://orcid.org/0000-0001-5208-3432"} ! hypochromic anemia relationship: has_characteristic MONDO:0021152 {source="OMIMPS:206100"} ! inherited [Term] id: MONDO:0000105 name: anemia, nonspherocytic hemolytic -is_a: MONDO:0006506 ! congenital nonspherocytic hemolytic anemia +is_a: MONDO:0006506 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital nonspherocytic hemolytic anemia [Term] id: MONDO:0000106 @@ -942,7 +942,7 @@ id: MONDO:0000108 name: bacteremia, susceptibility subset: predisposition xref: UMLS:C3280646 {source="MONDO:equivalentTo"} -is_a: MONDO:0020573 ! inherited disease susceptibility +is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: predisposes_towards MONDO:0005229 ! bacterial infectious disease with sepsis @@ -1000,7 +1000,7 @@ xref: MESH:D001139 {source="MONDO:equivalentTo"} xref: NCIT:C84570 {source="MONDO:equivalentTo"} xref: SCTID:253184003 {source="MONDO:equivalentTo"} xref: UMLS:C0003803 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C84570"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0000116 @@ -1027,7 +1027,7 @@ id: MONDO:0000119 name: congenital heart defects, multiple types comment: Genetic heterogeneity of OMIM:306955 which includes CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED lists 614980, 614954 and 615779 as forms of this disease. synonym: "CHTD" RELATED ABBREVIATION [] -is_a: MONDO:0005453 ! congenital heart disease +is_a: MONDO:0005453 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital heart disease [Term] id: MONDO:0000120 @@ -1186,7 +1186,6 @@ xref: MESH:C536159 {source="Orphanet:2340/e", source="Orphanet:2340"} xref: Orphanet:2340 {source="MONDO:equivalentTo"} xref: SCTID:238626006 {source="MONDO:equivalentTo"} xref: UMLS:C0343057 {source="Orphanet:2340/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2340"} -is_a: MONDO:0006552 ! folliculitis is_a: MONDO:0006566 {source="https://orcid.org/0000-0001-5208-3432"} ! keratosis is_a: MONDO:0018855 {source="Orphanet:2340"} ! keratosis pilaris atrophicans is_a: MONDO:0020162 {source="Orphanet:2340"} ! secondary ectropion @@ -1296,7 +1295,6 @@ comment: See genetic heterogeneity of OMIM 614742. xref: OMIMPS:614742 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: UMLS:CN262497 {source="MONDO:equivalentTo"} is_a: MONDO:0002771 {source="https://orcid.org/0000-0001-5208-3432"} ! pulmonary fibrosis -is_a: MONDO:0003225 ! bone marrow disorder is_a: MONDO:0100137 {source="OMIMPS:614742", source="https://github.com/monarch-initiative/mondo/issues/1631"} ! telomere syndrome relationship: has_characteristic MONDO:0021152 {source="OMIMPS:614742"} ! inherited @@ -1323,7 +1321,7 @@ id: MONDO:0000152 name: thiamine-responsive dysfunction syndrome synonym: "thiamine-responsive dysfunction syndrome" EXACT CLINGEN_PREFERRED [] xref: OMIMPS:249270 {source="MONDO:equivalentTo"} -is_a: MONDO:0017578 ! disorder of thiamine metabolism and transport +is_a: MONDO:0017578 {source="https://orcid.org/0000-0001-5208-3432"} ! disorder of thiamine metabolism and transport relationship: disease_responds_to CHEBI:26948 ! vitamin B1 relationship: has_characteristic MONDO:0021152 {source="OMIMPS:249270"} ! inherited @@ -1538,7 +1536,6 @@ xref: Orphanet:899 {source="MONDO:equivalentTo"} xref: SCTID:111504002 {source="MONDO:equivalentTo"} xref: UMLS:C0265221 {source="NCIT:C99109", source="Orphanet:899", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:CN239483 {source="MONDO:equivalentTo"} -is_a: MONDO:0015327 ! developmental anomaly of metabolic origin is_a: MONDO:0016156 {source="Orphanet:899"} ! qualitative or quantitative defects of FKRP is_a: MONDO:0016184 {source="Orphanet:899"} ! qualitative or quantitative defects of protein O-mannosyltransferase 1 is_a: MONDO:0016185 {source="Orphanet:899"} ! qualitative or quantitative defects of protein O-mannosyltransferase 2 @@ -1685,7 +1682,7 @@ comment: Editor note: note that in contrast to other phenotypic series, all memb synonym: "GLUT1 deficiency syndrome" EXACT CLINGEN_PREFERRED [] synonym: "GLUT1DS" EXACT ABBREVIATION [MONDO:cjm] xref: OMIMPS:606777 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0100033 {source="https://orcid.org/0000-0001-8486-0558"} ! metabolic epilepsy relationship: disease_has_basis_in_disruption_of GO:0005355 ! glucose transmembrane transporter activity relationship: has_characteristic MONDO:0021152 {source="OMIMPS:606777"} ! inherited @@ -1909,13 +1906,13 @@ xref: MESH:C563783 {source="MONDO:equivalentTo"} xref: OMIMPS:609161 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:228169 {source="MONDO:equivalentTo"} xref: UMLS:C1836694 {source="MONDO:equivalentTo"} -is_a: MONDO:0003122 ! striatonigral degeneration +is_a: MONDO:0003122 {source="https://orcid.org/0000-0001-5208-3432"} ! striatonigral degeneration relationship: has_characteristic MONDO:0021152 {source="OMIMPS:609161"} ! inherited [Term] id: MONDO:0000212 name: hypercalcemia, infantile -def: "A hypercalcemia disease that occurs between 28 days to one year of life.." [MONDO:design_pattern] +def: "A hypercalcemia disease that occurs between 28 days to one year of life." [MONDO:design_pattern] subset: ordo_disease {source="Orphanet:300547"} subset: prototype_pattern synonym: "autosomal recessive hypercalcemia, infantile" EXACT [MONDO:design_pattern] @@ -2472,7 +2469,7 @@ replaced_by: MONDO:0015805 id: MONDO:0000259 name: asymptomatic dengue xref: DOID:0050143 {source="MONDO:equivalentTo"} -is_a: MONDO:0005502 ! dengue disease +is_a: MONDO:0005502 {source="https://orcid.org/0000-0001-5208-3432"} ! dengue disease [Term] id: MONDO:0000260 @@ -4819,7 +4816,7 @@ id: MONDO:0000440 name: metabolic acidosis xref: DOID:0050758 {source="MONDO:equivalentTo"} xref: SCTID:59455009 {source="MONDO:equivalentTo"} -is_a: MONDO:0006022 ! acidosis disorder +is_a: MONDO:0006022 {source="https://orcid.org/0000-0001-5208-3432"} ! acidosis disorder relationship: excluded_subClassOf MONDO:0006040 {source="DOID:0050758"} ! lactic acidosis [Term] @@ -4977,7 +4974,7 @@ xref: DOID:0050785 {source="MONDO:equivalentTo"} xref: MESH:D020528 {source="DOID:0050785"} xref: SCTID:230374002 {source="DOID:0050785", source="MONDO:equivalentTo"} xref: UMLS:C0393666 {source="DOID:0050785", source="MONDO:equivalentTo"} -is_a: MONDO:0005284 ! chronic progressive multiple sclerosis +is_a: MONDO:0005284 {source="https://orcid.org/0000-0001-5208-3432"} ! chronic progressive multiple sclerosis [Term] id: MONDO:0000453 @@ -5104,7 +5101,7 @@ xref: DOID:0050810 {source="MONDO:equivalentTo"} xref: MESH:C531633 {source="MONDO:equivalentTo"} xref: SCTID:49607006 {source="MONDO:equivalentTo"} is_a: MONDO:0006873 {source="DOID:0050810"} ! nutritional deficiency disease -is_a: MONDO:0024298 ! vitamin deficiency disorder +is_a: MONDO:0024298 {source="https://orcid.org/0000-0001-5208-3432"} ! vitamin deficiency disorder intersection_of: MONDO:0006873 ! nutritional deficiency disease intersection_of: disease_has_basis_in_disruption_of GO:0006768 ! biotin metabolic process @@ -13772,8 +13769,7 @@ xref: ICD9:669.20 {source="DOID:10556", source="MONDO:equivalentTo", source="MON xref: SCTID:88887003 {source="MONDO:equivalentTo"} xref: UMLS:C0157456 {source="DOID:10556", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0005385 {source="DOID:10556"} ! vascular disorder -is_a: MONDO:0005468 ! hypotensive disorder -is_a: MONDO:0024575 ! pregnancy disorder +is_a: MONDO:0005468 {source="https://orcid.org/0000-0001-5208-3432"} ! hypotensive disorder relationship: disease_has_feature HP:0008071 ! Maternal hypertension [Term] @@ -25595,7 +25591,7 @@ xref: DOID:13514 {source="MONDO:equivalentTo"} xref: ICD9:362.36 {source="DOID:13514"} xref: UMLS:C0154842 {source="DOID:13514", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0002089 {source="DOID:13514"} ! retinal vascular occlusion -is_a: MONDO:0006951 {source="https://orcid.org/0000-0003-1967-3726"} ! retinal vein occlusion +is_a: MONDO:0006951 {source="https://orcid.org/0000-0001-5208-3432"} ! retinal vein occlusion intersection_of: MONDO:0020672 ! vascular occlusion disorder intersection_of: disease_has_location UBERON:0036300 ! tributary of central retinal vein @@ -27287,7 +27283,7 @@ xref: SCTID:95776004 {source="MONDO:equivalentTo"} xref: UMLS:C0155287 {source="NCIT:C35342", source="MONDO:equivalentTo", source="DOID:1393"} is_a: MONDO:0002602 ! central nervous system disorder is_a: MONDO:0021084 {source="NCIT:C35342"} ! vision disorder -is_a: MONDO:0024458 {source="https://orcid.org/0000-0003-1967-3726"} ! disorder of visual system +is_a: MONDO:0024458 {source="https://orcid.org/0000-0001-5208-3432"} ! disorder of visual system intersection_of: MONDO:0000001 ! disease intersection_of: disease_has_location UBERON:0001908 ! optic tract relationship: excluded_subClassOf MONDO:0005328 {source="DOID:1393"} ! eye disorder @@ -28385,7 +28381,7 @@ xref: NCIT:C27142 {source="DOID:14176"} xref: SCTID:123785006 {source="DOID:14176"} xref: SCTID:190981001 {source="MONDO:equivalentTo", source="DOID:14176"} xref: UMLS:C0162539 {source="DOID:14176"} -is_a: MONDO:0015697 {source="https://orcid.org/0000-0003-1967-3726"} ! immunoglobulin heavy chain deficiency +is_a: MONDO:0015697 {source="https://orcid.org/0000-0001-5208-3432"} ! immunoglobulin heavy chain deficiency is_a: MONDO:0045045 {source="NCIT:C27024"} ! selective IgG immunodeficiency relationship: excluded_subClassOf MONDO:0001342 {source="DOID:14176"} ! dysgammaglobulinemia @@ -29057,7 +29053,7 @@ xref: SCTID:192828004 {source="DOID:14332"} xref: SCTID:19972008 {source="MONDO:equivalentTo", source="DOID:14332"} xref: UMLS:C0030568 {source="MONDO:equivalentTo", source="Orphanet:97349", source="DOID:14332", source="NCIT:C34898"} is_a: MONDO:0006966 {source="DOID:14332", source="MESH:D010301", source="NCIT:C34898"} ! secondary Parkinson disease -is_a: MONDO:0021095 {source="https://orcid.org/0000-0003-1967-3726"} ! parkinsonian disorder +is_a: MONDO:0021095 {source="https://orcid.org/0000-0001-5208-3432"} ! parkinsonian disorder relationship: disease_has_major_feature MONDO:0001627 {source="Orphanet:97349"} ! dementia [Term] @@ -30109,7 +30105,7 @@ xref: OMIMPS:305400 {source="MONDO:equivalentTo"} xref: Orphanet:323 {source="MONDO:equivalentObsolete", source="GARD:0002317", source="DOID:14711"} xref: SCTID:49984004 {source="MONDO:equivalentTo", source="DOID:14711"} xref: UMLS:C0220769 {source="GARD:0002317", source="DOID:14711"} -is_a: MONDO:0002254 {source="https://orcid.org/0000-0003-1967-3726"} ! syndromic disease +is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease relationship: has_characteristic MONDO:0021152 {source="OMIMPS:305400"} ! inherited property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2317/fg-syndrome" xsd:anyURI {source="GARD:0002317"} @@ -35264,7 +35260,7 @@ xref: SCTID:190812003 {source="DOID:2346"} xref: SCTID:267440005 {source="MONDO:equivalentTo", source="DOID:2346"} xref: UMLS:C0026471 {source="MONDO:equivalentTo", source="DOID:2346"} is_a: MONDO:0002273 {source="DOID:2346"} ! plasma protein metabolism disease -is_a: MONDO:0004960 {source="https://orcid.org/0000-0003-1967-3726"} ! monoclonal gammopathy +is_a: MONDO:0004960 {source="https://orcid.org/0000-0001-5208-3432"} ! monoclonal gammopathy [Term] id: MONDO:0002275 @@ -37963,7 +37959,7 @@ xref: SCTID:29633007 {source="MONDO:equivalentTo", source="DOID:2747"} xref: UMLS:C0017919 {source="Orphanet:79201/e", source="MONDO:equivalentTo", source="NCIT:C61272", source="DOID:2747", source="Orphanet:79201"} is_a: MONDO:0019052 {source="DOID:0050728/inferred", source="DOID:2747/inferred", source="MESH:D006008/inferred", source="MONDO:Redundant", source="NCIT:C61272", source="Orphanet:79201/inferred"} ! inborn errors of metabolism is_a: MONDO:0019214 {source="DOID:0050728", source="DOID:2747/inferred", source="MESH:D006008", source="MONDO:Redundant", source="Orphanet:79201", source="PMID:33340416"} ! inborn carbohydrate metabolic disorder -is_a: MONDO:0037792 {source="https://orcid.org/0000-0003-1967-3726"} ! carbohydrate metabolism disease +is_a: MONDO:0037792 {source="https://orcid.org/0000-0001-5208-3432"} ! carbohydrate metabolism disease intersection_of: MONDO:0019052 ! inborn errors of metabolism intersection_of: disease_has_basis_in_disruption_of GO:0005977 ! glycogen metabolic process relationship: excluded_subClassOf MONDO:0000422 {source="DOID:2747"} ! obsolete inborn glycogen metabolism disorder @@ -53736,7 +53732,7 @@ synonym: "mixed epithelial stromal tumor" EXACT [DOID:5088] xref: DOID:5088 {source="MONDO:equivalentTo"} xref: NCIT:C37265 {source="MONDO:relatedTo", source="DOID:5088"} xref: UMLS:C1334602 {source="MONDO:relatedTo", source="DOID:5088"} -is_a: MONDO:0021043 {source="https://orcid.org/0000-0003-1967-3726"} ! mixed neoplasm +is_a: MONDO:0021043 {source="https://orcid.org/0000-0001-5208-3432"} ! mixed neoplasm relationship: excluded_subClassOf MONDO:0005853 {source="DOID:5088"} ! malignant mixed neoplasm [Term] @@ -54462,7 +54458,7 @@ xref: DOID:5170 {source="MONDO:equivalentTo"} xref: NCIT:C40270 {source="MONDO:equivalentTo", source="DOID:5170"} xref: UMLS:C3642329 {source="NCIT:C40270", source="MONDO:equivalentTo", source="DOID:5170"} is_a: MONDO:0002140 {source="DOID:5170", source="MONDO:Redundant"} ! vagina sarcoma -is_a: MONDO:0003314 ! endometrioid stromal and related neoplasms of the vagina +is_a: MONDO:0003314 {comment="https://orcid.org/0000-0001-5208-3432"} ! endometrioid stromal and related neoplasms of the vagina is_a: MONDO:0005089 {source="DOID:5170/inferred"} ! sarcoma intersection_of: MONDO:0006745 ! endometrioid stromal sarcoma intersection_of: disease_has_location UBERON:0000996 ! vagina @@ -76270,7 +76266,7 @@ replaced_by: MONDO:0019735 [Term] id: MONDO:0004603 name: collagenopathy -is_a: MONDO:0003900 ! connective tissue disorder +is_a: MONDO:0003900 {source="https://orcid.org/0000-0001-5208-3432"} ! connective tissue disorder intersection_of: MONDO:0000001 ! disease intersection_of: disease_has_basis_in_dysfunction_of GO:0005581 ! collagen trimer @@ -83483,7 +83479,7 @@ name: stage II endometrioid carcinoma def: "Endometrial carcinoma is a carcinoma that arises from the endometrium (the lining of the uterus or womb). It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage II the cancer has spread from the body of the uterus and is growing into the supporting connective tissue of the cervix (called the cervical stroma). The cancer has spread into connective tissue of the cervix, but has not spread outside the uterus." [EFO:0000206] xref: EFO:0000206 {source="MONDO:equivalentTo"} xref: SCTID:254878006 {source="EFO:0000206"} -is_a: MONDO:0005026 ! endometrioid adenocarcinoma +is_a: MONDO:0005026 {source="https://orcid.org/0000-0001-5208-3432"} ! endometrioid adenocarcinoma relationship: excluded_subClassOf MONDO:0021007 ! obsolete stage of disease relationship: part_of_progression_of_disease MONDO:0002447 ! endometrial carcinoma @@ -88551,7 +88547,7 @@ xref: SCTID:191077005 {source="DOID:374"} xref: SCTID:2492009 {source="EFO:0001069", source="MONDO:equivalentTo", source="DOID:374"} xref: UMLS:C3714509 {source="MONDO:equivalentTo", source="DOID:374", source="NCIT:C26836"} is_a: MONDO:0000001 {source="https://github.com/monarch-initiative/mondo/issues/3155", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! disease -is_a: MONDO:0700096 ! human disease +is_a: MONDO:0700096 {source="https://orcid.org/0000-0001-5208-3432"} ! human disease relationship: excluded_subClassOf MONDO:0005066 {source="NCIT:C26836"} ! metabolic disease relationship: excluded_subClassOf MONDO:0006504 {source="DOID:374"} ! acquired metabolic disease @@ -90317,7 +90313,7 @@ xref: SCTID:27431007 {source="EFO:0003014", source="DOID:10354"} xref: UMLS:C0016034 {source="MONDO:equivalentTo", source="DOID:10354"} xref: UMLS:C1527375 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C3039"} is_a: MONDO:0000001 {source="DOID:10354/inferred", source="EFO:0003014/inferred", source="NCIT:C3039/inferred"} ! disease -is_a: MONDO:0700096 ! human disease +is_a: MONDO:0700096 {source="https://orcid.org/0000-0001-5208-3432"} ! human disease relationship: disease_has_location UBERON:0000310 {source="EFO:0000784"} ! breast relationship: excluded_subClassOf MONDO:0000620 {source="DOID:10354"} ! breast benign neoplasm @@ -101253,7 +101249,7 @@ xref: MESH:D004859 {source="MONDO:equivalentTo", source="EFO:0007263"} xref: NCIT:C84694 {source="MONDO:equivalentTo"} xref: UMLS:C0014661 {source="MONDO:equivalentTo"} is_a: MONDO:0005583 {source="https://orcid.org/0000-0001-5493-2602"} ! non-human animal disease -is_a: MONDO:0024950 {source="https://orcid.org/0000-0003-1967-3726"} ! horse disease +is_a: MONDO:0024950 {source="https://orcid.org/0000-0001-5208-3432"} ! horse disease is_a: MONDO:0700053 {source="EFO:0007263", source="MESH:D004859/inferred"} ! viral infectious disease, non-human animal is_a: MONDO:0700170 {source="https://orcid.org/0000-0002-4142-7153"} ! equine neoplasm relationship: in_taxon NCBITaxon:9788 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648", source="https://www.merckvetmanual.com/"} ! Equidae @@ -109385,7 +109381,7 @@ xref: EFO:1000183 {source="MONDO:equivalentTo"} xref: NCIT:C4847 {source="EFO:1000183", source="MONDO:equivalentTo", source="MONDO:otherHierarchy"} xref: SCTID:308870004 {source="MONDO:equivalentTo"} xref: UMLS:C1302363 {source="MONDO:equivalentTo"} -is_a: MONDO:0003409 {source="https://orcid.org/0000-0003-1967-3726"} ! colonic disorder +is_a: MONDO:0003409 {source="https://orcid.org/0000-0001-5208-3432"} ! colonic disorder relationship: disease_has_location UBERON:0001155 ! colon [Term] @@ -119548,7 +119544,7 @@ xref: MESH:D003323 {source="EFO:1000881", source="MONDO:equivalentTo", source="D xref: SCTID:373139003 {source="DOID:3362"} xref: SCTID:50570003 {source="EFO:1000881", source="MONDO:equivalentTo", source="DOID:3362"} xref: UMLS:C0010051 {source="MONDO:equivalentTo", source="DOID:3362"} -is_a: MONDO:0005010 {source="https://orcid.org/0000-0003-1967-3726"} ! coronary artery disorder +is_a: MONDO:0005010 {source="https://orcid.org/0000-0001-5208-3432"} ! coronary artery disorder relationship: excluded_subClassOf MONDO:0006779 {source="DOID:3362"} ! heart aneurysm [Term] @@ -125785,7 +125781,7 @@ xref: NCIT:C35809 {source="DOID:6686", source="MONDO:equivalentTo"} xref: OMIM:100700 {source="DOID:6686", source="MONDO:equivalentTo"} xref: UMLS:C1332135 {source="DOID:6686", source="NCIT:C35809", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:100700"} is_a: MONDO:0002254 {source="DOID:6686", source="NCIT:C35809"} ! syndromic disease -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8176/achard-syndrome" xsd:anyURI {source="GARD:0008176"} [Term] @@ -125838,7 +125834,7 @@ xref: EFO:0007887 {source="MONDO:equivalentTo"} xref: MESH:C535300 {source="MONDO:equivalentTo"} xref: OMIM:100820 {source="MONDO:equivalentTo"} xref: UMLS:C1863416 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:100820"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007039 @@ -126163,7 +126159,7 @@ synonym: "acroleukopathy, symmetric" EXACT [OMIM:102000] xref: MESH:C566322 {source="MONDO:equivalentTo"} xref: OMIM:102000 {source="MONDO:equivalentTo"} xref: UMLS:C1863342 {source="OMIM:102000", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/358 {source="MONDO:mim2gene_medgen"} ! AIP [Term] @@ -126179,7 +126175,7 @@ xref: OMIM:102100 {source="MONDO:equivalentTo"} xref: Orphanet:964 {source="MONDO:equivalentObsolete", source="OMIM:102100"} xref: UMLS:C1321495 {source="OMIM:102100", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:CN225973 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/500/acromegaloid-changes-cutis-verticis-gyrata-and-corneal-leukoma" xsd:anyURI {source="GARD:0000500"} [Term] @@ -126261,7 +126257,7 @@ synonym: "acromial dimples" EXACT [OMIM:102350] synonym: "supraspinous fossae, congenital" RELATED [OMIM:102350] xref: OMIM:102350 {source="MONDO:equivalentTo"} xref: UMLS:C1863321 {source="OMIM:102350", source="MONDO:equivalentObsolete", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007055 @@ -127092,7 +127088,7 @@ synonym: "amastia, bilateral, with ureteral triplication and dysmorphism" EXACT xref: MESH:C566295 {source="MONDO:equivalentTo"} xref: OMIM:104350 {source="MONDO:equivalentTo"} xref: UMLS:C1863015 {source="OMIM:104350", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007091 @@ -127101,7 +127097,7 @@ synonym: "amelia and terminal transverse hemimelia" EXACT [OMIM:104400] xref: MESH:C566294 {source="MONDO:equivalentTo"} xref: OMIM:104400 {source="MONDO:equivalentTo"} xref: UMLS:C1863014 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:104400"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: disease_has_feature HP:0009827 ! Amelia [Term] @@ -127131,7 +127127,7 @@ xref: OMIM:104500 {source="MONDO:equivalentTo", source="DOID:0110052"} xref: Orphanet:100031 {source="OMIM:104500"} xref: SCTID:234961008 {source="MONDO:equivalentTo"} xref: UMLS:C0399368 {source="MONDO:equivalentTo", source="OMIM:104500", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0015047 {source="Orphanet:100031/btnt"} ! amelogenesis imperfecta type 1 is_a: MONDO:0019507 {source="DOID:0110052", source="MESH:C562879", source="MONDO:Redundant", source="OMIM:104500"} ! amelogenesis imperfecta intersection_of: MONDO:0019507 ! amelogenesis imperfecta @@ -127226,7 +127222,7 @@ xref: MESH:C537072 {source="MONDO:equivalentTo"} xref: OMIM:104600 {source="MONDO:equivalentTo"} xref: SCTID:64678009 {source="MONDO:equivalentTo"} xref: UMLS:C0271556 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:104600"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007097 @@ -127541,7 +127537,7 @@ synonym: "proctalgia fugax due to anal sphincter myopathy" RELATED [OMIM:105565] xref: MESH:C566287 {source="MONDO:equivalentTo"} xref: OMIM:105565 {source="MONDO:equivalentTo"} xref: UMLS:C1862935 {source="OMIM:105565", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007108 @@ -127852,7 +127848,7 @@ xref: MESH:D015875 {source="MONDO:equivalentTo"} xref: OMIM:106240 {source="MONDO:equivalentTo"} xref: SCTID:13045009 {source="MONDO:equivalentTo"} xref: UMLS:C0003079 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:106240"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: IAO:0000589 "anisocoria (disease)" xsd:string [Term] @@ -127929,7 +127925,7 @@ xref: OMIM:106280 {source="MONDO:equivalentTo", source="DOID:0060604"} xref: SCTID:67787004 {source="MONDO:equivalentTo"} xref: UMLS:C0152415 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:106280", source="NCIT:C124538"} is_a: MONDO:0001165 {source="DOID:0060604"} ! tongue disorder -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007126 @@ -128019,7 +128015,7 @@ xref: Orphanet:99798 {source="OMIM:106600"} xref: UMLS:C1970117 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:106600"} xref: UMLS:C1970118 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:106600"} xref: UMLS:C3489529 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:106600"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005486 {source="DC-OMIM:106600", source="MONDO:Redundant", source="OMIM:106600"} ! tooth agenesis intersection_of: MONDO:0005486 ! tooth agenesis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7391 ! MSX1 @@ -128083,7 +128079,7 @@ synonym: "anonychia-ectrodactyly" EXACT [OMIM:106900] xref: MESH:C566277 {source="MONDO:equivalentTo"} xref: OMIM:106900 {source="MONDO:equivalentTo"} xref: UMLS:C1862843 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:106900"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/708/anonychia-ectrodactyly" xsd:anyURI {source="GARD:0000708"} [Term] @@ -128097,7 +128093,7 @@ xref: MESH:C536379 {source="MONDO:equivalentTo"} xref: OMIM:106990 {source="MONDO:equivalentTo"} xref: Orphanet:2355 {source="OMIM:106990", source="MONDO:equivalentObsolete"} xref: UMLS:C1862842 {source="OMIM:106990", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/711/anonychia-onychodystrophy-with-brachydactyly-type-b-and-ectrodactyly" xsd:anyURI {source="GARD:0000711"} [Term] @@ -128175,7 +128171,7 @@ xref: OMIM:107200 {source="Orphanet:88620", source="MONDO:equivalentTo", source= xref: Orphanet:88620 {source="OMIM:107200", source="MONDO:equivalentTo"} xref: SCTID:230502003 {source="MONDO:equivalentTo"} xref: UMLS:C0393778 {source="OMIM:107200", source="Orphanet:88620", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0010528 {source="https://orcid.org/0000-0001-5493-2602"} ! anosmia is_a: MONDO:0018751 {source="MONDO:Redundant", source="Orphanet:88620"} ! hereditary otorhinolaryngologic disease is_a: MONDO:0024623 {source="Orphanet:88620"} ! otorhinolaryngologic disease @@ -128306,7 +128302,7 @@ synonym: "aortic arch interruption, facial palsy, and retinal coloboma" EXACT [O xref: MESH:C566271 {source="MONDO:equivalentTo"} xref: OMIM:107550 {source="MONDO:equivalentTo"} xref: UMLS:C1862681 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:107550"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007145 @@ -128435,7 +128431,7 @@ xref: SCTID:155159000 {source="DOID:11342"} xref: SCTID:231924000 {source="MONDO:equivalentTo", source="DOID:11342"} xref: UMLS:C0003742 {source="MONDO:equivalentTo", source="OMIM:107800", source="MONDO:ncbi_mim2gene_medline", source="DOID:11342"} is_a: MONDO:0001515 {source="DOID:11342"} ! corneal degeneration -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007151 @@ -128444,7 +128440,7 @@ synonym: "arms, malformation of" EXACT [OMIM:107900] xref: MESH:C566258 {source="MONDO:equivalentTo"} xref: OMIM:107900 {source="MONDO:equivalentTo"} xref: UMLS:C1862534 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:107900"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007152 @@ -128485,7 +128481,7 @@ name: arteries, anomalies of synonym: "arteries, anomalies of" EXACT [OMIM:108000] xref: OMIM:108000 {source="MONDO:equivalentTo"} xref: UMLS:C1876179 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:108000"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007154 @@ -128528,7 +128524,7 @@ synonym: "arteritis, familial granulomatous, with juvenile polyarthritis" EXACT xref: MESH:C566253 {source="MONDO:equivalentTo"} xref: OMIM:108050 {source="MONDO:equivalentTo"} xref: UMLS:C1862510 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:108050"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007156 @@ -128537,7 +128533,7 @@ synonym: "arthritis, sacroiliac" EXACT [OMIM:108100] xref: MESH:C563037 {source="MONDO:equivalentTo"} xref: OMIM:108100 {source="MONDO:equivalentTo"} xref: UMLS:C0748473 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:108100"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007157 @@ -128750,7 +128746,7 @@ synonym: "ataxia with fasciculations" EXACT [OMIM:108700] xref: MESH:C566246 {source="MONDO:equivalentTo"} xref: OMIM:108700 {source="MONDO:equivalentTo"} xref: UMLS:C1862440 {source="OMIM:108700", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0100309 {source="MONDO:cjm"} ! hereditary ataxia [Term] @@ -128936,7 +128932,7 @@ synonym: "PR interval, variation type in" EXACT [MONDORULE:4, OMIM:108980] xref: OMIM:108980 {source="MONDO:equivalentTo"} xref: UMLS:C0429087 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3152251 {source="MONDO:equivalentTo", source="OMIM:108980"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007176 @@ -128990,7 +128986,7 @@ xref: MESH:C566235 {source="MONDO:equivalentTo"} xref: OMIM:109050 {source="MONDO:equivalentTo"} xref: Orphanet:1219 {source="MONDO:equivalentObsolete", source="OMIM:109050"} xref: UMLS:C1862380 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:109050"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007179 @@ -129029,7 +129025,7 @@ xref: MESH:C566234 {source="MONDO:equivalentTo"} xref: OMIM:109120 {source="MONDO:equivalentTo"} xref: Orphanet:1831 {source="MONDO:equivalentObsolete", source="OMIM:109120"} xref: UMLS:C1862373 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:109120"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007181 @@ -129042,7 +129038,7 @@ xref: MESH:C537791 {source="MONDO:equivalentTo"} xref: OMIM:109130 {source="MONDO:equivalentTo"} xref: UMLS:C1862372 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:109130"} is_a: MONDO:0002933 {source="DOID:0080039"} ! osteosclerosis -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: disease_has_feature HP:0011001 ! Increased bone mineral density property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8431/axial-osteomalacia" xsd:anyURI {source="GARD:0008431"} @@ -129153,7 +129149,7 @@ xref: SCTID:54856001 {source="DOID:8534"} xref: SCTID:698065002 {source="DOID:8534"} xref: UMLS:C0017168 {source="DOID:8534", source="NCIT:C26781", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:109350"} is_a: MONDO:0003749 {source="MESH:D005764/inferred", source="MONDO:Redundant", source="NCIT:C26781/inferred"} ! esophageal disorder -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: disease_has_feature HP:0012735 {source="MONDO:Wikidata"} ! Cough relationship: disease_has_location UBERON:0000945 {source="EFO:0000784"} ! stomach relationship: disease_has_location UBERON:0001043 {source="EFO:0000784"} ! esophagus @@ -129377,7 +129373,7 @@ xref: SCTID:21853005 {source="DOID:11353"} xref: SCTID:252004007 {source="DOID:11353"} xref: SCTID:268335001 {source="DOID:11353"} xref: UMLS:C0156273 {source="OMIM:109820", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="DOID:11353"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0006026 {source="DOID:11353"} ! urinary bladder disorder property_value: IAO:0000589 "bladder diverticulum (disease)" xsd:string @@ -129415,7 +129411,7 @@ synonym: "blepharochalasis, superior" EXACT [OMIM:110000] xref: MESH:C566223 {source="MONDO:equivalentTo"} xref: OMIM:110000 {source="MONDO:equivalentTo"} xref: UMLS:C1862275 {source="MONDO:equivalentTo", source="OMIM:110000", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007200 @@ -129604,7 +129600,7 @@ name: bone pain, periodic synonym: "bone pain, periodic" EXACT [OMIM:112270] xref: OMIM:112270 {source="MONDO:equivalentTo"} xref: UMLS:C1862176 {source="OMIM:112270", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007207 @@ -130059,7 +130055,7 @@ synonym: "metatarsus IV, short" RELATED [OMIM:113475] synonym: "toe, fourth, short" RELATED [OMIM:113475] xref: OMIM:113475 {source="MONDO:equivalentTo"} xref: UMLS:C1862083 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:113475"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007230 @@ -130142,7 +130138,7 @@ xref: Orphanet:141022 {source="MONDO:equivalentTo", source="OMIM:113600"} xref: SCTID:73381000119100 {source="MONDO:equivalentTo"} xref: UMLS:C0006131 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:113600"} xref: UMLS:C0079037 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:113600"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0015476 {source="Orphanet:141022"} ! cysts and fistulae of the face and oral cavity property_value: confidence "8.333333333333334" xsd:double @@ -130153,7 +130149,7 @@ synonym: "branchial myoclonus with spastic paraparesis and cerebellar ataxia" EX xref: MESH:C566188 {source="MONDO:equivalentTo"} xref: OMIM:113610 {source="MONDO:equivalentTo"} xref: UMLS:C1862071 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:113610"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007235 @@ -130224,7 +130220,7 @@ xref: Orphanet:180176 {source="OMIM:113670", source="MONDO:equivalentTo"} xref: UMLS:C0405471 {source="OMIM:113670", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2676048 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:CN226754 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0015852 {source="Orphanet:180176"} ! excess breast volume or number property_value: confidence "8.333333333333334" xsd:double @@ -130340,7 +130336,7 @@ xref: MESH:C562759 {source="MONDO:equivalentTo"} xref: OMIM:113950 {source="MONDO:equivalentTo"} xref: SCTID:233919006 {source="MONDO:equivalentTo"} xref: UMLS:C0340504 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:113950"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007242 @@ -130349,7 +130345,7 @@ synonym: "butyrylesterase 1" EXACT [OMIM:113960] synonym: "Butyrylesterase type 1" EXACT [MONDORULE:1, OMIM:113960] xref: OMIM:113960 {source="MONDO:equivalentTo"} xref: UMLS:C1861981 {source="OMIM:113960", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007243 @@ -130463,7 +130459,7 @@ synonym: "calcific aortic disease with immunologic abnormalities, familial" EXAC xref: MESH:C566182 {source="MONDO:equivalentTo"} xref: OMIM:114065 {source="MONDO:equivalentTo"} xref: UMLS:C1861974 {source="OMIM:114065", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007247 @@ -130764,7 +130760,7 @@ synonym: "canine teeth, absence of upper permanent" EXACT [OMIM:114600] xref: OMIM:114600 {source="MONDO:equivalentTo"} xref: Orphanet:2227 {source="OMIM:114600"} xref: UMLS:C1861899 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:114600"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007259 @@ -130790,7 +130786,7 @@ synonym: "Car factor deficiency" EXACT [OMIM:114650] xref: MESH:C566176 {source="MONDO:equivalentTo"} xref: OMIM:114650 {source="MONDO:equivalentTo"} xref: UMLS:C1861898 {source="OMIM:114650", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007261 @@ -130799,7 +130795,7 @@ synonym: "Carabelli anomaly of maxillary molar teeth" EXACT [OMIM:114700] xref: MESH:C566175 {source="MONDO:equivalentTo"} xref: OMIM:114700 {source="MONDO:equivalentTo"} xref: UMLS:C1861897 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:114700"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007262 @@ -131075,7 +131071,7 @@ synonym: "carpal bossing" RELATED [OMIM:115400] synonym: "carpal displacement" EXACT [OMIM:115400] xref: OMIM:115400 {source="MONDO:equivalentTo"} xref: UMLS:C1861847 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:115400"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007275 @@ -131793,7 +131789,7 @@ synonym: "hypertrichosis, posterior cervical, with underlying kyphoscoliosis" RE xref: MESH:C566142 {source="MONDO:equivalentTo"} xref: OMIM:117850 {source="MONDO:equivalentTo"} xref: UMLS:C1861695 {source="OMIM:117850", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007303 @@ -131812,7 +131808,7 @@ xref: NCIT:C158329 {source="MONDO:equivalentTo"} xref: OMIM:117900 {source="MONDO:equivalentTo"} xref: SCTID:72535009 {source="MONDO:equivalentTo"} xref: UMLS:C0158779 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:117900"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005381 {source="MONDO:Redundant"} ! bone disorder disjoint_from: UBERON:0018144 {source="MONDO:cjm"} ! cervical rib relationship: disease_has_location UBERON:0002228 ! rib @@ -131824,7 +131820,7 @@ name: cervical vertebral Bridge synonym: "cervical vertebral Bridge" EXACT [OMIM:118000] xref: OMIM:118000 {source="MONDO:equivalentTo"} xref: UMLS:C1861694 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:118000"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007305 @@ -131835,7 +131831,7 @@ xref: HP:0008469 {source="MONDO:otherHierarchy"} xref: MESH:C566140 {source="MONDO:equivalentTo"} xref: OMIM:118005 {source="MONDO:equivalentTo"} xref: UMLS:C1861693 {source="OMIM:118005", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: IAO:0000589 "cervical vertebral dysplasia (disease)" xsd:string [Term] @@ -132068,7 +132064,7 @@ xref: MESH:C535552 {source="MONDO:equivalentTo"} xref: OMIM:118350 {source="MONDO:equivalentTo"} xref: UMLS:C1861667 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2930928 {source="MONDO:equivalentTo", source="OMIM:118350"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007315 @@ -132281,7 +132277,7 @@ synonym: "Chondronectin" EXACT [OMIM:118670] xref: OMIM:118670 {source="MONDO:equivalentTo"} xref: UMLS:C0055595 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:118670"} xref: UMLS:C3887693 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007324 @@ -132298,7 +132294,7 @@ xref: MESH:C566127 {source="MONDO:equivalentTo"} xref: OMIM:118750 {source="MONDO:equivalentTo"} xref: UMLS:C1861569 {source="OMIM:118750", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0001595 ! choreatic disease -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007326 @@ -132328,7 +132324,7 @@ synonym: "choroidal osteoma, bilateral" EXACT [OMIM:118865] xref: MESH:C566124 {source="MONDO:equivalentTo"} xref: OMIM:118865 {source="MONDO:equivalentTo"} xref: UMLS:C1861558 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:118865"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007329 @@ -132513,7 +132509,7 @@ xref: OMIM:119540 {source="GARD:0001896", source="MONDO:equivalentTo", source="D xref: Orphanet:2014 {source="DOID:0110213", source="OMIM:119540"} xref: UMLS:C1837218 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:119540"} xref: UMLS:CN234898 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0016064 {source="DOID:0110213", source="MONDO:Entailed", source="MONDO:Redundant"} ! cleft palate intersection_of: MONDO:0016064 ! cleft palate intersection_of: has_characteristic MONDO:0021128 ! has an isolated presentation @@ -132560,7 +132556,7 @@ xref: OMIM:119570 {source="DOID:0110214", source="MONDO:equivalentTo", source="O xref: Orphanet:99772 {source="DOID:0110214", source="MONDO:equivalentTo", source="OMIM:119570"} xref: SCTID:253997002 {source="MONDO:equivalentTo"} xref: UMLS:C0432098 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:119570", source="Orphanet:99772"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0016064 {source="DC-OMIM:119570", source="DOID:0110214", source="MESH:C562950", source="Orphanet:99772"} ! cleft palate property_value: confidence "0.22222222222222254" xsd:double @@ -132754,7 +132750,7 @@ xref: Orphanet:1457 {source="MONDO:equivalentTo", source="OMIM:120000"} xref: SCTID:7305005 {source="MONDO:equivalentTo"} xref: UMLS:C0003492 {source="NCIT:C84567", source="MONDO:equivalentTo", source="Orphanet:1457", source="MONDO:ncbi_mim2gene_medline", source="OMIM:120000", source="Orphanet:1457/e"} xref: UMLS:C2930803 {source="Orphanet:1457", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0020286 {source="Orphanet:1457"} ! aortic malformation property_value: confidence "1.3571428571428568" xsd:double @@ -132944,7 +132940,7 @@ xref: UMLS:C0155299 {source="DOID:11975", source="MONDO:ncbi_mim2gene_medline", xref: UMLS:C0393782 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:120430"} is_a: MONDO:0001476 {source="DC-OMIM:120430", source="MESH:C535970", source="Orphanet:98947"} ! coloboma is_a: MONDO:0001834 {source="DOID:11975"} ! visual pathway disorder -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8620 {source="MONDO:mim2gene_medgen"} ! PAX6 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4364" xsd:anyURI property_value: IAO:0000589 "coloboma of optic nerve (disease)" xsd:string @@ -133015,7 +133011,7 @@ synonym: "colonic varices without portal hypertension" EXACT [OMIM:120440] xref: MESH:C565172 {source="MONDO:equivalentTo"} xref: OMIM:120440 {source="MONDO:equivalentTo"} xref: UMLS:C1852721 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:120440"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007358 @@ -133026,7 +133022,7 @@ xref: MESH:C562838 {source="MONDO:equivalentTo"} xref: OMIM:120450 {source="MONDO:equivalentTo"} xref: SCTID:254219004 {source="MONDO:equivalentTo"} xref: UMLS:C0345424 {source="MONDO:equivalentTo", source="OMIM:120450", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007359 @@ -133035,7 +133031,7 @@ synonym: "commissural lip pits" EXACT [OMIM:120500] xref: OMIM:120500 {source="MONDO:equivalentTo"} xref: SCTID:109550008 {source="MONDO:equivalentTo"} xref: UMLS:C0399605 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:120500"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007360 @@ -133275,7 +133271,7 @@ synonym: "coracoclavicular joint, anomalous" EXACT [OMIM:121350] xref: MESH:C565161 {source="MONDO:equivalentTo"} xref: OMIM:121350 {source="MONDO:equivalentTo"} xref: UMLS:C1852561 {source="OMIM:121350", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007371 @@ -133728,7 +133724,7 @@ xref: UMLS:C0750384 {source="MONDO:equivalentTo", source="OMIM:122700"} xref: UMLS:C2608079 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:122700"} xref: UMLS:C2675747 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:122700"} xref: UMLS:CN078029 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007391 @@ -133742,7 +133738,7 @@ xref: HP:0002812 {source="MONDO:otherHierarchy"} xref: MESH:D060905 {source="MONDO:equivalentTo"} xref: OMIM:122750 {source="MONDO:equivalentTo"} xref: UMLS:C0239138 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:122750"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: IAO:0000589 "coxa vara (disease)" xsd:string [Term] @@ -133771,7 +133767,7 @@ xref: MESH:C565147 {source="MONDO:equivalentTo"} xref: OMIM:122850 {source="MONDO:equivalentTo"} xref: Orphanet:1339 {source="MONDO:equivalentObsolete"} xref: UMLS:C1852512 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:122850"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007394 @@ -133857,7 +133853,7 @@ xref: MESH:C565144 {source="MONDO:equivalentTo"} xref: OMIM:123050 {source="MONDO:equivalentTo", source="Orphanet:157832", source="Orphanet:157832/e"} xref: Orphanet:157832 {source="OMIM:123050", source="MONDO:equivalentTo"} xref: UMLS:C1852501 {source="OMIM:123050", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:157832"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0015503 {source="Orphanet:157832"} ! nose and cavum anomaly property_value: confidence "8.375" xsd:double @@ -134070,7 +134066,7 @@ synonym: "cryofibrinogenemia, familial primary" EXACT [OMIM:123540] xref: MESH:C565142 {source="MONDO:equivalentTo"} xref: OMIM:123540 {source="MONDO:equivalentTo"} xref: UMLS:C1852457 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:123540"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0022904 {source="https://orcid.org/0000-0001-5208-3432"} ! cryofibrinogenemia [Term] @@ -134109,7 +134105,7 @@ synonym: "cryptotia, familial" EXACT [OMIM:123557] xref: MESH:C565140 {source="MONDO:equivalentTo"} xref: OMIM:123557 {source="MONDO:equivalentTo"} xref: UMLS:C1852455 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:123557"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007409 @@ -134374,7 +134370,7 @@ xref: OMIM:124300 {source="MONDO:equivalentTo", source="MONDO:preferredExternal" xref: OMIM:124400 {source="MONDO:equivalentObsolete"} xref: UMLS:C1852294 {source="OMIM:124300", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:124400"} xref: UMLS:C2751189 {source="MONDO:equivalentTo", source="OMIM:124300"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007419 @@ -134461,7 +134457,7 @@ synonym: "deafness, mid-tone neural" EXACT [OMIM:124700] xref: MESH:C565122 {source="MONDO:equivalentTo"} xref: OMIM:124700 {source="MONDO:equivalentTo"} xref: UMLS:C1852283 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:124700"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007424 @@ -134500,7 +134496,7 @@ synonym: "deafness, sensorineural, with peripheral neuropathy and arterial disea xref: MESH:C565120 {source="MONDO:equivalentTo"} xref: OMIM:124950 {source="MONDO:equivalentTo"} xref: UMLS:C1852280 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:124950"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007426 @@ -134509,7 +134505,7 @@ synonym: "deafness, unilateral" EXACT [OMIM:125000] xref: MESH:C567079 {source="MONDO:equivalentTo"} xref: OMIM:125000 {source="MONDO:equivalentTo"} xref: UMLS:C2607947 {source="OMIM:125000", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007427 @@ -134565,7 +134561,7 @@ synonym: "dens evaginatus" EXACT [OMIM:125280] xref: OMIM:125280 {source="MONDO:equivalentTo"} xref: SCTID:63691004 {source="MONDO:equivalentTo"} xref: UMLS:C0266034 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:125280"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007431 @@ -134574,7 +134570,7 @@ synonym: "dens in dente and palatal INVAGINATIONS" RELATED [OMIM:125300] xref: MESH:C538211 {source="MONDO:equivalentTo"} xref: OMIM:125300 {source="MONDO:equivalentTo"} xref: UMLS:C1852250 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:125300"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007432 @@ -134608,7 +134604,7 @@ synonym: "dementia/parkinsonism with non-Alzheimer amyloid plaques" EXACT [OMIM: xref: MESH:C565115 {source="MONDO:equivalentTo"} xref: OMIM:125320 {source="MONDO:equivalentTo"} xref: UMLS:C1852223 {source="OMIM:125320", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007434 @@ -134775,7 +134771,7 @@ xref: DOID:0080220 {source="MONDO:equivalentObsolete"} xref: MESH:C565111 {source="MONDO:equivalentTo"} xref: OMIM:125480 {source="DOID:0080220", source="MONDO:equivalentTo"} xref: UMLS:C1852197 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:125480"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0004985 {source="DC-OMIM:125480", source="DOID:0080220/inferred", source="MONDO:cjm"} ! bipolar disorder relationship: excluded_subClassOf MONDO:0001866 {source="DOID:0080220"} ! bipolar I disorder @@ -134863,7 +134859,7 @@ synonym: "dermal Ridges, patternless" EXACT [OMIM:125540] xref: MESH:C565109 {source="MONDO:equivalentTo"} xref: OMIM:125540 {source="MONDO:equivalentTo"} xref: UMLS:C1852160 {source="OMIM:125540", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007445 @@ -134905,7 +134901,7 @@ xref: SCTID:25499005 {source="DOID:4400"} xref: UMLS:C0011645 {source="DOID:4400", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:125600", source="NCIT:C2984"} xref: Wikipedia:Dermatosis_papulosa_nigra {source="EFO:1000686"} is_a: MONDO:0002406 {source="DOID:4400", source="NCIT:C2984"} ! dermatitis -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007447 @@ -135173,7 +135169,7 @@ synonym: "diastema, dental medial" EXACT [OMIM:125900] xref: MESH:C565098 {source="MONDO:equivalentTo"} xref: OMIM:125900 {source="MONDO:equivalentTo"} xref: UMLS:C1852086 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:125900"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007458 @@ -135198,7 +135194,7 @@ xref: MESH:C566872 {source="MONDO:equivalentTo"} xref: OMIM:126070 {source="MONDO:equivalentTo"} xref: SCTID:23006000 {source="MONDO:equivalentTo"} xref: UMLS:C1876214 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:126070"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007460 @@ -135208,7 +135204,7 @@ synonym: "discrimination, Two-point, reduction type 1N" EXACT [MONDORULE:4, OMIM synonym: "sensory discrimination" RELATED [OMIM:126180] xref: OMIM:126180 {source="MONDO:equivalentTo"} xref: UMLS:C1852074 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:126180"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007461 @@ -135276,7 +135272,7 @@ xref: MESH:C565092 {source="MONDO:equivalentTo"} xref: OMIM:126320 {source="MONDO:equivalentTo"} xref: Orphanet:1683 {source="OMIM:126320", source="MONDO:equivalentObsolete"} xref: UMLS:C1852062 {source="OMIM:126320", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -135290,7 +135286,7 @@ synonym: "DNA, satellite, type 3" EXACT [MONDORULE:1, OMIM:126370] synonym: "HS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:126370] xref: OMIM:126370 {source="MONDO:equivalentTo"} xref: UMLS:C1852044 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:126370"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007467 @@ -135300,7 +135296,7 @@ synonym: "DNA, low-repetitive sequences of" EXACT [OMIM:126390] synonym: "repetitive sequence DNA" RELATED [OMIM:126390] xref: OMIM:126390 {source="MONDO:equivalentTo"} xref: UMLS:C1852041 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:126390"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007468 @@ -135322,7 +135318,7 @@ synonym: "fifth toe, double nails" RELATED [GARD:0009672] xref: MESH:C565090 {source="MONDO:equivalentTo"} xref: OMIM:126500 {source="MONDO:equivalentTo", source="GARD:0009672"} xref: UMLS:C1852023 {source="OMIM:126500", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="GARD:0009672"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: disease_has_location UBERON:0003635 ! pedal digit 5 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9672/double-nails-on-the-fifth-toe" xsd:anyURI {source="GARD:0009672"} @@ -135449,7 +135445,7 @@ synonym: "hypergastrinemic, hyperpepsinogenemic duodenal ulcer" RELATED [GARD:00 xref: MESH:C535721 {source="MONDO:equivalentTo"} xref: OMIM:126840 {source="MONDO:equivalentTo"} xref: UMLS:C1852009 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:126840"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9743/duodenal-ulcer-due-to-antral-g-cell-hyperfunction" xsd:anyURI {source="GARD:0009743"} [Term] @@ -135460,7 +135456,7 @@ synonym: "duodenal Ulcer, hyperpepsinogenemic type 1" EXACT [MONDORULE:1, OMIM:1 xref: MESH:C565086 {source="MONDO:equivalentTo"} xref: OMIM:126850 {source="MONDO:equivalentTo"} xref: UMLS:C1852008 {source="OMIM:126850", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007476 @@ -135826,7 +135822,7 @@ synonym: "Kirner deformity" RELATED [OMIM:128000] xref: MESH:C538000 {source="MONDO:equivalentTo"} xref: OMIM:128000 {source="MONDO:equivalentTo"} xref: UMLS:C1851955 {source="OMIM:128000", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10059/dystelephalangy" xsd:anyURI {source="GARD:0010059"} [Term] @@ -135994,7 +135990,7 @@ name: ear antitragus, tag at base of synonym: "ear antitragus, tag at base of" EXACT [OMIM:128290] xref: OMIM:128290 {source="MONDO:equivalentTo"} xref: UMLS:C1851905 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:128290"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007498 @@ -136003,7 +135999,7 @@ synonym: "ear exostoses" EXACT [OMIM:128300] synonym: "exostoses of external auditory canal" RELATED [OMIM:128300] xref: OMIM:128300 {source="MONDO:equivalentTo"} xref: UMLS:C0155411 {source="OMIM:128300", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007499 @@ -136011,7 +136007,7 @@ name: ear folding synonym: "ear folding" EXACT [OMIM:128500] xref: OMIM:128500 {source="MONDO:equivalentTo"} xref: UMLS:C1851901 {source="OMIM:128500", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007500 @@ -136024,7 +136020,7 @@ xref: ICD9:744.3 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: OMIM:128600 {source="MONDO:equivalentTo"} xref: SCTID:275259005 {source="MONDO:equivalentTo"} xref: UMLS:C0266589 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:128600"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007501 @@ -136035,7 +136031,7 @@ synonym: "preauricular fistulae, congenital" EXACT [OMIM:128700] xref: MESH:C563015 {source="MONDO:equivalentTo"} xref: OMIM:128700 {source="MONDO:equivalentTo"} xref: UMLS:C0546969 {source="OMIM:128700", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -136048,7 +136044,7 @@ synonym: "posterior helical Ear pits" RELATED [OMIM:128710] xref: OMIM:128710 {source="MONDO:equivalentTo"} xref: UMLS:C1851900 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:128710"} xref: UMLS:C3276675 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:128710"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007503 @@ -136083,7 +136079,7 @@ synonym: "earlobe sinuses" RELATED [OMIM:129000] synonym: "earring holes, natural" EXACT [OMIM:129000] xref: OMIM:129000 {source="MONDO:equivalentTo"} xref: UMLS:C1851895 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:129000"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007506 @@ -136289,7 +136285,7 @@ xref: MESH:C536185 {source="MONDO:equivalentTo"} xref: OMIM:129750 {source="MONDO:equivalentTo"} xref: SCTID:193523008 {source="MONDO:equivalentTo"} xref: UMLS:C1271219 {source="OMIM:129750", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: IAO:0000589 "ectopia pupillae (disease)" xsd:string [Term] @@ -136314,7 +136310,7 @@ xref: OMIM:129830 {source="MONDO:equivalentTo"} xref: Orphanet:1889 {source="MONDO:equivalentObsolete", source="OMIM:129830"} xref: UMLS:C1851848 {source="OMIM:129830", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:CN229012 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007518 @@ -136323,7 +136319,7 @@ synonym: "edema, familial idiopathic, prepubertal" EXACT [OMIM:129840] xref: MESH:C565063 {source="MONDO:equivalentTo"} xref: OMIM:129840 {source="MONDO:equivalentTo"} xref: UMLS:C1851847 {source="OMIM:129840", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_characteristic MONDO:0700005 ! idiopathic [Term] @@ -136627,7 +136623,7 @@ name: electroencephalographic peculiarity: 14 and 6 per sec. positive spike phen synonym: "electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon" EXACT [OMIM:130200] xref: OMIM:130200 {source="MONDO:equivalentTo"} xref: UMLS:C1851757 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:130200"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007531 @@ -136635,7 +136631,7 @@ name: electroencephalographic peculiarity: fronto-precentral beta wave groups synonym: "electroencephalographic peculiarity: fronto-precentral beta wave groups" EXACT [OMIM:130300] xref: OMIM:130300 {source="MONDO:equivalentTo"} xref: UMLS:C1851756 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:130300"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007532 @@ -136713,7 +136709,7 @@ synonym: "emphysema, hereditary pulmonary" EXACT [OMIM:130700] xref: MESH:C565057 {source="MONDO:equivalentTo"} xref: OMIM:130700 {source="MONDO:equivalentTo"} xref: UMLS:C1851718 {source="OMIM:130700", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0004849 {source="MESH:C565057"} ! pulmonary emphysema property_value: confidence "10.0" xsd:double @@ -136808,7 +136804,7 @@ xref: OMIM:130950 {source="MONDO:equivalentTo"} xref: Orphanet:2672 {source="MONDO:equivalentTo", source="OMIM:130950"} xref: UMLS:C1851708 {source="GARD:0002117", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:130950"} is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005560 {source="DC-OMIM:130950", source="MESH:C536407/inferred"} ! brain disorder is_a: MONDO:0100198 {source="https://orcid.org/0000-0001-5208-3432"} ! Mendelian encephalopathy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5671" xsd:string @@ -136946,7 +136942,7 @@ xref: MESH:C562722 {source="MONDO:equivalentTo"} xref: OMIM:131400 {source="MONDO:equivalentTo"} xref: SCTID:79336007 {source="MONDO:equivalentTo"} xref: UMLS:C0272192 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:131400"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10521/familial-eosinophilia" xsd:anyURI {source="GARD:0010521"} [Term] @@ -136956,7 +136952,7 @@ synonym: "eosinophil aplasia" RELATED [OMIM:131430] synonym: "Eosinophilopenia" EXACT [OMIM:131430] xref: OMIM:131430 {source="MONDO:equivalentTo"} xref: UMLS:C1851586 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:131430"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007546 @@ -136999,7 +136995,7 @@ xref: NCIT:C3134 {source="MONDO:equivalentTo"} xref: OMIM:131600 {source="MONDO:equivalentTo"} xref: SCTID:419893006 {source="MONDO:equivalentTo"} xref: UMLS:C0014511 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:131600"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007548 @@ -137537,7 +137533,7 @@ xref: ICD10CM:L49-L54 {source="https://github.com/monarch-initiative/mondo/issue xref: MESH:C535510 {source="MONDO:equivalentTo"} xref: OMIM:132990 {source="MONDO:equivalentTo"} xref: UMLS:C1851503 {source="MONDO:equivalentTo", source="OMIM:132990", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9259/familial-erythema-nodosum" xsd:anyURI {source="GARD:0009259"} [Term] @@ -137811,7 +137807,7 @@ xref: MESH:C562765 {source="MONDO:equivalentTo"} xref: OMIM:133240 {source="MONDO:equivalentTo"} xref: SCTID:235623002 {source="MONDO:equivalentTo"} xref: UMLS:C0341137 {source="OMIM:133240", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007578 @@ -137857,7 +137853,7 @@ synonym: "exchondrosis of pinna, posterior" EXACT [OMIM:133500] xref: MESH:C565036 {source="MONDO:equivalentTo"} xref: OMIM:133500 {source="MONDO:equivalentTo"} xref: UMLS:C1851463 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:133500"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007582 @@ -138053,7 +138049,7 @@ name: facial spasm synonym: "facial spasm" EXACT [OMIM:134300] xref: OMIM:134300 {source="MONDO:equivalentTo"} xref: UMLS:C0278151 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:134300"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007594 @@ -138248,7 +138244,7 @@ synonym: "fibrinolytic defect" EXACT [OMIM:134900] xref: MESH:C565017 {source="MONDO:equivalentTo"} xref: OMIM:134900 {source="MONDO:equivalentTo"} xref: UMLS:C1851184 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:134900"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007606 @@ -138526,7 +138522,7 @@ synonym: "fibula, recurrent dislocation of head of" EXACT [OMIM:135800] xref: MESH:C565011 {source="MONDO:equivalentTo"} xref: OMIM:135800 {source="MONDO:equivalentTo"} xref: UMLS:C1851099 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:135800"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007617 @@ -138684,7 +138680,7 @@ name: flushing of ears and somnolence synonym: "flushing of ears and somnolence" EXACT [OMIM:136200] xref: OMIM:136200 {source="MONDO:equivalentTo"} xref: UMLS:C1851055 {source="OMIM:136200", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007624 @@ -138714,7 +138710,7 @@ synonym: "focal epithelial hyperplasia of the oral mucosa" EXACT [OMIM:136400] xref: MESH:C565008 {source="MONDO:equivalentTo"} xref: OMIM:136400 {source="MONDO:equivalentTo"} xref: UMLS:C1851009 {source="MONDO:equivalentTo", source="OMIM:136400", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007626 @@ -138797,7 +138793,7 @@ synonym: "fragile site 10Q23" EXACT [OMIM:136540] synonym: "fragile site type 10Q23" EXACT [MONDORULE:7, OMIM:136540] xref: OMIM:136540 {source="MONDO:equivalentTo"} xref: UMLS:C1850987 {source="OMIM:136540", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007630 @@ -138978,7 +138974,7 @@ synonym: "Alpha-L-fucosidase regulator" RELATED [OMIM:136830] synonym: "fucosidase regulator" EXACT [OMIM:136830] xref: OMIM:136830 {source="MONDO:equivalentTo"} xref: UMLS:C1850954 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:136830"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007639 @@ -139065,7 +139061,7 @@ synonym: "Immunoglobulin A, defect in Assembly of" RELATED [OMIM:137050] xref: MESH:C564991 {source="MONDO:equivalentTo"} xref: OMIM:137050 {source="MONDO:equivalentTo"} xref: UMLS:C1850934 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:137050"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007644 @@ -139085,7 +139081,7 @@ xref: UMLS:C0162538 {source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C2931161 {source="OMIM:137100", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0001341 {source="DC-OMIM:137100", source="MESH:C536290"} ! selective IgA deficiency disease is_a: MONDO:0003739 {source="NCIT:C123434"} ! selective immunoglobulin deficiency disease -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: confidence "1.880658436213991" xsd:double property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -139135,7 +139131,7 @@ synonym: "gastric volvulus, intrathoracic" EXACT [OMIM:137210] xref: MESH:C564989 {source="MONDO:equivalentTo"} xref: OMIM:137210 {source="MONDO:equivalentTo"} xref: UMLS:C1850902 {source="OMIM:137210", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007648 @@ -139279,7 +139275,7 @@ xref: SCTID:413219009 {source="DOID:8757"} xref: SCTID:60002000 {source="DOID:8757", source="MONDO:equivalentTo", source="EFO:1000946"} xref: UMLS:C0017155 {source="Orphanet:2494/e", source="DOID:8757", source="MONDO:equivalentTo", source="NCIT:C67277", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2494"} xref: UMLS:C2936660 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:137280", source="Orphanet:2494"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0004966 {source="DOID:8757", source="EFO:1000946", source="MESH:D005758", source="NCIT:C67277"} ! gastritis is_a: MONDO:0015111 {source="Orphanet:2494"} ! gastroesophageal disease property_value: confidence "3.2857142857142856" xsd:double @@ -139314,7 +139310,7 @@ synonym: "St. Helena familial genu valgum" RELATED [GARD:0008429] xref: MESH:C537685 {source="MONDO:equivalentTo"} xref: OMIM:137370 {source="MONDO:equivalentTo"} xref: UMLS:C1842052 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:137370"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8429/genu-valgum-st-helena-familial" xsd:anyURI {source="GARD:0008429"} [Term] @@ -139390,7 +139386,7 @@ name: giant neutrophil leukocytes synonym: "giant neutrophil leukocytes" EXACT [OMIM:137500] xref: OMIM:137500 {source="MONDO:equivalentTo"} xref: UMLS:C1842039 {source="MONDO:equivalentTo", source="OMIM:137500", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007658 @@ -139615,7 +139611,7 @@ synonym: "globulin anomaly involving beta (2A)-globulin" EXACT [OMIM:137900] xref: MESH:C564229 {source="MONDO:equivalentTo"} xref: OMIM:137900 {source="MONDO:equivalentTo"} xref: UMLS:C1842009 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:137900"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007669 @@ -139764,7 +139760,7 @@ name: glutamic acid decarboxylase, brain, membrane form synonym: "glutamic acid decarboxylase, brain, membrane form" EXACT [OMIM:138277] xref: OMIM:138277 {source="MONDO:equivalentTo"} xref: UMLS:C1841911 {source="OMIM:138277", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007676 @@ -139773,7 +139769,7 @@ synonym: "glutathione transferase activity toward trans-stilbene oxide" EXACT [O synonym: "trans-stilbene oxide glutathione transferase activity" RELATED [OMIM:138340] xref: OMIM:138340 {source="MONDO:equivalentTo"} xref: UMLS:C1841901 {source="OMIM:138340", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007677 @@ -139892,7 +139888,7 @@ synonym: "Growth retardation, aged facies, normal development, decreased subcuta xref: MESH:C564211 {source="MONDO:equivalentTo"} xref: OMIM:138920 {source="MONDO:equivalentTo"} xref: UMLS:C1841836 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:138920"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007683 @@ -139931,7 +139927,7 @@ xref: MESH:C562483 {source="MONDO:equivalentTo"} xref: OMIM:139000 {source="MONDO:equivalentTo"} xref: SCTID:22818000 {source="MONDO:equivalentTo"} xref: UMLS:C0263471 {source="OMIM:139000", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007686 @@ -139972,7 +139968,7 @@ synonym: "White hair, premature" RELATED [OMIM:139100] xref: MESH:C564209 {source="MONDO:equivalentTo"} xref: OMIM:139100 {source="MONDO:equivalentTo"} xref: UMLS:C1841809 {source="OMIM:139100", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007688 @@ -140017,7 +140013,7 @@ synonym: "guanylate kinase type 3" EXACT [MONDORULE:1, OMIM:139290] synonym: "GUK3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:139290] xref: OMIM:139290 {source="MONDO:equivalentTo"} xref: UMLS:C1841763 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:139290"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007690 @@ -140124,7 +140120,7 @@ synonym: "HNT" RELATED ABBREVIATION [GARD:0008465] xref: MESH:C535619 {source="MONDO:equivalentTo"} xref: OMIM:139630 {source="MONDO:equivalentTo"} xref: UMLS:C1841695 {source="OMIM:139630", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8465/hairy-nose-tip" xsd:anyURI {source="GARD:0008465"} [Term] @@ -140138,7 +140134,7 @@ synonym: "thickened hair-bearing skin on the palms of both hands" RELATED [GARD: xref: MESH:C535620 {source="MONDO:equivalentTo"} xref: OMIM:139650 {source="MONDO:equivalentTo"} xref: UMLS:C1841694 {source="OMIM:139650", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8461/hairy-palms-and-soles" xsd:anyURI {source="GARD:0008461"} [Term] @@ -140165,7 +140161,7 @@ name: hand clasping pattern synonym: "hand clasping pattern" EXACT [OMIM:139800] xref: OMIM:139800 {source="MONDO:equivalentTo"} xref: UMLS:C1841692 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:139800"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007698 @@ -140443,7 +140439,7 @@ xref: OMIM:141200 {source="MONDO:equivalentTo"} xref: Orphanet:97562 {source="MONDO:equivalentObsolete", source="OMIM:141200"} xref: UMLS:C0241908 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:141200"} xref: UMLS:C0403440 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:141200"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2204 {source="MONDO:mim2gene_medgen"} ! COL4A3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -140551,7 +140547,7 @@ synonym: "hemolytic poikilocytic anemia due to reduced ankyrin binding sites" EX xref: MESH:C564197 {source="MONDO:equivalentTo"} xref: OMIM:141700 {source="MONDO:equivalentTo"} xref: UMLS:C1841622 {source="OMIM:141700", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007716 @@ -140609,7 +140605,7 @@ name: hemoglobin--variants for which the chain carrying the mutation 1S unknown synonym: "HEMOGLOBIN--variants FOR which the chain carrying the mutation IS unknown or uncertain" RELATED [OMIM:142309] xref: OMIM:142309 {source="MONDO:equivalentTo"} xref: UMLS:C1840647 {source="OMIM:142309", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007718 @@ -140656,7 +140652,7 @@ synonym: "hernia, double inguinal" EXACT [OMIM:142350] xref: MESH:C563164 {source="MONDO:equivalentTo"} xref: OMIM:142350 {source="MONDO:equivalentTo"} xref: UMLS:C0860251 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:142350"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007721 @@ -140697,7 +140693,7 @@ xref: HP:0001100 {source="MONDO:otherHierarchy"} xref: MESH:C538115 {source="MONDO:equivalentTo"} xref: OMIM:142500 {source="MONDO:equivalentTo"} xref: UMLS:C0423318 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:142500"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: IAO:0000589 "heterochromia iridis (disease)" xsd:string [Term] @@ -140856,7 +140852,7 @@ xref: OMIM:142700 {source="MONDO:equivalentTo"} xref: UMLS:C0019555 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:142700"} xref: UMLS:C1306065 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:142700"} is_a: MONDO:0000158 {source="DC-OMIM:142700", source="OMIM:142700"} ! developmental dysplasia of the hip -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007730 @@ -140991,7 +140987,7 @@ synonym: "HPA1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:143020] synonym: "restriction fragment length polymorphism, sickle cell Anemia-related" RELATED [OMIM:143020] xref: OMIM:143020 {source="MONDO:equivalentTo"} xref: UMLS:C1840474 {source="OMIM:143020", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007737 @@ -141243,7 +141239,7 @@ synonym: "orthostatic hypotensive disorder, Streeten type" EXACT [OMIM:143850] xref: MESH:C564174 {source="MONDO:equivalentTo"} xref: OMIM:143850 {source="MONDO:equivalentTo"} xref: UMLS:C1840438 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:143850"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -141353,7 +141349,7 @@ xref: OMIM:144050 {source="MONDO:equivalentTo"} xref: SCTID:79674009 {source="MONDO:equivalentTo"} xref: UMLS:C0272273 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3203346 {source="OMIM:144050", source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007753 @@ -141377,7 +141373,7 @@ xref: SCTID:56046002 {source="DOID:11599"} xref: UMLS:C0038994 {source="DOID:11599", source="OMIM:144100", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C0162473 {source="OMIM:144100", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0001292 {source="DOID:11599", source="MESH:D013547"} ! autonomic nervous system disorder -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007754 @@ -141388,7 +141384,7 @@ synonym: "HYPRPP" EXACT ABBREVIATION [MONDO:Lexical, OMIM:144110] xref: MESH:C563185 {source="MONDO:equivalentTo"} xref: OMIM:144110 {source="MONDO:equivalentTo"} xref: UMLS:C1274743 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:144110"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007755 @@ -141400,7 +141396,7 @@ xref: MESH:C564173 {source="MONDO:equivalentTo"} xref: OMIM:144120 {source="MONDO:equivalentTo"} xref: UMLS:C1415995 {source="OMIM:144120", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1840429 {source="OMIM:144120", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -141506,7 +141502,7 @@ synonym: "hyperlipoproteinemia, type II, and deafness" EXACT [OMIM:144300] xref: MESH:C564170 {source="MONDO:equivalentTo"} xref: OMIM:144300 {source="MONDO:equivalentTo"} xref: UMLS:C1840425 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:144300"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007761 @@ -141786,7 +141782,7 @@ xref: MESH:C562400 {source="MONDO:equivalentTo", source="DOID:10122"} xref: OMIM:145100 {source="MONDO:equivalentTo", source="DOID:10122"} xref: SCTID:41115008 {source="MONDO:equivalentTo", source="DOID:10122"} xref: UMLS:C0155211 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:145100", source="DOID:10122"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007770 @@ -141795,7 +141791,7 @@ synonym: "hyperpigmentation of Fuldauer and Kuijpers" EXACT [OMIM:145200] xref: MESH:C564164 {source="MONDO:equivalentTo"} xref: OMIM:145200 {source="MONDO:equivalentTo"} xref: UMLS:C1840393 {source="MONDO:equivalentTo", source="OMIM:145200", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007771 @@ -141859,7 +141855,7 @@ xref: HP:0001347 {source="MONDO:otherHierarchy"} xref: MESH:D012021 {source="MONDO:equivalentTo"} xref: OMIM:145290 {source="MONDO:equivalentTo"} xref: UMLS:C0151889 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:145290"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: IAO:0000589 "hyperreflexia (disease)" xsd:string [Term] @@ -141871,7 +141867,7 @@ synonym: "hypersecretion of adrenal androgens, familial" EXACT [OMIM:145295] xref: MESH:C536845 {source="MONDO:equivalentTo"} xref: OMIM:145295 {source="MONDO:equivalentTo"} xref: UMLS:C1840387 {source="OMIM:145295", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9593/familial-hypersecretion-of-adrenal-androgens" xsd:anyURI {source="GARD:0009593"} [Term] @@ -142000,7 +141996,7 @@ synonym: "hyperthermia, cutaneous, with headaches and nausea" EXACT [OMIM:145590 xref: MESH:C564156 {source="MONDO:equivalentTo"} xref: OMIM:145590 {source="MONDO:equivalentTo"} xref: UMLS:C1840373 {source="OMIM:145590", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007783 @@ -142078,7 +142074,7 @@ xref: DOID:0080219 {source="MONDO:equivalentTo"} xref: MESH:C567719 {source="MONDO:equivalentTo"} xref: OMIM:145680 {source="MONDO:equivalentTo", source="DOID:0080219"} xref: UMLS:C2750824 {source="OMIM:145680", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005333 {source="DOID:0080219", source="MESH:C567719"} ! hyperthyroxinemia relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12405 {source="MONDO:mim2gene_medgen"} ! TTR property_value: confidence "5.0" xsd:double @@ -142135,7 +142131,7 @@ synonym: "hypertrophia musculorum vera" EXACT [OMIM:145800] xref: MESH:C564152 {source="MONDO:equivalentTo"} xref: OMIM:145800 {source="MONDO:equivalentTo"} xref: UMLS:C1840361 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:145800"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007790 @@ -142400,7 +142396,7 @@ synonym: "hypophosphatemic bone disease" EXACT [MONDO:Lexical, OMIM:146350] xref: MESH:C564145 {source="MONDO:equivalentTo"} xref: OMIM:146350 {source="MONDO:equivalentTo"} xref: UMLS:C1840321 {source="OMIM:146350", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007800 @@ -142576,7 +142572,7 @@ name: hypoxanthine guanine phosphoribosyltransferase suppressor synonym: "hypoxanthine guanine phosphoribosyltransferase suppressor" EXACT [OMIM:146580] xref: OMIM:146580 {source="MONDO:equivalentTo"} xref: UMLS:C1840297 {source="OMIM:146580", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007808 @@ -142783,7 +142779,7 @@ xref: UMLS:C0020523 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:147050 xref: UMLS:C0236175 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:147050"} xref: UMLS:C1840253 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:147050"} xref: UMLS:C1840254 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:147050"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0004980 ! atopic eczema property_value: confidence "3.0" xsd:double property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -142940,7 +142936,7 @@ synonym: "incisors, lower central, absence of" EXACT [OMIM:147330] xref: OMIM:147330 {source="MONDO:equivalentTo"} xref: Orphanet:2227 {source="OMIM:147330"} xref: UMLS:C1840225 {source="OMIM:147330", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007825 @@ -142948,7 +142944,7 @@ name: incisors, rotation of upper central synonym: "incisors, rotation of upper central" EXACT [OMIM:147350] xref: OMIM:147350 {source="MONDO:equivalentTo"} xref: UMLS:C1840224 {source="OMIM:147350", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007826 @@ -142957,7 +142953,7 @@ synonym: "incisors, shovel-shaped" EXACT [OMIM:147400] synonym: "Sinodonty" RELATED [OMIM:147400] xref: OMIM:147400 {source="MONDO:equivalentTo"} xref: UMLS:C1409763 {source="OMIM:147400", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007827 @@ -143036,7 +143032,7 @@ name: insensitivity to pain with hyperplastic Myelinopathy synonym: "insensitivity to pain with hyperplastic Myelinopathy" EXACT [OMIM:147530] xref: OMIM:147530 {source="MONDO:equivalentTo"} xref: UMLS:C1840172 {source="OMIM:147530", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007831 @@ -143044,7 +143040,7 @@ name: insect Stings, hypersensitivity to synonym: "insect Stings, hypersensitivity to" EXACT [OMIM:147540] xref: OMIM:147540 {source="MONDO:equivalentTo"} xref: UMLS:C1840171 {source="OMIM:147540", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007832 @@ -143052,7 +143048,7 @@ name: interferon antiviral depressor synonym: "interferon antiviral depressor" EXACT [OMIM:147560] xref: OMIM:147560 {source="MONDO:equivalentTo"} xref: UMLS:C1840150 {source="OMIM:147560", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007833 @@ -143060,7 +143056,7 @@ name: iris pigment layer, cleavage of synonym: "iris pigment layer, cleavage of" EXACT [OMIM:147610] xref: OMIM:147610 {source="MONDO:equivalentTo"} xref: UMLS:C1840140 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:147610"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007834 @@ -143078,7 +143074,7 @@ xref: SCTID:274944000 {source="MONDO:equivalentTo"} xref: UMLS:C0027773 {source="NCIT:C4375", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1578917 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:147630"} is_a: MONDO:0001933 {source="NCIT:C4375"} ! endocrine pancreas disorder -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007835 @@ -143099,7 +143095,7 @@ xref: SCTID:197055000 {source="DOID:8446"} xref: SCTID:35327006 {source="DOID:8446"} xref: SCTID:49723003 {source="DOID:8446", source="MONDO:equivalentTo"} xref: UMLS:C0021933 {source="DOID:8446", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:147710"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0004565 {source="DOID:8446", source="MESH:D007443"} ! intestinal obstruction [Term] @@ -143218,7 +143214,7 @@ synonym: "internal carotid artery, spontaneous dissection of" EXACT [OMIM:147820 xref: MESH:C564125 {source="MONDO:equivalentTo"} xref: OMIM:147820 {source="MONDO:equivalentTo"} xref: UMLS:C1840073 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:147820"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007841 @@ -143373,7 +143369,7 @@ synonym: "keloid formation" EXACT [OMIM:148100] xref: OMIM:148100 {source="MONDO:equivalentTo"} xref: UMLS:C0022548 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3149494 {source="OMIM:148100", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007848 @@ -143413,7 +143409,7 @@ synonym: "keratoendothelitis fugax hereditaria" EXACT [OMIM:148200, OMIM:genemap xref: MESH:C563650 {source="MONDO:equivalentTo"} xref: OMIM:148200 {source="MONDO:equivalentTo"} xref: UMLS:C1835697 {source="OMIM:148200", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -143530,7 +143526,7 @@ synonym: "keratosis, familial actinic" EXACT [OMIM:148390] xref: MESH:C567190 {source="MONDO:equivalentTo"} xref: OMIM:148390 {source="MONDO:equivalentTo"} xref: UMLS:C2675099 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:148390"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007856 @@ -143790,7 +143786,7 @@ xref: ICD9:728.79 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:149100 {source="MONDO:equivalentTo"} xref: SCTID:16687001 {source="MONDO:equivalentTo"} xref: UMLS:C0264000 {source="OMIM:149100", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007866 @@ -143885,7 +143881,7 @@ name: labia minora, incomplete adhesion of synonym: "labia minora, incomplete adhesion of" EXACT [OMIM:149600] xref: OMIM:149600 {source="MONDO:equivalentTo"} xref: UMLS:C1835613 {source="OMIM:149600", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007871 @@ -143949,7 +143945,7 @@ synonym: "lactic acidosis, chronic adult form" EXACT [OMIM:150170] xref: MESH:C563640 {source="MONDO:equivalentTo"} xref: OMIM:150170 {source="MONDO:equivalentTo"} xref: UMLS:C1835591 {source="OMIM:150170", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007874 @@ -144059,7 +144055,7 @@ synonym: "vocal cord dysfunction, adductor type" RELATED [OMIM:150270] xref: MESH:C562861 {source="MONDO:equivalentTo"} xref: OMIM:150270 {source="MONDO:equivalentTo"} xref: UMLS:C0396060 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:150270"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007878 @@ -144176,7 +144172,7 @@ synonym: "lattice degeneration of retina leading to retinal detachment" EXACT [O xref: MESH:C563633 {source="MONDO:equivalentTo"} xref: OMIM:150500 {source="MONDO:equivalentTo"} xref: UMLS:C1835491 {source="OMIM:150500", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007883 @@ -144187,7 +144183,7 @@ xref: MESH:C562721 {source="MONDO:equivalentTo"} xref: OMIM:150550 {source="MONDO:equivalentTo"} xref: SCTID:71436005 {source="MONDO:equivalentTo"} xref: UMLS:C0272174 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:150550"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007884 @@ -144196,7 +144192,7 @@ synonym: "leg ulcers, familial, of juvenile onset" EXACT [OMIM:150590] xref: MESH:C563632 {source="MONDO:equivalentTo"} xref: OMIM:150590 {source="MONDO:equivalentTo"} xref: UMLS:C1835489 {source="MONDO:equivalentTo", source="OMIM:150590", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007885 @@ -144320,7 +144316,7 @@ xref: UMLS:C2242776 {source="MONDO:equivalentTo"} is_a: MONDO:0000632 {source="DOID:13223", source="MONDO:Redundant", source="NCIT:C3434/inferred"} ! uterine benign neoplasm is_a: MONDO:0001572 {source="MONDO:Redundant", source="NCIT:C3434"} ! leiomyoma is_a: MONDO:0002654 {source="DOID:13223/inferred", source="MONDO:Redundant", source="NCIT:C3434/inferred"} ! uterine disorder -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005167 {source="DOID:13223"} ! fibroma is_a: MONDO:0021353 {source="MONDO:Redundant", source="NCIT:C3434/inferred", source="ONCOTREE:ULM/inferred"} ! tumor of uterus is_a: MONDO:0021525 {source="MONDO:Redundant", source="NCIT:C3434"} ! benign neoplasm of corpus uteri @@ -144407,7 +144403,7 @@ synonym: "lentiginosis, Touraine type" RELATED [OMIM:151000] xref: MESH:C563630 {source="MONDO:equivalentTo"} xref: OMIM:151000 {source="MONDO:equivalentTo"} xref: UMLS:C1835484 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:151000"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007891 @@ -144498,12 +144494,8 @@ xref: UMLS:C2931424 {source="Orphanet:500", source="Orphanet:500/e", source="MON xref: UMLS:CN074218 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000426 {source="DOID:14291", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84820"} ! syndromic disease -is_a: MONDO:0005045 ! hypertrophic cardiomyopathy -is_a: MONDO:0005267 ! heart disorder is_a: MONDO:0015161 {source="Orphanet:500"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability -is_a: MONDO:0019755 ! developmental defect during embryogenesis is_a: MONDO:0020297 {source="Orphanet:500"} ! Noonan syndrome and Noonan-related syndrome -is_a: MONDO:0021147 ! disorder of development or morphogenesis relationship: disease_has_feature MONDO:0019289 {source="Orphanet:500"} ! hyperpigmentation of the skin relationship: disease_has_feature MONDO:0020178 {source="Orphanet:500"} ! palpebral lentiginosis relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:151100", source="Orphanet:500"} ! Autosomal dominant inheritance @@ -144638,7 +144630,7 @@ synonym: "leukocyte nuclear appendages, hereditary prevalence of" EXACT [OMIM:15 xref: MESH:C563626 {source="MONDO:equivalentTo"} xref: OMIM:151500 {source="MONDO:equivalentTo"} xref: UMLS:C1835405 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:151500"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007899 @@ -144658,7 +144650,7 @@ xref: Orphanet:33409 {source="MONDO:equivalentObsolete", source="OMIM:151590"} xref: SCTID:25674000 {source="MONDO:equivalentTo"} xref: UMLS:C0023652 {source="NCIT:C26817", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:151590"} is_a: MONDO:0002406 {source="NCIT:C26817"} ! dermatitis -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007900 @@ -144706,7 +144698,7 @@ synonym: "oculomotor-levator synkinesis" RELATED [OMIM:151610] xref: MESH:C563625 {source="MONDO:equivalentTo"} xref: OMIM:151610 {source="MONDO:equivalentTo"} xref: UMLS:C1835403 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:151610"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007902 @@ -144755,7 +144747,7 @@ synonym: "lip, hamartomatous" EXACT [OMIM:151640] xref: MESH:C563621 {source="MONDO:equivalentTo"} xref: OMIM:151640 {source="MONDO:equivalentTo"} xref: UMLS:C1835395 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:151640"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007906 @@ -144871,7 +144863,7 @@ name: lipoprotein types--Lt system synonym: "lipoprotein types--Lt system" EXACT [OMIM:152300] xref: OMIM:152300 {source="MONDO:equivalentTo"} xref: UMLS:C1835359 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:152300"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007911 @@ -144880,7 +144872,7 @@ synonym: "Beta-lipoprotein, Double" RELATED [OMIM:152400] synonym: "lipoprotein, variant of beta" EXACT [OMIM:152400] xref: OMIM:152400 {source="MONDO:equivalentTo"} xref: UMLS:C1835357 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:152400"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007912 @@ -144888,7 +144880,7 @@ name: lithium transport synonym: "lithium transport" EXACT [OMIM:152420] xref: OMIM:152420 {source="MONDO:equivalentTo"} xref: UMLS:C1835356 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:152420"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007913 @@ -144896,7 +144888,7 @@ name: low density lipoprotein, variation in molecular weight of synonym: "LOW density lipoprotein, variation in molecular weight OF" RELATED [OMIM:152450] xref: OMIM:152450 {source="MONDO:equivalentTo"} xref: UMLS:C1835321 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:152450"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007914 @@ -144905,7 +144897,7 @@ synonym: "lumbar stenosis, familial" EXACT [OMIM:152550] xref: MESH:C563613 {source="MONDO:equivalentTo"} xref: OMIM:152550 {source="MONDO:equivalentTo"} xref: UMLS:C1835320 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:152550"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007915 @@ -145169,7 +145161,7 @@ synonym: "macrocephaly, benign familial" EXACT [OMIM:153470] xref: MESH:C537717 {source="MONDO:equivalentTo"} xref: OMIM:153470 {source="MONDO:equivalentTo"} xref: UMLS:C0220690 {source="OMIM:153470", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/147/macrocephaly-benign-familial" xsd:anyURI {source="GARD:0000147"} [Term] @@ -145378,7 +145370,7 @@ xref: DOID:0110015 {source="MONDO:equivalentTo"} xref: MESH:C562479 {source="MONDO:equivalentTo"} xref: OMIM:153800 {source="MONDO:equivalentTo", source="DOID:0110015"} xref: UMLS:C3495438 {source="OMIM:153800", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005150 {source="DC-OMIM:153800", source="DOID:0110015", source="OMIM:153800"} ! age-related macular degeneration relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/34 {source="MONDO:mim2gene_medgen"} ! ABCA4 property_value: confidence "1.4444444444444446" xsd:double @@ -145566,7 +145558,7 @@ name: malocclusion due to protuberant upper front teeth synonym: "malocclusion due to protuberant upper front teeth" EXACT [OMIM:154300] xref: OMIM:154300 {source="MONDO:equivalentTo"} xref: UMLS:C1835159 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:154300"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007942 @@ -145576,7 +145568,7 @@ xref: MESH:C060120 {source="MONDO:equivalentTo"} xref: OMIM:154370 {source="MONDO:equivalentTo"} xref: UMLS:C0286172 {source="OMIM:154370", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3887696 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007943 @@ -145820,7 +145812,7 @@ xref: MESH:C563600 {source="MONDO:equivalentTo"} xref: OMIM:154850 {source="MONDO:equivalentTo"} xref: SCTID:699649006 {source="MONDO:equivalentTo"} xref: UMLS:C1835093 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:154850"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007952 @@ -145830,7 +145822,7 @@ synonym: "maxillofacial dysostosis" EXACT [OMIM:155000] xref: MESH:C563599 {source="MONDO:equivalentTo"} xref: OMIM:155000 {source="MONDO:equivalentTo"} xref: UMLS:C1835088 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:155000"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6991/maxillofacial-dysostosis" xsd:anyURI {source="GARD:0006991"} [Term] @@ -145919,7 +145911,7 @@ name: mediosternal depigmentation line synonym: "mediosternal depigmentation line" EXACT [OMIM:155200] xref: OMIM:155200 {source="MONDO:equivalentTo"} xref: UMLS:C1835085 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:155200"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007958 @@ -146162,7 +146154,7 @@ 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"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007969 @@ -146270,7 +146262,7 @@ xref: SCTID:194346003 {source="DOID:9849"} xref: SCTID:194347007 {source="DOID:9849"} xref: SCTID:194352002 {source="DOID:9849"} xref: UMLS:C0025281 {source="OMIM:156000", source="DOID:9849", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0006744 {source="DOID:9849", source="MESH:D008575"} ! endolymphatic hydrops [Term] @@ -146280,7 +146272,7 @@ synonym: "mental and growth retardation with amblyopia" EXACT [OMIM:156190] xref: MESH:C563591 {source="MONDO:equivalentTo"} xref: OMIM:156190 {source="MONDO:equivalentTo"} xref: UMLS:C1835028 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:156190"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: disease_has_feature MONDO:0001020 ! amblyopia [Term] @@ -146319,7 +146311,7 @@ synonym: "meralgia paraesthetica, familial" EXACT [OMIM:156220] xref: MESH:C563590 {source="MONDO:equivalentTo"} xref: OMIM:156220 {source="MONDO:equivalentTo"} xref: UMLS:C1835026 {source="OMIM:156220", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0023757 ! meralgia paresthetica [Term] @@ -146397,7 +146389,7 @@ name: metachromasia of fibroblasts synonym: "metachromasia of fibroblasts" EXACT [OMIM:156300] xref: OMIM:156300 {source="MONDO:equivalentTo"} xref: UMLS:C1835008 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:156300"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007981 @@ -146500,7 +146492,7 @@ synonym: "metatarsus varus, type I" RELATED [OMIM:156520] xref: MESH:C563585 {source="MONDO:equivalentTo"} xref: OMIM:156520 {source="MONDO:equivalentTo"} xref: UMLS:C1834968 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:156520"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007986 @@ -146723,7 +146715,7 @@ synonym: "microphthalmia, isolated, with corectopia" EXACT [MONDO:Lexical, OMIM: xref: MESH:C563581 {source="MONDO:equivalentTo"} xref: OMIM:156900 {source="MONDO:equivalentTo"} xref: UMLS:C1834918 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:156900"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0007997 @@ -146733,7 +146725,7 @@ synonym: "microspherophakia with hernia" EXACT [OMIM:157150] xref: MESH:C537468 {source="MONDO:equivalentTo"} xref: OMIM:157150 {source="MONDO:equivalentTo"} xref: UMLS:C1834881 {source="OMIM:157150", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9462/microspherophakia-with-hernia" xsd:anyURI {source="GARD:0009462"} [Term] @@ -146805,7 +146797,7 @@ xref: MESH:C562823 {source="MONDO:equivalentTo"} xref: OMIM:157400 {source="MONDO:equivalentTo"} xref: SCTID:238749001 {source="MONDO:equivalentTo"} xref: UMLS:C0343079 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:157400"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008002 @@ -147035,7 +147027,7 @@ synonym: "antigen defined by monoclonal antibody Aj9" EXACT [OMIM:158030] synonym: "Msk1" RELATED [OMIM:158030] xref: OMIM:158030 {source="MONDO:equivalentTo"} xref: UMLS:C1834757 {source="OMIM:158030", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008011 @@ -147044,7 +147036,7 @@ synonym: "antigen defined by monoclonal antibody T87" EXACT [OMIM:158040] synonym: "Msk2" RELATED [OMIM:158040] xref: OMIM:158040 {source="MONDO:equivalentTo"} xref: UMLS:C1834756 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:158040"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008012 @@ -147053,7 +147045,7 @@ synonym: "Monophalangy of great toe" EXACT [OMIM:158100] xref: MESH:C563570 {source="MONDO:equivalentTo"} xref: OMIM:158100 {source="MONDO:equivalentTo"} xref: UMLS:C1834753 {source="OMIM:158100", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008013 @@ -147104,7 +147096,7 @@ synonym: "nondisjunction" EXACT [OMIM:158250] xref: OMIM:158250 {source="MONDO:equivalentTo"} xref: UMLS:C1834741 {source="OMIM:158250", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C3495586 {source="OMIM:158250", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008015 @@ -147126,7 +147118,7 @@ xref: SCTID:269278001 {source="DOID:2951"} xref: SCTID:37031009 {source="DOID:2951"} xref: UMLS:C0026603 {source="MONDO:equivalentTo", source="DOID:2951", source="MONDO:ncbi_mim2gene_medline", source="OMIM:158280"} is_a: MONDO:0002467 {source="DOID:2951"} ! inner ear disorder -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008016 @@ -147275,7 +147267,7 @@ synonym: "muscle cramps, familial" EXACT [OMIM:158400] xref: MESH:C563563 {source="MONDO:equivalentTo"} xref: OMIM:158400 {source="MONDO:equivalentTo"} xref: UMLS:C1834708 {source="MONDO:equivalentTo", source="OMIM:158400", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008023 @@ -147384,7 +147376,7 @@ synonym: "muscular atrophy, malignant neurogenic" EXACT [OMIM:158650] xref: MESH:C563559 {source="MONDO:equivalentTo"} xref: OMIM:158650 {source="MONDO:equivalentTo"} xref: UMLS:C1834689 {source="OMIM:158650", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008028 @@ -147522,7 +147514,7 @@ synonym: "muscular hypoplasia, congenital universal, of Krabbe" EXACT [OMIM:1591 xref: MESH:C563553 {source="MONDO:equivalentTo"} xref: OMIM:159100 {source="MONDO:equivalentTo"} xref: UMLS:C1834651 {source="OMIM:159100", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -147544,7 +147536,7 @@ name: myelinated optic nerve fibers synonym: "myelinated optic nerve fibers" EXACT [OMIM:159500] xref: OMIM:159500 {source="MONDO:equivalentTo"} xref: UMLS:C1834600 {source="OMIM:159500", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008038 @@ -147918,7 +147910,7 @@ xref: MESH:C563541 {source="MONDO:equivalentTo"} xref: OMIM:160700 {source="MONDO:equivalentTo"} xref: UMLS:C1834531 {source="OMIM:160700", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0001384 {source="DC-OMIM:160700", source="MESH:C563541", source="OMIM:160700"} ! myopia -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008054 @@ -148218,7 +148210,7 @@ synonym: "nasal alar collapse, bilateral" EXACT [OMIM:161470] xref: MESH:C563533 {source="MONDO:equivalentTo"} xref: OMIM:161470 {source="MONDO:equivalentTo"} xref: UMLS:C1834371 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:161470"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008064 @@ -148228,7 +148220,7 @@ xref: MESH:C562753 {source="MONDO:equivalentTo"} xref: OMIM:161480 {source="MONDO:equivalentTo"} xref: UMLS:C0339851 {source="OMIM:161480", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C4082198 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008065 @@ -148236,7 +148228,7 @@ name: nasal groove, familial transverse synonym: "nasal groove, familial transverse" EXACT [OMIM:161500] xref: OMIM:161500 {source="MONDO:equivalentTo"} xref: UMLS:C1834370 {source="OMIM:161500", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008066 @@ -148244,7 +148236,7 @@ name: nasal hyperpigmentation, familial transverse synonym: "nasal hyperpigmentation, familial transverse" EXACT [OMIM:161530] xref: OMIM:161530 {source="MONDO:equivalentTo"} xref: UMLS:C1834369 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:161530"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008067 @@ -148489,7 +148481,6 @@ is_a: MONDO:0002546 {source="DOID:3204", source="NCIT:C6557"} ! schwannoma is_a: MONDO:0019289 {source="Orphanet:93921"} ! hyperpigmentation of the skin is_a: MONDO:0019755 ! developmental defect during embryogenesis is_a: MONDO:0021061 {source="Wikipedia:Schwannomatosis"} ! neurofibromatosis -is_a: MONDO:0021147 ! disorder of development or morphogenesis relationship: has_characteristic HP:0000006 {source="Orphanet:93921"} ! Autosomal dominant inheritance relationship: has_characteristic MONDO:0021136 ! rare relationship: has_characteristic MONDO:0021152 {source="OMIMPS:162091"} ! inherited @@ -148689,7 +148680,7 @@ synonym: "neuropathy, congenital, with arthrogryposis multiplex" EXACT [OMIM:162 xref: MESH:C535714 {source="MONDO:equivalentTo"} xref: OMIM:162370 {source="MONDO:equivalentTo"} xref: UMLS:C1834206 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:162370"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10086/neuropathy-congenital-with-arthrogryposis-multiplex" xsd:anyURI {source="GARD:0010086"} [Term] @@ -148770,7 +148761,7 @@ synonym: "neuropathy, with paraprotein in serum, cerebrospinal fluid and urine" xref: MESH:C563516 {source="MONDO:equivalentTo"} xref: OMIM:162600 {source="MONDO:equivalentTo"} xref: UMLS:C1834180 {source="OMIM:162600", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008089 @@ -148787,7 +148778,7 @@ xref: OMIM:162700 {source="MONDO:equivalentTo"} xref: SCTID:234576008 {source="MONDO:equivalentTo"} xref: UMLS:C2267231 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3665676 {source="OMIM:162700", source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3983/neutropenia-chronic-familial" xsd:anyURI {source="GARD:0003983"} [Term] @@ -148883,7 +148874,7 @@ xref: Orphanet:79414 {source="OMIM:162900"} xref: UMLS:C0265318 {source="OMIM:162900", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C0334082 {source="NCIT:C4088", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3665593 {source="OMIM:162900", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005073 {source="MESH:C580062"} ! melanocytic nevus is_a: MONDO:0005093 {source="DOID:0111162", source="NCIT:C4088/inferred"} ! skin disorder property_value: confidence "6.333333333333333" xsd:double @@ -148946,7 +148937,7 @@ xref: NCIT:C3943 {source="MONDO:equivalentTo"} xref: OMIM:163050 {source="MONDO:equivalentTo"} xref: SCTID:40929003 {source="MONDO:equivalentTo"} xref: UMLS:C0265982 {source="OMIM:163050", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="NCIT:C3943"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0021658 {source="NCIT:C3943"} ! vascular ectasia property_value: IAO:0000589 "nevus anemicus (disease)" xsd:string @@ -148959,7 +148950,7 @@ synonym: "Unna Nevus" RELATED [OMIM:163100] xref: MESH:C567524 {source="MONDO:equivalentTo"} xref: OMIM:163100 {source="MONDO:equivalentTo"} xref: UMLS:C2697447 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:163100"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008097 @@ -149005,7 +148996,6 @@ is_a: MONDO:0015950 {source="Orphanet:2612"} ! inherited skin tumor is_a: MONDO:0019755 ! developmental defect during embryogenesis is_a: MONDO:0020179 {source="Orphanet:2612"} ! palpebral nevus is_a: MONDO:0020205 {source="Orphanet:2612"} ! bulbar conjunctival dermoid or conjunctival dermolipoma -is_a: MONDO:0021147 ! disorder of development or morphogenesis relationship: has_characteristic MONDO:0021136 {source="MONDO:0017414"} ! rare property_value: confidence "2.846153846153847" xsd:double property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -149060,7 +149050,7 @@ synonym: "Mammillae Invertitae" RELATED [OMIM:163600] synonym: "nipples inverted" EXACT [OMIM:163600] xref: OMIM:163600 {source="MONDO:equivalentTo"} xref: UMLS:C0269269 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:163600"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008101 @@ -149077,7 +149067,7 @@ xref: OMIM:163700 {source="Orphanet:2456", source="MONDO:equivalentTo", source=" xref: Orphanet:2456 {source="OMIM:163700", source="MONDO:equivalentTo"} xref: UMLS:C0266010 {source="OMIM:163700", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C0266011 {source="OMIM:163700", source="Orphanet:2456", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0015854 ! supernumerary breasts property_value: confidence "0.0" xsd:double @@ -149147,7 +149137,7 @@ synonym: "potato Nose" RELATED [OMIM:164000] xref: MESH:C538354 {source="MONDO:equivalentTo"} xref: OMIM:164000 {source="MONDO:equivalentTo"} xref: UMLS:C1834118 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:164000"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008106 @@ -149177,7 +149167,7 @@ xref: MESH:C537857 {source="MONDO:equivalentTo"} xref: OMIM:164150 {source="MONDO:equivalentTo"} xref: Orphanet:651 {source="OMIM:164150"} xref: UMLS:C1834078 {source="OMIM:164150", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005712 {source="DC-OMIM:164150", source="MONDO:cjm"} ! congenital nystagmus property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9604/nystagmus-hereditary-vertical" xsd:anyURI {source="GARD:0009604"} @@ -149334,7 +149324,7 @@ xref: SCTID:192411009 {source="DOID:10933"} xref: SCTID:71478004 {source="DOID:10933"} xref: UMLS:C0028768 {source="DOID:10933", source="OMIM:164230", source="MONDO:notFoundInDiseaseSubset", source="NCIT:C88411"} xref: UMLS:C1834037 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005618 {source="DOID:10933", source="MESH:D009771", source="NCIT:C88411"} ! anxiety disorder property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -149535,7 +149525,7 @@ xref: OMIM:164750 {source="MONDO:equivalentTo"} xref: Orphanet:660 {source="OMIM:164750"} xref: UMLS:C0795690 {source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C3277235 {source="MONDO:equivalentTo", source="OMIM:164750"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0019015 {source="DC-OMIM:164750"} ! omphalocele property_value: confidence "48.99999999999989" xsd:double property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -149594,7 +149584,7 @@ synonym: "ophthalmoplegia, familial static" EXACT [OMIM:165000] xref: MESH:C563500 {source="MONDO:equivalentTo"} xref: OMIM:165000 {source="MONDO:equivalentTo"} xref: UMLS:C1833839 {source="MONDO:equivalentTo", source="OMIM:165000", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008129 @@ -149603,7 +149593,7 @@ synonym: "ophthalmoplegia, familial total, with iris transillumination" EXACT [O xref: MESH:C563499 {source="MONDO:equivalentTo"} xref: OMIM:165098 {source="MONDO:equivalentTo"} xref: UMLS:C1833836 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:165098"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008130 @@ -149825,7 +149815,7 @@ synonym: "ossified ear cartilages" EXACT [OMIM:165670] xref: MESH:C563488 {source="MONDO:equivalentTo"} xref: OMIM:165670 {source="MONDO:equivalentTo"} xref: UMLS:C1833791 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:165670"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008141 @@ -149837,7 +149827,7 @@ synonym: "ossicular malformations, familial" EXACT [OMIM:165680] xref: MESH:C537142 {source="MONDO:equivalentTo"} xref: OMIM:165680 {source="MONDO:equivalentTo"} xref: UMLS:C1833790 {source="OMIM:165680", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8184/ossicular-malformations-familial" xsd:anyURI {source="GARD:0008184"} [Term] @@ -150372,7 +150362,7 @@ xref: OMIM:166800 {source="MONDO:equivalentTo"} xref: Orphanet:2794 {source="OMIM:166800"} xref: UMLS:C0029899 {source="OMIM:166800"} xref: UMLS:CN032031 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005349 {source="DC-OMIM:166800", source="OMIM:166800"} ! otosclerosis [Term] @@ -150655,7 +150645,7 @@ xref: OMIM:167250 {source="MONDO:equivalentTo"} xref: Orphanet:280110 {source="OMIM:167250"} xref: UMLS:C1418399 {source="OMIM:167250", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C4085252 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005382 {source="DC-OMIM:167250", source="OMIM:167250"} ! bone Paget disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11280 {source="MONDO:mim2gene_medgen"} ! SQSTM1 @@ -150760,7 +150750,7 @@ name: palmaris longus muscle, absence of synonym: "palmaris longus muscle, absence of" EXACT [OMIM:167600] xref: OMIM:167600 {source="MONDO:equivalentTo"} xref: UMLS:C1868661 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:167600"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008182 @@ -150874,7 +150864,7 @@ synonym: "pancytopenia and occlusive vascular disease" EXACT [OMIM:167850] xref: MESH:C566836 {source="MONDO:equivalentTo"} xref: OMIM:167850 {source="MONDO:equivalentTo"} xref: UMLS:C1868652 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:167850"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008187 @@ -150907,7 +150897,7 @@ xref: MESH:C566832 {source="MONDO:equivalentTo"} xref: OMIM:167900 {source="MONDO:equivalentTo"} xref: UMLS:C0263385 {source="MONDO:equivalentTo", source="OMIM:167900"} xref: UMLS:C1868648 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008189 @@ -150926,7 +150916,7 @@ xref: NCIT:C4383 {source="MONDO:equivalentObsolete"} xref: OMIM:167950 {source="MONDO:equivalentTo"} xref: SCTID:237467005 {source="MONDO:equivalentTo"} xref: UMLS:C1868647 {source="NCIT:C4383", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:167950"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10174/florid-papillomatosis-of-the-nipple" xsd:anyURI {source="GARD:0010174"} [Term] @@ -151007,7 +150997,7 @@ xref: OMIM:168200 {source="MONDO:equivalentTo"} xref: SCTID:78305006 {source="MONDO:equivalentTo"} xref: UMLS:C0266029 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1868632 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:168200"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008195 @@ -151201,7 +151191,7 @@ name: Passovoy factor defect synonym: "Passovoy factor defect" EXACT [OMIM:168830] xref: OMIM:168830 {source="MONDO:equivalentTo"} xref: UMLS:C3149707 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:168830"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008204 @@ -151285,7 +151275,7 @@ synonym: "patella, familial recurrent dislocation of" EXACT [OMIM:169000] xref: MESH:C566816 {source="MONDO:equivalentTo"} xref: OMIM:169000 {source="MONDO:equivalentTo"} xref: UMLS:C1868575 {source="OMIM:169000", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008209 @@ -151381,7 +151371,7 @@ xref: MESH:D005660 {source="MONDO:equivalentTo"} xref: OMIM:169300 {source="MONDO:equivalentTo"} xref: SCTID:391987005 {source="MONDO:equivalentTo"} xref: UMLS:C0016842 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:169300"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: IAO:0000589 "pectus excavatum (disease)" xsd:string [Term] @@ -151446,7 +151436,7 @@ synonym: "pelvic lipomatosis with crossed renal ectopia" EXACT [OMIM:169545] xref: MESH:C566812 {source="MONDO:equivalentTo"} xref: OMIM:169545 {source="MONDO:equivalentTo"} xref: UMLS:C1868511 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:169545"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008217 @@ -151713,7 +151703,7 @@ xref: SCTID:2624008 {source="DOID:1474"} xref: SCTID:449908004 {source="DOID:1474", source="EFO:0006342"} xref: SCTID:49965002 {source="DOID:1474"} xref: UMLS:C0031106 {source="DOID:1474", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:170650"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005593 {source="OMIM:170650"} ! chronic periodontitis relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2528 {source="MONDO:mim2gene_medgen"} ! CTSC property_value: confidence "0.4917695473251029" xsd:double @@ -151782,7 +151772,7 @@ synonym: "peroneal nerve, accessory deep" EXACT [OMIM:170980] xref: MESH:C536001 {source="MONDO:equivalentTo"} xref: OMIM:170980 {source="MONDO:equivalentTo"} xref: UMLS:C1868426 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:170980"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8546/accessory-deep-peroneal-nerve" xsd:anyURI {source="GARD:0008546"} [Term] @@ -151792,7 +151782,7 @@ synonym: "peroxidase, salivary" EXACT [MONDO:Lexical, OMIM:170990] synonym: "SAPX" RELATED ABBREVIATION [MONDO:Lexical, OMIM:170990] xref: OMIM:170990 {source="MONDO:equivalentTo"} xref: UMLS:C1868425 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:170990"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008231 @@ -151814,7 +151804,7 @@ xref: SCTID:155931002 {source="DOID:8616"} xref: SCTID:198028006 {source="DOID:8616"} xref: UMLS:C0030848 {source="MONDO:equivalentTo", source="DOID:8616", source="MONDO:ncbi_mim2gene_medline", source="OMIM:171000"} is_a: MONDO:0002036 {source="DOID:8616"} ! penile disorder -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008232 @@ -151824,7 +151814,7 @@ synonym: "phagocytosis, plasma-related defect type 1N" EXACT [MONDORULE:4, OMIM: xref: MESH:C566808 {source="MONDO:equivalentTo"} xref: OMIM:171100 {source="MONDO:equivalentTo"} xref: UMLS:C1868402 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:171100"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: disease_disrupts GO:0006909 ! phagocytosis [Term] @@ -151908,7 +151898,7 @@ synonym: "pheochromocytoma-islet cell tumor syndrome" EXACT [GARD:0004321] xref: MESH:C566807 {source="MONDO:equivalentTo"} xref: OMIM:171420 {source="MONDO:equivalentTo"} xref: UMLS:C1868392 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:171420"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4321/pheochromocytoma-islet-cell-tumor-syndrome" xsd:anyURI {source="GARD:0004321"} [Term] @@ -151918,7 +151908,7 @@ synonym: "phlebectasia of lips" EXACT [OMIM:171450] xref: MESH:C566806 {source="MONDO:equivalentTo"} xref: OMIM:171450 {source="MONDO:equivalentTo"} xref: UMLS:C1868391 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:171450"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008237 @@ -151949,7 +151939,7 @@ synonym: "lysosomal acid phosphatase" RELATED [OMIM:171660] synonym: "phosphatase, acid, of tissues" EXACT [OMIM:171660] xref: OMIM:171660 {source="MONDO:equivalentTo"} xref: UMLS:C1876163 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:171660"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008239 @@ -151960,7 +151950,7 @@ synonym: "phosphoglucomutase 4" EXACT [OMIM:172110] synonym: "phosphoglucomutase type 4" EXACT [MONDORULE:1, OMIM:172110] xref: OMIM:172110 {source="MONDO:equivalentTo"} xref: UMLS:C1868356 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:172110"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008240 @@ -151981,7 +151971,7 @@ synonym: "phosphoglycoprotein 1" EXACT [MONDO:Lexical, OMIM:172290] synonym: "phosphoglycoprotein type 1" EXACT [MONDORULE:1, OMIM:172290] xref: OMIM:172290 {source="MONDO:equivalentTo"} xref: UMLS:C1868352 {source="OMIM:172290", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008242 @@ -151994,7 +151984,7 @@ xref: MESH:C538113 {source="MONDO:equivalentTo"} xref: OMIM:172500 {source="MONDO:equivalentTo"} xref: SCTID:237612000 {source="MONDO:equivalentTo"} xref: UMLS:C1809475 {source="OMIM:172500", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008243 @@ -152128,7 +152118,7 @@ xref: OMIM:172900 {source="MONDO:equivalentTo"} xref: SCTID:20343006 {source="MONDO:equivalentTo"} xref: UMLS:C0263396 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C0406515 {source="OMIM:172900", source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008249 @@ -152141,7 +152131,7 @@ xref: MESH:D010864 {source="MONDO:equivalentTo"} xref: OMIM:173000 {source="MONDO:equivalentTo"} xref: SCTID:47639008 {source="MONDO:equivalentTo"} xref: UMLS:C0031925 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:173000"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: IAO:0000589 "pilonidal sinus (disease)" xsd:string [Term] @@ -152217,7 +152207,7 @@ name: platelet adenylate cyclase activity synonym: "platelet adenylate cyclase activity" EXACT [OMIM:173395] xref: OMIM:173395 {source="MONDO:equivalentTo"} xref: UMLS:C1868264 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:173395"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008253 @@ -152226,7 +152216,7 @@ synonym: "platelet aggregation, spontaneous" EXACT [OMIM:173400] xref: MESH:C566800 {source="MONDO:equivalentTo"} xref: OMIM:173400 {source="MONDO:equivalentTo"} xref: UMLS:C1868263 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:173400"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008254 @@ -152235,7 +152225,7 @@ synonym: "platelet disorder, undefined" EXACT [OMIM:173420] xref: MESH:C566799 {source="MONDO:equivalentTo"} xref: OMIM:173420 {source="MONDO:equivalentTo"} xref: UMLS:C1868258 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:173420"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008255 @@ -152244,7 +152234,7 @@ synonym: "platelet factor 3 deficiency" EXACT [OMIM:173450] xref: MESH:C566798 {source="MONDO:equivalentTo"} xref: OMIM:173450 {source="MONDO:equivalentTo"} xref: UMLS:C1868256 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:173450"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008256 @@ -152253,7 +152243,7 @@ synonym: "platelet membrane fluidity" EXACT [MONDO:Lexical, OMIM:173560] synonym: "PMF" RELATED ABBREVIATION [MONDO:Lexical, OMIM:173560] xref: OMIM:173560 {source="MONDO:equivalentTo"} xref: UMLS:C1868201 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:173560"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008257 @@ -152261,7 +152251,7 @@ name: platelet responsiveness to adrenaline, depressed synonym: "platelet responsiveness to adrenaline, depressed" EXACT [OMIM:173580] xref: OMIM:173580 {source="MONDO:equivalentTo"} xref: UMLS:C1868200 {source="OMIM:173580", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008258 @@ -152270,7 +152260,7 @@ synonym: "platelet signal processing defect" EXACT [OMIM:173590] xref: MESH:C566796 {source="MONDO:equivalentTo"} xref: OMIM:173590 {source="MONDO:equivalentTo"} xref: UMLS:C1868199 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:173590"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008259 @@ -152861,8 +152851,6 @@ is_a: MONDO:0015185 {source="Orphanet:2869"} ! intestinal polyposis syndrome is_a: MONDO:0015356 {source="MESH:D010580", source="MONDO:Redundant", source="NCIT:C3324", source="Orphanet:2869/inferred"} ! hereditary neoplastic syndrome is_a: MONDO:0017128 {source="MONDO:Redundant", source="Orphanet:2869"} ! inherited digestive tract tumor is_a: MONDO:0018188 {source="Orphanet:2869"} ! hereditary intestinal polyposis -is_a: MONDO:0019755 ! developmental defect during embryogenesis -is_a: MONDO:0021147 ! disorder of development or morphogenesis relationship: disease_has_feature MONDO:0006365 {source="NCIT:C3324"} ! Peutz-Jeghers polyp relationship: disease_has_feature MONDO:0019289 {source="Orphanet:2869"} ! hyperpigmentation of the skin relationship: disease_has_feature MONDO:0020178 {source="Orphanet:2869"} ! palpebral lentiginosis @@ -152880,7 +152868,7 @@ synonym: "polyps, scattered, discrete intestinal" RELATED [OMIM:175400] xref: OMIM:175400 {source="MONDO:equivalentTo"} xref: UMLS:C1868006 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:175400"} is_a: MONDO:0000147 {source="DC-OMIM:175400"} ! polyposis -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008282 @@ -152930,7 +152918,7 @@ xref: MESH:C566775 {source="MONDO:equivalentTo"} xref: OMIM:175505 {source="MONDO:equivalentObsolete"} xref: UMLS:C1868001 {source="OMIM:175505", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000147 {source="DC-OMIM:175505"} ! polyposis -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008285 @@ -152940,7 +152928,7 @@ synonym: "polyps, multiple and recurrent inflammatory fibroid, gastrointestinal" xref: MESH:C566774 {source="MONDO:equivalentTo"} xref: OMIM:175510 {source="MONDO:equivalentTo"} xref: UMLS:C1868000 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:175510"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -153001,7 +152989,7 @@ xref: MESH:D011151 {source="MONDO:equivalentTo"} xref: OMIM:175750 {source="MONDO:equivalentTo"} xref: SCTID:82675004 {source="MONDO:equivalentTo"} xref: UMLS:C0032650 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:175750"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008289 @@ -153504,7 +153492,7 @@ synonym: "presenile dementia, Kraepelin type" EXACT [OMIM:176600] xref: MESH:C535273 {source="MONDO:equivalentTo"} xref: OMIM:176600 {source="MONDO:equivalentTo"} xref: UMLS:C1867772 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:176600"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10032/presenile-dementia-kraepelin-type" xsd:anyURI {source="GARD:0010032"} [Term] @@ -153515,7 +153503,7 @@ synonym: "priapism, familial idiopathic" EXACT [OMIM:176620] xref: MESH:C531791 {source="MONDO:equivalentTo"} xref: OMIM:176620 {source="MONDO:equivalentTo"} xref: UMLS:C1867771 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:176620"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_characteristic MONDO:0700005 ! idiopathic [Term] @@ -153649,7 +153637,7 @@ synonym: "pronation-supination of the forearm, impairment of" EXACT [OMIM:176800 xref: MESH:C566757 {source="MONDO:equivalentTo"} xref: OMIM:176800 {source="MONDO:equivalentTo"} xref: UMLS:C1867726 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:176800"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008315 @@ -153723,7 +153711,7 @@ name: proteolytic capacity of plasma synonym: "proteolytic capacity of plasma" EXACT [OMIM:176900] xref: OMIM:176900 {source="MONDO:equivalentTo"} xref: UMLS:C1867621 {source="OMIM:176900", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008318 @@ -153791,7 +153779,7 @@ xref: HP:0003179 {source="MONDO:otherHierarchy"} xref: OMIM:177050 {source="MONDO:equivalentTo"} xref: SCTID:59606006 {source="MONDO:equivalentTo"} xref: UMLS:C0409495 {source="OMIM:177050", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: IAO:0000589 "Protrusio acetabuli (disease)" xsd:string [Term] @@ -153801,7 +153789,7 @@ synonym: "pruritus, hereditary localized" EXACT [OMIM:177100] xref: MESH:C566754 {source="MONDO:equivalentTo"} xref: OMIM:177100 {source="MONDO:equivalentTo"} xref: UMLS:C1867499 {source="MONDO:equivalentTo", source="OMIM:177100", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: disease_has_feature HP:0000989 ! Pruritus [Term] @@ -153873,7 +153861,7 @@ synonym: "pseudoarthrogryposis" EXACT [OMIM:177300] xref: MESH:C566753 {source="MONDO:equivalentTo"} xref: OMIM:177300 {source="MONDO:equivalentTo"} xref: UMLS:C1867485 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:177300"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008325 @@ -153883,7 +153871,7 @@ xref: MESH:C562909 {source="MONDO:equivalentTo"} xref: OMIM:177350 {source="MONDO:equivalentTo"} xref: SCTID:238840009 {source="MONDO:equivalentTo"} xref: UMLS:C0406561 {source="OMIM:177350", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008326 @@ -153974,7 +153962,7 @@ xref: MESH:C562988 {source="MONDO:equivalentTo"} xref: OMIM:177750 {source="MONDO:equivalentTo"} xref: SCTID:254229006 {source="MONDO:equivalentTo"} xref: UMLS:C0432346 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:177750"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008331 @@ -154100,7 +154088,7 @@ synonym: "pterygium colli, isolated" EXACT [OMIM:177990] xref: MESH:C566741 {source="MONDO:equivalentTo"} xref: OMIM:177990 {source="MONDO:equivalentTo"} xref: UMLS:C1867442 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:177990"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008337 @@ -154238,7 +154226,7 @@ xref: OMIM:178370 {source="Orphanet:1207/e", source="MONDO:equivalentTo", source xref: Orphanet:1207 {source="OMIM:178370", source="MONDO:equivalentTo"} xref: SCTID:253591008 {source="MONDO:equivalentTo"} xref: UMLS:C0344976 {source="OMIM:178370", source="Orphanet:1207/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C99033", source="Orphanet:1207"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0016581 {source="Orphanet:1207"} ! conotruncal heart malformations property_value: confidence "8.375" xsd:double property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4588/pulmonary-atresia-with-ventricular-septal-defect" xsd:anyURI {source="GARD:0004588"} @@ -154357,7 +154345,7 @@ synonym: "pulmonic stenosis, atrial septal defect, and unique electrocardiograph xref: MESH:C566733 {source="MONDO:equivalentTo"} xref: OMIM:178650 {source="MONDO:equivalentTo"} xref: UMLS:C1867407 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:178650"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008350 @@ -154365,7 +154353,7 @@ name: pulmonic stenosis and deafness synonym: "pulmonic stenosis and deafness" EXACT [OMIM:178651] xref: OMIM:178651 {source="MONDO:equivalentTo"} xref: UMLS:C1867406 {source="MONDO:equivalentTo", source="OMIM:178651", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008351 @@ -154389,7 +154377,7 @@ synonym: "pupillary membrane, persistence of" EXACT [OMIM:178900] xref: MESH:C562700 {source="MONDO:equivalentTo"} xref: OMIM:178900 {source="MONDO:equivalentTo"} xref: UMLS:C0271130 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:178900"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008353 @@ -154423,7 +154411,7 @@ xref: MESH:C536249 {source="MONDO:equivalentTo"} xref: OMIM:179000 {source="MONDO:equivalentTo"} xref: SCTID:277791008 {source="MONDO:equivalentTo"} xref: UMLS:C0272309 {source="OMIM:179000", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008355 @@ -154435,7 +154423,7 @@ synonym: "pyloric stenosis, infantile hypertrophic 1, multifactorial" EXACT [OMI synonym: "pyloric stenosis, infantile hypertrophic, 1" EXACT [MONDO:Lexical, OMIM:179010] xref: OMIM:179010 {source="MONDO:equivalentTo"} xref: UMLS:C1867403 {source="OMIM:179010", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0100239 {source="DC-OMIM:179010", source="OMIM:179010"} ! inherited hypertrophic pyloric stenosis property_value: confidence "3.8773052888279222" xsd:double property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -154447,7 +154435,7 @@ synonym: "radial heads, posterior dislocation of" EXACT [OMIM:179200] xref: MESH:C566728 {source="MONDO:equivalentTo"} xref: OMIM:179200 {source="MONDO:equivalentTo"} xref: UMLS:C1867398 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:179200"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008357 @@ -154528,7 +154516,7 @@ name: radius, aplasia of, with cleft lip/palate synonym: "radius, aplasia of, with cleft lip/palate" EXACT [OMIM:179400] xref: OMIM:179400 {source="MONDO:equivalentTo"} xref: UMLS:C1867395 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:179400"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008362 @@ -154537,7 +154525,7 @@ synonym: "ragweed sensitivity" EXACT [OMIM:179450] xref: MESH:C566725 {source="MONDO:equivalentTo"} xref: OMIM:179450 {source="MONDO:equivalentTo"} xref: UMLS:C1867394 {source="OMIM:179450", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008363 @@ -154546,7 +154534,7 @@ synonym: "raindrop hypopigmentation" EXACT [OMIM:179500] xref: MESH:C566724 {source="MONDO:equivalentTo"} xref: OMIM:179500 {source="MONDO:equivalentTo"} xref: UMLS:C1867393 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:179500"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008364 @@ -154574,7 +154562,7 @@ xref: SCTID:123266007 {source="DOID:10300"} xref: SCTID:195295006 {source="EFO:1001145", source="MONDO:equivalentTo", source="DOID:10300"} xref: SCTID:22954002 {source="DOID:10300"} xref: UMLS:C0034734 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C116359", source="OMIM:179600", source="DOID:10300"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005294 {source="DOID:10300", source="EFO:1001145", source="MESH:D011928", source="NCIT:C116359/inferred"} ! peripheral vascular disease [Term] @@ -154606,7 +154594,7 @@ synonym: "elliptocytosis with transverse slitlike changes" RELATED [OMIM:179650] synonym: "red cell permeability defect" EXACT [OMIM:179650] xref: OMIM:179650 {source="MONDO:equivalentTo"} xref: UMLS:C1867340 {source="OMIM:179650", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008367 @@ -154785,7 +154773,7 @@ xref: SCTID:155103005 {source="DOID:5327"} xref: SCTID:193347002 {source="DOID:5327"} xref: SCTID:42059000 {source="EFO:0005773", source="MONDO:equivalentTo", source="DOID:5327"} xref: UMLS:C0035305 {source="EFO:0005773", source="MONDO:equivalentTo", source="NCIT:C26874", source="DOID:5327", source="MONDO:ncbi_mim2gene_medline", source="OMIM:180050"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005283 {source="DOID:5327", source="MESH:D012163", source="MONDO:Redundant"} ! retinal disorder relationship: disease_has_location UBERON:0000966 {source="EFO:0000784"} ! retina @@ -154796,7 +154784,7 @@ synonym: "retinal venous beading" EXACT [OMIM:180080] xref: OMIM:180080 {source="MONDO:equivalentTo"} xref: UMLS:C0423397 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2939143 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:180080"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008377 @@ -154997,7 +154985,7 @@ synonym: "rhiny" EXACT [OMIM:180360] xref: MESH:C566708 {source="MONDO:equivalentTo"} xref: OMIM:180360 {source="MONDO:equivalentTo"} xref: UMLS:C1867222 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:180360"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008386 @@ -155116,7 +155104,7 @@ xref: OMIM:180750 {source="MONDO:equivalentTo"} xref: Orphanet:3106 {source="OMIM:180750", source="MONDO:equivalentObsolete"} xref: UMLS:C1867146 {source="OMIM:180750", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:CN203672 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12428 {source="MONDO:mim2gene_medgen"} ! TWIST1 [Term] @@ -155280,7 +155268,7 @@ name: salivary substance, Clostridium botulinum type synonym: "salivary substance, Clostridium botulinum type" EXACT [OMIM:180950] xref: OMIM:180950 {source="MONDO:equivalentTo"} xref: UMLS:C1867056 {source="OMIM:180950", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008399 @@ -155315,7 +155303,7 @@ synonym: "submandibular duct calculi" RELATED [OMIM:181010] xref: MESH:D012465 {source="MONDO:equivalentTo"} xref: OMIM:181010 {source="MONDO:equivalentTo"} xref: UMLS:C0036089 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:181010"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008401 @@ -155764,7 +155752,7 @@ xref: SCTID:398838000 {source="DOID:6498", source="MONDO:relatedTo", source="EFO xref: SCTID:50563003 {source="DOID:6498"} xref: UMLS:C0022603 {source="DOID:6498", source="NCIT:C9006", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:182000"} xref: Wikipedia:Seborrheic_keratosis {source="EFO:0005584"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0006566 {source="DOID:6498", source="MESH:D017492"} ! keratosis relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8975 {source="MONDO:mim2gene_medgen"} ! PIK3CA property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -155828,7 +155816,7 @@ synonym: "sella turcica, bridged" EXACT [OMIM:182200] xref: MESH:C566689 {source="MONDO:equivalentTo"} xref: OMIM:182200 {source="MONDO:equivalentTo"} xref: UMLS:C1866959 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:182200"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008425 @@ -155893,7 +155881,7 @@ synonym: "SCE, frequency of" RELATED [OMIM:182220] synonym: "sister chromatid exchange, frequency of" EXACT [OMIM:182220] xref: OMIM:182220 {source="MONDO:equivalentTo"} xref: UMLS:C1866942 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:182220"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008428 @@ -155968,7 +155956,7 @@ synonym: "skeletal dysplasia with delayed epiphyseal and carpal bone ossificatio xref: MESH:C566687 {source="MONDO:equivalentTo"} xref: OMIM:182255 {source="MONDO:equivalentTo"} xref: UMLS:C1866939 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:182255"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008431 @@ -156090,7 +156078,7 @@ name: Somatomedin, embryonic synonym: "Somatomedin, embryonic" EXACT [OMIM:182400] xref: OMIM:182400 {source="MONDO:equivalentTo"} xref: UMLS:C1866879 {source="OMIM:182400", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008436 @@ -156322,7 +156310,7 @@ synonym: "PRM4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:182882] synonym: "sperm protamine P4" EXACT [MONDO:Lexical, OMIM:182882] xref: OMIM:182882 {source="MONDO:equivalentTo"} xref: UMLS:C1866801 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:182882"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008447 @@ -156604,7 +156592,7 @@ synonym: "splenomegaly syndrome with splenic Germinal center hypoplasia and redu xref: MESH:C566666 {source="MONDO:equivalentTo"} xref: OMIM:183350 {source="MONDO:equivalentTo"} xref: UMLS:C1866744 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:183350"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008462 @@ -156613,7 +156601,7 @@ synonym: "split lower lip" EXACT [OMIM:183400] synonym: "split Lower type lip" EXACT [MONDORULE:4, OMIM:183400] xref: OMIM:183400 {source="MONDO:equivalentTo"} xref: UMLS:C1866743 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:183400"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008463 @@ -156622,7 +156610,7 @@ synonym: "split-hand and split-foot with hypodontia" EXACT [OMIM:183500] xref: MESH:C566665 {source="MONDO:equivalentTo"} xref: OMIM:183500 {source="MONDO:equivalentTo"} xref: UMLS:C1866742 {source="OMIM:183500", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008464 @@ -156873,7 +156861,7 @@ xref: SCTID:268349005 {source="DOID:6682"} xref: SCTID:274152003 {source="MONDO:equivalentTo", source="DOID:6682"} xref: UMLS:C0038016 {source="NCIT:C35033", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:6682", source="OMIM:184200"} is_a: MONDO:0000836 {source="DOID:6682"} ! disease of bone structure -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: IAO:0000589 "spondylolisthesis (disease)" xsd:string [Term] @@ -157018,7 +157006,7 @@ synonym: "spondylosis, cervical" EXACT [OMIM:184300] xref: OMIM:184300 {source="MONDO:equivalentTo"} xref: SCTID:387800004 {source="MONDO:equivalentTo"} xref: UMLS:C1384641 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:184300"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008482 @@ -157052,7 +157040,7 @@ synonym: "stuttering, familial persistent, 1" EXACT [OMIM:184450] xref: OMIM:184450 {source="MONDO:equivalentTo"} xref: UMLS:C3489627 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:184450"} is_a: MONDO:0000723 {source="DC-OMIM:184450", source="OMIM:184450"} ! stutter disorder -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/573 {source="MONDO:mim2gene_medgen"} ! AP4E1 [Term] @@ -157146,7 +157134,7 @@ xref: SCTID:69878008 {source="EFO:0000660", source="DOID:11612", source="MONDO:e xref: UMLS:C0032460 {source="OMIM:184700", source="DOID:11612", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C26862"} xref: UMLS:C1299574 {source="OMIM:184700", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0002254 {source="DOID:11612", source="NCIT:C26862"} ! syndromic disease -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005151 {source="EFO:0000660", source="MESH:D011085/inferred"} ! endocrine system disorder property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -157177,7 +157165,7 @@ name: sternum, premature obliteration of sutures of synonym: "sternum, premature obliteration of sutures of" EXACT [OMIM:184800] xref: OMIM:184800 {source="MONDO:equivalentTo"} xref: UMLS:C1861485 {source="OMIM:184800", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008490 @@ -157454,7 +157442,7 @@ synonym: "striae distensae, familial" EXACT [OMIM:185200] xref: MESH:C566104 {source="MONDO:equivalentTo"} xref: OMIM:185200 {source="MONDO:equivalentTo"} xref: UMLS:C1861447 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:185200"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008501 @@ -157513,7 +157501,7 @@ synonym: "sulfhemoglobinemia, congenital" EXACT [OMIM:185460] xref: MESH:C566102 {source="MONDO:equivalentTo"} xref: OMIM:185460 {source="MONDO:equivalentTo"} xref: UMLS:C1861437 {source="MONDO:equivalentTo", source="OMIM:185460", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0006988 {source="https://orcid.org/0000-0001-5208-3432"} ! sulfhemoglobinemia relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -157583,7 +157571,7 @@ synonym: "surface antigen, glycoprotein type 75" EXACT [MONDORULE:2, OMIM:185540 synonym: "surface glycoprotein 75" RELATED [OMIM:185540] xref: OMIM:185540 {source="MONDO:equivalentTo"} xref: UMLS:C1861423 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:185540"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008506 @@ -157593,7 +157581,7 @@ xref: MESH:C566101 {source="MONDO:equivalentTo"} xref: OMIM:185600 {source="MONDO:equivalentTo"} xref: UMLS:C1861418 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:185600"} is_a: MONDO:0000151 {source="DC-OMIM:185600"} ! symphalangism -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008507 @@ -157603,7 +157591,7 @@ synonym: "Spa5" RELATED [OMIM:185610] synonym: "surface polypeptides, anonymous" EXACT [OMIM:185610] xref: OMIM:185610 {source="MONDO:equivalentTo"} xref: UMLS:C1861417 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:185610"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008508 @@ -157615,7 +157603,7 @@ xref: MESH:C566100 {source="MONDO:equivalentTo"} xref: OMIM:185650 {source="MONDO:equivalentTo"} xref: UMLS:C1861404 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:185650"} is_a: MONDO:0000151 {source="DC-OMIM:185650"} ! symphalangism -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008509 @@ -158037,7 +158025,7 @@ synonym: "syringomas, multiple" EXACT [OMIM:186600] xref: MESH:C566085 {source="MONDO:equivalentTo"} xref: OMIM:186600 {source="MONDO:equivalentTo"} xref: UMLS:C1861302 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:186600"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008525 @@ -158059,7 +158047,7 @@ synonym: "talonavicular coalition" EXACT [OMIM:186750] xref: MESH:C536895 {source="MONDO:equivalentTo"} xref: OMIM:186750 {source="MONDO:equivalentTo"} xref: UMLS:C1861296 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:186750"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10062/talonavicular-coalition" xsd:anyURI {source="GARD:0010062"} [Term] @@ -158073,7 +158061,7 @@ xref: OMIM:186850 {source="MONDO:equivalentTo"} xref: SCTID:27173008 {source="MONDO:equivalentTo"} xref: UMLS:C0265654 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:186850"} xref: UMLS:C1406822 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008528 @@ -158081,7 +158069,7 @@ name: tear protein, anodal synonym: "tear protein, anodal" EXACT [OMIM:186890] xref: OMIM:186890 {source="MONDO:equivalentTo"} xref: UMLS:C1861283 {source="MONDO:equivalentTo", source="OMIM:186890", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008529 @@ -158089,7 +158077,7 @@ name: T-cell Subgroups, non-HLA-linked synonym: "T-cell Subgroups, non-HLA-linked" EXACT [OMIM:186950] xref: OMIM:186950 {source="MONDO:equivalentTo"} xref: UMLS:C1861277 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:186950"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008530 @@ -158102,7 +158090,7 @@ xref: OMIM:187000 {source="MONDO:equivalentTo"} xref: UMLS:C1861274 {source="MONDO:equivalentTo", source="OMIM:187000", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C1861275 {source="OMIM:187000", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1861276 {source="OMIM:187000", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008531 @@ -158124,7 +158112,7 @@ xref: HP:0000695 {source="MONDO:otherHierarchy"} xref: OMIM:187050 {source="MONDO:equivalentTo"} xref: SCTID:21995002 {source="MONDO:equivalentTo"} xref: UMLS:C0027443 {source="OMIM:187050", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: IAO:0000589 "teeth present at birth (disease)" xsd:string [Term] @@ -158137,7 +158125,7 @@ xref: MESH:D014096 {source="MONDO:equivalentTo"} xref: OMIM:187100 {source="MONDO:equivalentTo"} xref: SCTID:8666004 {source="MONDO:equivalentTo"} xref: UMLS:C0040457 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:187100"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008534 @@ -158188,7 +158176,7 @@ name: temperature-sensitive lethal mutation synonym: "temperature-sensitive lethal mutation" EXACT [OMIM:187340] xref: OMIM:187340 {source="MONDO:equivalentTo"} xref: UMLS:C1861242 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:187340"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008537 @@ -158303,7 +158291,7 @@ xref: SCTID:49198006 {source="DOID:11996"} xref: SCTID:81996005 {source="DOID:11996", source="MONDO:equivalentTo"} xref: UMLS:C0037856 {source="DOID:11996", source="MONDO:equivalentTo", source="NCIT:C26885", source="MONDO:ncbi_mim2gene_medline", source="OMIM:187400"} is_a: MONDO:0002329 {source="DOID:11996", source="NCIT:C26885/inferred"} ! testicular disorder -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008542 @@ -158331,7 +158319,7 @@ xref: SCTID:204307003 {source="DOID:6419"} xref: SCTID:268177006 {source="DOID:6419"} xref: SCTID:86299006 {source="MONDO:equivalentTo", source="DOID:6419"} xref: UMLS:C0039685 {source="Orphanet:3303", source="NCIT:C84505", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:6419", source="Orphanet:3303/e", source="OMIM:187500"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005453 {source="DOID:6419", source="MESH:D013771", source="NCIT:C84505"} ! congenital heart disease is_a: MONDO:0016581 {source="Orphanet:3303"} ! conotruncal heart malformations property_value: confidence "5.666666666666667" xsd:double @@ -158346,7 +158334,7 @@ synonym: "tetralogy of fallot and glaucoma" EXACT [OMIM:187501] xref: MESH:C536501 {source="MONDO:equivalentTo"} xref: OMIM:187501 {source="MONDO:equivalentTo"} xref: UMLS:C1861234 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:187501"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10107/tetralogy-of-fallot-and-glaucoma" xsd:anyURI {source="GARD:0010107"} [Term] @@ -158468,7 +158456,7 @@ synonym: "thoracic dysostosis, isolated" EXACT [OMIM:187750] xref: MESH:C566063 {source="MONDO:equivalentTo"} xref: OMIM:187750 {source="MONDO:equivalentTo"} xref: UMLS:C1861204 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:187750"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008550 @@ -158608,7 +158596,7 @@ xref: MESH:C536899 {source="MONDO:equivalentTo"} xref: OMIM:188020 {source="MONDO:equivalentTo"} xref: SCTID:48788004 {source="MONDO:equivalentTo"} xref: UMLS:C0272282 {source="OMIM:188020", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0100241 {source="DC-OMIM:188020", source="MESH:C536899"} ! inherited thrombocytopenia property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9862/cyclic-thrombocytopenia" xsd:anyURI {source="GARD:0009862"} @@ -158754,7 +158742,7 @@ xref: HP:0001172 {source="MONDO:otherHierarchy"} xref: MESH:C536903 {source="MONDO:equivalentTo"} xref: OMIM:188100 {source="MONDO:equivalentTo"} xref: UMLS:C0575897 {source="OMIM:188100", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: IAO:0000589 "thumb deformity (disease)" xsd:string [Term] @@ -158925,7 +158913,7 @@ synonym: "thyroid hormone resistance due to T4 plasma Membrane Transport defect" xref: MESH:C536916 {source="MONDO:equivalentTo"} xref: OMIM:188560 {source="MONDO:equivalentTo"} xref: UMLS:C1861101 {source="OMIM:188560", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: disease_disrupts GO:0015349 ! thyroid hormone transmembrane transporter activity property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8499/thyroid-hormone-plasma-membrane-transport-defect" xsd:anyURI {source="GARD:0008499"} @@ -159030,7 +159018,7 @@ synonym: "tibial torsion, bilateral medial" EXACT [OMIM:188800] xref: MESH:C566045 {source="MONDO:equivalentTo"} xref: OMIM:188800 {source="MONDO:equivalentTo"} xref: UMLS:C1861097 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:188800"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008574 @@ -159071,7 +159059,7 @@ synonym: "toe, fifth, number of phalanges IN" RELATED [OMIM:189000] synonym: "toe, fifth, number of phalanges type 1N" EXACT [MONDORULE:4, OMIM:189000] xref: OMIM:189000 {source="MONDO:equivalentTo"} xref: UMLS:C1861062 {source="OMIM:189000", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008577 @@ -159079,7 +159067,7 @@ name: toe, misshapen synonym: "toe, misshapen" EXACT [OMIM:189100] xref: OMIM:189100 {source="MONDO:equivalentTo"} xref: UMLS:C1861061 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:189100"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008578 @@ -159087,7 +159075,7 @@ name: toe, rotated fifth synonym: "toe, rotated fifth" EXACT [OMIM:189150] xref: OMIM:189150 {source="MONDO:equivalentTo"} xref: UMLS:C1861060 {source="OMIM:189150", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008579 @@ -159095,7 +159083,7 @@ name: toes, relative length of first and second synonym: "toes, relative length of first and second" EXACT [OMIM:189200] xref: OMIM:189200 {source="MONDO:equivalentTo"} xref: UMLS:C1861059 {source="OMIM:189200", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008580 @@ -159103,7 +159091,7 @@ name: toes, space between first and second synonym: "toes, space between first and second" EXACT [OMIM:189230] xref: OMIM:189230 {source="MONDO:equivalentTo"} xref: UMLS:C1861058 {source="OMIM:189230", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008581 @@ -159112,7 +159100,7 @@ synonym: "ectopic eruption of teeth" RELATED [OMIM:189490] synonym: "malposition of teeth with or without hypodontia/oligodontia" EXACT [OMIM:189490] xref: OMIM:189490 {source="MONDO:equivalentTo"} xref: UMLS:C2752157 {source="OMIM:189490", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008582 @@ -159180,7 +159168,7 @@ xref: OMIM:189600 {source="MONDO:equivalentTo", source="GARD:0004908"} xref: SCTID:268240006 {source="MONDO:equivalentTo"} xref: SCTID:70070008 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: UMLS:C0040485 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:189600"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005031 {source="NCIT:C4811"} ! fibromatosis property_value: IAO:0000589 "inherited torticollis (disease)" xsd:string property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4908/congenital-torticollis" xsd:anyURI {source="GARD:0004908"} @@ -159192,7 +159180,7 @@ synonym: "torus palatinus and torus mandibularis" EXACT [OMIM:189700] xref: MESH:C566043 {source="MONDO:equivalentTo"} xref: OMIM:189700 {source="MONDO:equivalentTo"} xref: UMLS:C1861044 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:189700"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008585 @@ -159334,7 +159322,7 @@ xref: OMIM:190300 {source="MONDO:equivalentTo"} xref: Orphanet:862 {source="OMIM:190300"} xref: UMLS:C1860861 {source="OMIM:190300", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0003233 {source="DC-OMIM:190300", source="MESH:C536545", source="MONDO:Redundant", source="OMIM:190300"} ! essential tremor -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease intersection_of: MONDO:0003233 ! essential tremor intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3024 ! DRD3 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3024 {source="MONDO:mim2gene_medgen"} ! DRD3 @@ -159399,7 +159387,7 @@ synonym: "trichomegaly" EXACT [MONDO:Lexical, OMIM:190330] xref: OMIM:190330 {source="MONDO:equivalentTo"} xref: Orphanet:411788 {source="OMIM:190330"} xref: UMLS:C0854699 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:190330"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3683 {source="MONDO:mim2gene_medgen"} ! FGF5 [Term] @@ -159418,7 +159406,7 @@ xref: MESH:C536847 {source="MONDO:equivalentTo"} xref: OMIM:190340 {source="Orphanet:538756", source="MONDO:equivalentTo"} xref: Orphanet:538756 {source="MONDO:equivalentTo"} xref: UMLS:C1860850 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:190340"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0015950 {source="Orphanet:538756"} ! inherited skin tumor [Term] @@ -159428,7 +159416,7 @@ synonym: "trichoepitheliomas, multiple desmoplastic" EXACT [OMIM:190345] xref: MESH:C566034 {source="MONDO:equivalentTo"} xref: OMIM:190345 {source="MONDO:equivalentTo"} xref: UMLS:C1860849 {source="OMIM:190345", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: disease_has_feature MONDO:0020593 ! trichoblastoma [Term] @@ -159545,7 +159533,7 @@ xref: OMIM:190410 {source="MONDO:equivalentTo"} xref: SCTID:42786005 {source="MONDO:equivalentTo"} xref: UMLS:C0158328 {source="MONDO:equivalentTo"} xref: UMLS:C0410060 {source="OMIM:190410", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8484/trigger-thumb" xsd:anyURI {source="GARD:0008484"} [Term] @@ -159593,7 +159581,7 @@ synonym: "triphalangeal thumb with double phalanges" EXACT [OMIM:190500] xref: MESH:C566028 {source="MONDO:equivalentTo"} xref: OMIM:190500 {source="MONDO:equivalentTo"} xref: UMLS:C1860807 {source="OMIM:190500", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008605 @@ -159606,7 +159594,7 @@ xref: MESH:C536562 {source="MONDO:equivalentTo"} xref: OMIM:190600 {source="MONDO:equivalentTo"} xref: UMLS:C1860806 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2931238 {source="OMIM:190600", source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008606 @@ -159716,7 +159704,7 @@ synonym: "eyelashes, three rows of" RELATED [OMIM:190800] synonym: "Tristichiasis" EXACT [OMIM:190800] xref: OMIM:190800 {source="MONDO:equivalentTo"} xref: UMLS:C1860785 {source="OMIM:190800", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008610 @@ -159806,7 +159794,7 @@ xref: MESH:C562872 {source="MONDO:equivalentTo"} xref: OMIM:191150 {source="MONDO:equivalentTo"} xref: SCTID:234584007 {source="MONDO:equivalentTo"} xref: UMLS:C0398741 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:191150"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008614 @@ -159818,7 +159806,7 @@ synonym: "suppressor of tumorigenicity 3" EXACT [MONDO:Lexical, OMIM:191181] synonym: "tumor-suppressor Gene, Hela cell type" RELATED [OMIM:191181] xref: OMIM:191181 {source="MONDO:equivalentTo"} xref: UMLS:C1860658 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:191181"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -159833,7 +159821,7 @@ xref: MESH:C566019 {source="MONDO:equivalentTo"} xref: OMIM:191200 {source="MONDO:equivalentTo"} xref: SCTID:55647004 {source="MONDO:equivalentTo"} xref: UMLS:C1860646 {source="OMIM:191200", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008616 @@ -159970,7 +159958,7 @@ synonym: "Undritz anomaly" EXACT [OMIM:191500] xref: MESH:C566014 {source="MONDO:equivalentTo"} xref: OMIM:191500 {source="MONDO:equivalentTo"} xref: UMLS:C1860604 {source="OMIM:191500", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008624 @@ -160014,7 +160002,7 @@ synonym: "ureter, bifid or double" EXACT [OMIM:191550] xref: MESH:C566012 {source="MONDO:equivalentTo"} xref: OMIM:191550 {source="MONDO:equivalentTo"} xref: UMLS:C1860586 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:191550"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008627 @@ -160067,7 +160055,7 @@ xref: OMIM:191650 {source="MONDO:equivalentTo", source="DOID:4022"} xref: SCTID:12818004 {source="MONDO:equivalentTo", source="EFO:1001227", source="DOID:4022"} xref: UMLS:C0041960 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="NCIT:C123159", source="DOID:4022", source="OMIM:191650"} is_a: MONDO:0001926 {source="DOID:4022", source="MESH:D014518", source="NCIT:C123159/inferred"} ! ureteral disorder -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0006026 {source="EFO:1001227"} ! urinary bladder disorder property_value: IAO:0000589 "ureterocele (disease)" xsd:string @@ -160079,7 +160067,7 @@ synonym: "urolithiasis, uric acid, autosomal dominant" EXACT [OMIM:191700] xref: DOID:0080654 {source="MONDO:equivalentTo"} xref: OMIM:191700 {source="MONDO:equivalentTo"} xref: UMLS:C2674049 {source="OMIM:191700", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008630 @@ -160089,7 +160077,7 @@ synonym: "bladder dysfunction, autonomic, with impaired pupillary reflex and sec synonym: "urinary bladder, atony of" EXACT [OMIM:191800] xref: OMIM:191800 {source="MONDO:equivalentTo"} xref: UMLS:C0403645 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:191800"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -160110,7 +160098,7 @@ xref: MESH:C562481 {source="MONDO:equivalentTo"} xref: OMIM:191850 {source="MONDO:equivalentTo"} xref: SCTID:89870006 {source="MONDO:equivalentTo"} xref: UMLS:C0263334 {source="OMIM:191850", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease intersection_of: MONDO:0005492 ! urticaria intersection_of: realized_in_response_to ECTO:9000156 ! exposure to water property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10901/aquagenic-urticaria" xsd:anyURI {source="GARD:0010901"} @@ -160154,7 +160142,7 @@ synonym: "urticaria, familial localized heat" EXACT [OMIM:191950] xref: MESH:C566011 {source="MONDO:equivalentTo"} xref: OMIM:191950 {source="MONDO:equivalentTo"} xref: UMLS:C1860551 {source="OMIM:191950", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005492 {source="https://orcid.org/0000-0001-5208-3432"} ! urticaria [Term] @@ -160164,7 +160152,7 @@ synonym: "uterine anomalies" EXACT [OMIM:192000] xref: MESH:C562565 {source="MONDO:equivalentTo"} xref: OMIM:192000 {source="MONDO:equivalentTo"} xref: UMLS:C0266383 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:192000"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008636 @@ -160200,7 +160188,7 @@ xref: OMIM:192100 {source="MONDO:equivalentTo"} xref: Orphanet:99771 {source="MONDO:equivalentTo"} xref: SCTID:18910001 {source="MONDO:equivalentTo"} xref: UMLS:C0266122 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:99771", source="OMIM:192100"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0016064 {source="Orphanet:99771"} ! cleft palate property_value: confidence "4.714285714285715" xsd:double @@ -160240,7 +160228,7 @@ name: vascular helix of umbilical cord synonym: "vascular helix of umbilical cord" EXACT [OMIM:192300] xref: OMIM:192300 {source="MONDO:equivalentTo"} xref: UMLS:C1860520 {source="OMIM:192300", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008640 @@ -160253,7 +160241,7 @@ synonym: "vasculitis, lymphocytic, nodular" EXACT [OMIM:192310] xref: MESH:C566008 {source="MONDO:equivalentTo"} xref: OMIM:192310 {source="GARD:0006941", source="MONDO:equivalentTo"} xref: UMLS:C1860519 {source="GARD:0006941", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:192310"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease intersection_of: MONDO:0018882 ! vasculitis intersection_of: disease_has_basis_in_dysfunction_of CL:0000542 ! lymphocyte intersection_of: disease_has_location UBERON:0000014 ! zone of skin @@ -160341,7 +160329,7 @@ name: veins, pattern of, on anterior thorax synonym: "veins, pattern of, on anterior thorax" EXACT [OMIM:192400] xref: OMIM:192400 {source="MONDO:equivalentTo"} xref: UMLS:C1860490 {source="OMIM:192400", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008644 @@ -160455,7 +160443,7 @@ synonym: "venular insufficiency, systemic" EXACT [OMIM:192700] xref: MESH:C566004 {source="MONDO:equivalentTo"} xref: OMIM:192700 {source="MONDO:equivalentTo"} xref: UMLS:C1860465 {source="OMIM:192700", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008650 @@ -160490,7 +160478,7 @@ synonym: "vertebral hypoplasia with lumbar kyphosis" EXACT [OMIM:192900] xref: MESH:C566002 {source="MONDO:equivalentTo"} xref: OMIM:192900 {source="MONDO:equivalentTo"} xref: UMLS:C1860463 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:192900"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008652 @@ -160563,7 +160551,7 @@ xref: OMIM:193005 {source="MONDO:equivalentTo"} xref: Orphanet:1767 {source="OMIM:193005"} xref: UMLS:C1860432 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2931176 {source="OMIM:193005", source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5489/vestibulocochlear-dysfunction-progressive" xsd:anyURI {source="GARD:0005489"} [Term] @@ -160758,7 +160746,7 @@ xref: Orphanet:2454 {source="OMIM:193250"} xref: SCTID:458422009 {source="MONDO:equivalentTo"} xref: UMLS:C0221210 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:193250"} xref: UMLS:C0345255 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:193250"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008667 @@ -161188,7 +161176,6 @@ is_a: MONDO:0016893 {source="Orphanet:893"} ! partial deletion of the short arm is_a: MONDO:0017891 {source="Orphanet:893"} ! inherited renal cancer-predisposing syndrome is_a: MONDO:0020040 ! 46,XY disorder of sex development is_a: MONDO:0020148 {source="Orphanet:893"} ! syndromic aniridia -is_a: MONDO:0021147 ! disorder of development or morphogenesis relationship: disease_has_feature HP:0000526 ! Aniridia relationship: disease_has_feature HP:0001249 ! Intellectual disability relationship: has_characteristic MONDO:0021136 ! rare @@ -161230,7 +161217,6 @@ xref: UMLS:C3151568 {source="MONDO:equivalentTo"} is_a: MONDO:0000426 {source="DOID:3764", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0005151 ! endocrine system disorder is_a: MONDO:0020040 ! 46,XY disorder of sex development -is_a: MONDO:0021147 ! disorder of development or morphogenesis relationship: disease_has_feature HP:0000037 ! Male pseudohermaphroditism relationship: disease_has_feature HP:0001967 ! Diffuse mesangial sclerosis relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:194080"} ! Autosomal dominant inheritance @@ -161344,7 +161330,7 @@ xref: UMLS:C0043202 {source="NCIT:C35132", source="MONDO:ncbi_mim2gene_medline", xref: UMLS:C0264897 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:194200"} xref: UMLS:C0392470 {source="MONDO:notFoundInDiseaseSubset", source="DOID:384"} is_a: MONDO:0000992 {source="DOID:384"} ! heart conduction disease -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9386 {source="MONDO:mim2gene_medgen"} ! PRKAG2 property_value: IAO:0000589 "Wolff-Parkinson-white syndrome (disease)" xsd:string @@ -161389,7 +161375,7 @@ name: Woronets trait synonym: "Woronets trait" EXACT [OMIM:194320] xref: OMIM:194320 {source="MONDO:equivalentTo"} xref: UMLS:C1860237 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:194320"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008688 @@ -162363,8 +162349,6 @@ is_a: MONDO:0005151 ! endocrine system disorder is_a: MONDO:0017969 ! 46,XY disorder of sex development of endocrine origin is_a: MONDO:0018479 {source="Orphanet:90790"} ! congenital adrenal hyperplasia is_a: MONDO:0019852 {source="Orphanet:90790"} ! inherited primary ovarian failure -is_a: MONDO:0021124 {source="MONDO:0018412-obsoleted"} ! female infertility -is_a: MONDO:0021147 ! disorder of development or morphogenesis relationship: has_characteristic MONDO:0021136 ! rare relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11359 {source="MONDO:mim2gene_medgen"} ! STAR property_value: confidence "0.24971428571428578" xsd:double @@ -162417,7 +162401,6 @@ is_a: MONDO:0005151 ! endocrine system disorder is_a: MONDO:0017969 ! 46,XY disorder of sex development of endocrine origin is_a: MONDO:0018479 {source="MESH:C538236", source="MONDO:Redundant", source="Orphanet:90791"} ! congenital adrenal hyperplasia is_a: MONDO:0019593 {source="Orphanet:90791"} ! 46,XX disorder of sex development induced by fetal androgens excess -is_a: MONDO:0021147 ! disorder of development or morphogenesis intersection_of: MONDO:0018479 ! congenital adrenal hyperplasia intersection_of: disease_has_basis_in_disruption_of GO:0102175 ! 3-beta-hydroxysteroid dehydrogenase/C4-decarboxylase activity relationship: has_characteristic MONDO:0021136 ! rare @@ -162525,8 +162508,7 @@ xref: UMLS:C0268285 {source="OMIM:202110", source="MONDO:ncbi_mim2gene_medline", xref: UMLS:C3277849 {source="OMIM:202110", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0005151 ! endocrine system disorder is_a: MONDO:0017969 ! 46,XY disorder of sex development of endocrine origin -is_a: MONDO:0018479 {source="Orphanet:90793"} ! congenital adrenal hyperplasia -is_a: MONDO:0021147 ! disorder of development or morphogenesis +is_a: MONDO:0018479 {source="Orphanet:90793", source="https://orcid.org/0000-0001-5208-3432"} ! congenital adrenal hyperplasia relationship: excluded_subClassOf MONDO:0019852 {source="Orphanet:90793"} ! inherited primary ovarian failure relationship: has_characteristic MONDO:0021136 ! rare relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -162553,8 +162535,6 @@ is_a: MONDO:0005495 {source="MONDO:Entailed", source="Orphanet:95700", source="O is_a: MONDO:0015129 {source="Orphanet:95700", source="Orphanet:95700/inferred"} ! chronic primary adrenal insufficiency is_a: MONDO:0015770 {source="MONDO:0015891-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! congenital hypogonadotropic hypogonadism is_a: MONDO:0020040 ! 46,XY disorder of sex development -is_a: MONDO:0021124 ! female infertility -is_a: MONDO:0021147 ! disorder of development or morphogenesis relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql relationship: has_characteristic MONDO:0021136 {source="MONDO:0015971"} ! rare relationship: has_characteristic MONDO:0021140 ! congenital @@ -162690,7 +162670,7 @@ xref: MESH:C538058 {source="MONDO:equivalentTo"} xref: NCIT:C101074 {source="MONDO:equivalentTo"} xref: OMIM:202550 {source="MONDO:equivalentTo"} xref: UMLS:C0345240 {source="NCIT:C101074", source="OMIM:202550", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: disease_shares_features_of MONDO:0018309 {source="NCIT:C101074"} ! Hirschsprung disease relationship: excluded_subClassOf MONDO:0018309 {source="NCIT:C101074"} ! Hirschsprung disease @@ -162700,7 +162680,7 @@ name: agenesis of cerebral white matter synonym: "agenesis of cerebral white matter" EXACT [OMIM:202600] xref: OMIM:202600 {source="MONDO:equivalentTo"} xref: UMLS:C1859969 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:202600"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008740 @@ -162753,7 +162733,6 @@ is_a: MONDO:0005151 ! endocrine system disorder is_a: MONDO:0015161 {source="Orphanet:991"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015846 {source="Orphanet:991"} ! syndromic uterovaginal malformation is_a: MONDO:0020040 ! 46,XY disorder of sex development -is_a: MONDO:0021147 ! disorder of development or morphogenesis relationship: has_characteristic MONDO:0021136 ! rare property_value: confidence "8.166666666666666" xsd:double @@ -163678,7 +163657,7 @@ xref: OMIM:204700 {source="MONDO:equivalentTo", source="GARD:0009495", source="D xref: Orphanet:100033 {source="OMIM:204700"} xref: UMLS:C1290537 {source="MONDO:notFoundInDiseaseSubset", source="GARD:0009495"} xref: UMLS:C2673922 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:204700"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0015048 {source="Orphanet:100033/btnt"} ! amelogenesis imperfecta type 2 is_a: MONDO:0019507 {source="DOID:0110057", source="MESH:C538242", source="MESH:C567146", source="MONDO:Redundant", source="OMIM:204700"} ! amelogenesis imperfecta intersection_of: MONDO:0019507 ! amelogenesis imperfecta @@ -163806,7 +163785,7 @@ xref: MESH:D001176 {source="MONDO:equivalentTo", source="EFO:0003857"} xref: NCIT:C84572 {source="MONDO:equivalentTo", source="EFO:0003857"} xref: SCTID:111246005 {source="EFO:0003857"} xref: UMLS:C0003886 {source="MONDO:equivalentTo", source="NCIT:C84572"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005395 {source="EFO:0003857"} ! movement disorder [Term] @@ -164070,7 +164049,7 @@ synonym: "Divry-Van Bogaert syndrome" RELATED [OMIM:206570] xref: MESH:C536367 {source="MONDO:equivalentTo"} xref: OMIM:206570 {source="MONDO:equivalentTo"} xref: UMLS:C1859783 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:206570"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8587/angiomatosis-diffuse-corticomeningeal-of-divry-and-van-bogaert" xsd:anyURI {source="GARD:0008587"} [Term] @@ -164080,7 +164059,7 @@ synonym: "anhidrosis, familial generalized, with abnormal or absent sweat glands xref: OMIM:206600 {source="MONDO:equivalentTo"} xref: UMLS:C0003028 {source="OMIM:206600", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C4225670 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0006527 {source="https://orcid.org/0000-0001-5208-3432"} ! anhidrosis property_value: confidence "0.0" xsd:double @@ -164271,7 +164250,7 @@ name: anosmia for isobutyric acid synonym: "anosmia for isobutyric acid" EXACT [OMIM:207000] xref: OMIM:207000 {source="MONDO:equivalentTo"} xref: UMLS:C1859762 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:207000"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008802 @@ -164280,7 +164259,7 @@ synonym: "antithrombin, familial hemorrhagic diathesis due to" EXACT [OMIM:20730 xref: MESH:C565947 {source="MONDO:equivalentTo"} xref: OMIM:207300 {source="MONDO:equivalentTo"} xref: UMLS:C1859761 {source="OMIM:207300", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008803 @@ -164643,7 +164622,7 @@ synonym: "arteriosclerosis, severe juvenile" EXACT [OMIM:208060] xref: MESH:C565941 {source="MONDO:equivalentTo"} xref: OMIM:208060 {source="MONDO:equivalentTo"} xref: UMLS:C1859725 {source="MONDO:equivalentTo", source="OMIM:208060", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008820 @@ -164661,7 +164640,7 @@ synonym: "arthrogryposis, distal, with mental retardation and characteristic fac xref: MESH:C565940 {source="MONDO:equivalentTo"} xref: OMIM:208081 {source="MONDO:equivalentTo"} xref: UMLS:C1859723 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:208081"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008822 @@ -164990,7 +164969,7 @@ xref: OMIM:208550 {source="MONDO:equivalentTo"} xref: UMLS:C1858067 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:208550"} xref: UMLS:C1859648 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:208550"} xref: UMLS:C1876174 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:208550"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008835 @@ -164999,7 +164978,7 @@ synonym: "asthma, short stature, and elevated IgA" EXACT [OMIM:208600] xref: MESH:C565934 {source="MONDO:equivalentTo"} xref: OMIM:208600 {source="MONDO:equivalentTo"} xref: UMLS:C1859647 {source="OMIM:208600", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008836 @@ -165008,7 +164987,7 @@ synonym: "ataxia with myoclonic epilepsy and presenile dementia" EXACT [OMIM:208 xref: MESH:C565933 {source="MONDO:equivalentTo"} xref: OMIM:208700 {source="MONDO:equivalentTo"} xref: UMLS:C1859646 {source="OMIM:208700", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008837 @@ -165017,7 +164996,7 @@ synonym: "ataxia, deafness, and cardiomyopathy" EXACT [OMIM:208750] xref: MESH:C565932 {source="MONDO:equivalentTo"} xref: OMIM:208750 {source="MONDO:equivalentTo"} xref: UMLS:C1859645 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:208750"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008838 @@ -165178,7 +165157,7 @@ synonym: "atonic-astatic syndrome of Foerster" EXACT [OMIM:209100] xref: MESH:C565926 {source="MONDO:equivalentTo"} xref: OMIM:209100 {source="MONDO:equivalentTo"} xref: UMLS:C1859594 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:209100"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008846 @@ -165243,7 +165222,7 @@ xref: MESH:D006327 {source="MONDO:equivalentTo"} xref: OMIM:209600 {source="MONDO:equivalentTo"} xref: SCTID:50799005 {source="MONDO:equivalentTo"} xref: UMLS:C0004331 {source="OMIM:209600", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: IAO:0000589 "atrioventricular dissociation (disease)" xsd:string [Term] @@ -165541,7 +165520,7 @@ synonym: "cerebral aneurysm-cirrhosis syndrome" RELATED [OMIM:210050] xref: MESH:C565905 {source="MONDO:equivalentTo"} xref: OMIM:210050 {source="MONDO:equivalentTo"} xref: UMLS:C1859519 {source="OMIM:210050", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8552/berry-aneurysm-cirrhosis-pulmonary-emphysema-and-cerebral-calcification" xsd:anyURI {source="GARD:0008552"} [Term] @@ -165776,7 +165755,7 @@ xref: MESH:C537726 {source="MONDO:equivalentTo"} xref: OMIM:210550 {source="MONDO:equivalentTo"} xref: SCTID:235914003 {source="MONDO:equivalentTo"} xref: UMLS:C0400972 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:210550"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008869 @@ -166059,7 +166038,6 @@ xref: SCTID:711153001 {source="MONDO:equivalentTo"} xref: UMLS:C1859405 {source="Orphanet:1270/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1270", source="OMIM:211180"} is_a: MONDO:0006025 {source="DOID:0050684", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0015159 {source="Orphanet:1270"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability -is_a: MONDO:0021147 ! disorder of development or morphogenesis relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1270"} ! syndromic intellectual disability relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:211180", source="Orphanet:1270"} ! Autosomal recessive inheritance relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare @@ -166077,7 +166055,7 @@ xref: MESH:C538164 {source="MONDO:equivalentTo"} xref: OMIM:211200 {source="MONDO:equivalentTo"} xref: Orphanet:1271 {source="MONDO:equivalentObsolete", source="OMIM:211200"} xref: UMLS:C1859404 {source="MONDO:equivalentTo", source="OMIM:211200", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008881 @@ -166129,7 +166107,7 @@ synonym: "brachydactyly, type A2, with microcephaly" EXACT [OMIM:211369] xref: MESH:C565894 {source="MONDO:equivalentTo"} xref: OMIM:211369 {source="MONDO:equivalentTo"} xref: UMLS:C1859393 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:211369"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008884 @@ -166565,7 +166543,7 @@ synonym: "camptodactyly-ichthyosis syndrome" EXACT [OMIM:211965] xref: MESH:C537976 {source="MONDO:equivalentTo"} xref: OMIM:211965 {source="MONDO:equivalentTo"} xref: UMLS:C1859355 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:211965"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10134/camptodactyly-ichthyosis-syndrome" xsd:anyURI {source="GARD:0010134"} [Term] @@ -166815,7 +166793,7 @@ synonym: "cardiac septal defects with coarctation of the aorta" EXACT [OMIM:2120 xref: MESH:C565883 {source="MONDO:equivalentTo"} xref: OMIM:212090 {source="MONDO:equivalentTo"} xref: UMLS:C1859331 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:212090"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008913 @@ -166842,7 +166820,7 @@ synonym: "Sanchez Cascos cardioauditory syndrome" RELATED [GARD:0008519] xref: MESH:C535577 {source="MONDO:equivalentTo"} xref: OMIM:212100 {source="MONDO:equivalentTo"} xref: UMLS:C1859329 {source="OMIM:212100", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8519/cardioauditory-syndrome-of-sanchez-cascos" xsd:anyURI {source="GARD:0008519"} [Term] @@ -166884,7 +166862,7 @@ synonym: "cardiomyopathy associated with myopathy and sudden death" EXACT [OMIM: xref: MESH:C565881 {source="MONDO:equivalentTo"} xref: OMIM:212130 {source="MONDO:equivalentTo"} xref: UMLS:C1859328 {source="OMIM:212130", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008917 @@ -166990,7 +166968,7 @@ synonym: "myopathic carnitine deficiency" RELATED [GARD:0006616] xref: MESH:C536100 {source="MONDO:equivalentTo"} xref: OMIM:212160 {source="MONDO:equivalentTo"} xref: UMLS:C1859318 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:212160"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6616/myopathic-carnitine-deficiency" xsd:anyURI {source="GARD:0006616"} [Term] @@ -167251,7 +167229,7 @@ synonym: "premature centromere division" EXACT [MONDO:Lexical, OMIM:212790] synonym: "X-chromosome centromere peculiarity" RELATED [OMIM:212790] xref: OMIM:212790 {source="MONDO:equivalentTo"} xref: UMLS:C1859308 {source="OMIM:212790", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008933 @@ -167313,7 +167291,7 @@ synonym: "cerebellar ataxia and neurosensory deafness" EXACT [OMIM:212850] xref: MESH:C565869 {source="MONDO:equivalentTo"} xref: OMIM:212850 {source="MONDO:equivalentTo"} xref: UMLS:C1859304 {source="MONDO:equivalentTo", source="OMIM:212850", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008937 @@ -167323,7 +167301,7 @@ synonym: "cerebellar ataxia, benign, with thermoanalgesia" EXACT [OMIM:212890] xref: MESH:C565868 {source="MONDO:equivalentTo"} xref: OMIM:212890 {source="MONDO:equivalentTo"} xref: UMLS:C1859303 {source="OMIM:212890", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008938 @@ -167507,7 +167485,7 @@ xref: UMLS:C0007761 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_me xref: UMLS:C1834580 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:159700"} xref: UMLS:C3489626 {source="OMIM:213400", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0000114 {source="DC-OMIM:213400"} ! cerebelloparenchymal disorder -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0024237 {source="MESH:D002527/inferred"} ! inherited neurodegenerative disorder relationship: disease_shares_features_of MONDO:0008945 ! myoclonic cerebellar dyssynergia property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4429" xsd:anyURI @@ -167519,7 +167497,7 @@ synonym: "cerebral angiopathy, dysphoric" EXACT [OMIM:213500] xref: MESH:C565864 {source="MONDO:equivalentTo"} xref: OMIM:213500 {source="MONDO:equivalentTo"} xref: UMLS:C1859283 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:213500"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008947 @@ -167599,7 +167577,7 @@ synonym: "Muller Barth Menger syndrome" RELATED [GARD:0003812] xref: MESH:C537370 {source="MONDO:equivalentTo"} xref: OMIM:213820 {source="MONDO:equivalentTo"} xref: UMLS:C1859259 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:213820"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008950 @@ -167711,7 +167689,7 @@ synonym: "cervical vertebrae, agenesis of" EXACT [OMIM:214290] xref: MESH:C562952 {source="MONDO:equivalentTo"} xref: OMIM:214290 {source="MONDO:equivalentTo"} xref: UMLS:C0432160 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:214290"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008958 @@ -167749,7 +167727,7 @@ xref: Orphanet:1401 {source="OMIM:214350", source="MONDO:equivalentTo", source=" xref: SCTID:239037001 {source="MONDO:equivalentTo"} xref: UMLS:C0406733 {source="OMIM:214350", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:CN199447 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008960 @@ -168067,7 +168045,7 @@ xref: MESH:C535937 {source="MONDO:equivalentTo"} xref: OMIM:215030 {source="MONDO:equivalentTo"} xref: SCTID:233728004 {source="MONDO:equivalentTo"} xref: UMLS:C0549472 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:215030"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8500/cholesterol-pneumonia" xsd:anyURI {source="GARD:0008500"} [Term] @@ -168397,7 +168375,7 @@ synonym: "chromosomal instability with tissue-specific radiosensitivity" EXACT [ xref: MESH:C565848 {source="MONDO:equivalentTo"} xref: OMIM:215510 {source="MONDO:equivalentTo"} xref: UMLS:C1859091 {source="OMIM:215510", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008984 @@ -168435,7 +168413,7 @@ synonym: "circumvallate placenta syndrome" EXACT [OMIM:215550] xref: MESH:C565847 {source="MONDO:equivalentTo"} xref: OMIM:215550 {source="MONDO:equivalentTo"} xref: UMLS:C1859089 {source="OMIM:215550", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0008987 @@ -168946,7 +168924,7 @@ synonym: "convulsive disorder, familial, with prenatal or early onset" EXACT [OM xref: MESH:C565678 {source="MONDO:equivalentTo"} xref: OMIM:217200 {source="MONDO:equivalentTo"} xref: UMLS:C1857575 {source="OMIM:217200", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009014 @@ -169019,7 +168997,7 @@ name: corneal degeneration, band-shaped spheroid synonym: "corneal degeneration, band-shaped spheroid" EXACT [OMIM:217520] xref: OMIM:217520 {source="MONDO:equivalentTo"} xref: UMLS:C1857571 {source="OMIM:217520", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009018 @@ -169158,7 +169136,7 @@ xref: Orphanet:200 {source="OMIM:217990"} xref: SCTID:5102002 {source="MONDO:equivalentTo"} xref: UMLS:C0175754 {source="NCIT:C98905", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:217990"} is_a: MONDO:0002320 {source="NCIT:C98905"} ! congenital nervous system disorder -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009023 @@ -169279,7 +169257,7 @@ name: cramps, familial adolescent synonym: "cramps, familial adolescent" EXACT [OMIM:218050] xref: OMIM:218050 {source="MONDO:equivalentTo"} xref: UMLS:C1857533 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:218050"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009028 @@ -169309,7 +169287,7 @@ synonym: "cranial nerves, congenital paresis of" EXACT [OMIM:218100] xref: MESH:C565673 {source="MONDO:equivalentTo"} xref: OMIM:218100 {source="MONDO:equivalentTo"} xref: UMLS:C1857531 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:218100"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -169320,7 +169298,7 @@ synonym: "cranial nerves, recurrent paresis of" EXACT [OMIM:218200] xref: MESH:C565672 {source="MONDO:equivalentTo"} xref: OMIM:218200 {source="MONDO:equivalentTo"} xref: UMLS:C1857530 {source="OMIM:218200", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009031 @@ -169485,7 +169463,7 @@ synonym: "craniosynostosis with anomalies of the cranial base and digits" EXACT xref: MESH:C565666 {source="MONDO:equivalentTo"} xref: OMIM:218530 {source="MONDO:equivalentTo"} xref: UMLS:C1857493 {source="OMIM:218530", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009038 @@ -169537,7 +169515,7 @@ synonym: "Lin-Gettig syndrome" RELATED [GARD:0010282] xref: MESH:C565664 {source="MONDO:equivalentTo"} xref: OMIM:218649 {source="MONDO:equivalentTo"} xref: UMLS:C1857473 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:218649"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009041 @@ -169556,7 +169534,7 @@ xref: MESH:C565663 {source="MONDO:equivalentTo"} xref: OMIM:218650 {source="MONDO:equivalentTo", source="GARD:0000817"} xref: UMLS:C1857472 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:218650"} xref: UMLS:C2931663 {source="MONDO:equivalentTo", source="GARD:0000817"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: excluded_subClassOf MONDO:0000508 {source="https://github.com/monarch-initiative/mondo/issues/926"} ! syndromic intellectual disability relationship: excluded_subClassOf MONDO:0001071 {source="MESH:C537906", source="MONDO:Redundant"} ! intellectual disability relationship: excluded_subClassOf MONDO:0001476 {source="MESH:C537906"} ! coloboma @@ -169713,7 +169691,7 @@ xref: SCTID:367721002 {source="DOID:11383"} xref: SCTID:37501009 {source="DOID:11383"} xref: UMLS:C0010417 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="DOID:11383", source="OMIM:219050", source="NCIT:C12326"} is_a: MONDO:0003150 {source="MESH:D003456/inferred", source="MONDO:Redundant", source="NCIT:C12326/inferred"} ! male reproductive system disorder -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: disease_has_location UBERON:0000079 {source="EFO:0000784"} ! male reproductive system property_value: IAO:0000589 "cryptorchidism (disease)" xsd:string @@ -169724,7 +169702,7 @@ synonym: "claw-like fingers and toes" RELATED [OMIM:219070] synonym: "curved nail of fourth toe" EXACT [OMIM:219070] xref: OMIM:219070 {source="MONDO:equivalentTo"} xref: UMLS:C1857452 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:219070"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009049 @@ -169932,7 +169910,7 @@ synonym: "CVG/MR" RELATED DEPRECATED [MONDO:Lexical, OMIM:219300] xref: OMIM:219300 {source="MONDO:equivalentTo"} xref: Orphanet:1557 {source="OMIM:219300", source="MONDO:equivalentObsolete"} xref: UMLS:C1857444 {source="OMIM:219300", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009057 @@ -169941,7 +169919,7 @@ synonym: "cyanosis and hepatic disease" EXACT [OMIM:219400] xref: MESH:C565660 {source="MONDO:equivalentTo"} xref: OMIM:219400 {source="MONDO:equivalentTo"} xref: UMLS:C1857443 {source="OMIM:219400", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009058 @@ -169988,7 +169966,7 @@ synonym: "cystic disease of lung" EXACT [OMIM:219600] xref: MESH:C563237 {source="MONDO:equivalentTo"} xref: OMIM:219600 {source="MONDO:equivalentTo"} xref: UMLS:C1384901 {source="OMIM:219600", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009061 @@ -170434,7 +170412,7 @@ synonym: "deafness, congenital, and familial myoclonic epilepsy" EXACT [OMIM:220 xref: MESH:C565649 {source="MONDO:equivalentTo"} xref: OMIM:220300 {source="MONDO:equivalentTo"} xref: UMLS:C1857348 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:220300"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -170626,7 +170604,7 @@ synonym: "deafness, neural, congenital moderate" EXACT [OMIM:221500] xref: MESH:C565640 {source="MONDO:equivalentTo"} xref: OMIM:221500 {source="MONDO:equivalentTo"} xref: UMLS:C1857337 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:221500"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: disease_has_major_feature HP:0000365 ! Hearing impairment [Term] @@ -170830,7 +170808,7 @@ synonym: "dextrocardia, microphthalmia, cleft palate, choreoathetosis and mental xref: MESH:C538269 {source="MONDO:equivalentTo"} xref: OMIM:221950 {source="MONDO:equivalentTo"} xref: UMLS:C1857298 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:221950"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/136/dextrocardia-with-unusual-facies-and-microphthalmia" xsd:anyURI {source="GARD:0000136"} [Term] @@ -171323,7 +171301,7 @@ xref: MESH:C565621 {source="MONDO:equivalentTo"} xref: OMIM:223300 {source="MONDO:equivalentTo"} xref: Orphanet:802 {source="OMIM:223300"} xref: UMLS:C1857229 {source="MONDO:equivalentTo", source="OMIM:223300", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_characteristic MONDO:0022202 ! disseminated [Term] @@ -171383,7 +171361,7 @@ synonym: "Dohle bodies and leukemia" EXACT [OMIM:223350] xref: MESH:C565617 {source="MONDO:equivalentTo"} xref: OMIM:223350 {source="MONDO:equivalentTo"} xref: UMLS:C1857225 {source="OMIM:223350", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009123 @@ -171603,7 +171581,7 @@ synonym: "dysautonomia-like disorder" EXACT [OMIM:224000] xref: MESH:C535728 {source="MONDO:equivalentTo"} xref: OMIM:224000 {source="MONDO:equivalentTo"} xref: UMLS:C1857153 {source="OMIM:224000", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9475/dysautonomia-like-disorder" xsd:anyURI {source="GARD:0009475"} [Term] @@ -171842,7 +171820,7 @@ synonym: "dystonia with Ringbinden" EXACT [OMIM:224550] xref: MESH:C565608 {source="MONDO:equivalentTo"} xref: OMIM:224550 {source="MONDO:equivalentTo"} xref: UMLS:C1857089 {source="OMIM:224550", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009143 @@ -172346,7 +172324,7 @@ synonym: "encephalomalacia, multilocular" EXACT [OMIM:225700] xref: MESH:C565597 {source="MONDO:equivalentTo"} xref: OMIM:225700 {source="MONDO:equivalentTo"} xref: UMLS:C1856991 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:225700"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009164 @@ -172356,7 +172334,7 @@ synonym: "Lyon syndrome" RELATED [OMIM:225740] xref: MESH:C565596 {source="MONDO:equivalentTo"} xref: OMIM:225740 {source="MONDO:equivalentTo"} xref: UMLS:C1856990 {source="OMIM:225740", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0100198 {source="https://orcid.org/0000-0001-5208-3432"} ! Mendelian encephalopathy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5671" xsd:anyURI @@ -172501,7 +172479,7 @@ synonym: "endocardial fibroelastosis and coarctation of abdominal aorta" EXACT [ xref: MESH:C565592 {source="MONDO:equivalentTo"} xref: OMIM:226100 {source="MONDO:equivalentTo"} xref: UMLS:C1856971 {source="OMIM:226100", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009171 @@ -172526,7 +172504,7 @@ xref: NCIT:C79573 {source="MONDO:equivalentTo"} xref: OMIM:226150 {source="MONDO:equivalentTo"} xref: SCTID:43752006 {source="MONDO:equivalentTo"} xref: UMLS:C0014356 {source="NCIT:C79573", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:226150"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: IAO:0000589 "enterocolitis (disease)" xsd:string [Term] @@ -172571,7 +172549,7 @@ xref: Orphanet:566175 {source="MONDO:equivalentTo"} xref: SCTID:22542007 {source="DOID:10611", source="MONDO:equivalentTo"} xref: SCTID:66972006 {source="DOID:10611"} xref: UMLS:C0033680 {source="DOID:10611", source="OMIM:226300", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005020 {source="DOID:10611", source="MESH:D011504"} ! intestinal disorder relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2665 {source="MONDO:mim2gene_medgen"} ! CD55 property_value: IAO:0000589 "protein-losing enteropathy (disease)" xsd:string @@ -172883,7 +172861,7 @@ synonym: "epilepsy, photogenic, with spastic diplegia and mental retardation" EX xref: MESH:C565587 {source="MONDO:equivalentTo"} xref: OMIM:226800 {source="MONDO:equivalentTo"} xref: UMLS:C1856931 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:226800"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009187 @@ -173039,7 +173017,7 @@ synonym: "epithelial squamous dysplasia, keratinizing desquamative, of urinary t xref: MESH:C565584 {source="MONDO:equivalentTo"} xref: OMIM:226985 {source="MONDO:equivalentTo"} xref: UMLS:C1856902 {source="MONDO:equivalentTo", source="OMIM:226985", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009194 @@ -173083,7 +173061,7 @@ name: erythema of acral regions synonym: "erythema of acral regions" EXACT [OMIM:227000] xref: OMIM:227000 {source="MONDO:equivalentTo"} xref: UMLS:C1856900 {source="OMIM:227000", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009196 @@ -173190,7 +173168,7 @@ synonym: "facial abnormalities, kyphoscoliosis, and mental retardation" EXACT DE xref: MESH:C565580 {source="MONDO:equivalentTo"} xref: OMIM:227250 {source="MONDO:equivalentTo"} xref: UMLS:C1856893 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:227250"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009202 @@ -173329,7 +173307,7 @@ xref: MESH:C536387 {source="MONDO:equivalentTo"} xref: OMIM:227320 {source="MONDO:equivalentTo"} xref: UMLS:C1856881 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2931184 {source="OMIM:227320", source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009209 @@ -173600,7 +173578,7 @@ xref: OMIM:227850 {source="DOID:0090066", source="MONDO:equivalentTo"} xref: SCTID:236469003 {source="MONDO:equivalentTo"} xref: UMLS:C0151638 {source="OMIM:227850", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0002254 {source="DOID:0090066"} ! syndromic disease -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009218 @@ -173780,7 +173758,7 @@ synonym: "fever, familial lifelong persistent" EXACT [OMIM:228400] xref: MESH:C565569 {source="MONDO:equivalentTo"} xref: OMIM:228400 {source="MONDO:equivalentTo"} xref: UMLS:C1856788 {source="OMIM:228400", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009226 @@ -173864,7 +173842,7 @@ xref: OMIM:228600 {source="MONDO:equivalentTo"} xref: Orphanet:2028 {source="OMIM:228600"} xref: Orphanet:498474 {source="MONDO:equivalentTo"} xref: UMLS:C2745948 {source="OMIM:228600", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0019707 {source="Orphanet:498474"} ! primary osteolysis relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21732 {source="MONDO:mim2gene_medgen"} ! ANTXR2 @@ -173882,7 +173860,7 @@ xref: OMIM:228800 {source="MONDO:equivalentTo"} xref: Orphanet:49041 {source="OMIM:228800"} xref: SCTID:111210001 {source="MONDO:equivalentTo"} xref: UMLS:C0494949 {source="OMIM:228800", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0018848 {source="MESH:C537375", source="Orphanet:49041/btnt"} ! IgG4-related retroperitoneal fibrosis property_value: confidence "28.000000000000053" xsd:double @@ -174053,7 +174031,7 @@ xref: OMIM:229045 {source="MONDO:equivalentTo", source="DOID:5362"} xref: SCTID:36949004 {source="DOID:5362"} xref: SCTID:6121001 {source="MONDO:equivalentTo", source="DOID:5362"} xref: UMLS:C0206067 {source="NCIT:C97083", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:5362", source="OMIM:229045"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005043 {source="NCIT:C97083"} ! hyperplasia is_a: MONDO:0005108 {source="DOID:5362", source="EFO:0007275", source="MONDO:Redundant"} ! viral infectious disease relationship: disease_has_infectious_agent NCBITaxon:173087 ! Human papillomavirus types @@ -174214,7 +174192,7 @@ xref: OMIM:229230 {source="MONDO:equivalentTo"} xref: Orphanet:2051 {source="MONDO:equivalentObsolete", source="OMIM:229230"} xref: UMLS:C1856708 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:229230"} xref: UMLS:CN200837 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009244 @@ -174222,7 +174200,7 @@ name: Freesia Flowers, inability to smell synonym: "Freesia Flowers, inability to smell" EXACT [OMIM:229250] xref: OMIM:229250 {source="MONDO:equivalentTo"} xref: UMLS:C1856707 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:229250"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009245 @@ -174500,7 +174478,7 @@ xref: OMIM:230300 {source="MONDO:equivalentTo"} xref: SCTID:78622004 {source="MONDO:equivalentTo"} xref: UMLS:C0235660 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3665358 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:230300"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: IAO:0000589 "galactorrhea (disease)" xsd:string [Term] @@ -174930,8 +174908,6 @@ xref: Orphanet:2075 {source="OMIM:231060", source="MONDO:equivalentTo"} xref: UMLS:C1856466 {source="OMIM:231060", source="Orphanet:2075/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2075"} is_a: MONDO:0005151 ! endocrine system disorder is_a: MONDO:0015161 {source="Orphanet:2075"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability -is_a: MONDO:0020040 ! 46,XY disorder of sex development -is_a: MONDO:0021147 ! disorder of development or morphogenesis relationship: has_characteristic MONDO:0021136 ! rare property_value: confidence "7.125" xsd:double property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2460/genito-palato-cardiac-syndrome" xsd:anyURI {source="GARD:0002460"} @@ -175425,7 +175401,7 @@ synonym: "gluteal muscles, absence of" EXACT [OMIM:231970] xref: MESH:C535561 {source="MONDO:equivalentTo"} xref: OMIM:231970 {source="GARD:0008518", source="MONDO:equivalentTo"} xref: UMLS:C1856398 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:231970"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8518/absence-of-gluteal-muscle" xsd:anyURI {source="GARD:0008518"} [Term] @@ -175944,7 +175920,7 @@ synonym: "Growth retardation, ocular abnormalities, microcephaly, brachydactyly, xref: MESH:C537284 {source="MONDO:equivalentTo"} xref: OMIM:233270 {source="MONDO:equivalentTo"} xref: UMLS:C1856274 {source="OMIM:233270", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009299 @@ -176098,7 +176074,7 @@ xref: DOID:0111974 {source="MONDO:equivalentTo"} xref: MESH:C565535 {source="MONDO:equivalentTo"} xref: OMIM:233600 {source="MONDO:equivalentTo"} xref: UMLS:C1856263 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:233600"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -176460,7 +176436,7 @@ xref: MESH:C562477 {source="MONDO:equivalentTo"} xref: OMIM:234350 {source="MONDO:equivalentTo"} xref: SCTID:235873001 {source="MONDO:equivalentTo"} xref: UMLS:C0241913 {source="OMIM:234350", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009324 @@ -176545,7 +176521,7 @@ synonym: "heart, malformation of" EXACT [OMIM:140500, OMIM:234750] xref: OMIM:140500 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: OMIM:234750 {source="MONDO:equivalentTo"} xref: UMLS:C0018798 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:234750", source="OMIM:140500"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0019512 ! congenital heart malformation property_value: confidence "34.99999999999996" xsd:double @@ -176556,7 +176532,7 @@ synonym: "hemangiomatosis, cutaneous, with associated features" EXACT [OMIM:2348 xref: MESH:C562438 {source="MONDO:equivalentTo"} xref: OMIM:234800 {source="MONDO:equivalentTo"} xref: UMLS:C0220738 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:234800"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009329 @@ -176880,7 +176856,7 @@ xref: MESH:C538120 {source="MONDO:equivalentTo"} xref: MESH:C565517 {source="MONDO:equivalentTo"} xref: OMIM:235750 {source="GARD:0002696", source="MONDO:equivalentTo"} xref: UMLS:C1856111 {source="OMIM:235750", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2696/hirschsprung-disease-polydactyly-heart-disease" xsd:anyURI {source="GARD:0002696"} [Term] @@ -177172,7 +177148,7 @@ synonym: "Hooft disease" EXACT [OMIM:236300] xref: MESH:C535329 {source="MONDO:equivalentTo"} xref: OMIM:236300 {source="MONDO:equivalentTo"} xref: UMLS:C0268479 {source="OMIM:236300", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9702/hooft-disease" xsd:anyURI {source="GARD:0009702"} [Term] @@ -177212,7 +177188,7 @@ synonym: "Hutterite cerebroosteonephrodysplasia syndrome" EXACT [OMIM:236450] xref: MESH:C536074 {source="MONDO:equivalentTo"} xref: OMIM:236450 {source="MONDO:equivalentTo"} xref: UMLS:C1856054 {source="OMIM:236450", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9956/hutterite-cerebroosteonephrodysplasia-syndrome" xsd:anyURI {source="GARD:0009956"} [Term] @@ -177581,7 +177557,7 @@ xref: MESH:C562397 {source="MONDO:equivalentTo"} xref: OMIM:237100 {source="MONDO:equivalentTo"} xref: SCTID:65937002 {source="MONDO:equivalentTo"} xref: UMLS:C0152436 {source="OMIM:237100", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009376 @@ -177824,7 +177800,7 @@ xref: MESH:C565500 {source="MONDO:equivalentTo"} xref: OMIM:238350 {source="MONDO:equivalentTo"} xref: UMLS:C1855928 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:238350"} is_a: MONDO:0001697 {source="https://www.nichd.nih.gov/health/topics/reading/conditioninfo/disorders"} ! reading disorder -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4484" xsd:anyURI [Term] @@ -177942,7 +177918,7 @@ xref: ICD9:270.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:238750 {source="MONDO:equivalentTo"} xref: SCTID:342553006 {source="MONDO:equivalentTo"} xref: UMLS:C0268555 {source="OMIM:238750", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009391 @@ -177952,7 +177928,7 @@ synonym: "hypermetabolism due to uncoupled mitochondrial oxidative phosphorylati xref: MESH:C565498 {source="MONDO:equivalentTo"} xref: OMIM:238800 {source="MONDO:equivalentTo"} xref: UMLS:C1855926 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:238800"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009392 @@ -178078,7 +178054,7 @@ synonym: "hyperparathyroidism, neonatal self-limited primary, with hypercalciuri xref: MESH:C565496 {source="MONDO:equivalentTo"} xref: OMIM:239199 {source="MONDO:equivalentTo"} xref: UMLS:C1855924 {source="OMIM:239199", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009397 @@ -178141,7 +178117,7 @@ synonym: "hyperphosphatemia, polyuria, and seizures" EXACT [OMIM:239350] xref: MESH:C565494 {source="MONDO:equivalentTo"} xref: OMIM:239350 {source="MONDO:equivalentTo"} xref: UMLS:C1855922 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:239350"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009400 @@ -178241,7 +178217,7 @@ synonym: "hypertelorism and tetralogy of fallot" EXACT [OMIM:239711] xref: MESH:C538386 {source="MONDO:equivalentTo"} xref: OMIM:239711 {source="MONDO:equivalentTo"} xref: UMLS:C1855903 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:239711"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2848/hypertelorism-and-tetralogy-of-fallot" xsd:anyURI {source="GARD:0002848"} [Term] @@ -178330,7 +178306,7 @@ synonym: "hypertrophic neuropathy and cataract" EXACT [OMIM:239900] xref: MESH:C565490 {source="MONDO:equivalentTo"} xref: OMIM:239900 {source="MONDO:equivalentTo"} xref: UMLS:C1855885 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:239900"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009408 @@ -178532,7 +178508,7 @@ xref: MESH:C537150 {source="MONDO:equivalentTo"} xref: OMIM:240800 {source="MONDO:equivalentTo"} xref: SCTID:62151007 {source="MONDO:equivalentTo"} xref: UMLS:C0271714 {source="OMIM:240800", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/59 {source="MONDO:mim2gene_medgen"} ! ABCC8 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -178580,7 +178556,7 @@ synonym: "hypogonadism with low-grade mental deficiency and microcephaly" EXACT xref: MESH:C565482 {source="MONDO:equivalentTo"} xref: OMIM:241000 {source="MONDO:equivalentTo"} xref: UMLS:C1855858 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:241000"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009419 @@ -178633,7 +178609,7 @@ xref: Orphanet:2232 {source="MONDO:equivalentTo", source="OMIM:241090"} xref: SCTID:719275009 {source="MONDO:equivalentTo"} xref: UMLS:C2673480 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:241090"} xref: UMLS:C2931374 {source="Orphanet:2232", source="Orphanet:2232/e", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0002254 {source="https://orcid.org/0000-0003-1967-3726"} ! syndromic disease +is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015906"} ! rare property_value: confidence "2.692307692307692" xsd:double @@ -178649,7 +178625,7 @@ xref: SCTID:48723006 {source="MONDO:equivalentTo"} xref: UMLS:C0151721 {source="OMIM:307300", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:241100"} xref: UMLS:C2673479 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:241100"} is_a: MONDO:0002146 {source="DC-OMIM:241100", source="OMIM:307300"} ! hypogonadism -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009422 @@ -178659,7 +178635,7 @@ synonym: "sweat gland hypoplasia" RELATED [OMIM:241120] xref: MESH:C565481 {source="MONDO:equivalentTo"} xref: OMIM:241120 {source="MONDO:equivalentTo"} xref: UMLS:C1855856 {source="MONDO:equivalentTo", source="OMIM:241120", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009423 @@ -178901,7 +178877,7 @@ synonym: "hypopituitarism, congenital, with central diabetes insipidus" EXACT [O xref: MESH:C565477 {source="MONDO:equivalentTo"} xref: OMIM:241540 {source="MONDO:equivalentTo"} xref: UMLS:C1855800 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:241540"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -179368,7 +179344,7 @@ synonym: "immune deficiency disease" EXACT [OMIM:242850] xref: MESH:C565469 {source="MONDO:equivalentTo"} xref: OMIM:242850 {source="MONDO:equivalentTo"} xref: UMLS:C1855771 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:242850"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-5208-3432"} ! immune system disorder relationship: excluded_subClassOf MONDO:0003778 {source="DC-OMIM:242850", source="MESH:C565469"} ! inborn error of immunity @@ -179406,7 +179382,7 @@ synonym: "immunodeficiency, partial combined, with absence of HLA Determinants a xref: MESH:C565468 {source="MONDO:equivalentTo"} xref: OMIM:242870 {source="MONDO:equivalentTo"} xref: UMLS:C1855762 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:242870"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009456 @@ -179424,7 +179400,7 @@ name: immunoglobulin d level in plasma, low synonym: "IMMUNOGLOBULIN D level in plasma, LOW" RELATED [OMIM:242890] xref: OMIM:242890 {source="MONDO:equivalentTo"} xref: UMLS:C1855761 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:242890"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009458 @@ -179535,7 +179511,7 @@ synonym: "inosine phosphorylase deficiency, immune defect due to" EXACT [OMIM:24 xref: MESH:C565465 {source="MONDO:equivalentTo"} xref: OMIM:243080 {source="MONDO:equivalentTo"} xref: UMLS:C1855737 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:243080"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009463 @@ -179543,7 +179519,7 @@ name: internal carotid arteries, hypoplasia of synonym: "internal carotid arteries, hypoplasia of" EXACT [OMIM:243100] xref: OMIM:243100 {source="MONDO:equivalentTo"} xref: UMLS:C1855736 {source="OMIM:243100", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009464 @@ -179554,7 +179530,7 @@ synonym: "Interleukin 1, defective T-cell response to" RELATED [OMIM:243110] xref: OMIM:243110 {source="MONDO:equivalentTo"} xref: UMLS:C1855735 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:243110"} is_a: MONDO:0003778 {source="DC-OMIM:243110"} ! inborn error of immunity -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009465 @@ -179744,7 +179720,7 @@ xref: UMLS:C1827377 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoun xref: UMLS:C2673468 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:243400"} xref: UMLS:C2673469 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:243400"} xref: UMLS:C2673470 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:243400"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7646 {source="MONDO:mim2gene_medgen"} ! NAT2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -179778,7 +179754,7 @@ name: isovaleric acid, inability to smell synonym: "isovaleric acid, inability to smell" EXACT [OMIM:243450] xref: OMIM:243450 {source="MONDO:equivalentTo"} xref: UMLS:C1855714 {source="OMIM:243450", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009475 @@ -180007,7 +179983,7 @@ synonym: "exaggerated startle reflex" RELATED [GARD:0006803] synonym: "Jumping Frenchmen of Maine" EXACT [OMIM:244100] xref: OMIM:244100 {source="MONDO:equivalentTo"} xref: UMLS:C1280764 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:244100"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009482 @@ -180148,7 +180124,7 @@ synonym: "keratoconus and congenital hip dysplasia" EXACT [OMIM:244510] xref: MESH:C565456 {source="MONDO:equivalentTo"} xref: OMIM:244510 {source="MONDO:equivalentTo"} xref: UMLS:C1855647 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:244510"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -180164,7 +180140,7 @@ xref: MESH:C536151 {source="MONDO:equivalentTo"} xref: OMIM:244600 {source="MONDO:equivalentTo"} xref: UMLS:C1855645 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:244600"} xref: UMLS:C1855646 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:244600"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3091/keratoconus-posticus-circumscriptus" xsd:anyURI {source="GARD:0003091"} [Term] @@ -180352,7 +180328,7 @@ synonym: "burton syndrome" RELATED [OMIM:245160] synonym: "Kniest-like dysplasia with pursed lips and ectopia lentis" EXACT [OMIM:245160] xref: OMIM:245160 {source="MONDO:equivalentTo"} xref: UMLS:C1855606 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:245160"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009497 @@ -180366,7 +180342,7 @@ synonym: "Vitsala" RELATED [GARD:0008420] xref: MESH:C537708 {source="MONDO:equivalentTo"} xref: OMIM:245180 {source="MONDO:equivalentTo"} xref: UMLS:C0796010 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:245180"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8420/kifafa-seizure-disorder" xsd:anyURI {source="GARD:0008420"} [Term] @@ -181069,7 +181045,7 @@ xref: OMIM:246570 {source="MONDO:equivalentTo"} xref: Orphanet:480773 {source="MONDO:equivalentObsolete"} xref: UMLS:C1855499 {source="OMIM:246570", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:CN776928 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0018234 ! dysostosis is_a: MONDO:0019054 ! congenital limb malformation is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect @@ -181317,7 +181293,7 @@ synonym: "lymphoid system deterioration, progressive" EXACT [OMIM:247630] xref: MESH:C565430 {source="MONDO:equivalentTo"} xref: OMIM:247630 {source="MONDO:equivalentTo"} xref: UMLS:C1855473 {source="OMIM:247630", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009539 @@ -181352,7 +181328,7 @@ synonym: "lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune he xref: MESH:C565427 {source="MONDO:equivalentTo"} xref: OMIM:247800 {source="MONDO:equivalentTo"} xref: UMLS:C1855470 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:247800"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009542 @@ -181413,7 +181389,7 @@ xref: MESH:C537721 {source="MONDO:equivalentTo"} xref: OMIM:248010 {source="MONDO:equivalentTo"} xref: UMLS:C1855469 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2931597 {source="OMIM:248010", source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/173/macroepiphyseal-dysplasia-with-osteoporosis-wrinkled-skin-and-aged-appearance" xsd:anyURI {source="GARD:0000173"} [Term] @@ -181423,7 +181399,7 @@ synonym: "macrosomia adiposa congenita" EXACT [OMIM:248100] xref: MESH:C565425 {source="MONDO:equivalentTo"} xref: OMIM:248100 {source="MONDO:equivalentTo"} xref: UMLS:C1855468 {source="OMIM:248100", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009547 @@ -181554,7 +181530,7 @@ name: magnesium, elevated red cell synonym: "magnesium, elevated red cell" EXACT [OMIM:248260] xref: OMIM:248260 {source="MONDO:equivalentTo"} xref: UMLS:C1855464 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:248260"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009552 @@ -181627,7 +181603,7 @@ synonym: "malocclusion and short stature" EXACT [OMIM:248350] xref: MESH:C565421 {source="MONDO:equivalentTo"} xref: OMIM:248350 {source="MONDO:equivalentTo"} xref: UMLS:C1855453 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:248350"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009556 @@ -181719,7 +181695,7 @@ synonym: "mandibulofacial dysostosis with mental retardation" RELATED DEPRECATED xref: MESH:C565420 {source="MONDO:equivalentTo"} xref: OMIM:248400 {source="MONDO:equivalentTo"} xref: UMLS:C1855432 {source="OMIM:248400", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009560 @@ -182117,7 +182093,7 @@ synonym: "megaepiphyseal dwarfism" EXACT [OMIM:249230] xref: MESH:C536140 {source="MONDO:equivalentTo"} xref: OMIM:249230 {source="MONDO:equivalentTo"} xref: UMLS:C1855310 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:249230"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3444/megaepiphyseal-dwarfism" xsd:anyURI {source="GARD:0003444"} [Term] @@ -182435,7 +182411,7 @@ synonym: "mesangial sclerosis, diffuse renal, with ocular abnormalities" EXACT [ xref: MESH:C565405 {source="MONDO:equivalentTo"} xref: OMIM:249660 {source="MONDO:equivalentTo"} xref: UMLS:C1855282 {source="OMIM:249660", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009587 @@ -182445,7 +182421,7 @@ synonym: "Mexican Cardiomelic dysplasia" RELATED [OMIM:249670] xref: MESH:C563087 {source="MONDO:equivalentTo"} xref: OMIM:249670 {source="MONDO:equivalentTo"} xref: UMLS:C0796057 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:249670"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009588 @@ -183218,7 +183194,6 @@ xref: SCTID:719380003 {source="MONDO:equivalentTo"} xref: UMLS:C0796061 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2515", source="Orphanet:2515/e"} xref: UMLS:C1855080 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:251220", source="Orphanet:2515", source="Orphanet:2515/e"} is_a: MONDO:0015159 {source="Orphanet:2515"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability -is_a: MONDO:0021147 ! disorder of development or morphogenesis relationship: disease_has_major_feature HP:0001644 {source="Orphanet:2515"} ! Dilated cardiomyopathy relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2515"} ! syndromic intellectual disability relationship: excluded_subClassOf MONDO:0016337 {source="Orphanet:2515"} ! obsolete syndrome associated with dilated cardiomyopathy @@ -183279,7 +183254,6 @@ xref: Orphanet:2522 {source="MONDO:equivalentTo", source="OMIM:251250"} xref: SCTID:715462003 {source="MONDO:equivalentTo"} xref: UMLS:C0796066 {source="Orphanet:2522", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:251250", source="Orphanet:2522/e"} is_a: MONDO:0015159 {source="Orphanet:2522"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability -is_a: MONDO:0021147 ! disorder of development or morphogenesis relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2522"} ! syndromic intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare property_value: confidence "7.125" xsd:double @@ -183301,7 +183275,6 @@ xref: Orphanet:313795 {source="MONDO:equivalentTo", source="OMIM:251255"} xref: UMLS:C0796063 {source="Orphanet:313795", source="MONDO:equivalentTo", source="OMIM:251255"} xref: UMLS:C2673414 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0015159 {source="Orphanet:313795"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability -is_a: MONDO:0021147 ! disorder of development or morphogenesis relationship: has_characteristic MONDO:0021136 ! rare relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9891 {source="MONDO:mim2gene_medgen"} ! RBBP8 property_value: confidence "8.375" xsd:double @@ -183559,7 +183532,7 @@ synonym: "microphthalmia with hyperopia, retinal degeneration, macrophakia, and xref: MESH:C566884 {source="MONDO:equivalentTo"} xref: OMIM:251700 {source="MONDO:equivalentTo"} xref: UMLS:C1968637 {source="OMIM:251700", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009633 @@ -183570,7 +183543,7 @@ xref: OMIM:251750 {source="MONDO:equivalentTo"} xref: Orphanet:238763 {source="OMIM:251750"} xref: UMLS:C1562061 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3538951 {source="MONDO:equivalentTo", source="OMIM:251750"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0100236 {source="https://clinicalgenome.org/affiliation/40077/"} ! LTBP2-related ocular dysgenesis relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6715 {source="MONDO:mim2gene_medgen"} ! LTBP2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5787" xsd:anyURI @@ -183590,7 +183563,7 @@ xref: OMIM:251800 {source="MONDO:equivalentTo", source="GARD:0000357", source="G xref: UMLS:C1855050 {source="GARD:0000357", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2931502 {source="OMIM:251800", source="MONDO:equivalentTo", source="GARD:0003657"} is_a: MONDO:0002254 ! syndromic disease -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009635 @@ -184346,7 +184319,7 @@ synonym: "mucus inspissation of respiratory tract" EXACT [OMIM:253240] xref: MESH:C565366 {source="MONDO:equivalentTo"} xref: OMIM:253240 {source="MONDO:equivalentTo"} xref: UMLS:C1854729 {source="OMIM:253240", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009664 @@ -184971,7 +184944,7 @@ synonym: "muscular hypertonia, lethal" EXACT [OMIM:254120] xref: MESH:C564982 {source="MONDO:equivalentTo"} xref: OMIM:254120 {source="MONDO:equivalentTo"} xref: UMLS:C1850827 {source="OMIM:254120", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009685 @@ -185007,7 +184980,7 @@ synonym: "musk, inability to smell" EXACT [OMIM:254150] xref: MESH:C564980 {source="MONDO:equivalentTo"} xref: OMIM:254150 {source="MONDO:equivalentTo"} xref: UMLS:C1850807 {source="OMIM:254150", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009687 @@ -185512,7 +185485,7 @@ synonym: "myopathy, granulovacuolar lobular, with electrical myotonia" EXACT [OM xref: MESH:C564974 {source="MONDO:equivalentTo"} xref: OMIM:254950 {source="MONDO:equivalentTo"} xref: UMLS:C1850745 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:254950"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009702 @@ -185653,7 +185626,7 @@ synonym: "myopathy with giant abnormal mitochondria" EXACT [OMIM:255140] xref: MESH:C564971 {source="MONDO:equivalentTo"} xref: OMIM:255140 {source="MONDO:equivalentTo"} xref: UMLS:C1850717 {source="OMIM:255140", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009708 @@ -185789,7 +185762,7 @@ xref: MESH:C567606 {source="MONDO:equivalentTo"} xref: OMIM:255500 {source="MONDO:equivalentTo"} xref: UMLS:C2749509 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:255500"} is_a: MONDO:0001384 {source="DC-OMIM:255500", source="MESH:C567606", source="OMIM:255500"} ! myopia -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009714 @@ -186649,7 +186622,7 @@ synonym: "neurologic disease, infantile multisystem, with osseous fragility" EXA xref: MESH:C564954 {source="MONDO:equivalentTo"} xref: OMIM:256720 {source="MONDO:equivalentTo"} xref: UMLS:C1850465 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:256720"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009744 @@ -186889,7 +186862,7 @@ synonym: "neuropathy, painful" EXACT [OMIM:256870] xref: MESH:C564945 {source="MONDO:equivalentTo"} xref: OMIM:256870 {source="MONDO:equivalentTo"} xref: UMLS:C1850383 {source="OMIM:256870", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009753 @@ -186936,7 +186909,7 @@ xref: NCIT:C3694 {source="MONDO:equivalentTo"} xref: OMIM:257150 {source="MONDO:equivalentTo"} xref: Orphanet:625 {source="MONDO:equivalentObsolete"} xref: UMLS:C1850380 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:257150"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005073 {source="NCIT:C3694"} ! melanocytic nevus is_a: MONDO:0021583 {source="NCIT:C3694"} ! melanocytic skin neoplasm @@ -187138,7 +187111,7 @@ xref: MESH:D010845 {source="MONDO:equivalentTo"} xref: OMIM:257500 {source="MONDO:equivalentTo"} xref: SCTID:190966007 {source="MONDO:equivalentTo"} xref: UMLS:C0031880 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:257500"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009764 @@ -187175,7 +187148,7 @@ synonym: "ocular myopathy with curare sensitivity" EXACT [OMIM:257600] xref: MESH:C564937 {source="MONDO:equivalentTo"} xref: OMIM:257600 {source="MONDO:equivalentTo"} xref: UMLS:C1850341 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:257600"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009766 @@ -187188,7 +187161,7 @@ xref: Orphanet:2720 {source="OMIM:257790", source="MONDO:equivalentTo"} xref: SCTID:716174001 {source="MONDO:equivalentTo"} xref: UMLS:C1850340 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2931646 {source="OMIM:257790", source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009767 @@ -187313,7 +187286,7 @@ xref: MESH:C537739 {source="MONDO:equivalentTo"} xref: OMIM:257970 {source="MONDO:equivalentTo", source="Orphanet:2715"} xref: Orphanet:2715 {source="OMIM:257970", source="MONDO:equivalentTo"} xref: UMLS:C1850331 {source="OMIM:257970", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2715"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: disease_has_feature HP:0000486 ! Strabismus relationship: excluded_subClassOf MONDO:0015368 ! neuro-ophthalmological disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4050/oculorenocerebellar-syndrome" xsd:anyURI {source="GARD:0004050"} @@ -187512,7 +187485,7 @@ xref: MESH:C537752 {source="MONDO:equivalentTo"} xref: OMIM:258360 {source="MONDO:equivalentTo"} xref: Orphanet:2739 {source="MONDO:equivalentObsolete", source="OMIM:258360"} xref: UMLS:C1850316 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:258360"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10161/onychotrichodysplasia-and-neutropenia" xsd:anyURI {source="GARD:0010161"} [Term] @@ -187522,7 +187495,7 @@ synonym: "ophthalmoplegia totalis with ptosis and miosis" EXACT [OMIM:258400] xref: MESH:C564927 {source="MONDO:equivalentTo"} xref: OMIM:258400 {source="MONDO:equivalentTo"} xref: UMLS:C1850314 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:258400"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009783 @@ -187559,7 +187532,7 @@ synonym: "ophthalmoplegic neuromuscular disorder with abnormal mitochondria" EXA xref: MESH:C564925 {source="MONDO:equivalentTo"} xref: OMIM:258470 {source="MONDO:equivalentTo"} xref: UMLS:C1850302 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:258470"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009785 @@ -187647,7 +187620,7 @@ synonym: "optic atrophy, hearing loss, and peripheral neuropathy, autosomal rece xref: OMIM:258650 {source="MONDO:equivalentTo"} xref: UMLS:C1839566 {source="OMIM:258650", source="MONDO:relatedTo"} xref: UMLS:C1850270 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: disease_shares_features_of MONDO:0010699 ! Charcot-Marie-Tooth disease X-linked recessive 5 property_value: confidence "0.20000000000000018" xsd:double @@ -187687,7 +187660,7 @@ synonym: "impairment of oral perception" RELATED [GARD:0009476] synonym: "oral sensibility, disturbance of" EXACT [OMIM:258800] xref: OMIM:258800 {source="MONDO:equivalentTo", source="GARD:0009476"} xref: UMLS:C1850269 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:258800"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9476/impairment-of-oral-perception" xsd:anyURI {source="GARD:0009476"} [Term] @@ -188186,7 +188159,7 @@ synonym: "osteoma of middle ear" EXACT [OMIM:259650] xref: MESH:C564917 {source="MONDO:equivalentTo"} xref: OMIM:259650 {source="MONDO:equivalentTo"} xref: UMLS:C1850142 {source="OMIM:259650", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009812 @@ -188462,7 +188435,7 @@ xref: OMIM:259775 {source="MONDO:equivalentTo", source="Orphanet:1832", source=" xref: Orphanet:1832 {source="MONDO:equivalentTo", source="OMIM:259775"} xref: UMLS:C1850106 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:259775", source="Orphanet:1832", source="Orphanet:1832/e"} xref: UMLS:C1850141 {source="OMIM:259660", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0019702 {source="Orphanet:1832", source="PMID:31633310"} ! neonatal osteosclerotic dysplasia relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22140 {source="MONDO:mim2gene_medgen"} ! FAM20C property_value: confidence "7.125" xsd:double @@ -188609,7 +188582,7 @@ synonym: "Alpha-2-globulin polymorphism Pa" RELATED [OMIM:260100] synonym: "PA polymorphism of alpha-2-globulin" EXACT [OMIM:260100] xref: OMIM:260100 {source="MONDO:equivalentTo"} xref: UMLS:C1850104 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:260100"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009827 @@ -188633,7 +188606,7 @@ synonym: "unusual facies, cleft palate, mental retardation, and limb abnormaliti xref: MESH:C538102 {source="MONDO:equivalentTo"} xref: OMIM:260150 {source="MONDO:equivalentTo"} xref: UMLS:C1850102 {source="MONDO:equivalentTo", source="OMIM:260150", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4198/palant-cleft-palate-syndrome" xsd:anyURI {source="GARD:0004198"} [Term] @@ -188857,7 +188830,7 @@ synonym: "pancreatitis, sclerosing cholangitis, and sicca complex" EXACT [OMIM:2 xref: MESH:C564906 {source="MONDO:equivalentTo"} xref: OMIM:260480 {source="MONDO:equivalentTo"} xref: UMLS:C1850080 {source="MONDO:equivalentTo", source="OMIM:260480", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009837 @@ -188958,7 +188931,7 @@ xref: OMIM:260555 {source="MONDO:equivalentTo"} xref: Orphanet:2829 {source="OMIM:260555", source="MONDO:equivalentObsolete"} xref: UMLS:C1850075 {source="OMIM:260555", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:CN202825 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009841 @@ -188997,7 +188970,7 @@ synonym: "Pelger-Huet-like anomaly and episodic fever with abdominal pain" EXACT xref: MESH:C564899 {source="MONDO:equivalentTo"} xref: OMIM:260570 {source="MONDO:equivalentTo"} xref: UMLS:C1850054 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:260570"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0019751 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! autoinflammatory syndrome property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI @@ -189113,7 +189086,7 @@ synonym: "pericardial effusion, chronic" EXACT [OMIM:260900] xref: MESH:C564895 {source="MONDO:equivalentTo"} xref: OMIM:260900 {source="MONDO:equivalentTo"} xref: UMLS:C1850039 {source="OMIM:260900", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease intersection_of: MONDO:0001370 ! pericardial effusion intersection_of: has_characteristic PATO:0001863 ! chronic @@ -189169,7 +189142,7 @@ synonym: "periodontitis, chronic" BROAD [OMIM:260950] xref: OMIM:260950 {source="MONDO:equivalentTo"} xref: SCTID:74797001 {source="MONDO:equivalentTo"} xref: UMLS:C0266929 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:260950"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005593 ! chronic periodontitis property_value: confidence "0.4917695473251029" xsd:double @@ -189254,7 +189227,7 @@ name: peroneus tertius muscle, absence of synonym: "peroneus tertius muscle, absence of" EXACT [OMIM:261400] xref: OMIM:261400 {source="MONDO:equivalentTo"} xref: UMLS:C1850001 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:261400"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009855 @@ -189414,7 +189387,7 @@ name: phenformin 4-hydroxylation synonym: "phenformin 4-hydroxylation" EXACT [OMIM:261590] xref: OMIM:261590 {source="MONDO:equivalentTo"} xref: UMLS:C1849927 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:261590"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009861 @@ -190047,7 +190020,7 @@ synonym: "plasma clot retraction factor, deficiency of" EXACT [OMIM:262800] xref: MESH:C564885 {source="MONDO:equivalentTo"} xref: OMIM:262800 {source="MONDO:equivalentTo"} xref: UMLS:C1849778 {source="OMIM:262800", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009883 @@ -190081,7 +190054,7 @@ synonym: "Vienna-Hietzing defect" RELATED [OMIM:262875] xref: MESH:C564884 {source="MONDO:equivalentTo"} xref: OMIM:262875 {source="MONDO:equivalentTo"} xref: UMLS:C1849774 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:262875"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009885 @@ -190123,7 +190096,7 @@ synonym: "pleoconial myopathy with salt craving" EXACT [OMIM:262900] xref: MESH:C564883 {source="MONDO:equivalentTo"} xref: OMIM:262900 {source="MONDO:equivalentTo"} xref: UMLS:C1849773 {source="OMIM:262900", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10318/pleoconial-myopathy-with-salt-craving" xsd:anyURI {source="GARD:0010318"} [Term] @@ -190163,7 +190136,7 @@ synonym: "polycystic kidney, cataract, and congenital blindness" EXACT [OMIM:263 xref: MESH:C564882 {source="MONDO:equivalentTo"} xref: OMIM:263100 {source="MONDO:equivalentTo"} xref: UMLS:C1849771 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:263100"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -190354,7 +190327,7 @@ synonym: "polymyoclonus, infantile" EXACT [OMIM:263550] xref: MESH:C535524 {source="MONDO:equivalentTo"} xref: OMIM:263550 {source="MONDO:equivalentTo"} xref: UMLS:C1849731 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:263550"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009897 @@ -190398,7 +190371,7 @@ synonym: "polyhydramnios, chronic idiopathic" EXACT [OMIM:263610] xref: MESH:C564876 {source="MONDO:equivalentTo"} xref: OMIM:263610 {source="MONDO:equivalentTo"} xref: UMLS:C1849720 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:263610"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_characteristic MONDO:0700005 ! idiopathic [Term] @@ -190595,7 +190568,7 @@ xref: MESH:C563287 {source="MONDO:equivalentTo"} xref: OMIM:264060 {source="MONDO:equivalentTo"} xref: SCTID:424728002 {source="MONDO:equivalentTo"} xref: UMLS:C1828066 {source="OMIM:264060", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009908 @@ -190640,7 +190613,7 @@ synonym: "pseudocorpus luteum insufficiency" RELATED [OMIM:264080] xref: MESH:C564871 {source="MONDO:equivalentTo"} xref: OMIM:264080 {source="MONDO:equivalentTo"} xref: UMLS:C1849699 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:264080"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8910 {source="MONDO:mim2gene_medgen"} ! PGR [Term] @@ -190694,7 +190667,7 @@ synonym: "prolactin deficiency with obesity and enlarged testes" EXACT [OMIM:264 xref: MESH:C564870 {source="MONDO:equivalentTo"} xref: OMIM:264120 {source="MONDO:equivalentTo"} xref: UMLS:C1849698 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:264120"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009913 @@ -190705,7 +190678,7 @@ xref: MESH:C562894 {source="MONDO:equivalentTo"} xref: OMIM:264140 {source="MONDO:equivalentTo"} xref: SCTID:236529001 {source="MONDO:equivalentTo"} xref: UMLS:C0403551 {source="OMIM:264140", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009914 @@ -190781,8 +190754,6 @@ xref: UMLS:C0268296 {source="Orphanet:752", source="MONDO:ncbi_mim2gene_medline" xref: UMLS:C1849695 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:264300"} is_a: MONDO:0005151 ! endocrine system disorder is_a: MONDO:0017969 ! 46,XY disorder of sex development of endocrine origin -is_a: MONDO:0021124 {source="MONDO:0018412-obsoleted"} ! female infertility -is_a: MONDO:0021147 ! disorder of development or morphogenesis intersection_of: MONDO:0020040 ! 46,XY disorder of sex development intersection_of: disease_has_basis_in_disruption_of GO:0047045 ! testosterone 17-beta-dehydrogenase (NADP+) activity relationship: has_characteristic MONDO:0021136 ! rare @@ -190943,7 +190914,6 @@ xref: UMLS:C3669122 {source="Orphanet:753", source="MONDO:notFoundInDiseaseSubse is_a: MONDO:0002525 {source="MONDO:Redundant", source="NCIT:C98699"} ! inherited lipid metabolism disorder is_a: MONDO:0005151 ! endocrine system disorder is_a: MONDO:0017969 ! 46,XY disorder of sex development of endocrine origin -is_a: MONDO:0021147 ! disorder of development or morphogenesis relationship: has_characteristic MONDO:0021136 ! rare relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11285 {source="MONDO:mim2gene_medgen"} ! SRD5A2 property_value: confidence "3.7222222222222223" xsd:double @@ -191189,7 +191159,7 @@ xref: OMIM:265150 {source="Orphanet:1208/e", source="MONDO:equivalentTo", source xref: Orphanet:1208 {source="OMIM:265150", source="MONDO:equivalentTo"} xref: SCTID:253590009 {source="MONDO:equivalentTo"} xref: UMLS:C0344975 {source="Orphanet:1208/e", source="OMIM:265150", source="NCIT:C99032", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1208"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0020287 {source="Orphanet:1208"} ! pulmonary artery or pulmonary branch anomaly is_a: MONDO:0020291 {source="Orphanet:1208"} ! hypoplastic right heart syndrome property_value: confidence "7.125" xsd:double @@ -191201,7 +191171,7 @@ synonym: "pulmonary bullae causing pneumothorax" EXACT [OMIM:265200] xref: MESH:C564863 {source="MONDO:equivalentTo"} xref: OMIM:265200 {source="MONDO:equivalentTo"} xref: UMLS:C1849566 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:265200"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009933 @@ -191358,7 +191328,7 @@ xref: HP:0001642 {source="MONDO:otherHierarchy"} xref: OMIM:265500 {source="MONDO:equivalentTo"} xref: Orphanet:3189 {source="OMIM:265500"} xref: UMLS:C1956257 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:265500"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0017865 {source="Orphanet:3189/btnt"} ! congenital pulmonary valve stenosis property_value: confidence "31.33333333333327" xsd:double property_value: IAO:0000589 "pulmonic stenosis (disease)" xsd:string @@ -191371,7 +191341,7 @@ xref: MESH:C562895 {source="MONDO:equivalentTo"} xref: OMIM:265600 {source="MONDO:equivalentTo"} xref: SCTID:236530006 {source="MONDO:equivalentTo"} xref: UMLS:C0403552 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:265600"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009940 @@ -191408,7 +191378,7 @@ synonym: "Pygmy" EXACT [OMIM:265850] synonym: "Pygmy, African" RELATED [OMIM:265850] xref: OMIM:265850 {source="MONDO:equivalentTo"} xref: UMLS:C1849524 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:265850"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009942 @@ -191471,7 +191441,7 @@ xref: MESH:C562561 {source="MONDO:equivalentTo"} xref: OMIM:265950 {source="MONDO:equivalentTo"} xref: SCTID:27729002 {source="MONDO:equivalentTo"} xref: UMLS:C0266159 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:265950"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009945 @@ -191648,7 +191618,7 @@ synonym: "Radiculoneuropathy, fatal neonatal" EXACT [OMIM:266250] xref: MESH:C564857 {source="MONDO:equivalentTo"} xref: OMIM:266250 {source="MONDO:equivalentTo"} xref: UMLS:C1849471 {source="OMIM:266250", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009952 @@ -191791,7 +191761,7 @@ synonym: "Red skin pigment, New Guinea type" RELATED [GARD:0009757] xref: MESH:C535515 {source="MONDO:equivalentTo"} xref: OMIM:266350 {source="MONDO:equivalentTo"} xref: UMLS:C1849451 {source="OMIM:266350", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9757/red-skin-pigment-anomaly-of-new-guinea" xsd:anyURI {source="GARD:0009757"} [Term] @@ -191931,7 +191901,7 @@ synonym: "renal and mullerian duct hypoplasia" EXACT [OMIM:266810] xref: MESH:C564853 {source="MONDO:equivalentTo"} xref: OMIM:266810 {source="MONDO:equivalentTo"} xref: UMLS:C1849439 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:266810"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009962 @@ -192216,7 +192186,7 @@ synonym: "respiratory underresponsiveness to hypoxia and hypercapnia" EXACT [OMI xref: MESH:C564848 {source="MONDO:equivalentTo"} xref: OMIM:267480 {source="MONDO:equivalentTo"} xref: UMLS:C1849430 {source="OMIM:267480", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009973 @@ -192344,7 +192314,7 @@ synonym: "retinal degeneration and epilepsy" EXACT [OMIM:267740] xref: MESH:C564847 {source="MONDO:equivalentTo"} xref: OMIM:267740 {source="MONDO:equivalentTo"} xref: UMLS:C1849416 {source="MONDO:equivalentTo", source="OMIM:267740", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009977 @@ -192406,7 +192376,7 @@ xref: MESH:C535638 {source="MONDO:equivalentTo"} xref: OMIM:267900 {source="MONDO:equivalentTo"} xref: UMLS:C1849406 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2930961 {source="MONDO:equivalentTo", source="OMIM:267900"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0009981 @@ -192519,7 +192489,7 @@ synonym: "retinoschisis of fovea" EXACT [OMIM:268080] xref: MESH:C538369 {source="MONDO:equivalentTo"} xref: OMIM:268080 {source="MONDO:equivalentTo"} xref: UMLS:C1849397 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:268080"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0004579 {source="DC-OMIM:268080", source="MESH:C538369"} ! retinoschisis property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9143/retinoschisis-of-fovea" xsd:anyURI {source="GARD:0009143"} @@ -193253,7 +193223,7 @@ synonym: "second metatarsal-metacarpal syndrome" EXACT [OMIM:269630] xref: MESH:C564824 {source="MONDO:equivalentTo"} xref: OMIM:269630 {source="MONDO:equivalentTo"} xref: UMLS:C1849259 {source="OMIM:269630", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0010019 @@ -193267,7 +193237,7 @@ xref: Orphanet:69127 {source="OMIM:269650"} xref: SCTID:234554004 {source="MONDO:equivalentTo"} xref: UMLS:C0398709 {source="OMIM:269650", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0001341 {source="MESH:C562869"} ! selective IgA deficiency disease -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: confidence "1.880658436213991" xsd:double [Term] @@ -193330,7 +193300,7 @@ name: senile plaque formation synonym: "senile plaque formation" EXACT [OMIM:269800] xref: OMIM:269800 {source="MONDO:equivalentTo"} xref: UMLS:C1849249 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:269800"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0010023 @@ -193747,7 +193717,7 @@ synonym: "sodium pump sites, number of" RELATED [OMIM:270425] synonym: "sodium-potassium-ATPase activity of red cell" EXACT [OMIM:270425] xref: OMIM:270425 {source="MONDO:equivalentTo"} xref: UMLS:C1849169 {source="OMIM:270425", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0010038 @@ -193808,7 +193778,7 @@ synonym: "ataxia, spastic, childhood-onset, autosomal recessive, with optic atro xref: OMIM:270500 {source="MONDO:equivalentTo"} xref: UMLS:C1849156 {source="MONDO:relatedTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C3151619 {source="OMIM:270500", source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0010041 @@ -194132,7 +194102,7 @@ synonym: "spinal muscular atrophy with mental retardation" EXACT DEPRECATED [OMI xref: MESH:C564807 {source="MONDO:equivalentTo"} xref: OMIM:271109 {source="MONDO:equivalentTo"} xref: UMLS:C1849109 {source="OMIM:271109", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0010055 @@ -194383,7 +194353,7 @@ xref: MESH:C562761 {source="MONDO:equivalentTo"} xref: OMIM:271500 {source="MONDO:equivalentTo"} xref: SCTID:234131004 {source="MONDO:equivalentTo"} xref: UMLS:C0340826 {source="OMIM:271500", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0010068 @@ -194692,7 +194662,7 @@ xref: OMIM:271950 {source="MONDO:equivalentTo"} xref: Orphanet:3092 {source="OMIM:271950"} xref: Orphanet:99051 {source="OMIM:271950"} xref: UMLS:C1848979 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:271950"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0020392 {source="Orphanet:99051/btnt"} ! discrete fixed membranous subaortic stenosis property_value: confidence "20.99999999999995" xsd:double @@ -194747,7 +194717,7 @@ synonym: "sucrosuria, hiatus hernia and mental retardation" EXACT DEPRECATED [OM xref: MESH:C564792 {source="MONDO:equivalentTo"} xref: OMIM:272000 {source="MONDO:equivalentTo"} xref: UMLS:C1848963 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:272000"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0010085 @@ -195031,7 +195001,7 @@ xref: MESH:D000071057 {source="https://orcid.org/0000-0003-1967-3726", source="M xref: OMIM:272620 {source="MONDO:equivalentTo"} xref: SCTID:102449007 {source="MONDO:equivalentTo"} xref: UMLS:C0686347 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:272620"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: IAO:0000589 "tardive dyskinesia (disease)" xsd:string [Term] @@ -195193,7 +195163,7 @@ xref: MESH:D005671 {source="MONDO:equivalentTo"} xref: OMIM:273000 {source="MONDO:equivalentTo"} xref: SCTID:1744008 {source="MONDO:equivalentTo"} xref: UMLS:C0016873 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:273000"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0010104 @@ -195235,7 +195205,7 @@ name: testes, rudimentary synonym: "testes, rudimentary" EXACT [OMIM:273150] xref: OMIM:273150 {source="MONDO:equivalentTo"} xref: UMLS:C1848901 {source="OMIM:273150", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0010107 @@ -195387,7 +195357,7 @@ xref: OMIM:273490 {source="MONDO:equivalentTo"} xref: Orphanet:3311 {source="MONDO:equivalentObsolete", source="OMIM:273490"} xref: UMLS:C1848867 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2931220 {source="OMIM:273490", source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5160/thalamic-degeneration-symmetric-infantile" xsd:anyURI {source="GARD:0005160"} [Term] @@ -195620,7 +195590,7 @@ name: thumb, distal hyperextensibility of synonym: "thumb, distal hyperextensibility of" EXACT [OMIM:274200] xref: OMIM:274200 {source="MONDO:equivalentTo"} xref: UMLS:C1848817 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:274200"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0010125 @@ -195646,7 +195616,7 @@ synonym: "thymic aplasia with fetal death" EXACT [OMIM:274210] xref: MESH:C564768 {source="MONDO:equivalentTo"} xref: OMIM:274210 {source="MONDO:equivalentTo"} xref: UMLS:C1848815 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:274210"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0010127 @@ -196100,7 +196070,7 @@ synonym: "tibia, absence of, with congenital deafness" EXACT [OMIM:275230] xref: MESH:C564764 {source="MONDO:equivalentTo"} xref: OMIM:275230 {source="MONDO:equivalentTo"} xref: UMLS:C1848758 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:275230"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -196132,7 +196102,7 @@ name: tongue, pigmented fungiform papillae of synonym: "tongue, pigmented fungiform papillae of" EXACT [OMIM:275250] xref: OMIM:275250 {source="MONDO:equivalentTo"} xref: UMLS:C1848756 {source="OMIM:275250", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0010148 @@ -196375,7 +196345,7 @@ name: T-substance anomaly synonym: "T-substance anomaly" EXACT [OMIM:276200] xref: OMIM:276200 {source="MONDO:equivalentTo"} xref: UMLS:C1848724 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:276200"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0010159 @@ -196615,7 +196585,7 @@ synonym: "ulnar agenesis and endocardial fibroelastosis" EXACT [OMIM:276822] xref: MESH:C564756 {source="MONDO:equivalentTo"} xref: OMIM:276822 {source="MONDO:equivalentTo"} xref: UMLS:C1848649 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:276822"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0010167 @@ -196848,7 +196818,7 @@ synonym: "van Bogaert-Hozay syndrome" EXACT [OMIM:277150] xref: MESH:C536526 {source="MONDO:equivalentTo"} xref: OMIM:277150 {source="MONDO:equivalentTo"} xref: UMLS:C1848598 {source="OMIM:277150", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8415/van-bogaert-hozay-syndrome" xsd:anyURI {source="GARD:0008415"} [Term] @@ -196955,7 +196925,7 @@ xref: OMIM:277200 {source="MONDO:equivalentTo", source="Orphanet:439", source="O xref: Orphanet:439 {source="MONDO:equivalentTo", source="OMIM:277200"} xref: SCTID:718135001 {source="MONDO:equivalentTo"} xref: UMLS:C1848587 {source="MONDO:equivalentTo", source="OMIM:277200", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:439"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0020291 {source="Orphanet:439"} ! hypoplastic right heart syndrome property_value: confidence "7.125" xsd:double @@ -199073,7 +199043,7 @@ synonym: "hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainst xref: MESH:C537159 {source="MONDO:equivalentTo"} xref: OMIM:300184 {source="MONDO:equivalentTo"} xref: UMLS:C1970936 {source="OMIM:300184", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -199236,11 +199206,8 @@ xref: Orphanet:452 {source="MONDO:equivalentTo", source="OMIM:300215"} xref: SCTID:717632002 {source="MONDO:equivalentTo"} xref: UMLS:C1846171 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:300215", source="Orphanet:452"} xref: UMLS:C1846172 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:300215"} -is_a: MONDO:0005151 ! endocrine system disorder is_a: MONDO:0018496 {source="Orphanet:452"} ! ARX-related encephalopathy-brain malformation spectrum is_a: MONDO:0018838 {source="MESH:C564563/inferred", source="MONDO:0015147-obsoleted", source="MONDO:Redundant", source="OMIM:300215", source="Orphanet:452/inferred"} ! lissencephaly spectrum disorders -is_a: MONDO:0020040 ! 46,XY disorder of sex development -is_a: MONDO:0021147 ! disorder of development or morphogenesis relationship: has_characteristic HP:0001417 ! X-linked inheritance relationship: has_characteristic MONDO:0021136 ! rare relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18060 {source="MONDO:mim2gene_medgen"} ! ARX @@ -199327,7 +199294,6 @@ is_a: MONDO:0005151 ! endocrine system disorder is_a: MONDO:0010683 ! X-linked centronuclear myopathy is_a: MONDO:0017007 {source="Orphanet:456328"} ! partial deletion of the long arm of chromosome X is_a: MONDO:0020040 ! 46,XY disorder of sex development -is_a: MONDO:0021147 ! disorder of development or morphogenesis relationship: disease_arises_from_structure CHR:9606-chrXq28 {source="https://orcid.org/0000-0002-4142-7153"} ! Xq28 (Human) relationship: has_characteristic HP:0001417 ! X-linked inheritance relationship: has_characteristic MONDO:0021136 ! rare @@ -199408,7 +199374,7 @@ synonym: "radioulnar synostosis, radial RAY abnormalities, and severe malformati xref: MESH:C564557 {source="MONDO:equivalentTo"} xref: OMIM:300233 {source="MONDO:equivalentTo"} xref: UMLS:C1846147 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300233"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0010277 @@ -199841,7 +199807,7 @@ xref: DOID:0112148 {source="MONDO:equivalentTo"} xref: MESH:C564544 {source="MONDO:equivalentTo"} xref: OMIM:300280 {source="MONDO:equivalentTo"} xref: UMLS:C1846010 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300280"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3702 {source="MONDO:mim2gene_medgen"} ! FHL1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -201772,7 +201738,7 @@ xref: MESH:C564476 {source="MONDO:equivalentTo"} xref: OMIM:300604 {source="MONDO:equivalentTo"} xref: Orphanet:619 {source="OMIM:300604"} xref: UMLS:C1845105 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300604"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0019852 {source="DC-OMIM:300604", source="MESH:C564476", source="OMIM:300604"} ! inherited primary ovarian failure intersection_of: MONDO:0019852 ! inherited primary ovarian failure intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13711 ! POF1B @@ -201912,7 +201878,7 @@ synonym: "cataracts, ataxia, short stature, and mental retardation" RELATED DEPR xref: MESH:C535345 {source="MONDO:equivalentTo"} xref: OMIM:300619 {source="MONDO:equivalentTo"} xref: UMLS:C1845094 {source="OMIM:300619", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0010381 @@ -201925,7 +201891,7 @@ xref: DOID:0080520 {source="MONDO:equivalentTo"} xref: MESH:C562719 {source="MONDO:equivalentTo"} xref: OMIM:300622 {source="MONDO:equivalentTo"} xref: UMLS:C0272137 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300622"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24338 {source="MONDO:mim2gene_medgen"} ! C1GALT1C1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -202093,7 +202059,7 @@ xref: Orphanet:319605 {source="OMIM:300636"} xref: UMLS:C1845117 {source="OMIM:300584", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C1970879 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="MONDO:preferredExternal", source="OMIM:300636"} is_a: MONDO:0003778 {source="DC-OMIM:300584", source="MESH:C536289"} ! inborn error of immunity -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0021094 {xref="OMIM:300636"} ! immunodeficiency disease is_a: MONDO:0100162 {source="https://orcid.org/0000-0002-7437-8060"} ! IKBKG-related immunodeficiency with or without ectodermal dysplasia relationship: excluded_subClassOf MONDO:0017905 {source="Orphanet:319612"} ! X-linked Mendelian susceptibility to mycobacterial diseases @@ -202671,7 +202637,7 @@ synonym: "pyloric stenosis, infantile hypertrophic, 4" EXACT [MONDO:Lexical, OMI xref: MESH:C567472 {source="MONDO:equivalentTo"} xref: OMIM:300711 {source="MONDO:equivalentTo"} xref: UMLS:C2678037 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300711"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0100239 {source="DC-OMIM:300711", source="MESH:C567472", source="OMIM:300711"} ! inherited hypertrophic pyloric stenosis property_value: confidence "3.8773052888279222" xsd:double @@ -203253,7 +203219,7 @@ xref: MESH:C543241 {source="MONDO:equivalentTo"} xref: OMIM:300829 {source="MONDO:equivalentTo"} xref: OMIM:606163 {source="MONDO:equivalentObsolete", source="GARD:0008311"} xref: UMLS:C1853577 {source="OMIM:300829", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8311/cardiomyopathy-fatal-fetal-due-to-myocardial-calcification" xsd:anyURI {source="GARD:0008311"} [Term] @@ -204703,7 +204669,7 @@ xref: DOID:0112002 {source="MONDO:equivalentTo"} xref: OMIM:300972 {source="MONDO:equivalentTo"} xref: UMLS:C4310819 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0003778 {source="DC-OMIM:300972", source="MONDO:Redundant"} ! inborn error of immunity -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease intersection_of: MONDO:0003778 ! inborn error of immunity intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/868 ! ATP6AP1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/868 {source="MONDO:mim2gene_medgen"} ! ATP6AP1 @@ -204908,7 +204874,7 @@ xref: DOID:0111861 {source="MONDO:equivalentTo"} xref: NCIT:C187989 {source="MONDO:equivalentTo"} xref: OMIM:300989 {source="MONDO:equivalentTo"} xref: UMLS:C4310811 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0800091 {source="PMID:31633310"} ! overgrowth or tall stature syndrome with skeletal involvement relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1044 {source="MONDO:mim2gene_medgen"} ! BGN property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -205033,7 +204999,6 @@ is_a: MONDO:0005151 ! endocrine system disorder is_a: MONDO:0016513 {source="Orphanet:847"} ! alpha-thalassemia-related diseases is_a: MONDO:0016980 {source="Orphanet:847"} ! ATR-X-related syndrome is_a: MONDO:0020040 ! 46,XY disorder of sex development -is_a: MONDO:0021147 ! disorder of development or morphogenesis relationship: has_characteristic HP:0001417 ! X-linked inheritance relationship: has_characteristic MONDO:0021136 ! rare relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/886 {source="MONDO:mim2gene_medgen"} ! ATRX @@ -205101,7 +205066,7 @@ xref: OMIM:301200 {source="GARD:0009943", source="MONDO:equivalentTo", source="D xref: Orphanet:100033 {source="OMIM:301200"} xref: UMLS:C1845052 {source="OMIM:301200", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1845053 {source="OMIM:301200", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0015048 {source="Orphanet:100033/btnt"} ! amelogenesis imperfecta type 2 is_a: MONDO:0019507 {source="DOID:0110058", source="MONDO:Redundant", source="OMIM:301200", source="Orphanet:88661/btnt"} ! amelogenesis imperfecta intersection_of: MONDO:0019507 ! amelogenesis imperfecta @@ -205505,7 +205470,7 @@ synonym: "tubulin, beta" EXACT [OMIM:301850] xref: OMIM:301850 {source="MONDO:equivalentTo"} xref: UMLS:C0005290 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:301850"} xref: UMLS:C3887557 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0010537 @@ -205794,7 +205759,7 @@ synonym: "central incisors, absence of" EXACT [OMIM:302400] xref: OMIM:302400 {source="MONDO:equivalentTo"} xref: Orphanet:2227 {source="OMIM:302400"} xref: UMLS:C1844886 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:302400"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0010547 @@ -206544,7 +206509,7 @@ xref: Orphanet:79482 {source="OMIM:304200", source="MONDO:equivalentObsolete"} xref: UMLS:C0795848 {source="OMIM:304200", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1844682 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:CN237776 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0010574 @@ -207150,7 +207115,6 @@ xref: SCTID:2298005 {source="DOID:2120"} xref: UMLS:C0016395 {source="DOID:2120", source="NCIT:C84715", source="OMIM:305600", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2092", source="Orphanet:2092/e"} is_a: MONDO:0019755 ! developmental defect during embryogenesis is_a: MONDO:0020119 {source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability -is_a: MONDO:0021147 ! disorder of development or morphogenesis relationship: excluded_subClassOf MONDO:0003900 ! connective tissue disorder relationship: excluded_subClassOf MONDO:0005328 ! eye disorder relationship: excluded_subClassOf MONDO:0015160 {source="Orphanet:2092"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome @@ -207298,7 +207262,7 @@ synonym: "granulomas, congenital cerebral" EXACT [OMIM:306300] xref: MESH:C537294 {source="MONDO:equivalentTo"} xref: OMIM:306300 {source="MONDO:equivalentTo"} xref: UMLS:C1844406 {source="OMIM:306300", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8368/granulomas-congenital-cerebral" xsd:anyURI {source="GARD:0008368"} [Term] @@ -207464,7 +207428,7 @@ name: hemopoietic proliferation synonym: "hemopoietic proliferation" EXACT [OMIM:306930] xref: OMIM:306930 {source="MONDO:equivalentTo"} xref: UMLS:C1844026 {source="OMIM:306930", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0010606 @@ -207518,7 +207482,7 @@ synonym: "Hhhh syndrome" EXACT [OMIM:306960] xref: MESH:C564411 {source="MONDO:equivalentTo"} xref: OMIM:306960 {source="MONDO:equivalentTo"} xref: UMLS:C1844019 {source="OMIM:306960", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0010609 @@ -207923,7 +207887,7 @@ xref: Orphanet:431 {source="MONDO:equivalentObsolete", source="OMIM:308200"} xref: SCTID:2355008 {source="MONDO:equivalentTo"} xref: UMLS:C0270709 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:308200"} xref: UMLS:C1839989 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:308200"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0010624 @@ -208037,7 +208001,7 @@ name: immunoglobulin M, level of synonym: "immunoglobulin M, level of" EXACT [OMIM:308250] xref: OMIM:308250 {source="MONDO:equivalentTo"} xref: UMLS:C1839966 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:308250"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0010629 @@ -208045,7 +208009,7 @@ name: impacted teeth, multiple synonym: "impacted teeth, multiple" EXACT [OMIM:308280] xref: OMIM:308280 {source="MONDO:equivalentTo"} xref: UMLS:C1839965 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:308280"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0010630 @@ -208053,7 +208017,7 @@ name: imprinting gene related to retinoblastoma synonym: "imprinting gene related to retinoblastoma" EXACT [OMIM:308290] xref: OMIM:308290 {source="MONDO:equivalentTo"} xref: UMLS:C1839964 {source="OMIM:308290", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0010631 @@ -208145,7 +208109,7 @@ synonym: "jaundice, familial obstructive, of infancy" EXACT [OMIM:308600] xref: MESH:C564118 {source="MONDO:equivalentTo"} xref: OMIM:308600 {source="MONDO:equivalentTo"} xref: UMLS:C1839927 {source="OMIM:308600", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0010635 @@ -209387,7 +209351,7 @@ synonym: "Myelolymphatic insufficiency" EXACT [OMIM:310350] synonym: "Pelger-like anomaly with leukopenia and susceptibility to infections" RELATED [OMIM:310350] xref: OMIM:310350 {source="MONDO:equivalentTo"} xref: UMLS:C1839650 {source="OMIM:310350", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0010682 @@ -209656,7 +209620,7 @@ synonym: "nRNA" RELATED [MONDO:Lexical, OMIM:310650] synonym: "nuclear ribonucleic acid" EXACT [MONDO:Lexical, OMIM:310650] xref: OMIM:310650 {source="MONDO:equivalentTo"} xref: UMLS:C1839581 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:310650"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0010693 @@ -209697,7 +209661,7 @@ xref: MESH:C564088 {source="MONDO:equivalentTo"} xref: OMIM:310800 {source="MONDO:equivalentTo"} xref: Orphanet:651 {source="OMIM:310800"} xref: UMLS:C1839579 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:310800"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005712 {source="DC-OMIM:310800", source="MONDO:cjm"} ! congenital nystagmus property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9605/nystagmus-myoclonic" xsd:anyURI {source="GARD:0009605"} @@ -209707,7 +209671,7 @@ name: occipital hair, white lock of synonym: "occipital hair, white lock of" EXACT [OMIM:310900] xref: OMIM:310900 {source="MONDO:equivalentTo"} xref: UMLS:C1839578 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:310900"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0010696 @@ -209716,7 +209680,7 @@ synonym: "omphalocele, X-linked" EXACT [OMIM:310980] xref: OMIM:310980 {source="MONDO:equivalentTo"} xref: Orphanet:660 {source="OMIM:310980"} xref: UMLS:C3275625 {source="MONDO:equivalentTo", source="OMIM:310980"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0019015 {source="DC-OMIM:310980"} ! omphalocele property_value: confidence "48.99999999999989" xsd:double @@ -209963,7 +209927,7 @@ xref: OMIM:311360 {source="MONDO:equivalentTo"} xref: Orphanet:619 {source="OMIM:311360"} xref: UMLS:C2749126 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3494522 {source="OMIM:311360", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0019852 {source="DC-OMIM:311360", source="OMIM:311360"} ! inherited primary ovarian failure intersection_of: MONDO:0019852 ! inherited primary ovarian failure intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3945 ! FRAXA @@ -209981,7 +209945,7 @@ synonym: "Seemanova syndrome 1" RELATED [OMIM:311400] xref: MESH:C538101 {source="MONDO:equivalentTo"} xref: OMIM:311400 {source="MONDO:equivalentTo"} xref: UMLS:C1412041 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:311400"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9780/paine-syndrome" xsd:anyURI {source="GARD:0009780"} [Term] @@ -210771,7 +210735,7 @@ synonym: "TaqI polymorphism" RELATED [OMIM:313480] synonym: "Taqi polymorphism" EXACT [MONDO:Lexical, OMIM:313480] xref: OMIM:313480 {source="MONDO:equivalentTo"} xref: UMLS:C1839238 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:313480"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0010740 @@ -210781,7 +210745,7 @@ synonym: "taurodontism, microdontia, and dens invaginatus" EXACT [OMIM:313490] xref: MESH:C536947 {source="MONDO:equivalentTo"} xref: OMIM:313490 {source="MONDO:equivalentTo"} xref: UMLS:C1839235 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:313490"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10068/taurodontism-microdontia-and-dens-invaginatus" xsd:anyURI {source="GARD:0010068"} [Term] @@ -210879,7 +210843,7 @@ synonym: "thrombocytopenia with elevated serum IgA and renal disease" EXACT [OMI xref: MESH:C564051 {source="MONDO:equivalentTo"} xref: OMIM:314000 {source="MONDO:equivalentTo"} xref: UMLS:C1839162 {source="OMIM:314000", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0010745 @@ -210914,7 +210878,7 @@ synonym: "thumbs, congenital Clasped" EXACT [OMIM:314100] xref: OMIM:314100 {source="MONDO:equivalentTo"} xref: UMLS:C0431886 {source="OMIM:314100", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:CN074234 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -211024,7 +210988,7 @@ name: unique green phenomenon synonym: "unique green phenomenon" EXACT [OMIM:314380] xref: OMIM:314380 {source="MONDO:equivalentTo"} xref: UMLS:C1839116 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:314380"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0010752 @@ -211121,7 +211085,7 @@ synonym: "widow's peak, ptosis, and skeletal anomalies" RELATED [OMIM:314570] xref: MESH:C564040 {source="MONDO:equivalentTo"} xref: OMIM:314570 {source="MONDO:equivalentTo"} xref: UMLS:C1839112 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:314570"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0010758 @@ -211201,7 +211165,7 @@ xref: MESH:C009691 {source="MONDO:equivalentTo"} xref: OMIM:314800 {source="MONDO:equivalentTo"} xref: UMLS:C0604085 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:314800"} xref: UMLS:C3887689 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0010761 @@ -211390,7 +211354,7 @@ synonym: "Ube1Y" RELATED [OMIM:489000] synonym: "ubiquitin-activating enzyme, Y-linked" EXACT [OMIM:489000] xref: OMIM:489000 {source="MONDO:equivalentTo"} xref: UMLS:C1839046 {source="OMIM:489000", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0010771 @@ -211522,7 +211486,7 @@ name: cardiomyopathy, infantile hypertrophic xref: DOID:0111753 {source="MONDO:equivalentTo"} xref: OMIM:500006 {source="MONDO:equivalentTo"} xref: UMLS:C2748884 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0010778 @@ -211594,7 +211558,7 @@ xref: DOID:0111750 {source="MONDO:equivalentTo"} xref: MESH:C564020 {source="MONDO:equivalentTo"} xref: OMIM:500010 {source="MONDO:equivalentTo"} xref: UMLS:C1838916 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: disease_has_basis_in_disruption_of GO:0006281 {source="https://orcid.org/0000-0001-6330-7526"} ! DNA repair property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3195" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5666" xsd:anyURI @@ -211631,7 +211595,7 @@ synonym: "chloramphenicol toxicity" EXACT [OMIM:515000] xref: OMIM:515000 {source="MONDO:equivalentTo"} xref: UMLS:C0008170 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:515000"} xref: UMLS:C1838989 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:515000"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0010785 @@ -211884,7 +211848,7 @@ synonym: "nephropathy, chronic tubulointerstitial" EXACT [OMIM:551200] xref: MESH:C564016 {source="MONDO:equivalentTo"} xref: OMIM:551200 {source="MONDO:equivalentTo"} xref: UMLS:C1838875 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:551200"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0010794 @@ -212314,7 +212278,7 @@ synonym: "macrocytosis, familial" EXACT [OMIM:600084] xref: MESH:C564004 {source="MONDO:equivalentTo"} xref: OMIM:600084 {source="MONDO:equivalentTo"} xref: UMLS:C1838656 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:600084"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0010813 @@ -212346,7 +212310,7 @@ xref: UMLS:C1838654 {source="Orphanet:1422", source="DOID:0060644", source="MOND is_a: MONDO:0002254 {source="DOID:0060644"} ! syndromic disease is_a: MONDO:0005151 ! endocrine system disorder is_a: MONDO:0020040 ! 46,XY disorder of sex development -is_a: MONDO:0021147 ! disorder of development or morphogenesis +is_a: MONDO:0021147 {source="https://orcid.org/0000-0001-5208-3432"} ! disorder of development or morphogenesis relationship: excluded_subClassOf MONDO:0018232 {source="Orphanet:1422"} ! obsolete primary bone dysplasia with micromelia relationship: has_characteristic MONDO:0021136 ! rare property_value: confidence "37.0952380952381" xsd:double @@ -212598,7 +212562,7 @@ xref: UMLS:C1838611 {source="OMIM:600122", source="MONDO:ncbi_mim2gene_medline", xref: UMLS:C2931233 {source="Orphanet:2983", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0005151 ! endocrine system disorder is_a: MONDO:0020040 ! 46,XY disorder of sex development -is_a: MONDO:0021147 ! disorder of development or morphogenesis +is_a: MONDO:0021147 {source="https://orcid.org/0000-0001-5208-3432"} ! disorder of development or morphogenesis relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:2983"} ! syndromic intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare property_value: confidence "2.692307692307692" xsd:double @@ -212920,7 +212884,7 @@ synonym: "gonadal agenesis" EXACT [OMIM:600171] xref: NCIT:C27228 {source="MONDO:equivalentTo"} xref: OMIM:600171 {source="MONDO:equivalentTo"} xref: UMLS:C0949331 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="NCIT:C27228", source="OMIM:600171"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0010839 @@ -213518,7 +213482,7 @@ synonym: "motor neuron disease with dementia and ophthalmoplegia" EXACT [OMIM:60 xref: MESH:C563954 {source="MONDO:equivalentTo"} xref: OMIM:600333 {source="MONDO:equivalentTo"} xref: UMLS:C1838253 {source="OMIM:600333", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0020128 {source="MESH:C563954"} ! motor neuron disorder relationship: disease_has_feature MONDO:0001627 {source="MESH:C563954"} ! dementia relationship: disease_has_feature MONDO:0003425 {source="MESH:C563954"} ! ophthalmoplegia @@ -213569,7 +213533,7 @@ synonym: "PDDP" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600343] xref: OMIM:600343 {source="MONDO:equivalentTo"} xref: UMLS:C1838240 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3551133 {source="OMIM:600343", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0010873 @@ -213593,7 +213557,7 @@ synonym: "enteropathy, familial, with villous edema and immunoglobulin G2 defici xref: MESH:C563949 {source="MONDO:equivalentTo"} xref: OMIM:600351 {source="MONDO:equivalentTo"} xref: UMLS:C1838238 {source="OMIM:600351", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0010875 @@ -213602,7 +213566,7 @@ synonym: "pachydermodactyly, familial" EXACT [OMIM:600356] xref: MESH:C563947 {source="MONDO:equivalentTo"} xref: OMIM:600356 {source="MONDO:equivalentTo"} xref: UMLS:C1838218 {source="OMIM:600356", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0010876 @@ -214096,7 +214060,7 @@ xref: OMIM:600510 {source="MONDO:equivalentTo", source="DOID:0060680"} xref: Orphanet:26823 {source="MONDO:equivalentObsolete", source="OMIM:600510"} xref: SCTID:392133001 {source="MONDO:equivalentTo"} xref: UMLS:C1271398 {source="OMIM:600510", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005328 {source="DOID:0060680", source="MESH:C563184/inferred"} ! eye disorder property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4356/pigment-dispersion-syndrome" xsd:anyURI {source="GARD:0004356"} @@ -214239,7 +214203,7 @@ synonym: "setting-Sun phenomenon, familial benign" EXACT [OMIM:600598] xref: MESH:C563470 {source="MONDO:equivalentTo"} xref: OMIM:600598 {source="MONDO:equivalentTo"} xref: UMLS:C1833577 {source="OMIM:600598", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0010905 @@ -214358,7 +214322,7 @@ synonym: "enuresis, nocturnal, 1" EXACT [MONDO:Lexical, OMIM:600631] xref: OMIM:600631 {source="MONDO:equivalentTo"} xref: UMLS:C0270327 {source="OMIM:600631", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0000022 {source="DC-OMIM:600631"} ! nocturnal enuresis -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0010911 @@ -214600,7 +214564,7 @@ synonym: "varicella, severe recurrent" EXACT [OMIM:600670] xref: MESH:C563458 {source="MONDO:equivalentTo"} xref: OMIM:600670 {source="MONDO:equivalentTo"} xref: UMLS:C1833487 {source="OMIM:600670", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0010920 @@ -214641,7 +214605,7 @@ xref: MESH:C563455 {source="MONDO:equivalentTo"} xref: OMIM:600679 {source="MONDO:equivalentTo", source="Orphanet:141103", source="Orphanet:141103/e"} xref: Orphanet:141103 {source="MONDO:equivalentTo", source="OMIM:600679"} xref: UMLS:C1833473 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:600679", source="Orphanet:141103"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0015476 {source="Orphanet:141103"} ! cysts and fistulae of the face and oral cavity intersection_of: MONDO:0002378 ! dermoid cyst intersection_of: disease_has_location UBERON:0000004 ! nose @@ -214679,7 +214643,7 @@ xref: MESH:C563453 {source="MONDO:equivalentTo"} xref: OMIM:600706 {source="MONDO:equivalentTo", source="Orphanet:521305"} xref: Orphanet:521305 {source="MONDO:equivalentTo"} xref: UMLS:C1833453 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:600706"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005336 {source="https://orcid.org/0000-0001-5208-3432"} ! myopathy relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1938 {source="Orphanet:521305"} ! CHKB @@ -214956,7 +214920,7 @@ name: isoproterenol-mediated vasodilatation synonym: "isoproterenol-mediated vasodilatation" EXACT [OMIM:600801] xref: OMIM:600801 {source="MONDO:equivalentTo"} xref: UMLS:C1833276 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:600801"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0010938 @@ -215038,7 +215002,7 @@ xref: MESH:C563439 {source="MONDO:equivalentTo"} xref: OMIM:600808 {source="MONDO:equivalentTo"} xref: UMLS:C1833268 {source="OMIM:600808", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000022 {source="DC-OMIM:600808"} ! nocturnal enuresis -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0010942 @@ -215077,7 +215041,7 @@ synonym: "mitochondrial import-stimulating factor" EXACT [OMIM:600851] synonym: "MSF" RELATED ABBREVIATION [OMIM:600851] xref: OMIM:600851 {source="MONDO:equivalentTo"} xref: UMLS:C1833246 {source="OMIM:600851", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0010945 @@ -215348,7 +215312,7 @@ synonym: "Seow Najjar syndrome" RELATED [GARD:0004801] xref: MESH:C563430 {source="MONDO:equivalentTo"} xref: OMIM:600907 {source="MONDO:equivalentTo"} xref: UMLS:C1833163 {source="OMIM:600907", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0010957 @@ -215413,7 +215377,7 @@ synonym: "protocadherin 3" EXACT [OMIM:600931] synonym: "protocadherin type 3" EXACT [MONDORULE:1, OMIM:600931] xref: OMIM:600931 {source="MONDO:equivalentTo"} xref: UMLS:C1833117 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:600931"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0010961 @@ -215692,7 +215656,7 @@ xref: DOID:0111697 {source="MONDO:equivalentTo"} xref: MESH:C563414 {source="MONDO:equivalentTo"} xref: OMIM:600987 {source="MONDO:equivalentTo"} xref: UMLS:C1832950 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:600987"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7001 {source="MONDO:mim2gene_medgen"} ! MEIS2 [Term] @@ -215842,7 +215806,7 @@ synonym: "portal vein, cavernous transformation of" EXACT [OMIM:601004] xref: MESH:C563407 {source="MONDO:equivalentTo"} xref: OMIM:601004 {source="MONDO:equivalentTo"} xref: UMLS:C1832917 {source="OMIM:601004", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0010979 @@ -215890,7 +215854,7 @@ xref: MESH:C536177 {source="MONDO:equivalentTo"} xref: OMIM:601016 {source="MONDO:equivalentTo"} xref: Orphanet:1678 {source="MONDO:equivalentObsolete", source="OMIM:601016"} xref: UMLS:C1832874 {source="OMIM:601016", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0010981 @@ -215925,7 +215889,7 @@ synonym: "ichthyosis-mental retardation syndrome with large keratohyalin granule xref: MESH:C563402 {source="MONDO:equivalentTo"} xref: OMIM:601039 {source="MONDO:equivalentTo"} xref: UMLS:C1832858 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:601039"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0010983 @@ -216121,7 +216085,7 @@ xref: MESH:C563391 {source="MONDO:equivalentTo"} xref: OMIM:601086 {source="MONDO:equivalentTo"} xref: Orphanet:450 {source="OMIM:601086"} xref: UMLS:C1832813 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:601086"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0018677 {source="Orphanet:450/btnt"} ! visceral heterotaxy property_value: confidence "2.249999999999999" xsd:double @@ -216344,7 +216308,7 @@ synonym: "GUCY2E" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601138] synonym: "GUCY2EP" RELATED ABBREVIATION [OMIM:601138] xref: OMIM:601138 {source="MONDO:equivalentTo"} xref: UMLS:C1415365 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:601138"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011001 @@ -217038,7 +217002,7 @@ synonym: "myeloid leukemia-related locus" RELATED [OMIM:601308] synonym: "myeloid tumor suppressor" EXACT [OMIM:601308] xref: OMIM:601308 {source="MONDO:equivalentTo"} xref: UMLS:C1832510 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:601308"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011030 @@ -217047,7 +217011,7 @@ synonym: "Ebcr" RELATED [OMIM:601315] synonym: "epithelial basolateral chloride conductance regulator, rabbit, homolog of" EXACT [OMIM:601315] xref: OMIM:601315 {source="MONDO:equivalentTo"} xref: UMLS:C1832477 {source="OMIM:601315", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011031 @@ -217136,7 +217100,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4053/odontom [Term] id: MONDO:0011035 name: neurofibromatosis-Noonan syndrome -def: "A RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as cafC)-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when cafC)-au-lait spots are present in patients diagnosed with NS)." [Orphanet:638] +def: "A RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when cafC)-au-lait spots are present in patients diagnosed with NS)." [Orphanet:638] subset: gard_rare {source="GARD:0000372"} subset: ordo_malformation_syndrome {source="Orphanet:638"} synonym: "neurofibromatosis type 1-Noonan syndrome" EXACT [Orphanet:638] @@ -217157,7 +217121,6 @@ xref: UMLS:C2931482 {source="OMIM:601321", source="Orphanet:638", source="MONDO: is_a: MONDO:0019755 ! developmental defect during embryogenesis is_a: MONDO:0021060 {source="MONDO:cjm", source="Orphanet:textdef"} ! RASopathy is_a: MONDO:0021061 {source="https://orcid.org/0000-0001-6330-7526"} ! neurofibromatosis -is_a: MONDO:0021147 ! disorder of development or morphogenesis relationship: excluded_subClassOf MONDO:0019289 {source="Orphanet:638"} ! hyperpigmentation of the skin relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:638"} ! obsolete rare skin tumor or hamartoma relationship: has_characteristic MONDO:0021136 ! rare @@ -217274,7 +217237,7 @@ xref: OMIM:601346 {source="MONDO:equivalentTo"} xref: Orphanet:137862 {source="MONDO:equivalentObsolete", source="OMIM:601346"} xref: UMLS:C1832443 {source="OMIM:601346", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:CN199270 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011043 @@ -217283,7 +217246,7 @@ synonym: "myelodysplasia, immunodeficiency, facial dysmorphism, short stature, a xref: MESH:C563345 {source="MONDO:equivalentTo"} xref: OMIM:601347 {source="MONDO:equivalentTo"} xref: UMLS:C1832442 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:601347"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011044 @@ -217292,7 +217255,7 @@ synonym: "ectrodactyly of lower limbs, congenital heart defect, and micrognathia xref: MESH:C563344 {source="MONDO:equivalentTo"} xref: OMIM:601348 {source="MONDO:equivalentTo"} xref: UMLS:C1832441 {source="MONDO:equivalentTo", source="OMIM:601348", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011045 @@ -217458,7 +217421,7 @@ xref: MESH:C536713 {source="MONDO:equivalentTo"} xref: OMIM:601357 {source="MONDO:equivalentTo"} xref: UMLS:C1832434 {source="OMIM:601357", source="GARD:0000641", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/641/amelia-cleft-lip-palate-hydrocephalus-iris-coloboma" xsd:anyURI {source="GARD:0000641"} [Term] @@ -217685,7 +217648,7 @@ xref: MESH:C535355 {source="MONDO:equivalentTo"} xref: OMIM:601372 {source="MONDO:equivalentTo"} xref: UMLS:C1832422 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:601372"} is_a: MONDO:0001595 {source="DC-OMIM:601372"} ! choreatic disease -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011062 @@ -217841,7 +217804,7 @@ synonym: "Frydman Cohen Ashkenazi syndrome" RELATED [GARD:0001227] xref: MESH:C538072 {source="MONDO:equivalentTo"} xref: OMIM:601389 {source="MONDO:equivalentTo"} xref: UMLS:C1832391 {source="OMIM:601389", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1227/cervical-ribs-sprengel-anomaly-anal-atresia-and-urethral-obstruction" xsd:anyURI {source="GARD:0001227"} [Term] @@ -218038,7 +218001,7 @@ synonym: "microcephaly, facial clefting, and preaxial polydactyly" RELATED [GARD xref: MESH:C537547 {source="MONDO:equivalentTo"} xref: OMIM:601420 {source="MONDO:equivalentTo"} xref: UMLS:C1832369 {source="OMIM:601420", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3614/microcephaly-corpus-callosum-dysgenesis-and-cleft-lip-palate" xsd:anyURI {source="GARD:0003614"} [Term] @@ -218053,7 +218016,7 @@ xref: MESH:C537694 {source="Orphanet:2321", source="MONDO:equivalentTo"} xref: OMIM:601427 {source="Orphanet:2321", source="MONDO:equivalentTo"} xref: Orphanet:2321 {source="MONDO:equivalentTo", source="OMIM:601427"} xref: UMLS:C1832362 {source="Orphanet:2321", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:601427"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011079 @@ -218293,7 +218256,7 @@ xref: MESH:C562830 {source="MONDO:equivalentTo"} xref: OMIM:601466 {source="MONDO:equivalentTo"} xref: SCTID:253330006 {source="MONDO:equivalentTo"} xref: UMLS:C0344688 {source="OMIM:601466", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10483/patent-ductus-venosus" xsd:anyURI {source="GARD:0010483"} [Term] @@ -219090,7 +219053,7 @@ synonym: "acute insulin response" EXACT [OMIM:601676] synonym: "Air" RELATED [OMIM:601676] xref: OMIM:601676 {source="MONDO:equivalentTo"} xref: UMLS:C1866503 {source="OMIM:601676", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_characteristic PATO:0000389 ! acute [Term] @@ -219149,7 +219112,7 @@ synonym: "sebaceous gland hyperplasia, familial presenile" EXACT [OMIM:601700] xref: MESH:C537530 {source="MONDO:equivalentTo"} xref: OMIM:601700 {source="MONDO:equivalentTo"} xref: UMLS:C1866428 {source="MONDO:equivalentTo", source="OMIM:601700", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10031/sebaceous-gland-hyperplasia-familial-presenile" xsd:anyURI {source="GARD:0010031"} [Term] @@ -219252,7 +219215,7 @@ synonym: "superior transverse scapular ligament, calcification of, familial" EXA xref: MESH:C566638 {source="MONDO:equivalentTo"} xref: OMIM:601708 {source="MONDO:equivalentTo"} xref: UMLS:C1866424 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:601708"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011136 @@ -219895,7 +219858,7 @@ synonym: "sperm-specific antigen type 1" EXACT [MONDORULE:1, OMIM:601876] synonym: "SSFA1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601876] xref: OMIM:601876 {source="MONDO:equivalentTo"} xref: UMLS:C1420425 {source="OMIM:601876", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011162 @@ -220153,7 +220116,7 @@ synonym: "otofacioosseous-gonadal syndrome" EXACT [OMIM:601976] xref: MESH:C566597 {source="MONDO:equivalentTo"} xref: OMIM:601976 {source="MONDO:equivalentTo"} xref: UMLS:C1865988 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:601976"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011173 @@ -220306,7 +220269,7 @@ synonym: "broad terminal phalanges, familial" EXACT [OMIM:602071] xref: MESH:C566588 {source="MONDO:equivalentTo"} xref: OMIM:602071 {source="MONDO:equivalentTo"} xref: UMLS:C1865923 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:602071"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011181 @@ -220368,7 +220331,7 @@ xref: Orphanet:280110 {source="OMIM:602080"} xref: UMLS:C0029401 {source="OMIM:602080"} xref: UMLS:C4016837 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C4085251 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005382 {source="DC-OMIM:602080", source="OMIM:602080"} ! bone Paget disease is_a: MONDO:0019707 {source="PMID:31633310"} ! primary osteolysis property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -220760,7 +220723,7 @@ xref: Orphanet:93963 {source="MONDO:equivalentObsolete"} xref: UMLS:C1865818 {source="OMIM:602124", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1865819 {source="OMIM:602124", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0000477 {source="DOID:0090040"} ! focal dystonia -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0044807 {source="DOID:0090040/inferred", source="MONDO:Redundant", source="OMIM:602124"} ! inherited dystonia property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -220847,7 +220810,7 @@ synonym: "ventriculomegaly with defects of the radius and kidney" EXACT [OMIM:60 xref: MESH:C566565 {source="MONDO:equivalentTo"} xref: OMIM:602200 {source="MONDO:equivalentTo"} xref: UMLS:C1865780 {source="OMIM:602200", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011207 @@ -220908,7 +220871,7 @@ name: mitochondrial intermembrane space protein Tim12, yeast, homolog of synonym: "mitochondrial intermembrane space protein Tim12, yeast, homolog of" EXACT [OMIM:602252] xref: OMIM:602252 {source="MONDO:equivalentTo"} xref: UMLS:C1865698 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:602252"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011211 @@ -220944,7 +220907,7 @@ synonym: "sensorineural hearing loss, retinal pigment epithelium lesions, discol xref: MESH:C566560 {source="MONDO:equivalentTo"} xref: OMIM:602340 {source="MONDO:equivalentTo"} xref: UMLS:C1865645 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:602340"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011213 @@ -220963,7 +220926,7 @@ xref: OMIM:602342 {source="MONDO:equivalentTo", source="Orphanet:487825"} xref: Orphanet:487825 {source="MONDO:equivalentTo"} xref: UMLS:C1865644 {source="OMIM:602342", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:487825", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0015159 {source="Orphanet:487825"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0019296 {source="Orphanet:487825"} ! subcutaneous tissue disorder relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare @@ -221145,7 +221108,7 @@ synonym: "Weyers ulnar ray/oligodactyly syndrome" EXACT [OMIM:602418] xref: MESH:C536696 {source="MONDO:equivalentTo"} xref: OMIM:602418 {source="MONDO:equivalentTo"} xref: UMLS:C1865566 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:602418"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10178/weyers-ulnar-rayoligodactyly-syndrome" xsd:anyURI {source="GARD:0010178"} [Term] @@ -221320,7 +221283,7 @@ synonym: "creases, infra-auricular cutaneous, with tall stature and advanced bon xref: MESH:C566543 {source="MONDO:equivalentTo"} xref: OMIM:602472 {source="MONDO:equivalentTo"} xref: UMLS:C1865360 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:602472"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011229 @@ -221362,7 +221325,7 @@ xref: NCIT:C84975 {source="EFO:0005895", source="MONDO:equivalentTo"} xref: OMIM:602475 {source="EFO:0005895", source="MONDO:equivalentTo", source="DOID:0060887"} xref: SCTID:90448008 {source="EFO:0005895", source="MONDO:equivalentTo"} xref: UMLS:C1865343 {source="OMIM:602475", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0003900 {source="DOID:0060887"} ! connective tissue disorder is_a: MONDO:0005172 {source="EFO:0005895"} ! skeletal system disorder @@ -221609,7 +221572,7 @@ synonym: "pseudoacromegaly with severe insulin resistance" EXACT [OMIM:602511] xref: MESH:C566531 {source="MONDO:equivalentTo"} xref: OMIM:602511 {source="MONDO:equivalentTo"} xref: UMLS:C1865284 {source="OMIM:602511", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011242 @@ -221741,7 +221704,7 @@ synonym: "jejunal atresia with renal adysplasia" EXACT [OMIM:602551] xref: MESH:C537567 {source="MONDO:equivalentTo"} xref: OMIM:602551 {source="MONDO:equivalentTo"} xref: UMLS:C1865209 {source="OMIM:602551", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9985/jejunal-atresia-with-renal-adysplasia" xsd:anyURI {source="GARD:0009985"} [Term] @@ -221793,7 +221756,7 @@ synonym: "microcephaly, macrotia, and mental retardation" EXACT DEPRECATED [OMIM xref: MESH:C566525 {source="MONDO:equivalentTo"} xref: OMIM:602555 {source="MONDO:equivalentTo"} xref: UMLS:C1865204 {source="OMIM:602555", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011251 @@ -221802,7 +221765,7 @@ synonym: "facial dysmorphism, cleft palate, hearing loss, and camptodactyly" EXA xref: MESH:C566524 {source="MONDO:equivalentTo"} xref: OMIM:602556 {source="MONDO:equivalentTo"} xref: UMLS:C1865203 {source="OMIM:602556", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011252 @@ -221851,7 +221814,7 @@ synonym: "brachydactyly, intraventricular septal defect, and deafness" EXACT [OM xref: MESH:C566521 {source="MONDO:equivalentTo"} xref: OMIM:602561 {source="MONDO:equivalentTo"} xref: UMLS:C1865182 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:602561"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011255 @@ -221879,7 +221842,7 @@ synonym: "emphysema, congenital, with deafness, penoscrotal web, and mental reta xref: MESH:C566519 {source="MONDO:equivalentTo"} xref: OMIM:602564 {source="MONDO:equivalentTo"} xref: UMLS:C1865180 {source="OMIM:602564", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011257 @@ -222020,7 +221983,7 @@ xref: Orphanet:1323 {source="MONDO:equivalentTo", source="OMIM:602612", source=" xref: SCTID:715986009 {source="MONDO:equivalentTo"} xref: UMLS:C1865133 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:602612"} xref: UMLS:C2931051 {source="Orphanet:1323", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0015161 {source="Orphanet:1323"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0018234 {source="MONDO:0018235-obsoleted"} ! dysostosis is_a: MONDO:0020158 {source="MONDO:0020169-obsoleted"} ! eyelids malposition disorder @@ -222032,7 +221995,7 @@ synonym: "skeletal dysplasia and progressive central nervous system degeneration xref: MESH:C566514 {source="MONDO:equivalentTo"} xref: OMIM:602613 {source="MONDO:equivalentTo"} xref: UMLS:C1865117 {source="MONDO:equivalentTo", source="OMIM:602613", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011264 @@ -222080,7 +222043,7 @@ xref: MESH:C566513 {source="MONDO:equivalentTo"} xref: OMIM:602639 {source="MONDO:equivalentTo"} xref: Orphanet:2227 {source="OMIM:602639"} xref: UMLS:C1865092 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:602639"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005486 {source="DC-OMIM:602639", source="OMIM:602639"} ! tooth agenesis [Term] @@ -222184,7 +222147,7 @@ synonym: "PSORS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602723] xref: DOID:0080475 {source="MONDO:equivalentTo"} xref: OMIM:602723 {source="MONDO:equivalentTo"} xref: UMLS:C1864497 {source="MONDO:equivalentTo", source="OMIM:602723", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005083 {source="DC-OMIM:602723", source="MONDO:Redundant", source="OMIM:602723"} ! psoriasis intersection_of: MONDO:0005083 ! psoriasis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16446 ! CARD14 @@ -222491,7 +222454,7 @@ synonym: "tumor suppressor Gene on chromosome type 11" EXACT [MONDORULE:2, OMIM: 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 +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -222552,7 +222515,7 @@ xref: DOID:0110014 {source="MONDO:equivalentTo"} xref: MESH:C566411 {source="MONDO:equivalentTo"} xref: OMIM:603075 {source="MONDO:equivalentTo", source="DOID:0110014"} xref: UMLS:C1864205 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:603075"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005150 {source="DC-OMIM:603075", source="DOID:0110014", source="OMIM:603075"} ! age-related macular degeneration property_value: confidence "1.4444444444444446" xsd:double property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -222609,7 +222572,7 @@ name: apraxia of eyelid opening synonym: "apraxia of eyelid opening" EXACT [OMIM:603119] xref: OMIM:603119 {source="MONDO:equivalentTo"} xref: UMLS:C1864184 {source="OMIM:603119", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011290 @@ -222619,7 +222582,7 @@ synonym: "dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microc xref: MESH:C566408 {source="MONDO:equivalentTo"} xref: OMIM:603133 {source="MONDO:equivalentTo"} xref: UMLS:C1864183 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:603133"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011291 @@ -222680,7 +222643,7 @@ xref: MESH:D003876 {source="https://orcid.org/0000-0003-1967-3726", source="MOND xref: OMIM:603165 {source="MONDO:equivalentTo"} xref: UMLS:C0011615 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:603165"} xref: UMLS:C1864155 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:603165"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0004980 {source="DC-OMIM:603165", source="OMIM:603165"} ! atopic eczema property_value: confidence "3.0" xsd:double property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -222819,7 +222782,7 @@ xref: MESH:C566397 {source="MONDO:equivalentTo"} xref: OMIM:603221 {source="MONDO:equivalentTo"} xref: UMLS:C1864111 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:603221"} is_a: MONDO:0001384 {source="DC-OMIM:603221", source="MESH:C566397", source="OMIM:603221"} ! myopia -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -223018,7 +222981,7 @@ name: long chain fatty acids, defect in transport of synonym: "long chain fatty acids, defect in TRANSPORT OF" RELATED [OMIM:603376] xref: OMIM:603376 {source="MONDO:equivalentTo"} xref: UMLS:C1863958 {source="OMIM:603376", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011311 @@ -223114,7 +223077,7 @@ synonym: "microcephaly, severe, with skeletal anomalies including posterior rib- xref: MESH:C566377 {source="MONDO:equivalentTo"} xref: OMIM:603394 {source="MONDO:equivalentTo"} xref: UMLS:C1863919 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:603394"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011318 @@ -223126,7 +223089,7 @@ synonym: "Tonoki syndrome" EXACT [OMIM:603396] xref: MESH:C536967 {source="MONDO:equivalentTo"} xref: OMIM:603396 {source="MONDO:equivalentTo"} xref: UMLS:C1863918 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:603396"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10219/tonoki-syndrome" xsd:anyURI {source="GARD:0010219"} [Term] @@ -223171,7 +223134,7 @@ synonym: "expansile bone lesions" EXACT [OMIM:603439] xref: MESH:C566375 {source="MONDO:equivalentTo"} xref: OMIM:603439 {source="MONDO:equivalentTo"} xref: UMLS:C1863880 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:603439"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011322 @@ -223180,7 +223143,7 @@ synonym: "Oroacral syndrome, Verloes-Koulischer type" EXACT [OMIM:603446] xref: MESH:C566374 {source="MONDO:equivalentTo"} xref: OMIM:603446 {source="MONDO:equivalentTo"} xref: UMLS:C1863879 {source="OMIM:603446", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011323 @@ -223196,7 +223159,7 @@ xref: Orphanet:1135 {source="MONDO:relatedTo", source="OMIM:603457"} xref: Orphanet:2250 {source="OMIM:603457"} xref: SCTID:720511000 {source="MONDO:equivalentTo"} xref: UMLS:C1863878 {source="OMIM:603457", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29090 {source="MONDO:mim2gene_medgen"} ! SMCHD1 [Term] @@ -223341,7 +223304,7 @@ synonym: "Dyserythropoiesis, congenital, with ultrastructurally normal erythrobl xref: OMIM:603529 {source="MONDO:equivalentTo"} xref: UMLS:C1863768 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3807235 {source="MONDO:equivalentTo", source="OMIM:603529"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -223548,7 +223511,7 @@ synonym: "microcephaly, facial abnormalities, micromelia, and mental retardation xref: MESH:C566361 {source="MONDO:equivalentTo"} xref: OMIM:603572 {source="MONDO:equivalentTo"} xref: UMLS:C1863702 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:603572"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011342 @@ -223598,7 +223561,7 @@ synonym: "parotitis, juvenile recurrent" EXACT [OMIM:603588] xref: MESH:C566359 {source="MONDO:equivalentTo"} xref: OMIM:603588 {source="MONDO:equivalentTo"} xref: UMLS:C1863691 {source="OMIM:603588", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011345 @@ -223607,7 +223570,7 @@ synonym: "facial dysmorphism, selective tooth agenesis, and choroid calcificatio xref: MESH:C567039 {source="MONDO:equivalentTo"} xref: OMIM:603589 {source="MONDO:equivalentTo"} xref: UMLS:C1970343 {source="OMIM:603589", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011346 @@ -223681,7 +223644,7 @@ synonym: "osteoma of cranial vault, familial" EXACT [OMIM:603600] xref: MESH:C566356 {source="MONDO:equivalentTo"} xref: OMIM:603600 {source="MONDO:equivalentTo"} xref: UMLS:C1863677 {source="OMIM:603600", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011350 @@ -223745,7 +223708,7 @@ synonym: "neuroendocrine carcinoma of salivary glands, sensorineural hearing los xref: MESH:C566352 {source="MONDO:equivalentTo"} xref: OMIM:603641 {source="MONDO:equivalentTo"} xref: UMLS:C1863649 {source="OMIM:603641", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011353 @@ -223754,7 +223717,7 @@ synonym: "atrial septal defect, secundum, with various cardiac and Noncardiac de xref: MESH:C566351 {source="MONDO:equivalentTo"} xref: OMIM:603642 {source="MONDO:equivalentTo"} xref: UMLS:C1863648 {source="OMIM:603642", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011354 @@ -223797,7 +223760,7 @@ synonym: "subungual exostoses" RELATED [GARD:0008280] xref: MESH:C535723 {source="MONDO:equivalentTo"} xref: OMIM:603656 {source="MONDO:equivalentTo"} xref: UMLS:C1863622 {source="OMIM:603656", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8280/dupuytren-subungual-exostosis" xsd:anyURI {source="GARD:0008280"} [Term] @@ -223807,7 +223770,7 @@ synonym: "eccrine syringofibroadenomatosis with eyelid abnormalities" EXACT [OMI xref: MESH:C566347 {source="MONDO:equivalentTo"} xref: OMIM:603669 {source="MONDO:equivalentTo"} xref: UMLS:C1863618 {source="MONDO:equivalentTo", source="OMIM:603669", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: disease_has_feature HP:0000492 ! Abnormal eyelid morphology relationship: disease_has_feature MONDO:0024246 ! syringofibroadenoma @@ -223818,7 +223781,7 @@ synonym: "blue nevi, familial multiple" EXACT [OMIM:603670] xref: MESH:C566346 {source="MONDO:equivalentTo"} xref: OMIM:603670 {source="MONDO:equivalentTo"} xref: UMLS:C1863617 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:603670"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: disease_has_feature MONDO:0006680 ! blue nevus [Term] @@ -224430,7 +224393,7 @@ xref: UMLS:C0410606 {source="DOID:90"} xref: UMLS:C2675551 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:603932"} xref: UMLS:C2676840 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:603932"} is_a: MONDO:0000812 {source="MESH:D055959"} ! vertebral column disorder -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: excluded_subClassOf MONDO:0000834 {source="DOID:90"} ! obsolete bone deterioration disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5633" xsd:anyURI @@ -224833,7 +224796,7 @@ synonym: "Car" RELATED [OMIM:604172] synonym: "Caronte" EXACT [OMIM:604172] xref: OMIM:604172 {source="MONDO:equivalentTo"} xref: UMLS:C1858724 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:604172"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011405 @@ -224866,7 +224829,7 @@ xref: MESH:C562858 {source="MONDO:equivalentTo"} xref: OMIM:604183 {source="MONDO:equivalentTo"} xref: SCTID:232262007 {source="MONDO:equivalentTo"} xref: UMLS:C0395886 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:604183"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -224939,7 +224902,7 @@ synonym: "Hirschsprung disease with heart defects, laryngeal anomalies, and prea xref: MESH:C565817 {source="MONDO:equivalentTo"} xref: OMIM:604211 {source="MONDO:equivalentTo"} xref: UMLS:C1858696 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:604211"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011411 @@ -225135,7 +225098,7 @@ synonym: "obesity, mental retardation, body asymmetry, and muscle weakness" RELA xref: MESH:C537964 {source="MONDO:equivalentTo"} xref: OMIM:604257 {source="MONDO:equivalentTo"} xref: UMLS:C1858661 {source="OMIM:604257", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8413/camera-marugo-cohen-syndrome" xsd:anyURI {source="GARD:0008413"} [Term] @@ -225463,7 +225426,7 @@ xref: MESH:C536030 {source="MONDO:equivalentTo"} xref: OMIM:604308 {source="MONDO:equivalentTo"} xref: Orphanet:99715 {source="MONDO:equivalentObsolete", source="OMIM:604308"} xref: UMLS:C1858556 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:604308"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0016663 ! overlapping connective tissue disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3603 {source="MONDO:mim2gene_medgen"} ! FBN1 property_value: confidence "50.99999999999993" xsd:double @@ -225495,7 +225458,7 @@ synonym: "anemia, congenital hypoplastic, with multiple congenital anomalies/men xref: MESH:C565796 {source="MONDO:equivalentTo"} xref: OMIM:604315 {source="MONDO:equivalentTo"} xref: UMLS:C1858537 {source="OMIM:604315", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011434 @@ -225616,7 +225579,7 @@ xref: UMLS:C0152249 {source="DOID:6543", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C0702166 {source="DOID:6543", source="MONDO:notFoundInDiseaseSubset", source="NCIT:C27195"} xref: UMLS:C1858506 {source="OMIM:604324", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0002406 {source="EFO:0003894", source="NCIT:C27195"} ! dermatitis -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0006607 {source="DOID:6543"} ! sebaceous gland disorder property_value: IAO:0000589 "acne (disease)" xsd:string @@ -225817,7 +225780,7 @@ synonym: "myoclonic epilepsy, congenital deafness, macular dystrophy, and psychi xref: MESH:C565786 {source="MONDO:equivalentTo"} xref: OMIM:604363 {source="MONDO:equivalentTo"} xref: UMLS:C1858478 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:604363"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -225974,7 +225937,7 @@ synonym: "ulnar ray dysgenesis with postaxial polydactyly and renal cystic dyspl xref: MESH:C565783 {source="MONDO:equivalentTo"} xref: OMIM:604380 {source="MONDO:equivalentTo"} xref: UMLS:C1858422 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:604380"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011454 @@ -225999,7 +225962,7 @@ synonym: "lissencephaly, familial, with cleft palate and cerebellar hypoplasia" xref: MESH:C565781 {source="MONDO:equivalentTo"} xref: OMIM:604382 {source="MONDO:equivalentTo"} xref: UMLS:C1858419 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:604382"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: disease_has_major_feature HP:0001339 ! Lissencephaly [Term] @@ -226224,7 +226187,7 @@ xref: MESH:C537655 {source="MONDO:equivalentTo"} xref: NCIT:C27540 {source="MONDO:equivalentTo"} xref: OMIM:604451 {source="DOID:4279", source="MONDO:equivalentTo"} xref: UMLS:C1304297 {source="NCIT:C27540", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:604451"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005341 {source="DC-OMIM:604451", source="DOID:4279", source="NCIT:C27540"} ! skin basal cell carcinoma property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9788/basal-cell-carcinoma-infundibulocystic" xsd:anyURI {source="GARD:0009788"} @@ -226489,7 +226452,7 @@ xref: OMIM:604625 {source="MONDO:equivalentTo"} xref: Orphanet:2227 {source="OMIM:604625"} xref: Orphanet:99798 {source="OMIM:604625"} xref: UMLS:C1970291 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:604625"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005486 {source="DC-OMIM:604625", source="MONDO:Redundant", source="OMIM:604625"} ! tooth agenesis intersection_of: MONDO:0005486 ! tooth agenesis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8623 ! PAX9 @@ -226506,7 +226469,7 @@ synonym: "Roca-Weidemann syndrome" RELATED [OMIM:604690] xref: MESH:C565755 {source="MONDO:equivalentTo"} xref: OMIM:604690 {source="MONDO:equivalentTo"} xref: UMLS:C1858182 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:604690"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011479 @@ -226627,7 +226590,7 @@ synonym: "polycystic bone disease" EXACT [OMIM:604771] xref: MESH:C536324 {source="MONDO:equivalentTo"} xref: OMIM:604771 {source="MONDO:equivalentTo"} xref: UMLS:C1858143 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:604771"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8571/polycystic-bone-disease" xsd:anyURI {source="GARD:0008571"} [Term] @@ -226842,7 +226805,7 @@ synonym: "mandibulofacial dysostosis syndrome, Bauru type" EXACT [OMIM:604830] xref: MESH:C565744 {source="MONDO:equivalentTo"} xref: OMIM:604830 {source="MONDO:equivalentTo"} xref: UMLS:C1858101 {source="OMIM:604830", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011493 @@ -226998,7 +226961,6 @@ is_a: MONDO:0005073 {source="Orphanet:64755"} ! melanocytic nevus is_a: MONDO:0015853 {source="Orphanet:64755"} ! deficient breast volume or number is_a: MONDO:0015950 {source="Orphanet:64755"} ! inherited skin tumor is_a: MONDO:0019755 ! developmental defect during embryogenesis -is_a: MONDO:0021147 ! disorder of development or morphogenesis relationship: has_characteristic MONDO:0021136 {source="MONDO:0017414"} ! rare property_value: confidence "0.125" xsd:double property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3856/becker-nevus-syndrome" xsd:anyURI {source="GARD:0003856"} @@ -227086,7 +227048,6 @@ xref: Orphanet:1665 {source="OMIM:605013"} xref: Orphanet:443162 {source="MONDO:equivalentTo"} xref: UMLS:C1857977 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:605013"} is_a: MONDO:0015660 ! sporadic fetal brain disruption sequence -is_a: MONDO:0021147 ! disorder of development or morphogenesis is_a: MONDO:0700116 {source="https://www.clinicalgenome.org/affiliation/40020/"} ! microcephaly with lissencephaly and/or hydranencephaly relationship: has_characteristic MONDO:0021136 ! rare relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17619 {source="MONDO:mim2gene_medgen"} ! NDE1 @@ -227141,7 +227102,7 @@ synonym: "diabetes mellitus, congenital autoimmune" EXACT [OMIM:605026] xref: MESH:C565730 {source="MONDO:equivalentTo"} xref: OMIM:605026 {source="MONDO:equivalentTo"} xref: UMLS:C1857958 {source="OMIM:605026", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -227169,7 +227130,7 @@ synonym: "Ldlc, mild elevation of" RELATED [OMIM:605028] synonym: "low density lipoprotein cholesterol, mild elevation of" EXACT [OMIM:605028] xref: OMIM:605028 {source="MONDO:equivalentTo"} xref: UMLS:C1857956 {source="OMIM:605028", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011510 @@ -227209,7 +227170,7 @@ synonym: "clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia" EX xref: MESH:C565729 {source="MONDO:equivalentTo"} xref: OMIM:605040 {source="MONDO:equivalentTo"} xref: UMLS:C1857942 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:605040"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011512 @@ -227270,7 +227231,7 @@ xref: Orphanet:1209 {source="MONDO:equivalentTo", source="OMIM:605067"} xref: SCTID:63042009 {source="MONDO:equivalentTo"} xref: UMLS:C0243002 {source="Orphanet:1209/e", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C85202", source="OMIM:605067", source="Orphanet:1209"} is_a: MONDO:0000471 {source="DOID:0080169", source="NCIT:C85202"} ! tricuspid valve disorder -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005453 {source="MESH:D018785", source="NCIT:C85202"} ! congenital heart disease is_a: MONDO:0020289 {source="Orphanet:1209"} ! congenital tricuspid malformation property_value: confidence "4.714285714285714" xsd:double @@ -227289,7 +227250,7 @@ synonym: "early response to neural induction gene" EXACT [OMIM:605105] synonym: "Erni" RELATED [OMIM:605105] xref: OMIM:605105 {source="MONDO:equivalentTo"} xref: UMLS:C1854633 {source="OMIM:605105", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011517 @@ -227775,7 +227736,7 @@ synonym: "frontoocular syndrome" EXACT [OMIM:605321] xref: MESH:C565340 {source="MONDO:equivalentTo"} xref: OMIM:605321 {source="MONDO:equivalentTo"} xref: UMLS:C1854405 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:605321"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011539 @@ -227949,7 +227910,7 @@ xref: Orphanet:450 {source="OMIM:605376"} xref: UMLS:C1415817 {source="MONDO:equivalentTo", source="OMIM:605376"} xref: UMLS:C1854334 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0000153 {source="DC-OMIM:605376"} ! transposition of the great arteries -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0018677 {source="DC-OMIM:605376", source="OMIM:605376"} ! visceral heterotaxy relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18292 {source="MONDO:mim2gene_medgen"} ! CFC1 property_value: confidence "2.249999999999999" xsd:double @@ -228028,7 +227989,7 @@ synonym: "fibromatosis, gingival, with hypertrichosis and mental retardation" EX xref: MESH:C565331 {source="MONDO:equivalentTo"} xref: OMIM:605400 {source="MONDO:equivalentTo"} xref: UMLS:C1854306 {source="OMIM:605400", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011551 @@ -228542,7 +228503,7 @@ synonym: "tetralogy of fallot syndrome, autosomal recessive" EXACT [OMIM:605618] xref: MESH:C565314 {source="MONDO:equivalentTo"} xref: OMIM:605618 {source="MONDO:equivalentTo"} xref: UMLS:C1854119 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:605618"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011575 @@ -228837,7 +228798,7 @@ xref: MESH:C565302 {source="MONDO:equivalentTo"} xref: OMIM:605727 {source="MONDO:equivalentTo"} xref: Orphanet:2794 {source="OMIM:605727"} xref: UMLS:C1854022 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:605727"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005349 {source="DC-OMIM:605727", source="MESH:C565302", source="OMIM:605727"} ! otosclerosis [Term] @@ -228907,7 +228868,7 @@ synonym: "anisomastia" EXACT [OMIM:605746] xref: MESH:C565299 {source="MONDO:equivalentTo"} xref: OMIM:605746 {source="MONDO:equivalentTo"} xref: UMLS:C1854013 {source="OMIM:605746", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011591 @@ -228961,7 +228922,7 @@ synonym: "gonadal dysgenesis, hypergonadotropic, 20 type, with short stature and synonym: "ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis" EXACT [OMIM:605756] xref: OMIM:605756 {source="MONDO:equivalentTo"} xref: UMLS:C3148970 {source="OMIM:605756", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011595 @@ -229468,7 +229429,7 @@ synonym: "arthropathy, erosive" EXACT [OMIM:605935] xref: MESH:C565273 {source="MONDO:equivalentTo"} xref: OMIM:605935 {source="MONDO:equivalentTo"} xref: UMLS:C1853829 {source="MONDO:equivalentTo", source="OMIM:605935", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011618 @@ -229477,7 +229438,7 @@ synonym: "liver fibrocystic disease and polydactyly" EXACT [OMIM:605944] xref: MESH:C565272 {source="MONDO:equivalentTo"} xref: OMIM:605944 {source="MONDO:equivalentTo"} xref: UMLS:C1853827 {source="OMIM:605944", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011619 @@ -229488,7 +229449,7 @@ synonym: "sparse hair, prominent nose, small mouth, micrognathia, cleft palate, xref: MESH:C536217 {source="MONDO:equivalentTo"} xref: OMIM:605945 {source="MONDO:equivalentTo"} xref: UMLS:C1853826 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:605945"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10078/crumpled-helices-and-small-mouth" xsd:anyURI {source="GARD:0010078"} [Term] @@ -229609,7 +229570,7 @@ synonym: "Aoch" RELATED [OMIM:606049] xref: MESH:C535656 {source="MONDO:equivalentTo"} xref: OMIM:606049 {source="MONDO:equivalentTo"} xref: UMLS:C1853757 {source="OMIM:606049", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10194/acromegaloid-features-overgrowth-cleft-palate-and-hernia" xsd:anyURI {source="GARD:0010194"} [Term] @@ -229968,7 +229929,7 @@ synonym: "baculum, congenital absence of" EXACT [OMIM:606174] synonym: "Os penis, congenital absence of" RELATED [OMIM:606174] xref: OMIM:606174 {source="MONDO:equivalentTo"} xref: UMLS:C1853565 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:606174"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011642 @@ -230042,7 +230003,7 @@ synonym: "laryngeal abductor paralysis with cerebellar ataxia and motor neuropat xref: MESH:C565252 {source="MONDO:equivalentTo"} xref: OMIM:606183 {source="MONDO:equivalentTo"} xref: UMLS:C1853556 {source="MONDO:equivalentTo", source="OMIM:606183", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011647 @@ -230184,7 +230145,7 @@ synonym: "mental retardation, microcephaly, growth retardation, JOINT contractur xref: MESH:C565246 {source="MONDO:equivalentTo"} xref: OMIM:606242 {source="MONDO:equivalentTo"} xref: UMLS:C1853480 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:606242"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011655 @@ -230242,7 +230203,7 @@ xref: MESH:C565240 {source="MONDO:equivalentTo"} xref: OMIM:606263 {source="MONDO:equivalentTo"} xref: Orphanet:280110 {source="OMIM:606263"} xref: UMLS:C1853473 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:606263"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005382 {source="DC-OMIM:606263", source="OMIM:606263"} ! bone Paget disease [Term] @@ -230297,7 +230258,7 @@ xref: MESH:C565237 {source="MONDO:equivalentTo"} xref: OMIM:606325 {source="MONDO:equivalentTo"} xref: Orphanet:450 {source="OMIM:606325"} xref: UMLS:C1853444 {source="OMIM:606325", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0018677 {source="DC-OMIM:606325", source="OMIM:606325"} ! visceral heterotaxy property_value: confidence "2.249999999999999" xsd:double @@ -230366,7 +230327,7 @@ xref: SCTID:192501004 {source="DOID:12399"} xref: SCTID:284524008 {source="DOID:12399"} xref: UMLS:C0030662 {source="NCIT:C94335", source="OMIM:606349", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="DOID:12399"} is_a: MONDO:0001162 {source="DOID:12399", source="NCIT:C94335"} ! impulse control disorder -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011663 @@ -230720,7 +230681,7 @@ synonym: "short stature, abnormal face, joint laxity, hernias, delayed bone age, xref: MESH:C536145 {source="MONDO:equivalentTo"} xref: OMIM:606527 {source="MONDO:equivalentTo"} xref: UMLS:C1847871 {source="OMIM:606527", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9979/megarbane-syndrome" xsd:anyURI {source="GARD:0009979"} [Term] @@ -231352,7 +231313,7 @@ synonym: "specific language impairment quantitative trait locus on chromosome 16 xref: OMIM:606711 {source="MONDO:equivalentTo"} xref: UMLS:C1847614 {source="OMIM:606711", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000724 {source="DC-OMIM:606711", source="OMIM:606711"} ! specific language impairment -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -231365,7 +231326,7 @@ synonym: "specific language impairment quantitative trait locus on chromosome 19 xref: OMIM:606712 {source="MONDO:equivalentTo"} xref: UMLS:C1847605 {source="OMIM:606712", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000724 {source="DC-OMIM:606712", source="OMIM:606712"} ! specific language impairment -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -231415,7 +231376,7 @@ synonym: "partial lipodystrophy, congenital cataracts, and neurodegeneration syn xref: OMIM:606721 {source="MONDO:equivalentTo"} xref: UMLS:C1847582 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3807567 {source="OMIM:606721", source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1527 {source="MONDO:mim2gene_medgen"} ! CAV1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -231728,7 +231689,7 @@ synonym: "peripheral arterial occlusive disease type 1" EXACT [MONDORULE:1, OMIM xref: MESH:C564658 {source="MONDO:equivalentTo"} xref: OMIM:606787 {source="MONDO:equivalentTo"} xref: UMLS:C1847493 {source="OMIM:606787", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011727 @@ -231875,7 +231836,7 @@ xref: MESH:C536389 {source="MONDO:equivalentTo"} xref: OMIM:606840 {source="MONDO:equivalentTo"} xref: UMLS:C1847399 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:606840"} xref: UMLS:C3149124 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:606840"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011734 @@ -231924,7 +231885,7 @@ synonym: "Cree mental retardation syndrome" EXACT DEPRECATED [OMIM:606851] xref: MESH:C564654 {source="MONDO:equivalentTo"} xref: OMIM:606851 {source="MONDO:equivalentTo"} xref: UMLS:C1847361 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:606851"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011737 @@ -232089,7 +232050,7 @@ synonym: "duodenojejunal atresia with volvulus, absent dorsal mesentery, and abs xref: MESH:C535722 {source="MONDO:equivalentTo"} xref: OMIM:606894 {source="MONDO:equivalentTo"} xref: UMLS:C1847196 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:606894"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9227/duodenojejunal-atresia-with-volvulus-absent-dorsal-mesentery-and-absent-superior-mesenteric-artery" xsd:anyURI {source="GARD:0009227"} [Term] @@ -232101,7 +232062,7 @@ synonym: "symphalangism, distal, with microdontia, dental pulp stones, and narro xref: MESH:C538148 {source="MONDO:equivalentTo"} xref: OMIM:606895 {source="MONDO:equivalentTo"} xref: UMLS:C1847185 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:606895"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8554/symphalangism-distal-with-microdontia-dental-pulp-stones-and-narrowed-zygomatic-arch" xsd:anyURI {source="GARD:0008554"} [Term] @@ -232198,7 +232159,7 @@ xref: UMLS:C0024117 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoun xref: UMLS:C1847014 {source="OMIM:606963", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1969833 {source="OMIM:606963", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2751329 {source="OMIM:606963", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005002 ! chronic obstructive pulmonary disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5166" xsd:anyURI @@ -232536,7 +232497,6 @@ xref: UMLS:C2751325 {source="Orphanet:168563", source="OMIM:607080", source="MON is_a: MONDO:0005151 ! endocrine system disorder is_a: MONDO:0010765 {source="MESH:C567773"} ! 46,XY complete gonadal dysgenesis is_a: MONDO:0020040 ! 46,XY disorder of sex development -is_a: MONDO:0021147 ! disorder of development or morphogenesis relationship: has_characteristic MONDO:0021136 ! rare relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2865 {source="MONDO:mim2gene_medgen"} ! DHH property_value: confidence "1.0498438571428572" xsd:double @@ -232837,7 +232797,7 @@ synonym: "Lel" RELATED [OMIM:607132] xref: MESH:C564620 {source="MONDO:equivalentTo"} xref: OMIM:607132 {source="MONDO:equivalentTo"} xref: UMLS:C1846721 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:607132"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011780 @@ -232849,7 +232809,7 @@ synonym: "specific language impairment quantitative trait locus on chromosome 13 xref: OMIM:607134 {source="MONDO:equivalentTo"} xref: UMLS:C1846719 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:607134"} is_a: MONDO:0000724 {source="DC-OMIM:607134", source="OMIM:607134"} ! specific language impairment -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -232908,7 +232868,7 @@ xref: MESH:D000793 {source="EFO:1000805", source="MONDO:equivalentTo", source="D xref: OMIM:607140 {source="MONDO:equivalentTo", source="DOID:13401"} xref: SCTID:86103006 {source="EFO:1000805"} xref: UMLS:C0002982 {source="MONDO:equivalentTo", source="OMIM:607140", source="MONDO:ncbi_mim2gene_medline", source="DOID:13401"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005283 {source="DOID:13401", source="MESH:D000793"} ! retinal disorder [Term] @@ -233120,7 +233080,6 @@ xref: Orphanet:99742 {source="MONDO:equivalentTo", source="OMIM:607196"} xref: SCTID:702437000 {source="MONDO:equivalentTo"} xref: UMLS:C1846648 {source="Orphanet:99742", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:607196"} is_a: MONDO:0000152 {source="DC-OMIM:607196", source="OMIM:607196"} ! thiamine-responsive dysfunction syndrome -is_a: MONDO:0021147 ! disorder of development or morphogenesis relationship: has_characteristic MONDO:0021136 ! rare relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14409 {source="MONDO:mim2gene_medgen"} ! SLC25A19 property_value: confidence "9.0" xsd:double @@ -233215,7 +233174,7 @@ synonym: "PEPS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607221] xref: MESH:C564605 {source="MONDO:equivalentTo"} xref: OMIM:607221 {source="MONDO:equivalentTo"} xref: UMLS:C1846609 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:607221"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011797 @@ -233430,7 +233389,7 @@ xref: OMIM:609143 {source="MONDO:equivalentObsolete"} xref: Orphanet:488265 {source="MONDO:equivalentTo"} xref: UMLS:C1709353 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="MONDO:preferredExternal", source="NCIT:C53970", source="OMIM:607278"} xref: UMLS:C1836723 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:609143"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0018230 {source="Orphanet:488265"} ! skeletal dysplasia is_a: MONDO:0800089 {source="PMID:31633310"} ! primary bone dysplasia with disorganized development of skeletal components relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7029 {source="MONDO:mim2gene_medgen"} ! MET @@ -233850,7 +233809,7 @@ name: streptococcus, group A, severity of infection by synonym: "streptococcus, group A, severity of infection by" EXACT [OMIM:607395] xref: OMIM:607395 {source="MONDO:equivalentTo"} xref: UMLS:C1846298 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:607395"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011826 @@ -234393,7 +234352,7 @@ synonym: "HSA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607504] xref: ICD10CM:G44.82 {source="MONDO:equivalentTo"} xref: OMIM:607504 {source="MONDO:equivalentTo"} xref: UMLS:C0393754 {source="OMIM:607504", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011849 @@ -234489,7 +234448,7 @@ synonym: "CCSPD" RELATED ABBREVIATION [OMIM:607539] xref: MESH:C564383 {source="MONDO:equivalentTo"} xref: OMIM:607539 {source="MONDO:equivalentTo"} xref: UMLS:C1843758 {source="OMIM:607539", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/35126 {source="MONDO:mim2gene_medgen"} ! BHLHA9 [Term] @@ -234499,7 +234458,7 @@ synonym: "secretory diarrhea, myopathy, and deafness" EXACT [OMIM:607540] xref: MESH:C564382 {source="MONDO:equivalentTo"} xref: OMIM:607540 {source="MONDO:equivalentTo"} xref: UMLS:C1843757 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:607540"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011855 @@ -234578,7 +234537,7 @@ synonym: "spastic paraplegia, ataxia, and mental retardation" EXACT DEPRECATED [ xref: MESH:C564378 {source="MONDO:equivalentTo"} xref: OMIM:607565 {source="MONDO:equivalentTo"} xref: UMLS:C1843661 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:607565"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011859 @@ -234610,7 +234569,7 @@ synonym: "Bhs" RELATED [OMIM:607578] synonym: "breath-holding Spells" EXACT [OMIM:607578] xref: OMIM:607578 {source="MONDO:equivalentTo"} xref: UMLS:C0476287 {source="OMIM:607578", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011862 @@ -234642,7 +234601,7 @@ synonym: "prostate cancer aggressiveness quantitative trait locus on chromosome synonym: "prostate cancer aggressiveness quantitative trait locus on chromosome type 19" EXACT [MONDORULE:2, OMIM:607592] xref: OMIM:607592 {source="MONDO:equivalentTo"} xref: UMLS:C1843533 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:607592"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -234697,7 +234656,7 @@ synonym: "microphthalmia with cyst, bilateral facial clefts, and limb anomalies" xref: MESH:C564370 {source="MONDO:equivalentTo"} xref: OMIM:607597 {source="MONDO:equivalentTo"} xref: UMLS:C1843492 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:607597"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011868 @@ -235169,7 +235128,7 @@ synonym: "cataract, congenital, with mental impairment and dentate gyrus atrophy xref: MESH:C564353 {source="MONDO:equivalentTo"} xref: OMIM:607674 {source="MONDO:equivalentTo"} xref: UMLS:C1843257 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:607674"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -235982,7 +235941,7 @@ xref: OMIM:607834 {source="MONDO:equivalentTo"} xref: UMLS:C0003467 {source="OMIM:607834", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C0679771 {source="OMIM:607834", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1842981 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005618 ! anxiety disorder relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11050 {source="MONDO:mim2gene_medgen"} ! SLC6A4 property_value: confidence "0.19047619047619047" xsd:double @@ -236692,7 +236651,7 @@ synonym: "Thai symphalangism syndrome" EXACT [OMIM:608028] xref: MESH:C564303 {source="MONDO:equivalentTo"} xref: OMIM:608028 {source="MONDO:equivalentTo"} xref: UMLS:C1842679 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:608028"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3557/thai-symphalangism-syndrome" xsd:anyURI {source="GARD:0003557"} [Term] @@ -236861,7 +236820,7 @@ synonym: "bile and pancreatic ducts, complete absence of" EXACT [OMIM:608063] xref: MESH:C564298 {source="MONDO:equivalentTo"} xref: OMIM:608063 {source="MONDO:equivalentTo"} xref: UMLS:C1842614 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:608063"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011959 @@ -237242,7 +237201,7 @@ xref: MESH:C564286 {source="MONDO:equivalentTo"} xref: OMIM:608118 {source="MONDO:equivalentTo"} xref: UMLS:C1842485 {source="OMIM:608118", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1842486 {source="OMIM:608118", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11013 {source="MONDO:mim2gene_medgen"} ! SLC30A2 [Term] @@ -237651,7 +237610,7 @@ synonym: "aspirin, resistance to Antithrombotic Effect of" RELATED [OMIM:608223] synonym: "aspirin, resistance to Cardioprotective Effect of" RELATED [OMIM:608223] xref: OMIM:608223 {source="MONDO:equivalentTo"} xref: UMLS:C1842372 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:608223"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0011994 @@ -237815,7 +237774,7 @@ xref: MESH:C564268 {source="MONDO:equivalentTo"} xref: OMIM:608244 {source="MONDO:equivalentTo"} xref: Orphanet:2794 {source="OMIM:608244"} xref: UMLS:C1842353 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:608244"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005349 {source="DC-OMIM:608244", source="MESH:C564268", source="OMIM:608244"} ! otosclerosis [Term] @@ -237836,7 +237795,7 @@ xref: SCTID:192396001 {source="DOID:599"} xref: SCTID:54587008 {source="DOID:599", source="MONDO:equivalentTo"} xref: UMLS:C0236801 {source="DOID:599", source="NCIT:C35284", source="OMIM:608251", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0003699 {source="DOID:599", source="EFO:1001918", source="MESH:C562465", source="NCIT:C35284"} ! phobic disorder -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0012001 @@ -237845,7 +237804,7 @@ synonym: "mandibulofacial dysostosis with ptosis, autosomal dominant" EXACT [OMI xref: MESH:C564267 {source="MONDO:equivalentTo"} xref: OMIM:608257 {source="MONDO:equivalentTo"} xref: UMLS:C1842349 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:608257"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0012002 @@ -237978,7 +237937,7 @@ synonym: "scimitar anomaly, multiple cardiac malformations, and craniofacial and xref: MESH:C564262 {source="MONDO:equivalentTo"} xref: OMIM:608281 {source="MONDO:equivalentTo"} xref: UMLS:C1842315 {source="OMIM:608281", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0012008 @@ -238043,7 +238002,7 @@ synonym: "MEF2A coronary artery disease" EXACT [MONDO:design_pattern, MONDO:patt xref: MESH:C564258 {source="MONDO:equivalentTo"} xref: OMIM:608320 {source="MONDO:equivalentTo"} xref: UMLS:C1842247 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:608320"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005010 {source="DC-OMIM:608320", source="MESH:C564258", source="MONDO:Redundant"} ! coronary artery disorder intersection_of: MONDO:0005010 ! coronary artery disorder intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6993 ! MEF2A @@ -238262,7 +238221,7 @@ xref: OMIM:608367 {source="MONDO:equivalentTo"} xref: UMLS:C2681855 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:608367"} xref: UMLS:C3888211 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0001384 {source="DC-OMIM:608367", source="OMIM:608367"} ! myopia -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0012022 @@ -238561,7 +238520,7 @@ xref: MESH:C563928 {source="MONDO:equivalentTo"} xref: OMIM:608445 {source="MONDO:equivalentTo"} xref: UMLS:C1838022 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:608445"} xref: UMLS:C4078288 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0012039 @@ -238717,7 +238676,7 @@ xref: MESH:C563922 {source="MONDO:equivalentTo"} xref: OMIM:608474 {source="MONDO:equivalentTo"} xref: UMLS:C1837972 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:608474"} is_a: MONDO:0001384 {source="DC-OMIM:608474", source="MESH:C563922", source="OMIM:608474"} ! myopia -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0012046 @@ -238740,7 +238699,7 @@ synonym: "alopecia universalis congenita, XY gonadal dysgenesis, and laryngomala xref: MESH:C563920 {source="MONDO:equivalentTo"} xref: OMIM:608509 {source="MONDO:equivalentTo"} xref: UMLS:C1837946 {source="MONDO:equivalentTo", source="OMIM:608509", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0012048 @@ -238765,7 +238724,7 @@ xref: UMLS:C0085159 {source="OMIM:608516", source="MONDO:notFoundInDiseaseSubset xref: UMLS:C1269683 {source="OMIM:608516", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0002009 {source="DC-OMIM:608516", source="DOID:1595"} ! major depressive disorder is_a: MONDO:0002050 {source="DOID:1595/inferred", source="NCIT:C34532"} ! depressive disorder -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: confidence "0.23106060606060574" xsd:double @@ -239121,7 +239080,7 @@ synonym: "brachial palsy, familial congenital" EXACT [OMIM:608585] xref: MESH:C563901 {source="MONDO:equivalentTo"} xref: OMIM:608585 {source="MONDO:equivalentTo"} xref: UMLS:C1837810 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:608585"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -239261,7 +239220,7 @@ synonym: "midface hypoplasia, obesity, developmental delay, and neonatal hypoton xref: MESH:C563896 {source="MONDO:equivalentTo"} xref: OMIM:608624 {source="MONDO:equivalentTo"} xref: UMLS:C1837730 {source="OMIM:608624", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0012077 @@ -240261,7 +240220,7 @@ xref: MESH:C563858 {source="MONDO:equivalentTo"} xref: OMIM:608787 {source="MONDO:equivalentTo"} xref: Orphanet:2794 {source="OMIM:608787"} xref: UMLS:C1837422 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:608787"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005349 {source="DC-OMIM:608787", source="MESH:C563858", source="OMIM:608787"} ! otosclerosis [Term] @@ -240329,9 +240288,7 @@ xref: OMIM:608800 {source="Orphanet:168593/e", source="MONDO:equivalentTo", sour xref: Orphanet:168593 {source="OMIM:608800", source="MONDO:equivalentTo"} xref: UMLS:C1837371 {source="OMIM:608800", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:168593"} is_a: MONDO:0005087 {source="MONDO:Redundant", source="Orphanet:168593"} ! respiratory system disorder -is_a: MONDO:0005151 ! endocrine system disorder is_a: MONDO:0020040 ! 46,XY disorder of sex development -is_a: MONDO:0021147 ! disorder of development or morphogenesis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015510"} ! rare relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12382 {source="MONDO:mim2gene_medgen"} ! TSPYL1 property_value: confidence "7.125" xsd:double @@ -240463,7 +240420,7 @@ synonym: "leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema" EXA xref: MESH:C563852 {source="MONDO:equivalentTo"} xref: OMIM:608809 {source="MONDO:equivalentTo"} xref: UMLS:C1837329 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:608809"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10065/leukoencephalopathy-arthritis-colitis-and-hypogammaglobulinema" xsd:anyURI {source="GARD:0010065"} [Term] @@ -240542,7 +240499,7 @@ synonym: "lateral semicircular canal malformation, familial, with external and m xref: MESH:C537879 {source="MONDO:equivalentTo"} xref: OMIM:608814 {source="MONDO:equivalentTo"} xref: UMLS:C1837314 {source="OMIM:608814", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10067/lateral-semicircular-canal-malformation-familial-with-external-and-middle-ear-abnormalities" xsd:anyURI {source="GARD:0010067"} [Term] @@ -240781,7 +240738,7 @@ synonym: "neuropathy, hereditary, with or without age-related macular degenerati xref: MESH:C563838 {source="MONDO:equivalentTo"} xref: OMIM:608895 {source="MONDO:equivalentTo"} xref: UMLS:C1837187 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:608895"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005150 {source="DC-OMIM:608895", source="MONDO:Redundant", source="OMIM:608895"} ! age-related macular degeneration intersection_of: MONDO:0005150 ! age-related macular degeneration intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3602 ! FBLN5 @@ -240988,7 +240945,7 @@ xref: SCTID:53458004 {source="DOID:9574"} xref: UMLS:C0008297 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:137914", source="DOID:9574", source="Orphanet:137914/e"} xref: UMLS:C0220723 {source="OMIM:608911", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="DOID:9574"} is_a: MONDO:0002232 {source="DOID:9574"} ! nasal cavity disorder -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0015503 {source="Orphanet:137914"} ! nose and cavum anomaly property_value: confidence "0.2608695652173916" xsd:double @@ -241182,7 +241139,6 @@ xref: UMLS:C2931752 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:30 is_a: MONDO:0005151 ! endocrine system disorder is_a: MONDO:0015846 {source="Orphanet:3097"} ! syndromic uterovaginal malformation is_a: MONDO:0020040 ! 46,XY disorder of sex development -is_a: MONDO:0021147 ! disorder of development or morphogenesis relationship: has_characteristic MONDO:0021136 ! rare relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12796 {source="MONDO:mim2gene_medgen"} ! WT1 property_value: confidence "8.375" xsd:double @@ -241266,7 +241222,7 @@ xref: MESH:C563816 {source="MONDO:equivalentTo"} xref: OMIM:608996 {source="MONDO:equivalentTo"} xref: Orphanet:619 {source="OMIM:608996"} xref: UMLS:C1837008 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:608996"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0019852 {source="DC-OMIM:608996", source="MESH:C563816", source="OMIM:608996"} ! inherited primary ovarian failure relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1092 {source="MONDO:mim2gene_medgen"} ! FOXL2 property_value: confidence "2.3325714285714296" xsd:double @@ -241455,7 +241411,7 @@ synonym: "mental retardation with optic atrophy, facial dysmorphism, microcephal xref: MESH:C563810 {source="MONDO:equivalentTo"} xref: OMIM:609037 {source="MONDO:equivalentTo"} xref: UMLS:C1836915 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:609037"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0012179 @@ -242048,7 +242004,7 @@ synonym: "umbilicus, familial flat" EXACT [OMIM:609164] xref: MESH:C537059 {source="MONDO:equivalentTo"} xref: OMIM:609164 {source="MONDO:equivalentTo"} xref: UMLS:C1836682 {source="MONDO:equivalentTo", source="OMIM:609164", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9490/flat-umbilicus-familial" xsd:anyURI {source="GARD:0009490"} [Term] @@ -242330,7 +242286,7 @@ synonym: "Dandy-Walker malformation with occipital cephalocele, autosomal domina xref: MESH:C567185 {source="MONDO:equivalentTo"} xref: OMIM:609222 {source="MONDO:equivalentTo"} xref: UMLS:C2674987 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:609222"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0012219 @@ -242437,7 +242393,7 @@ synonym: "Marie Unna-like scalp hypotrichosis" RELATED [OMIM:609250] xref: MESH:C563765 {source="MONDO:equivalentTo"} xref: OMIM:609250 {source="MONDO:equivalentTo"} xref: UMLS:C1836521 {source="OMIM:609250", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0012224 @@ -242494,7 +242450,7 @@ xref: MESH:C563761 {source="MONDO:equivalentTo"} xref: OMIM:609256 {source="MONDO:equivalentTo"} xref: UMLS:C1836506 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:609256"} is_a: MONDO:0001384 {source="DC-OMIM:609256", source="MESH:C563761", source="OMIM:609256"} ! myopia -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0012228 @@ -242505,7 +242461,7 @@ xref: MESH:C563760 {source="MONDO:equivalentTo"} xref: OMIM:609257 {source="MONDO:equivalentTo"} xref: UMLS:C1836505 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:609257"} is_a: MONDO:0001384 {source="DC-OMIM:609257", source="MESH:C563760", source="OMIM:609257"} ! myopia -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0012229 @@ -242516,7 +242472,7 @@ xref: MESH:C563759 {source="MONDO:equivalentTo"} xref: OMIM:609258 {source="MONDO:equivalentTo"} xref: UMLS:C1836504 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:609258"} is_a: MONDO:0001384 {source="DC-OMIM:609258", source="MESH:C563759", source="OMIM:609258"} ! myopia -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0012230 @@ -242527,7 +242483,7 @@ xref: MESH:C563758 {source="MONDO:equivalentTo"} xref: OMIM:609259 {source="MONDO:equivalentTo"} xref: UMLS:C1836503 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:609259"} is_a: MONDO:0001384 {source="DC-OMIM:609259", source="MESH:C563758", source="OMIM:609259"} ! myopia -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0012231 @@ -242579,7 +242535,7 @@ xref: MESH:C563756 {source="MONDO:equivalentTo"} xref: OMIM:609261 {source="MONDO:equivalentTo"} xref: UMLS:C1836484 {source="OMIM:609261", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000723 {source="DC-OMIM:609261", source="OMIM:609261"} ! stutter disorder -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0012233 @@ -242776,7 +242732,7 @@ synonym: "VVS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609289] xref: MESH:C536849 {source="MONDO:equivalentTo"} xref: OMIM:609289 {source="MONDO:equivalentTo"} xref: UMLS:C1836438 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:609289"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0012243 @@ -242787,7 +242743,7 @@ synonym: "Hoffman syndrome" RELATED [OMIM:609296] xref: MESH:C563745 {source="MONDO:equivalentTo"} xref: OMIM:609296 {source="MONDO:equivalentTo"} xref: UMLS:C1836437 {source="MONDO:equivalentTo", source="OMIM:609296", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0012244 @@ -243062,7 +243018,7 @@ synonym: "chromosome 18 pericentric inversion" EXACT [OMIM:609334] xref: MESH:C563734 {source="MONDO:equivalentTo"} xref: OMIM:609334 {source="MONDO:equivalentTo"} xref: UMLS:C1836305 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:609334"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease intersection_of: MONDO:0043678 ! chromosome inversion disorder intersection_of: disease_arises_from_structure CHR:9606-chr18 ! chromosome 18 (Human) @@ -243138,7 +243094,7 @@ synonym: "neuroepithelial cysts of third ventricle" RELATED [OMIM:609363] xref: MESH:C535966 {source="MONDO:equivalentTo"} xref: OMIM:609363 {source="MONDO:equivalentTo"} xref: UMLS:C0266481 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:609363"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9878/colloid-cysts-of-third-ventricle" xsd:anyURI {source="GARD:0009878"} [Term] @@ -243378,7 +243334,7 @@ synonym: "mental retardation, keratoconus, febrile seizures, and sinoatrial bloc xref: MESH:C537452 {source="MONDO:equivalentTo"} xref: OMIM:609438 {source="MONDO:equivalentTo"} xref: UMLS:C1836202 {source="OMIM:609438", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10064/mental-retardation-keratoconus-febrile-seizures-and-sinoatrial-block" xsd:anyURI {source="GARD:0010064"} [Term] @@ -243576,7 +243532,7 @@ xref: MESH:C536817 {source="MONDO:equivalentTo"} xref: OMIM:609465 {source="MONDO:equivalentTo", source="Orphanet:2725"} xref: Orphanet:2725 {source="MONDO:equivalentTo", source="OMIM:609465"} xref: UMLS:C1836121 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:609465"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0018454 ! dysostosis of genetic origin is_a: MONDO:0019054 ! congenital limb malformation property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10054/al-gazali-syndrome" xsd:anyURI {source="GARD:0010054"} @@ -243589,7 +243545,7 @@ synonym: "cleft palate, midfacial hypoplasia, triangular facies, and sensorineur xref: MESH:C536427 {source="MONDO:equivalentTo"} xref: OMIM:609466 {source="MONDO:equivalentTo"} xref: UMLS:C1836120 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:609466"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10063/cleft-palate-midfacial-hypoplasia-triangular-facies-and-sensorineural-hearing-loss" xsd:anyURI {source="GARD:0010063"} [Term] @@ -243601,7 +243557,7 @@ synonym: "nephropathy, progressive, with deafness" EXACT [OMIM:609469] xref: MESH:C563713 {source="MONDO:equivalentTo"} xref: OMIM:609469 {source="MONDO:equivalentTo"} xref: UMLS:C1836119 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:609469"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0012285 @@ -243651,7 +243607,7 @@ synonym: "iridogoniodysgenesis and skeletal anomalies" EXACT [OMIM:609515] xref: MESH:C535534 {source="MONDO:equivalentTo"} xref: OMIM:609515 {source="MONDO:equivalentTo"} xref: UMLS:C1836074 {source="OMIM:609515", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: disease_has_feature MONDO:0011119 {source="MONDO:cjm"} ! iridogoniodysgenesis property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10058/iridogoniodysgenesis-and-skeletal-anomalies" xsd:anyURI {source="GARD:0010058"} @@ -243729,7 +243685,7 @@ xref: OMIM:609529 {source="MONDO:equivalentTo"} xref: Orphanet:69127 {source="OMIM:609529"} xref: UMLS:C1836032 {source="OMIM:609529", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0001341 {source="DC-OMIM:609529", source="MESH:C536291", source="MONDO:Redundant"} ! selective IgA deficiency disease -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease intersection_of: MONDO:0001341 ! selective IgA deficiency disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18153 ! TNFRSF13B relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18153 {source="MONDO:mim2gene_medgen"} ! TNFRSF13B @@ -244256,7 +244212,7 @@ synonym: "major affective disorder 3, early onset" EXACT [OMIM:609633, OMIM:gene xref: MESH:C566501 {source="MONDO:equivalentTo"} xref: OMIM:609633 {source="MONDO:equivalentTo"} xref: UMLS:C1864994 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:609633"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0004985 {source="DC-OMIM:609633", source="MESH:C566501", source="MONDO:cjm"} ! bipolar disorder property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -244444,7 +244400,7 @@ xref: OMIM:609649 {source="MONDO:equivalentTo"} xref: SCTID:254677004 {source="MONDO:equivalentTo"} xref: UMLS:C1864801 {source="OMIM:609649", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C2266788 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0012329 @@ -244798,7 +244754,7 @@ synonym: "Pcfh" RELATED [OMIM:609808] xref: MESH:C565226 {source="MONDO:equivalentTo"} xref: OMIM:609808 {source="MONDO:equivalentTo"} xref: UMLS:C1853298 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:609808"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -244910,7 +244866,7 @@ synonym: "vasculitis, lymphocytic, cutaneous small vessel" EXACT [OMIM:609817] xref: MESH:C565222 {source="MONDO:equivalentTo"} xref: OMIM:609817 {source="MONDO:equivalentTo"} xref: UMLS:C1853293 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:609817"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0012353 @@ -245141,7 +245097,7 @@ synonym: "GBD2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609918] xref: MESH:C563687 {source="MONDO:equivalentTo"} xref: OMIM:609918 {source="MONDO:equivalentTo"} xref: UMLS:C1835925 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:609918"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005281 {source="DC-OMIM:609918", source="OMIM:609918"} ! gallbladder disorder [Term] @@ -245152,7 +245108,7 @@ synonym: "GBD3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609919] xref: MESH:C563686 {source="MONDO:equivalentTo"} xref: OMIM:609919 {source="MONDO:equivalentTo"} xref: UMLS:C1835924 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:609919"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005281 {source="DC-OMIM:609919", source="OMIM:609919"} ! gallbladder disorder property_value: confidence "4.999999999999999" xsd:double @@ -245287,7 +245243,7 @@ synonym: "brachyphalangy, polydactyly, and tibial aplasia/hypoplasia" EXACT [OMI xref: MESH:C537100 {source="MONDO:equivalentTo"} xref: OMIM:609945 {source="MONDO:equivalentTo"} xref: UMLS:C1864965 {source="OMIM:609945", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9893/brachyphalangy-polydactyly-and-tibial-aplasiahypoplasia" xsd:anyURI {source="GARD:0009893"} [Term] @@ -245561,7 +245517,7 @@ xref: MESH:C566490 {source="MONDO:equivalentTo"} xref: OMIM:609994 {source="MONDO:equivalentTo"} xref: UMLS:C1864941 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:609994"} is_a: MONDO:0001384 {source="DC-OMIM:609994", source="MESH:C566490", source="OMIM:609994"} ! myopia -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -245574,7 +245530,7 @@ xref: MESH:C566489 {source="MONDO:equivalentTo"} xref: OMIM:609995 {source="MONDO:equivalentTo"} xref: UMLS:C1864940 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:609995"} is_a: MONDO:0001384 {source="DC-OMIM:609995", source="MESH:C566489", source="OMIM:609995"} ! myopia -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -245585,7 +245541,7 @@ synonym: "arthrogryposis multiplex with deafness, inguinal hernias, and early de xref: MESH:C535381 {source="MONDO:equivalentTo"} xref: OMIM:610001 {source="MONDO:equivalentTo"} xref: UMLS:C1864939 {source="OMIM:610001", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9946/arthrogryposis-multiplex-with-deafness-inguinal-hernias-and-early-death" xsd:anyURI {source="GARD:0009946"} [Term] @@ -245776,7 +245732,7 @@ synonym: "brachydactyly, coloboma, and anterior segment dysgenesis" EXACT [OMIM: xref: MESH:C566484 {source="MONDO:equivalentTo"} xref: OMIM:610023 {source="MONDO:equivalentTo"} xref: UMLS:C1864901 {source="OMIM:610023", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0012398 @@ -246220,7 +246176,7 @@ synonym: "severe short stature, hyperphalangy of the index fingers, mental retar xref: MESH:C535947 {source="MONDO:equivalentTo"} xref: OMIM:610136 {source="MONDO:equivalentTo"} xref: UMLS:C1857830 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:610136"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10052/devriendt-syndrome" xsd:anyURI {source="GARD:0010052"} [Term] @@ -246282,7 +246238,7 @@ xref: OMIM:610149 {source="DOID:0110019", source="MONDO:equivalentTo"} xref: UMLS:C1857813 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:610149"} xref: UMLS:C1857814 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:610149"} xref: UMLS:C1857815 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:610149"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005150 {source="DC-OMIM:610149", source="DOID:0110019", source="MONDO:Redundant", source="OMIM:610149"} ! age-related macular degeneration intersection_of: MONDO:0005150 ! age-related macular degeneration intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9476 ! HTRA1 @@ -246476,7 +246432,7 @@ synonym: "KYPSC1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610170] xref: MESH:C565711 {source="MONDO:equivalentTo"} xref: OMIM:610170 {source="MONDO:equivalentTo"} xref: UMLS:C1857795 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:610170"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0012429 @@ -246962,7 +246918,7 @@ synonym: "esophagitis, eosinophilic, 1" EXACT [MONDO:Lexical, OMIM:610247] xref: OMIM:610247 {source="MONDO:equivalentTo"} xref: Orphanet:73247 {source="OMIM:610247"} xref: UMLS:C0341106 {source="OMIM:610247", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005361 {source="DC-OMIM:610247"} ! eosinophilic esophagitis property_value: confidence "1.094356261022928" xsd:double @@ -247023,7 +246979,7 @@ synonym: "Hangover, susceptibility to" RELATED [OMIM:610251] xref: OMIM:610251 {source="MONDO:equivalentTo"} xref: UMLS:C2608086 {source="OMIM:610251", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2674838 {source="OMIM:610251", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0021698 {source="OMIM:610251"} ! alcohol-related disorders relationship: disease_has_basis_in_disruption_of GO:0004029 ! aldehyde dehydrogenase (NAD+) activity relationship: has_characteristic PATO:0000389 ! acute @@ -247097,7 +247053,7 @@ synonym: "pyloric stenosis, infantile hypertrophic, 2" EXACT [MONDO:Lexical, OMI xref: MESH:C565208 {source="MONDO:equivalentTo"} xref: OMIM:610260 {source="MONDO:equivalentTo"} xref: UMLS:C1853228 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:610260"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0100239 {source="DC-OMIM:610260", source="MESH:C565208", source="OMIM:610260"} ! inherited hypertrophic pyloric stenosis property_value: confidence "3.8773052888279222" xsd:double @@ -247313,7 +247269,7 @@ xref: MESH:C565202 {source="MONDO:equivalentTo"} xref: OMIM:610320 {source="MONDO:equivalentTo"} xref: UMLS:C1853196 {source="OMIM:610320", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0001384 {source="DC-OMIM:610320", source="MESH:C565202", source="OMIM:610320"} ! myopia -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0012470 @@ -247384,7 +247340,7 @@ synonym: "right pulmonary artery, anomalous origin of, with ventricular septal d xref: MESH:C535681 {source="MONDO:equivalentTo"} xref: OMIM:610338 {source="MONDO:equivalentTo"} xref: UMLS:C1835910 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:610338"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10146/anomalous-origin-of-right-pulmonary-artery-familial" xsd:anyURI {source="GARD:0010146"} [Term] @@ -247687,7 +247643,7 @@ synonym: "preauricular Tag, isolated, autosomal dominant, type 1" EXACT [MONDORU xref: MESH:C566904 {source="MONDO:equivalentTo"} xref: OMIM:610420 {source="MONDO:equivalentTo"} xref: UMLS:C1968893 {source="OMIM:610420", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0012487 @@ -247820,7 +247776,7 @@ xref: HP:0012215 {source="MONDO:otherHierarchy"} xref: MESH:C566478 {source="MONDO:equivalentTo"} xref: OMIM:610441 {source="MONDO:equivalentTo"} xref: UMLS:C1864873 {source="OMIM:610441", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11020 {source="MONDO:mim2gene_medgen"} ! SLC34A2 property_value: IAO:0000589 "testicular microlithiasis (disease)" xsd:string @@ -248217,7 +248173,7 @@ xref: OMIM:610504 {source="MONDO:equivalentTo", source="DOID:0111144"} xref: SCTID:312974005 {source="MONDO:equivalentTo"} xref: UMLS:C0729264 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:610504"} is_a: MONDO:0002263 {source="DOID:0111144"} ! female reproductive system disorder -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1546 {source="MONDO:mim2gene_medgen"} ! SERPINH1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -248938,7 +248894,7 @@ xref: DOID:0110017 {source="MONDO:equivalentTo"} xref: MESH:C565196 {source="MONDO:equivalentTo"} xref: OMIM:610698 {source="DOID:0110017", source="MONDO:equivalentTo"} xref: UMLS:C1853147 {source="MONDO:equivalentTo", source="OMIM:610698", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005150 {source="DC-OMIM:610698", source="DOID:0110017", source="MONDO:Redundant", source="OMIM:610698"} ! age-related macular degeneration intersection_of: MONDO:0005150 ! age-related macular degeneration intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4883 ! CFH @@ -249146,7 +249102,7 @@ name: iris pattern synonym: "iris pattern" EXACT [OMIM:610744] xref: OMIM:610744 {source="MONDO:equivalentTo"} xref: UMLS:C1853115 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:610744"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0012551 @@ -249375,7 +249331,7 @@ xref: DOID:0080206 {source="MONDO:equivalentTo"} xref: MESH:C563661 {source="MONDO:equivalentTo"} xref: OMIM:610805 {source="MONDO:equivalentTo", source="DOID:0080206"} xref: UMLS:C1835826 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:610805"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0019719 {source="DOID:0080206", source="MONDO:Redundant", source="OMIM:610805"} ! congenital anomaly of kidney and urinary tract intersection_of: MONDO:0019719 ! congenital anomaly of kidney and urinary tract intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29043 ! DSTYK @@ -249438,7 +249394,7 @@ synonym: "Polyosteolysis/hyperostosis syndrome" RELATED [GARD:0010456] xref: MESH:C563658 {source="MONDO:equivalentTo"} xref: OMIM:610830 {source="MONDO:equivalentTo"} xref: UMLS:C1835818 {source="MONDO:equivalentTo", source="OMIM:610830", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10456/polyosteolysishyperostosis-syndrome" xsd:anyURI {source="GARD:0010456"} [Term] @@ -249572,7 +249528,7 @@ synonym: "sphenoethmoidal encephalomeningocele, agenesis of the corpus callosum, xref: MESH:C567055 {source="MONDO:equivalentTo"} xref: OMIM:610871 {source="MONDO:equivalentTo"} xref: UMLS:C1970485 {source="OMIM:610871", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9695/sakoda-complex" xsd:anyURI {source="GARD:0009695"} [Term] @@ -249808,7 +249764,7 @@ xref: MESH:C565757 {source="MONDO:equivalentTo"} xref: OMIM:610926 {source="MONDO:equivalentTo"} xref: Orphanet:99798 {source="OMIM:610926"} xref: UMLS:C1858210 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:610926"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005486 {source="DC-OMIM:610926", source="OMIM:610926"} ! tooth agenesis property_value: confidence "3.0" xsd:double @@ -249865,7 +249821,7 @@ xref: MESH:C567045 {source="MONDO:equivalentTo"} xref: OMIM:610947 {source="MONDO:equivalentTo"} xref: Orphanet:94062 {source="OMIM:610947"} xref: UMLS:C1970440 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:610947"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005010 {source="DC-OMIM:610947", source="MESH:C567045", source="MONDO:Redundant"} ! coronary artery disorder intersection_of: MONDO:0005010 ! coronary artery disorder intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6698 ! LRP6 @@ -251024,7 +250980,7 @@ synonym: "major affective disorder 4" EXACT [OMIM:611247] xref: MESH:C567073 {source="MONDO:equivalentTo"} xref: OMIM:611247 {source="MONDO:equivalentTo"} xref: UMLS:C1970943 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:611247"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0004985 {source="DC-OMIM:611247", source="MESH:C567073", source="MONDO:cjm"} ! bipolar disorder [Term] @@ -251319,7 +251275,7 @@ synonym: "visceral Neuromyopathy, familial, with pseudoobstruction, Megaduodenum xref: MESH:C548078 {source="MONDO:equivalentTo"} xref: OMIM:611376 {source="MONDO:equivalentTo"} xref: UMLS:C1969653 {source="OMIM:611376", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0012658 @@ -251360,7 +251316,7 @@ xref: DOID:0110021 {source="MONDO:equivalentTo"} xref: MESH:C566958 {source="MONDO:equivalentTo"} xref: OMIM:611378 {source="MONDO:equivalentTo", source="DOID:0110021"} xref: UMLS:C1969651 {source="OMIM:611378", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005150 {source="DC-OMIM:611378", source="DOID:0110021", source="MONDO:Redundant", source="OMIM:611378"} ! age-related macular degeneration intersection_of: MONDO:0005150 ! age-related macular degeneration intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1318 ! C3 @@ -251526,7 +251482,7 @@ name: Tented eyebrows synonym: "Tented eyebrows" EXACT [OMIM:611426] xref: OMIM:611426 {source="MONDO:equivalentTo"} xref: UMLS:C1969624 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:611426"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0012669 @@ -251550,7 +251506,6 @@ xref: UMLS:C1969623 {source="OMIM:611431", source="MONDO:equivalentTo", source=" is_a: MONDO:0019289 {source="Orphanet:137605"} ! hyperpigmentation of the skin is_a: MONDO:0019755 ! developmental defect during embryogenesis is_a: MONDO:0020297 {source="https://orcid.org/0000-0001-6671-2252", source="https://orcid.org/0000-0001-7736-9672", source="https://orcid.org/0000-0001-8200-1733", source="https://orcid.org/0000-0001-9069-3901", source="https://orcid.org/0000-0002-0146-4881", source="https://orcid.org/0000-0002-2635-9172", source="https://orcid.org/0000-0002-2827-6880", source="https://orcid.org/0000-0002-5791-6891", source="https://orcid.org/0000-0002-6559-2858", source="https://orcid.org/0000-0003-1348-7738", source="https://orcid.org/0000-0003-1618-9269", source="https://orcid.org/0000-0003-1719-7228", source="https://orcid.org/0000-0003-2840-1511", source="https://orcid.org/0000-0003-2890-7483"} ! Noonan syndrome and Noonan-related syndrome -is_a: MONDO:0021147 ! disorder of development or morphogenesis relationship: has_characteristic MONDO:0021136 ! rare relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20249 {source="MONDO:mim2gene_medgen"} ! SPRED1 property_value: confidence "8.375" xsd:double @@ -251592,7 +251547,7 @@ xref: OMIM:611456 {source="MONDO:equivalentTo"} xref: Orphanet:862 {source="OMIM:611456"} xref: UMLS:C1969617 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:611456"} is_a: MONDO:0003233 {source="DC-OMIM:611456", source="MESH:C566949", source="OMIM:611456"} ! essential tremor -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -251618,7 +251573,7 @@ xref: UMLS:C0006739 {source="MONDO:notFoundInDiseaseSubset", source="DOID:10211" xref: UMLS:C0008350 {source="MONDO:equivalentTo"} xref: UMLS:C0947622 {source="MONDO:directSiblingOf", source="NCIT:C122822"} xref: UMLS:C1969115 {source="OMIM:611465", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005281 {source="DC-OMIM:611465", source="DOID:10211", source="MONDO:Redundant", source="NCIT:C122822/inferred", source="OMIM:611465"} ! gallbladder disorder is_a: MONDO:0006026 {source="EFO:0004799"} ! urinary bladder disorder relationship: disease_has_location UBERON:0002110 {source="EFO:0000784"} ! gall bladder @@ -251652,7 +251607,7 @@ xref: DOID:0110022 {source="MONDO:equivalentTo"} xref: MESH:C566935 {source="MONDO:equivalentTo"} xref: OMIM:611488 {source="MONDO:equivalentTo", source="DOID:0110022"} xref: UMLS:C1969108 {source="OMIM:611488", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005150 {source="DC-OMIM:611488", source="DOID:0110022", source="MONDO:Redundant", source="OMIM:611488"} ! age-related macular degeneration intersection_of: MONDO:0005150 ! age-related macular degeneration intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11850 ! TLR4 @@ -251906,7 +251861,7 @@ synonym: "major affective disorder 5" EXACT [OMIM:611535] xref: MESH:C567074 {source="MONDO:equivalentTo"} xref: OMIM:611535 {source="MONDO:equivalentTo"} xref: UMLS:C1970944 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:611535"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0004985 {source="DC-OMIM:611535", source="MESH:C567074", source="MONDO:cjm"} ! bipolar disorder [Term] @@ -251919,7 +251874,7 @@ synonym: "major affective disorder 6" EXACT [OMIM:611536] xref: MESH:C567075 {source="MONDO:equivalentTo"} xref: OMIM:611536 {source="MONDO:equivalentTo"} xref: UMLS:C1970945 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:611536"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0004985 {source="DC-OMIM:611536", source="MESH:C567075", source="MONDO:cjm"} ! bipolar disorder [Term] @@ -251977,7 +251932,7 @@ xref: MESH:C566921 {source="MONDO:equivalentTo"} xref: OMIM:611548 {source="MONDO:equivalentTo"} xref: Orphanet:619 {source="OMIM:611548"} xref: UMLS:C1969060 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:611548"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0019852 {source="DC-OMIM:611548", source="MESH:C566921", source="OMIM:611548"} ! inherited primary ovarian failure intersection_of: MONDO:0019852 ! inherited primary ovarian failure intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22448 ! NOBOX @@ -252121,7 +252076,7 @@ xref: MESH:C566914 {source="MONDO:equivalentTo"} xref: OMIM:611571 {source="MONDO:equivalentTo"} xref: Orphanet:2794 {source="OMIM:611571"} xref: UMLS:C1969046 {source="OMIM:611571", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005349 {source="DC-OMIM:611571", source="MESH:C566914", source="OMIM:611571"} ! otosclerosis [Term] @@ -252133,7 +252088,7 @@ xref: MESH:C566913 {source="MONDO:equivalentTo"} xref: OMIM:611572 {source="MONDO:equivalentTo"} xref: Orphanet:2794 {source="OMIM:611572"} xref: UMLS:C1969044 {source="OMIM:611572", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005349 {source="DC-OMIM:611572", source="MESH:C566913", source="OMIM:611572"} ! otosclerosis [Term] @@ -252423,7 +252378,7 @@ synonym: "DYTCA" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611694] xref: MESH:C567131 {source="MONDO:equivalentTo"} xref: OMIM:611694 {source="MONDO:equivalentTo"} xref: UMLS:C2673697 {source="OMIM:611694", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0012713 @@ -252640,7 +252595,7 @@ synonym: "short stature, Facial Dysmorphism, Severe brachydactyly, and syndactyl xref: MESH:C567093 {source="MONDO:equivalentTo"} xref: OMIM:611733 {source="MONDO:equivalentTo"} xref: UMLS:C2673203 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:611733"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10568/dauwerse-peters-syndrome" xsd:anyURI {source="GARD:0010568"} [Term] @@ -252868,7 +252823,7 @@ synonym: "tremor, hereditary essential, and idiopathic normal pressure hydroceph xref: MESH:C567519 {source="MONDO:equivalentTo"} xref: OMIM:611808 {source="MONDO:equivalentTo"} xref: UMLS:C2678494 {source="OMIM:611808", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_characteristic MONDO:0700005 ! idiopathic [Term] @@ -253261,7 +253216,7 @@ synonym: "mesomelic dysplasia, camera type" EXACT [OMIM:611886] xref: MESH:C567503 {source="MONDO:equivalentTo"} xref: OMIM:611886 {source="MONDO:equivalentTo"} xref: UMLS:C2678472 {source="MONDO:equivalentTo", source="OMIM:611886", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0012750 @@ -253612,7 +253567,7 @@ xref: DOID:0110023 {source="MONDO:equivalentTo"} xref: MESH:C567450 {source="MONDO:equivalentTo"} xref: OMIM:611953 {source="MONDO:equivalentTo", source="DOID:0110023"} xref: UMLS:C2677774 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:611953"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005150 {source="DC-OMIM:611953", source="DOID:0110023", source="MONDO:Redundant", source="OMIM:611953"} ! age-related macular degeneration intersection_of: MONDO:0005150 ! age-related macular degeneration intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2475 ! CST3 @@ -253683,7 +253638,7 @@ synonym: "Stevenson-Carey syndrome" EXACT [OMIM:611961] xref: MESH:C567446 {source="MONDO:equivalentTo"} xref: OMIM:611961 {source="MONDO:equivalentTo"} xref: UMLS:C2677763 {source="OMIM:611961", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0012773 @@ -253692,7 +253647,7 @@ synonym: "Hunter-Macdonald syndrome" EXACT [OMIM:611962] xref: MESH:C567445 {source="MONDO:equivalentTo"} xref: OMIM:611962 {source="MONDO:equivalentTo"} xref: UMLS:C2677745 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:611962"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0012774 @@ -253928,7 +253883,7 @@ synonym: "pyloric stenosis, infantile hypertrophic, 3" EXACT [MONDO:Lexical, OMI xref: MESH:C567435 {source="MONDO:equivalentTo"} xref: OMIM:612017 {source="MONDO:equivalentTo"} xref: UMLS:C2677588 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:612017"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0100239 {source="DC-OMIM:612017", source="MESH:C567435", source="OMIM:612017"} ! inherited hypertrophic pyloric stenosis property_value: confidence "3.8773052888279222" xsd:double @@ -254195,7 +254150,7 @@ synonym: "hypophosphatemic rickets and hyperparathyroidism" EXACT [OMIM:612089] xref: MESH:C567423 {source="MONDO:equivalentTo"} xref: OMIM:612089 {source="MONDO:equivalentTo"} xref: UMLS:C2677524 {source="OMIM:612089", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0012796 @@ -254229,7 +254184,7 @@ xref: MESH:C567421 {source="MONDO:equivalentTo"} xref: OMIM:612096 {source="MONDO:equivalentTo"} xref: Orphanet:2794 {source="OMIM:612096"} xref: UMLS:C2677515 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:612096"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005349 {source="DC-OMIM:612096", source="MESH:C567421", source="OMIM:612096"} ! otosclerosis [Term] @@ -254239,7 +254194,7 @@ synonym: "deafness, unilateral, with delayed endolymphatic hydrops" EXACT [OMIM: xref: MESH:C567420 {source="MONDO:equivalentTo"} xref: OMIM:612097 {source="MONDO:equivalentTo"} xref: UMLS:C2677512 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:612097"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0012799 @@ -254488,7 +254443,7 @@ xref: OMIM:612160 {source="MONDO:equivalentTo"} xref: ONCOTREE:AFH {source="MONDO:equivalentTo"} xref: Orphanet:569164 {source="MONDO:equivalentTo"} xref: UMLS:C1266127 {source="NCIT:C6494", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:612160"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005509 {source="MESH:C563181/inferred"} ! histiocytoma relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2345 {source="MONDO:mim2gene_medgen"} ! CREB1 property_value: confidence "6.142857142857143" xsd:double @@ -254578,7 +254533,7 @@ synonym: "diastasis recti and weakness of the linea alba" EXACT [OMIM:612198] xref: MESH:C567402 {source="MONDO:equivalentTo"} xref: OMIM:612198 {source="MONDO:equivalentTo"} xref: UMLS:C2677303 {source="OMIM:612198", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0012815 @@ -255623,7 +255578,7 @@ xref: MESH:C567351 {source="MONDO:equivalentTo"} xref: OMIM:612310 {source="MONDO:equivalentTo"} xref: Orphanet:619 {source="OMIM:612310"} xref: UMLS:C2676742 {source="OMIM:612310", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0019852 {source="DC-OMIM:612310", source="MESH:C567351", source="OMIM:612310"} ! inherited primary ovarian failure intersection_of: MONDO:0019852 ! inherited primary ovarian failure intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24669 ! FIGLA @@ -255713,7 +255668,7 @@ xref: ICD10CM:L73.1 {source="MONDO:equivalentTo"} xref: MESH:C563016 {source="MONDO:equivalentTo"} xref: OMIM:612318 {source="MONDO:equivalentTo"} xref: UMLS:C0549150 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:612318"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24431 {source="MONDO:mim2gene_medgen"} ! KRT75 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -255968,7 +255923,7 @@ synonym: "major affective disorder-8, susceptibility to" EXACT [OMIM:612357, OMI xref: MESH:C567530 {source="MONDO:equivalentTo"} xref: OMIM:612357 {source="MONDO:equivalentTo"} xref: UMLS:C2700439 {source="OMIM:612357", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0004985 {source="DC-OMIM:612357", source="MESH:C567530", source="MONDO:cjm"} ! bipolar disorder property_value: confidence "4.999999999999999" xsd:double property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -256046,7 +256001,7 @@ synonym: "major affective disorder-7, susceptibility to" EXACT [OMIM:612371, OMI xref: MESH:C567529 {source="MONDO:equivalentTo"} xref: OMIM:612371 {source="MONDO:equivalentTo"} xref: UMLS:C2700438 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:612371"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0004985 {source="DC-OMIM:612371", source="MESH:C567529", source="MONDO:Redundant", source="MONDO:cjm"} ! bipolar disorder intersection_of: MONDO:0004985 ! bipolar disorder intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12801 ! XBP1 @@ -256065,7 +256020,7 @@ synonym: "major affective disorder-9, susceptibility to" EXACT [OMIM:612372, OMI xref: MESH:C567531 {source="MONDO:equivalentTo"} xref: OMIM:612372 {source="MONDO:equivalentTo"} xref: UMLS:C2700440 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:612372"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0004985 {source="DC-OMIM:612372", source="MESH:C567531", source="MONDO:cjm"} ! bipolar disorder property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -256644,7 +256599,7 @@ synonym: "skeletal defects, genital hypoplasia, and mental retardation" EXACT DE xref: MESH:C567306 {source="MONDO:equivalentTo"} xref: OMIM:612447 {source="MONDO:equivalentTo"} xref: UMLS:C2676231 {source="MONDO:equivalentTo", source="OMIM:612447", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12930 {source="MONDO:mim2gene_medgen"} ! ZBTB16 [Term] @@ -256656,7 +256611,7 @@ synonym: "presbycusis 1" RELATED [OMIM:612448] xref: MESH:C567305 {source="MONDO:equivalentTo"} xref: OMIM:612448 {source="MONDO:equivalentTo"} xref: UMLS:C2676230 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:612448"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005562 {source="DC-OMIM:612448"} ! age-related hearing impairment [Term] @@ -256845,7 +256800,7 @@ xref: MESH:C567288 {source="MONDO:equivalentTo"} xref: OMIM:612514 {source="MONDO:equivalentTo"} xref: UMLS:C2675874 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:612514"} is_a: MONDO:0000724 {source="DC-OMIM:612514", source="OMIM:612514"} ! specific language impairment -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0012918 @@ -256944,7 +256899,7 @@ synonym: "pyloric stenosis, infantile hypertrophic, 5" EXACT [MONDO:Lexical, OMI xref: MESH:C567283 {source="MONDO:equivalentTo"} xref: OMIM:612525 {source="MONDO:equivalentTo"} xref: UMLS:C2675862 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:612525"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0100239 {source="DC-OMIM:612525", source="MESH:C567283", source="OMIM:612525"} ! inherited hypertrophic pyloric stenosis property_value: confidence "3.8773052888279222" xsd:double @@ -257044,7 +256999,7 @@ xref: MESH:C567279 {source="MONDO:equivalentTo"} xref: OMIM:612529 {source="DOID:0110060", source="MONDO:equivalentTo"} xref: Orphanet:100033 {source="OMIM:612529"} xref: UMLS:C2675858 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:612529"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0015048 {source="Orphanet:100033/btnt"} ! amelogenesis imperfecta type 2 is_a: MONDO:0019507 {source="DOID:0110060", source="MESH:C567279", source="MONDO:Redundant", source="OMIM:612529"} ! amelogenesis imperfecta intersection_of: MONDO:0019507 ! amelogenesis imperfecta @@ -257195,7 +257150,7 @@ xref: MESH:C567259 {source="MONDO:equivalentTo"} xref: OMIM:612554 {source="MONDO:equivalentTo"} xref: UMLS:C2675523 {source="OMIM:612554", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0001384 {source="DC-OMIM:612554", source="MESH:C567259", source="OMIM:612554"} ! myopia -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -258464,7 +258419,7 @@ xref: MESH:C567193 {source="MONDO:equivalentTo"} xref: OMIM:612717 {source="MONDO:equivalentTo"} xref: UMLS:C2675180 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:612717"} is_a: MONDO:0001384 {source="DC-OMIM:612717", source="MESH:C567193", source="OMIM:612717"} ! myopia -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0012996 @@ -258518,7 +258473,7 @@ synonym: "faciocardiomelic syndrome" EXACT [OMIM:612731] xref: MESH:C567176 {source="MONDO:equivalentTo"} xref: OMIM:612731 {source="MONDO:equivalentTo"} xref: UMLS:C2674798 {source="OMIM:612731", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0012999 @@ -258640,7 +258595,7 @@ synonym: "hypotonia, seizures, and precocious puberty" EXACT [OMIM:612777] xref: MESH:C567566 {source="MONDO:equivalentTo"} xref: OMIM:612777 {source="MONDO:equivalentTo"} xref: UMLS:C2748586 {source="MONDO:equivalentTo", source="OMIM:612777", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0013005 @@ -258756,7 +258711,7 @@ synonym: "Megarbane-Jalkh syndrome" EXACT [OMIM:612785] xref: MESH:C548071 {source="MONDO:equivalentTo"} xref: OMIM:612785 {source="MONDO:equivalentTo"} xref: UMLS:C2748555 {source="OMIM:612785", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10689/megarbane-jalkh-syndrome" xsd:anyURI {source="GARD:0010689"} [Term] @@ -259314,7 +259269,7 @@ synonym: "Marfanoid habitus and specific language and learning disabilities" REL xref: MESH:C567864 {source="MONDO:equivalentTo"} xref: OMIM:612917 {source="MONDO:equivalentTo"} xref: UMLS:C2752043 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:612917"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0013038 @@ -259749,7 +259704,7 @@ synonym: "microcephaly, growth retardation, cataract, hearing loss, and unusual xref: MESH:C567849 {source="MONDO:equivalentTo"} xref: OMIM:612947 {source="MONDO:equivalentTo"} xref: UMLS:C2751870 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:612947"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0013055 @@ -259762,7 +259717,7 @@ synonym: "Stargardt macular degeneration, absent or hypoplastic corpus callosum, xref: MESH:C548086 {source="MONDO:equivalentTo"} xref: OMIM:612948 {source="MONDO:equivalentTo"} xref: UMLS:C2751864 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:612948"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10683/stargardt-macular-degeneration-absent-or-hypoplastic-corpus-callosum-mental-retardation-and-dysmorphic-features" xsd:anyURI {source="GARD:0010683"} [Term] @@ -259996,7 +259951,7 @@ xref: MESH:C567838 {source="MONDO:equivalentTo"} xref: OMIM:612964 {source="MONDO:equivalentTo"} xref: Orphanet:619 {source="OMIM:612964"} xref: UMLS:C2751825 {source="MONDO:equivalentTo", source="OMIM:612964", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0019852 {source="DC-OMIM:612964", source="MESH:C567838", source="OMIM:612964"} ! inherited primary ovarian failure intersection_of: MONDO:0019852 ! inherited primary ovarian failure intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7983 ! NR5A1 @@ -260062,7 +260017,7 @@ synonym: "presbycusis 2" RELATED [OMIM:612976] xref: MESH:C567834 {source="MONDO:equivalentTo"} xref: OMIM:612976 {source="MONDO:equivalentTo"} xref: UMLS:C2751814 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:612976"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005562 {source="DC-OMIM:612976"} ! age-related hearing impairment [Term] @@ -260239,7 +260194,7 @@ synonym: "Santos syndrome" EXACT [OMIM:613005] xref: MESH:C567819 {source="MONDO:equivalentTo"} xref: OMIM:613005 {source="MONDO:equivalentTo"} xref: UMLS:C2751698 {source="OMIM:613005", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0013078 @@ -260613,7 +260568,7 @@ xref: NCIT:C34664 {source="MONDO:equivalentTo"} xref: SCTID:73415002 {source="MONDO:equivalentTo"} xref: UMLS:C0018781 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C34664"} xref: UMLS:C2751629 {source="OMIM:613035", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005365 {source="EFO:1001254", source="MESH:D006317/inferred", source="NCIT:C34664"} ! hearing loss disorder relationship: excluded_subClassOf MONDO:0003847 ! hereditary disease @@ -262429,7 +262384,7 @@ xref: MESH:C567706 {source="MONDO:equivalentTo"} xref: OMIM:613211 {source="MONDO:equivalentTo", source="DOID:0110061"} xref: Orphanet:100033 {source="OMIM:613211"} xref: UMLS:C2750771 {source="OMIM:613211", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0015048 {source="Orphanet:100033/btnt"} ! amelogenesis imperfecta type 2 is_a: MONDO:0019507 {source="DOID:0110061", source="MESH:C567706", source="MONDO:Redundant", source="OMIM:613211"} ! amelogenesis imperfecta intersection_of: MONDO:0019507 ! amelogenesis imperfecta @@ -262640,7 +262595,7 @@ xref: OMIM:613229 {source="DOID:0050587", source="MONDO:equivalentTo"} xref: SCTID:17155009 {source="MONDO:equivalentTo"} xref: UMLS:C0040953 {source="NCIT:C94336", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:613229"} is_a: MONDO:0001162 {source="DOID:0050587", source="NCIT:C94336"} ! impulse control disorder -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20297 {source="MONDO:mim2gene_medgen"} ! SLITRK1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -262719,7 +262674,7 @@ name: Pseudopili annulati synonym: "Pseudopili annulati" EXACT [OMIM:613241] xref: OMIM:613241 {source="MONDO:equivalentTo"} xref: UMLS:C3150463 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:613241"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0013195 @@ -263149,7 +263104,7 @@ xref: MESH:C567652 {source="MONDO:equivalentTo"} xref: OMIM:613291 {source="MONDO:equivalentTo"} xref: Orphanet:449262 {source="MONDO:equivalentObsolete"} xref: UMLS:C2750087 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613291"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10906 {source="MONDO:mim2gene_medgen"} ! SLC10A2 property_value: confidence "2.3325714285714296" xsd:double property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -263935,7 +263890,7 @@ synonym: "Birbeck granule deficiency" EXACT [OMIM:613393, OMIM:genemap2] synonym: "Birbeck granules, absence of" RELATED [OMIM:613393] xref: OMIM:613393 {source="MONDO:equivalentTo"} xref: UMLS:C3150657 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613393"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17935 {source="MONDO:mim2gene_medgen"} ! CD207 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -264134,7 +264089,7 @@ synonym: "esophagitis, eosinophilic, 2" EXACT [MONDO:Lexical, OMIM:613412] xref: OMIM:613412 {source="MONDO:equivalentTo"} xref: Orphanet:73247 {source="OMIM:613412"} xref: UMLS:C3150679 {source="OMIM:613412", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005361 {source="DC-OMIM:613412"} ! eosinophilic esophagitis property_value: confidence "1.094356261022928" xsd:double @@ -265302,7 +265257,6 @@ is_a: MONDO:0005151 ! endocrine system disorder is_a: MONDO:0017969 ! 46,XY disorder of sex development of endocrine origin is_a: MONDO:0018479 {source="Orphanet:95699"} ! congenital adrenal hyperplasia is_a: MONDO:0019593 {source="Orphanet:95699"} ! 46,XX disorder of sex development induced by fetal androgens excess -is_a: MONDO:0021147 ! disorder of development or morphogenesis relationship: has_characteristic MONDO:0021136 ! rare relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9208 {source="MONDO:mim2gene_medgen"} ! POR @@ -265441,7 +265395,7 @@ synonym: "early repolarization associated with ventricular fibrillation" EXACT [ synonym: "early repolarization syndrome" RELATED [OMIM:613601] xref: OMIM:613601 {source="MONDO:equivalentTo"} xref: UMLS:C3150852 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613601"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0013319 @@ -265449,7 +265403,7 @@ name: chromosome 4Q32.1-q32.2 triplication syndrome synonym: "chromosome 4Q32.1-q32.2 triplication syndrome" EXACT [OMIM:613603] xref: OMIM:613603 {source="MONDO:equivalentTo"} xref: UMLS:C3150857 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613603"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0016955 {source="https://orcid.org/0000-0002-4142-7153"} ! partial duplication of the long arm of chromosome 4 [Term] @@ -265668,7 +265622,7 @@ name: agenesis of the corpus callosum and congenital lymphedema synonym: "agenesis of the corpus callosum and congenital lymphedema" EXACT [OMIM:613623] xref: OMIM:613623 {source="MONDO:equivalentTo"} xref: UMLS:C3150887 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613623"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0013331 @@ -265700,7 +265654,7 @@ synonym: "Tsukahara syndrome" RELATED [OMIM:613627] xref: OMIM:613627 {source="MONDO:equivalentTo"} xref: SCTID:719162001 {source="MONDO:equivalentTo"} xref: UMLS:C3150890 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613627"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0013333 @@ -265710,7 +265664,7 @@ synonym: "odontoid hypoplasia" EXACT [OMIM:613628] xref: NCIT:C86969 {source="MONDO:equivalentTo"} xref: OMIM:613628 {source="MONDO:equivalentTo"} xref: UMLS:C1846439 {source="NCIT:C86969", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:613628"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005497 {source="NCIT:C86969"} ! bone development disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015328"} ! rare @@ -265740,7 +265694,7 @@ synonym: "Tst1" RELATED [OMIM:613636] synonym: "tuberculin skin test reactivity, absence of" EXACT [OMIM:613636, OMIM:genemap2] xref: OMIM:613636 {source="MONDO:equivalentTo"} xref: UMLS:C3150892 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:613636"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -266098,7 +266052,7 @@ synonym: "MRAMS" RELATED DEPRECATED [MONDO:Lexical, OMIM:613671] xref: OMIM:613671 {source="MONDO:equivalentTo"} xref: Orphanet:562559 {source="MONDO:equivalentTo"} xref: UMLS:C3150924 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613671"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29256 {source="MONDO:mim2gene_medgen"} ! SOBP [Term] @@ -266629,7 +266583,7 @@ synonym: "supernumerary der(22)t(8-22) syndrome" EXACT [OMIM:613700, OMIM:genema synonym: "supernumerary der(22)t(8;22) syndrome" EXACT [OMIM:613700] xref: OMIM:613700 {source="MONDO:equivalentTo"} xref: UMLS:C3150966 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613700"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -267181,7 +267135,7 @@ xref: UMLS:C3151055 {source="OMIM:613743", source="MONDO:equivalentTo", source=" is_a: MONDO:0005151 ! endocrine system disorder is_a: MONDO:0005495 {source="MONDO:Entailed", source="Orphanet:168558", source="Orphanet:168558/inferred"} ! adrenal gland disorder is_a: MONDO:0017969 ! 46,XY disorder of sex development of endocrine origin -is_a: MONDO:0021147 ! disorder of development or morphogenesis +is_a: MONDO:0021147 {source="https://orcid.org/0000-0001-5208-3432"} ! disorder of development or morphogenesis relationship: excluded_subClassOf MONDO:0015129 {source="Orphanet:168558"} ! chronic primary adrenal insufficiency relationship: has_characteristic MONDO:0021136 {source="MONDO:0015971"} ! rare relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2590 {source="MONDO:mim2gene_medgen"} ! CYP11A1 @@ -267244,7 +267198,7 @@ synonym: "visceral heterotaxy caused by mutation in ACVR2B" EXACT [MONDO:design_ xref: OMIM:613751 {source="MONDO:equivalentTo"} xref: Orphanet:450 {source="OMIM:613751"} xref: UMLS:C3151057 {source="OMIM:613751", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0018677 {source="DC-OMIM:613751", source="MONDO:Redundant", source="OMIM:613751"} ! visceral heterotaxy intersection_of: MONDO:0018677 ! visceral heterotaxy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/174 ! ACVR2B @@ -267310,7 +267264,7 @@ xref: DOID:0110018 {source="MONDO:equivalentTo"} xref: MESH:C563674 {source="MONDO:equivalentTo"} xref: OMIM:613757 {source="DOID:0110018", source="MONDO:equivalentTo"} xref: UMLS:C3151060 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613757"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005150 {source="DC-OMIM:613757", source="DOID:0110018", source="MONDO:Redundant", source="OMIM:613757"} ! age-related macular degeneration intersection_of: MONDO:0005150 ! age-related macular degeneration intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18286 ! RAX2 @@ -267519,7 +267473,7 @@ synonym: "macular Degeneration, age-related, type 8" EXACT [MONDORULE:1, OMIM:61 xref: DOID:0110020 {source="MONDO:equivalentTo"} xref: OMIM:613778 {source="MONDO:equivalentTo", source="DOID:0110020"} xref: UMLS:C3151070 {source="MONDO:equivalentTo", source="OMIM:613778", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005150 {source="DC-OMIM:613778", source="DOID:0110020", source="MONDO:Redundant", source="OMIM:613778"} ! age-related macular degeneration intersection_of: MONDO:0005150 ! age-related macular degeneration intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/32685 ! ARMS2 @@ -267597,7 +267551,7 @@ synonym: "macular Degeneration, age-related, type 12" EXACT [MONDORULE:2, OMIM:6 xref: DOID:0110024 {source="MONDO:equivalentTo"} xref: OMIM:613784 {source="MONDO:equivalentTo", source="DOID:0110024"} xref: UMLS:C3151079 {source="OMIM:613784", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005150 {source="DC-OMIM:613784", source="DOID:0110024", source="MONDO:Redundant", source="OMIM:613784"} ! age-related macular degeneration intersection_of: MONDO:0005150 ! age-related macular degeneration intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2558 ! CX3CR1 @@ -268532,7 +268486,7 @@ name: fucosyltransferase 6 deficiency synonym: "fucosyltransferase 6 deficiency" EXACT [OMIM:613852, OMIM:genemap2] xref: OMIM:613852 {source="MONDO:equivalentTo"} xref: UMLS:C3151219 {source="OMIM:613852", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4017 {source="MONDO:mim2gene_medgen"} ! FUT6 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -268756,7 +268710,7 @@ synonym: "Hirschsprung disease, cardiac defects, and autonomic dysfunction" EXAC xref: MESH:C563939 {source="MONDO:equivalentTo"} xref: OMIM:613870 {source="MONDO:equivalentTo"} xref: UMLS:C3151237 {source="OMIM:613870", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3146 {source="MONDO:mim2gene_medgen"} ! ECE1 [Term] @@ -268977,7 +268931,7 @@ synonym: "OBHD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613886] xref: MESH:C563938 {source="MONDO:equivalentTo"} xref: OMIM:613886 {source="MONDO:equivalentTo"} xref: UMLS:C3151303 {source="OMIM:613886", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8032 {source="MONDO:mim2gene_medgen"} ! NTRK2 [Term] @@ -268995,7 +268949,7 @@ synonym: "TDRD7 cataract (disease)" EXACT [MONDO:patterns/disease_series_by_gene xref: DOID:0110247 {source="MONDO:equivalentTo"} xref: OMIM:613887 {source="DOID:0110247", source="MONDO:equivalentTo"} xref: UMLS:C3151304 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613887"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005129 {source="DC-OMIM:613887", source="DOID:0110247", source="OMIM:613887"} ! cataract intersection_of: MONDO:0005129 ! cataract intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30831 ! TDRD7 @@ -269067,7 +269021,7 @@ synonym: "lipodystrophy, partial, acquired, associated with C3 nephritic Factor" synonym: "lipodystrophy, partial, acquired, with LOW complement component C3, with or without glomerulonephritis" RELATED [MONDO:Lexical, OMIM:613913] xref: OMIM:613913 {source="MONDO:equivalentTo"} xref: UMLS:C3151347 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613913"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0013489 @@ -269207,7 +269161,7 @@ synonym: "Okt4 epitope deficiency" EXACT [OMIM:613949] synonym: "T4 epitope deficiency" RELATED [OMIM:613949] xref: OMIM:613949 {source="MONDO:equivalentTo"} xref: UMLS:C3151379 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613949"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1678 {source="MONDO:mim2gene_medgen"} ! CD4 [Term] @@ -269425,7 +269379,7 @@ synonym: "MYP19" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613969] xref: OMIM:613969 {source="MONDO:equivalentTo"} xref: UMLS:C3151410 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613969"} is_a: MONDO:0001384 {source="DC-OMIM:613969", source="OMIM:613969"} ! myopia -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0013509 @@ -269485,7 +269439,7 @@ synonym: "TNCY" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613977] xref: OMIM:613977 {source="MONDO:equivalentTo"} xref: Orphanet:280615 {source="OMIM:613977"} xref: UMLS:C3151421 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613977"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4832 {source="MONDO:mim2gene_medgen"} ! HBG2 [Term] @@ -269935,7 +269889,7 @@ synonym: "protein Z deficiency" EXACT [OMIM:614024] synonym: "protein z deficiency" EXACT [OMIM:614024, OMIM:genemap2] xref: OMIM:614024 {source="MONDO:equivalentTo"} xref: UMLS:C3151465 {source="OMIM:614024", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9460 {source="MONDO:mim2gene_medgen"} ! PROZ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -269999,7 +269953,7 @@ xref: MESH:C564200 {source="MONDO:equivalentTo"} xref: OMIM:614034 {source="MONDO:equivalentTo"} xref: Orphanet:562509 {source="MONDO:equivalentTo"} xref: UMLS:C1841651 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614034"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0017754 {source="Orphanet:562509"} ! inborn disorder of porphyrin metabolism relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5013 {source="MONDO:mim2gene_medgen"} ! HMOX1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -270134,7 +270088,7 @@ xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:614044 {source="MONDO:equivalentTo"} xref: SCTID:190953007 {source="MONDO:equivalentTo"} xref: UMLS:C0268417 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614044"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9475 {source="MONDO:mim2gene_medgen"} ! PRSS1 [Term] @@ -270252,7 +270206,7 @@ synonym: "naa deficiency" RELATED [OMIM:614063] synonym: "NACED" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614063] xref: OMIM:614063 {source="MONDO:equivalentTo"} xref: UMLS:C3279716 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614063"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26742 {source="MONDO:mim2gene_medgen"} ! NAT8L [Term] @@ -270587,7 +270541,7 @@ synonym: "hypohaptoglobinemia" EXACT [OMIM:614081, OMIM:genemap2] xref: OMIM:614081 {source="MONDO:equivalentTo"} xref: UMLS:C3279786 {source="MONDO:equivalentTo", source="OMIM:614081", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C3279787 {source="OMIM:614081", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5141 {source="MONDO:mim2gene_medgen"} ! HP property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -270817,7 +270771,7 @@ name: plasma fibronectin deficiency synonym: "plasma fibronectin deficiency" EXACT [OMIM:614101] xref: OMIM:614101 {source="MONDO:equivalentTo"} xref: UMLS:C2675436 {source="OMIM:614101", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3778 {source="MONDO:mim2gene_medgen"} ! FN1 [Term] @@ -271426,7 +271380,7 @@ synonym: "MYP20" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614166] xref: OMIM:614166 {source="MONDO:equivalentTo"} xref: UMLS:C3279996 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614166"} is_a: MONDO:0001384 {source="DC-OMIM:614166", source="OMIM:614166"} ! myopia -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0013604 @@ -271439,7 +271393,7 @@ synonym: "ZNF644 myopia (disease)" EXACT [MONDO:patterns/disease_series_by_gene] xref: OMIM:614167 {source="MONDO:equivalentTo"} xref: UMLS:C3279997 {source="OMIM:614167", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0001384 {source="DC-OMIM:614167", source="MONDO:Redundant", source="OMIM:614167"} ! myopia -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease intersection_of: MONDO:0001384 ! myopia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29222 ! ZNF644 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29222 {source="MONDO:mim2gene_medgen"} ! ZNF644 @@ -271700,7 +271654,7 @@ synonym: "craniofacial anomalies and anterior segment dysgenesis syndrome" EXACT xref: OMIM:614195 {source="MONDO:equivalentTo"} xref: UMLS:C1857964 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3280099 {source="MONDO:equivalentTo", source="OMIM:614195"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12723 {source="MONDO:mim2gene_medgen"} ! VSX1 [Term] @@ -272230,7 +272184,7 @@ synonym: "hyperuricemic nephropathy, familial juvenile, 3" RELATED [MONDO:Lexica xref: OMIM:614227 {source="MONDO:equivalentTo"} xref: UMLS:C3280216 {source="OMIM:614227", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000608 {source="DC-OMIM:614227", source="OMIM:614227"} ! familial juvenile hyperuricemic nephropathy -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0013644 @@ -272594,7 +272548,7 @@ synonym: "APUG" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614262] synonym: "arthrogryposis, Perthes disease, and upward gaze palsy" EXACT [MONDO:Lexical, OMIM:614262] xref: OMIM:614262 {source="MONDO:equivalentTo"} xref: UMLS:C3280309 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614262"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18591 {source="MONDO:mim2gene_medgen"} ! NEK9 [Term] @@ -272674,7 +272628,7 @@ xref: MESH:C566640 {source="MONDO:equivalentTo"} xref: OMIM:614278 {source="MONDO:equivalentTo"} xref: UMLS:C1866472 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3280315 {source="OMIM:614278", source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9040 {source="MONDO:mim2gene_medgen"} ! PLA2G7 property_value: IAO:0000589 "platelet-activating factor acetylhydrolase deficiency (disease)" xsd:string @@ -272700,7 +272654,6 @@ is_a: MONDO:0005151 ! endocrine system disorder is_a: MONDO:0010765 {source="DC-OMIM:614279", source="MESH:C564109", source="OMIM:614279"} ! 46,XY complete gonadal dysgenesis is_a: MONDO:0017969 ! 46,XY disorder of sex development of endocrine origin is_a: MONDO:0019597 ! 46,XY disorder of sex development due to isolated 17,20-lyase deficiency -is_a: MONDO:0021147 ! disorder of development or morphogenesis relationship: has_characteristic MONDO:0021136 ! rare property_value: confidence "0.24971428571428578" xsd:double property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -273004,7 +272957,7 @@ synonym: "CIAT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614306] synonym: "cognitive impairment with or without cerebellar ataxia" EXACT CLINGEN_PREFERRED [MONDO:Lexical, OMIM:614306] xref: OMIM:614306 {source="MONDO:equivalentTo"} xref: UMLS:C3280415 {source="MONDO:equivalentTo", source="OMIM:614306", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10596 {source="MONDO:mim2gene_medgen"} ! SCN8A [Term] @@ -274002,7 +273955,7 @@ synonym: "GCTR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614400] synonym: "glucocorticoid therapy, response to" EXACT [MONDO:Lexical, OMIM:614400] xref: OMIM:614400 {source="MONDO:equivalentTo"} xref: UMLS:C3280689 {source="OMIM:614400", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18713 {source="MONDO:mim2gene_medgen"} ! GLCCI1 [Term] @@ -274049,7 +274002,6 @@ xref: OMIM:614407 {source="Orphanet:329332/e", source="MONDO:equivalentTo", sour xref: Orphanet:329332 {source="MONDO:equivalentTo", source="OMIM:614407"} xref: UMLS:C3280692 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614407"} is_a: MONDO:0015159 {source="Orphanet:329332"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability -is_a: MONDO:0021147 ! disorder of development or morphogenesis relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:329332"} ! syndromic intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare property_value: confidence "8.333333333333334" xsd:double @@ -274261,7 +274213,7 @@ xref: OMIM:614429 {source="MONDO:equivalentTo"} xref: Orphanet:1480 {source="OMIM:614429"} xref: UMLS:C3280777 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614429"} is_a: MONDO:0002070 {source="DC-OMIM:614429", source="MONDO:Redundant", source="OMIM:614429"} ! ventricular septal defect -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease intersection_of: MONDO:0002070 ! ventricular septal defect intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4173 ! GATA4 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4173 {source="MONDO:mim2gene_medgen"} ! GATA4 @@ -274278,7 +274230,7 @@ synonym: "GATA4 atrioventricular septal defect" EXACT [MONDO:design_pattern, MON xref: OMIM:614430 {source="MONDO:equivalentTo"} xref: Orphanet:98722 {source="OMIM:614430"} xref: UMLS:C3280781 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614430"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0020290 {source="DC-OMIM:614430", source="MONDO:Redundant", source="OMIM:614430"} ! familial atrioventricular septal defect intersection_of: MONDO:0020290 ! familial atrioventricular septal defect intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4173 ! GATA4 @@ -274298,7 +274250,7 @@ xref: OMIM:614431 {source="MONDO:equivalentTo"} xref: Orphanet:1480 {source="OMIM:614431"} xref: UMLS:C3280783 {source="OMIM:614431", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0002070 {source="DC-OMIM:614431", source="MONDO:Redundant", source="OMIM:614431"} ! ventricular septal defect -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease intersection_of: MONDO:0002070 ! ventricular septal defect intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1987 ! CITED2 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1987 {source="MONDO:mim2gene_medgen"} ! CITED2 @@ -274316,7 +274268,7 @@ xref: OMIM:614432 {source="MONDO:equivalentTo"} xref: Orphanet:1480 {source="OMIM:614432"} xref: UMLS:C3280785 {source="OMIM:614432", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0002070 {source="DC-OMIM:614432", source="MONDO:Redundant", source="OMIM:614432"} ! ventricular septal defect -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease intersection_of: MONDO:0002070 ! ventricular septal defect intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2488 ! NKX2-5 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2488 {source="MONDO:mim2gene_medgen"} ! NKX2-5 @@ -274783,7 +274735,7 @@ synonym: "GATA6 atrioventricular septal defect" EXACT [MONDO:design_pattern, MON xref: OMIM:614474 {source="MONDO:equivalentTo"} xref: Orphanet:98722 {source="OMIM:614474"} xref: UMLS:C3280939 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614474"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0020290 {source="DC-OMIM:614474", source="MONDO:Redundant", source="OMIM:614474"} ! familial atrioventricular septal defect intersection_of: MONDO:0020290 ! familial atrioventricular septal defect intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4174 ! GATA6 @@ -275151,7 +275103,7 @@ synonym: "PMRED" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614501] synonym: "psychomotor retardation, epilepsy, and craniofacial dysmorphism" EXACT [MONDO:Lexical, OMIM:614501] xref: OMIM:614501 {source="MONDO:equivalentTo"} xref: UMLS:C3281055 {source="OMIM:614501", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30587 {source="MONDO:mim2gene_medgen"} ! SNIP1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -275270,7 +275222,7 @@ name: encephalomyopathy, mitochondrial, due to voltage-dependent anion channel d synonym: "encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency" EXACT [OMIM:614520] xref: OMIM:614520 {source="MONDO:equivalentTo"} xref: UMLS:C3281106 {source="OMIM:614520", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0013794 @@ -275480,7 +275432,7 @@ xref: MESH:C000598644 {source="MONDO:equivalentTo"} xref: OMIM:614561 {source="Orphanet:542310", source="MONDO:equivalentTo"} xref: Orphanet:542310 {source="MONDO:equivalentTo"} xref: UMLS:C3281200 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614561"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_characteristic HP:0000007 {source="Orphanet:542310"} ! Autosomal recessive inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/32952 {source="MONDO:mim2gene_medgen", source="Orphanet:542310"} ! SNORD118 @@ -275598,7 +275550,6 @@ is_a: MONDO:0019060 {source="Orphanet:163634"} ! bone neoplasm is_a: MONDO:0019293 {source="Orphanet:163634"} ! skin vascular disease is_a: MONDO:0019716 {source="Orphanet:163634"} ! overgrowth syndrome is_a: MONDO:0019755 ! developmental defect during embryogenesis -is_a: MONDO:0021147 ! disorder of development or morphogenesis relationship: excluded_subClassOf MONDO:0019708 {source="Orphanet:163634"} ! obsolete primary bone dysplasia with disorganized development of skeletal components relationship: has_characteristic MONDO:0021136 {source="MONDO:0015948", source="MONDO:0015959"} ! rare property_value: confidence "6.499999999999997" xsd:double @@ -276244,7 +276195,7 @@ synonym: "stuttering, familial persistent, 3" EXACT [OMIM:614655] xref: OMIM:614655 {source="MONDO:equivalentTo"} xref: UMLS:C3553381 {source="OMIM:614655", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000723 {source="DC-OMIM:614655", source="OMIM:614655"} ! stutter disorder -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0013842 @@ -276300,7 +276251,7 @@ synonym: "stuttering, familial persistent, 4" EXACT [OMIM:614668] xref: OMIM:614668 {source="MONDO:equivalentTo"} xref: UMLS:C3553403 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614668"} is_a: MONDO:0000723 {source="DC-OMIM:614668", source="OMIM:614668"} ! stutter disorder -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0013845 @@ -276516,7 +276467,7 @@ synonym: "hypertelorism and other facial dysmorphism, brachydactyly, genital abn synonym: "hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, mental retardation, and recurrent inflammatory episodes" EXACT DEPRECATED [OMIM:614684] xref: OMIM:614684 {source="MONDO:equivalentTo"} xref: UMLS:C3553465 {source="OMIM:614684", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0013857 @@ -276524,7 +276475,7 @@ name: alar cleft, isolated synonym: "alar cleft, isolated" EXACT [OMIM:614687] xref: OMIM:614687 {source="MONDO:equivalentTo"} xref: UMLS:C3553476 {source="OMIM:614687", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0013858 @@ -277211,7 +277162,7 @@ synonym: "HTX6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614779] xref: OMIM:614779 {source="MONDO:equivalentTo"} xref: Orphanet:450 {source="OMIM:614779"} xref: UMLS:C3553676 {source="MONDO:equivalentTo", source="OMIM:614779", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0018677 {source="DC-OMIM:614779", source="OMIM:614779"} ! visceral heterotaxy relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26530 {source="MONDO:mim2gene_medgen"} ! CFAP53 property_value: confidence "2.249999999999999" xsd:double @@ -277232,7 +277183,7 @@ xref: OMIM:614782 {source="MONDO:equivalentTo"} xref: Orphanet:862 {source="OMIM:614782"} xref: UMLS:C3539195 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614782"} is_a: MONDO:0003233 {source="DC-OMIM:614782", source="MONDO:Redundant", source="OMIM:614782"} ! essential tremor -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease intersection_of: MONDO:0003233 ! essential tremor intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4010 ! FUS relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4010 {source="MONDO:mim2gene_medgen"} ! FUS @@ -277616,7 +277567,7 @@ xref: ICD10CM:K00.5 {source="DOID:0110062"} xref: OMIM:614832 {source="DOID:0110062", source="MONDO:equivalentTo"} xref: Orphanet:100033 {source="OMIM:614832"} xref: UMLS:C3553830 {source="OMIM:614832", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0015048 {source="Orphanet:100033/btnt"} ! amelogenesis imperfecta type 2 is_a: MONDO:0019507 {source="DOID:0110062", source="MONDO:Redundant", source="OMIM:614832"} ! amelogenesis imperfecta intersection_of: MONDO:0019507 ! amelogenesis imperfecta @@ -278568,7 +278519,7 @@ xref: Orphanet:319547 {source="OMIM:614889"} xref: Orphanet:319574 {source="OMIM:614889"} xref: UMLS:C4013947 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0003778 {source="DC-OMIM:614889", source="MONDO:Redundant"} ! inborn error of immunity -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease intersection_of: MONDO:0003778 ! inborn error of immunity intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5440 ! IFNGR2 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5440 {source="MONDO:mim2gene_medgen"} ! IFNGR2 @@ -279307,7 +279258,7 @@ synonym: "congenital heart defects, multiple types, with Cardiac rhythm and cond xref: OMIM:614954 {source="MONDO:equivalentTo"} xref: UMLS:C3554194 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614954"} is_a: MONDO:0000119 {source="DC-OMIM:614954"} ! congenital heart defects, multiple types -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -279732,7 +279683,7 @@ synonym: "Phosphohydroxylysinuria" EXACT [MONDO:Lexical, OMIM:615011] synonym: "phosphohydroxylysinuria" EXACT CLINGEN_PREFERRED [OMIM:615011, OMIM:genemap2] xref: OMIM:615011 {source="MONDO:equivalentTo"} xref: UMLS:C3554344 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615011"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28249 {source="MONDO:mim2gene_medgen"} ! PHYKPL property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -281236,7 +281187,7 @@ xref: DOID:0081111 {source="MONDO:equivalentTo"} xref: OMIM:615198 {source="MONDO:equivalentTo", source="Orphanet:500548"} xref: Orphanet:500548 {source="MONDO:equivalentTo"} xref: UMLS:C3554665 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615198"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0017198 {source="Orphanet:500548", source="PMID:31633310"} ! osteopetrosis property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -281422,7 +281373,7 @@ xref: OMIM:616964 {source="MONDO:equivalentObsolete"} xref: Orphanet:352662 {source="OMIM:615225", source="MONDO:equivalentTo"} xref: UMLS:C3808876 {source="OMIM:615225", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:CN204511 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0017666 {source="MONDO:0020094-obsoleted"} ! diffuse palmoplantar keratoderma is_a: MONDO:0020212 {source="Orphanet:352662"} ! superficial corneal dystrophy relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14374 {source="MONDO:mim2gene_medgen"} ! NLRP1 @@ -281966,7 +281917,7 @@ xref: DOID:0090133 {source="MONDO:equivalentTo"} xref: OMIM:615282 {source="DOID:0090133", source="MONDO:equivalentTo"} xref: UMLS:C3809013 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615282"} is_a: MONDO:0000904 {source="DOID:0090133", source="MONDO:Redundant", source="OMIM:615282"} ! complex cortical dysplasia with other brain malformations -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease intersection_of: MONDO:0000904 ! complex cortical dysplasia with other brain malformations intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6325 ! KIF5C relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6325 {source="MONDO:mim2gene_medgen"} ! KIF5C @@ -283113,7 +283064,7 @@ xref: DOID:0090134 {source="MONDO:equivalentTo"} xref: OMIM:615411 {source="MONDO:equivalentTo", source="DOID:0090134"} xref: UMLS:C3809414 {source="OMIM:615411", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000904 {source="DOID:0090134", source="MONDO:Redundant", source="OMIM:615411"} ! complex cortical dysplasia with other brain malformations -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease intersection_of: MONDO:0000904 ! complex cortical dysplasia with other brain malformations intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6318 ! KIF2A relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6318 {source="MONDO:mim2gene_medgen"} ! KIF2A @@ -283132,7 +283083,7 @@ xref: DOID:0090138 {source="MONDO:equivalentTo"} xref: OMIM:615412 {source="MONDO:equivalentTo", source="DOID:0090138"} xref: UMLS:C3809420 {source="OMIM:615412", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000904 {source="DOID:0090138", source="MONDO:Redundant", source="OMIM:615412"} ! complex cortical dysplasia with other brain malformations -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease intersection_of: MONDO:0000904 ! complex cortical dysplasia with other brain malformations intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12417 ! TUBG1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12417 {source="MONDO:mim2gene_medgen"} ! TUBG1 @@ -283253,7 +283204,7 @@ synonym: "MYP22" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615420] xref: OMIM:615420 {source="MONDO:equivalentTo"} xref: UMLS:C3809464 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615420"} is_a: MONDO:0001384 {source="DC-OMIM:615420", source="OMIM:615420"} ! myopia -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26575 {source="MONDO:mim2gene_medgen"} ! PRIMPOL [Term] @@ -283383,7 +283334,7 @@ synonym: "specific language impairment type 5" EXACT [MONDORULE:1, OMIM:615432] xref: OMIM:615432 {source="EFO:0005425", source="MONDO:equivalentTo"} xref: UMLS:C3809483 {source="OMIM:615432", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000724 {source="DC-OMIM:615432", source="OMIM:615432"} ! specific language impairment -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26230 {source="MONDO:mim2gene_medgen"} ! TM4SF20 [Term] @@ -283859,7 +283810,7 @@ xref: DOID:0110026 {source="MONDO:equivalentTo"} xref: OMIM:615489 {source="MONDO:equivalentTo", source="DOID:0110026"} xref: UMLS:C3809653 {source="OMIM:615489", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3809654 {source="OMIM:615489", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005150 {source="DC-OMIM:615489", source="DOID:0110026", source="OMIM:615489"} ! age-related macular degeneration property_value: confidence "1.4444444444444446" xsd:double property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -284664,7 +284615,7 @@ xref: Orphanet:398069 {source="OMIM:615547", source="MONDO:equivalentTo"} xref: Orphanet:739 {source="OMIM:615547"} xref: UMLS:C1859724 {source="OMIM:208080", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:C3809877 {source="OMIM:615547", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="MONDO:preferredExternal"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0008300 {source="Orphanet:398069"} ! Prader-Willi syndrome relationship: has_characteristic SO:1000008 ! point_mutation relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6814 {source="MONDO:mim2gene_medgen"} ! MAGEL2 @@ -284927,7 +284878,7 @@ synonym: "complement factor B deficiency" RELATED [OMIM:615561] synonym: "complement factor b deficiency" EXACT [MONDO:Lexical, OMIM:615561] xref: OMIM:615561 {source="MONDO:equivalentTo"} xref: UMLS:C3809950 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615561"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1037 {source="MONDO:mim2gene_medgen"} ! CFB [Term] @@ -285082,7 +285033,7 @@ synonym: "VRJS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615583] xref: OMIM:615583 {source="MONDO:equivalentTo", source="Orphanet:508488"} xref: Orphanet:508488 {source="MONDO:equivalentTo"} xref: UMLS:C3810023 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615583"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005267 {source="MONDO:0015506-obsoleted"} ! heart disorder is_a: MONDO:0015159 {source="Orphanet:508488"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0016907 {source="Orphanet:508488"} ! partial deletion of the long arm of chromosome 8 @@ -285100,7 +285051,7 @@ xref: OMIM:615589 {source="MONDO:equivalentTo"} xref: Orphanet:2794 {source="OMIM:615589"} xref: UMLS:C3148558 {source="OMIM:615589", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3888339 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005349 {source="DC-OMIM:615589", source="OMIM:615589"} ! otosclerosis [Term] @@ -285395,7 +285346,7 @@ synonym: "developmental dysplasia of the hip 2" EXACT [MONDO:Lexical, OMIM:61561 xref: OMIM:615612 {source="MONDO:equivalentTo"} xref: UMLS:C3715079 {source="OMIM:615612", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000158 {source="DC-OMIM:615612", source="OMIM:615612"} ! developmental dysplasia of the hip -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0014278 @@ -286280,7 +286231,7 @@ xref: DOID:0080865 {source="MONDO:equivalentTo"} xref: OMIM:615723 {source="MONDO:equivalentTo"} xref: Orphanet:619 {source="OMIM:615723"} xref: UMLS:C3810367 {source="OMIM:615723", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0019852 {source="DC-OMIM:615723", source="OMIM:615723"} ! inherited primary ovarian failure intersection_of: MONDO:0019852 ! inherited primary ovarian failure intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11356 ! STAG3 @@ -286300,7 +286251,7 @@ xref: DOID:0080866 {source="MONDO:equivalentTo"} xref: OMIM:615724 {source="MONDO:equivalentTo"} xref: Orphanet:619 {source="OMIM:615724"} xref: UMLS:C3810376 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615724"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0019852 {source="DC-OMIM:615724", source="OMIM:615724"} ! inherited primary ovarian failure intersection_of: MONDO:0019852 ! inherited primary ovarian failure intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20193 ! HFM1 @@ -286598,7 +286549,7 @@ xref: DOID:0090135 {source="MONDO:equivalentTo"} xref: OMIM:615763 {source="DOID:0090135", source="MONDO:equivalentTo"} xref: UMLS:C3810407 {source="OMIM:615763", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000904 {source="DOID:0090135", source="MONDO:Redundant", source="OMIM:615763"} ! complex cortical dysplasia with other brain malformations -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease intersection_of: MONDO:0000904 ! complex cortical dysplasia with other brain malformations intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12412 ! TUBB2A relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12412 {source="MONDO:mim2gene_medgen"} ! TUBB2A @@ -286683,7 +286634,7 @@ xref: DOID:0090136 {source="MONDO:equivalentTo"} xref: OMIM:615771 {source="MONDO:equivalentTo", source="DOID:0090136"} xref: UMLS:C4014283 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000904 {source="DOID:0090136", source="MONDO:Redundant", source="OMIM:615771"} ! complex cortical dysplasia with other brain malformations -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease intersection_of: MONDO:0000904 ! complex cortical dysplasia with other brain malformations intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20778 ! TUBB relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20778 {source="MONDO:mim2gene_medgen"} ! TUBB @@ -286740,7 +286691,7 @@ xref: OMIM:615779 {source="MONDO:equivalentTo"} xref: Orphanet:98722 {source="OMIM:615779"} xref: UMLS:C4014310 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000119 {source="DC-OMIM:615779", source="MONDO:Redundant"} ! congenital heart defects, multiple types -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0020290 {source="Orphanet:98722/btnt"} ! familial atrioventricular septal defect intersection_of: MONDO:0000119 ! congenital heart defects, multiple types intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7976 ! NR2F2 @@ -286788,7 +286739,7 @@ name: short stature with microcephaly and distinctive facies synonym: "short stature with microcephaly and distinctive facies" EXACT CLINGEN_PREFERRED [OMIM:615789] xref: OMIM:615789 {source="MONDO:equivalentTo"} xref: UMLS:C4014339 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0800063 {source="PMID:31633310"} ! primordial dwarfism and slender bone disorder relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14312 {source="MONDO:mim2gene_medgen"} ! CRIPT property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -287118,7 +287069,7 @@ name: chromosome 16 inversion, 0.45-Mb synonym: "chromosome 16 inversion, 0.45-Mb" EXACT [OMIM:615835] xref: OMIM:615835 {source="MONDO:equivalentTo"} xref: UMLS:C4014436 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease intersection_of: MONDO:0043678 ! chromosome inversion disorder intersection_of: disease_arises_from_structure CHR:9606-chr16 ! chromosome 16 (Human) @@ -287644,7 +287595,7 @@ xref: ICD10CM:K00.5 {source="DOID:0110063"} xref: OMIM:615887 {source="MONDO:equivalentTo", source="DOID:0110063"} xref: Orphanet:100033 {source="OMIM:615887"} xref: UMLS:C4014578 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0015048 {source="Orphanet:100033/btnt"} ! amelogenesis imperfecta type 2 is_a: MONDO:0019507 {source="DOID:0110063", source="MONDO:Redundant", source="OMIM:615887"} ! amelogenesis imperfecta intersection_of: MONDO:0019507 ! amelogenesis imperfecta @@ -288158,7 +288109,7 @@ synonym: "MYP24" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615946] xref: OMIM:615946 {source="MONDO:equivalentTo"} xref: UMLS:C4014762 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0001384 {source="DC-OMIM:615946", source="OMIM:615946"} ! myopia -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20502 {source="MONDO:mim2gene_medgen"} ! SLC39A5 [Term] @@ -289817,7 +289768,7 @@ xref: DOID:0111939 {source="MONDO:equivalentTo"} xref: OMIM:616098 {source="MONDO:equivalentTo"} xref: UMLS:C4015195 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0003778 {source="DC-OMIM:616098", source="MONDO:Redundant"} ! inborn error of immunity -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease intersection_of: MONDO:0003778 ! inborn error of immunity intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/989 ! BCL10 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/989 {source="MONDO:mim2gene_medgen"} ! BCL10 @@ -290028,7 +289979,7 @@ synonym: "macular degeneration, early-onset" EXACT [MONDO:Lexical, OMIM:616118] xref: OMIM:616118 {source="MONDO:equivalentTo"} xref: UMLS:C4015286 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0003004 {source="https://orcid.org/0000-0001-5208-3432"} ! macular degeneration -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3604 {source="MONDO:mim2gene_medgen"} ! FBN2 property_value: confidence "1.4444444444444446" xsd:double @@ -290774,7 +290725,7 @@ xref: MESH:C562776 {source="MONDO:equivalentTo"} xref: OMIM:616214 {source="MONDO:equivalentTo"} xref: SCTID:237613005 {source="MONDO:equivalentTo"} xref: UMLS:C0342283 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6081 {source="MONDO:mim2gene_medgen"} ! INS [Term] @@ -291114,7 +291065,7 @@ synonym: "short stature with nonspecific skeletal abnormalities" EXACT [MONDO:Le synonym: "SNSK" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616255] xref: OMIM:616255 {source="MONDO:equivalentTo"} xref: UMLS:C4225399 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7944 {source="MONDO:mim2gene_medgen"} ! NPR2 [Term] @@ -291147,7 +291098,7 @@ synonym: "Tenorio syndrome" EXACT [MONDO:Lexical, OMIM:616260] synonym: "TNORS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616260] xref: OMIM:616260 {source="MONDO:equivalentTo"} xref: UMLS:C4015710 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21150 {source="MONDO:mim2gene_medgen"} ! RNF125 [Term] @@ -291199,7 +291150,7 @@ xref: ICD10CM:Q87.8 {source="MONDO:mondoSubClassOfSource", source="Orphanet:5625 xref: OMIM:616266 {source="MONDO:equivalentTo", source="Orphanet:562528"} xref: Orphanet:562528 {source="MONDO:equivalentTo"} xref: UMLS:C4225398 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19082 {source="MONDO:mim2gene_medgen"} ! NALCN property_value: confidence "2.220446049250313E-16" xsd:double @@ -291299,7 +291250,7 @@ xref: ICD10CM:K00.5 {source="DOID:0110065"} xref: OMIM:616270 {source="MONDO:equivalentTo", source="DOID:0110065"} xref: Orphanet:100031 {source="OMIM:616270"} xref: UMLS:C4225394 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0015047 {source="Orphanet:100031/btnt"} ! amelogenesis imperfecta type 1 is_a: MONDO:0019507 {source="DOID:0110065", source="MONDO:Redundant", source="OMIM:616270"} ! amelogenesis imperfecta intersection_of: MONDO:0019507 ! amelogenesis imperfecta @@ -292077,7 +292028,7 @@ xref: DOID:0111969 {source="MONDO:equivalentTo"} xref: OMIM:616345 {source="MONDO:equivalentTo"} xref: UMLS:C4225358 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0003778 {source="DC-OMIM:616345", source="MONDO:Redundant"} ! inborn error of immunity -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease intersection_of: MONDO:0003778 ! inborn error of immunity intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6122 ! IRF7 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6122 {source="MONDO:mim2gene_medgen"} ! IRF7 @@ -292647,7 +292598,7 @@ xref: MESH:D015835 {source="DOID:10235"} xref: OMIM:616407 {source="MONDO:equivalentTo"} xref: SCTID:35929003 {source="DOID:10235", source="MONDO:equivalentTo"} xref: UMLS:C0155339 {source="DOID:10235", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0004753 {source="DOID:10235"} ! mechanical strabismus [Term] @@ -295206,7 +295157,7 @@ synonym: "tooth agenesis, selective, 7; STHAG7" EXACT [] synonym: "tooth agenesis, selective, type 7" EXACT [MONDORULE:1, OMIM:616724] xref: OMIM:616724 {source="MONDO:equivalentTo"} xref: UMLS:C4225231 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005486 {source="DC-OMIM:616724", source="MONDO:Redundant", source="OMIM:616724"} ! tooth agenesis intersection_of: MONDO:0005486 ! tooth agenesis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6698 ! LRP6 @@ -295349,7 +295300,7 @@ xref: DOID:0111432 {source="MONDO:equivalentTo"} xref: OMIM:616736 {source="MONDO:equivalentTo"} xref: UMLS:C4225223 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0003233 {source="DC-OMIM:616736", source="MONDO:Redundant", source="OMIM:616736"} ! essential tremor -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease intersection_of: MONDO:0003233 ! essential tremor intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29945 ! TENM4 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29945 {source="MONDO:mim2gene_medgen"} ! TENM4 @@ -295457,7 +295408,7 @@ synonym: "MMP21 visceral heterotaxy" EXACT [MONDO:design_pattern, MONDO:patterns synonym: "visceral heterotaxy caused by mutation in MMP21" EXACT [MONDO:design_pattern] xref: OMIM:616749 {source="MONDO:equivalentTo"} xref: UMLS:C4225217 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0018677 {source="DC-OMIM:616749", source="MONDO:Redundant", source="OMIM:616749"} ! visceral heterotaxy intersection_of: MONDO:0018677 ! visceral heterotaxy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14357 ! MMP21 @@ -295529,7 +295480,7 @@ synonym: "LDAMD" RELATED ABBREVIATION [OMIM:616763] synonym: "leukodystrophy and acquired microcephaly with or without dystonia" RELATED [OMIM:616763] xref: OMIM:616763 {source="MONDO:equivalentTo"} xref: UMLS:C4225213 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29515 {source="MONDO:mim2gene_medgen"} ! PLEKHG2 [Term] @@ -295752,7 +295703,7 @@ synonym: "LAMSHF" EXACT ABBREVIATION [OMIM:616803] xref: OMIM:616803 {source="MONDO:equivalentTo"} xref: Orphanet:530983 {source="MONDO:equivalentTo"} xref: UMLS:C4225202 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11201 {source="MONDO:mim2gene_medgen"} ! SOX5 [Term] @@ -296018,7 +295969,7 @@ synonym: "SETD2-related overgrowth syndrome" EXACT [Orphanet:597738] xref: OMIM:616831 {source="MONDO:equivalentTo"} xref: Orphanet:597738 {source="MONDO:equivalentTo"} xref: UMLS:C4085873 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0800091 {source="PMID:31633310"} ! overgrowth or tall stature syndrome with skeletal involvement relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18420 {source="MONDO:mim2gene_medgen"} ! SETD2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -296033,7 +295984,7 @@ synonym: "PDB6" EXACT ABBREVIATION [OMIM:616833] xref: DOID:0081369 {source="MONDO:equivalentTo"} xref: OMIM:616833 {source="MONDO:equivalentTo"} xref: UMLS:C4085250 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005382 {source="DC-OMIM:616833", source="MONDO:Redundant", source="OMIM:616833"} ! bone Paget disease intersection_of: MONDO:0005382 ! bone Paget disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29277 ! ZNF687 @@ -296088,7 +296039,7 @@ synonym: "exercise intolerance, riboflavin-responsive" EXACT [OMIM:616839] synonym: "RREI" RELATED ABBREVIATION [OMIM:616839] xref: OMIM:616839 {source="MONDO:equivalentTo"} xref: UMLS:C4225187 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: disease_responds_to CHEBI:17015 ! riboflavin relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29683 {source="MONDO:mim2gene_medgen"} ! SLC25A32 @@ -296408,7 +296359,7 @@ synonym: "cerebellar atrophy, visual impairment, and psychomotor retardation" RE xref: DOID:0081276 {source="MONDO:equivalentTo"} xref: OMIM:616875 {source="MONDO:equivalentTo"} xref: UMLS:C4225172 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0100516 {source="https://www.clinicalgenome.org/affiliation/40113/"} ! complex neurodevelopmental disorder with motor features relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28957 {source="MONDO:mim2gene_medgen"} ! EMC1 @@ -296828,7 +296779,7 @@ synonym: "heart and brain malformation syndrome" EXACT [OMIM:616920] synonym: "heart and brain malformation syndrome; HBMS" EXACT [] xref: OMIM:616920 {source="MONDO:equivalentTo"} xref: UMLS:C4310793 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25763 {source="MONDO:mim2gene_medgen"} ! SMG9 [Term] @@ -296931,7 +296882,7 @@ synonym: "chorea, childhood-onset, with psychomotor retardation; COCPMR" EXACT [ synonym: "COCPMR" EXACT ABBREVIATION [OMIM:616939] xref: OMIM:616939 {source="MONDO:equivalentTo"} xref: UMLS:C4310787 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4539 {source="MONDO:mim2gene_medgen"} ! GPR88 [Term] @@ -297010,7 +296961,7 @@ xref: DOID:0080868 {source="MONDO:equivalentTo", source="MONDO:preferredEquivale xref: DOID:0080869 {source="MONDO:equivalentTo"} xref: OMIM:616946 {source="MONDO:equivalentTo"} xref: UMLS:C4310783 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0019852 {source="DC-OMIM:616946", source="OMIM:616946"} ! inherited primary ovarian failure intersection_of: MONDO:0019852 ! inherited primary ovarian failure intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3438 ! ERCC6 @@ -297028,7 +296979,7 @@ synonym: "primary ovarian failure caused by mutation in SYCE1" EXACT [MONDO:desi synonym: "SYCE1 primary ovarian failure" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: OMIM:616947 {source="MONDO:equivalentTo"} xref: UMLS:C4310782 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0019852 {source="DC-OMIM:616947", source="OMIM:616947"} ! inherited primary ovarian failure intersection_of: MONDO:0019852 ! inherited primary ovarian failure intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28852 ! SYCE1 @@ -297139,7 +297090,7 @@ synonym: "retinitis pigmentosa and erythrocytic microcytosis; RPEM" EXACT [] synonym: "RPEM" EXACT ABBREVIATION [OMIM:616959] xref: OMIM:616959 {source="MONDO:equivalentTo"} xref: UMLS:C4310776 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17341 {source="MONDO:mim2gene_medgen"} ! TRNT1 [Term] @@ -297278,7 +297229,7 @@ synonym: "rere-related neurodevelopmental syndrome" EXACT [Orphanet:494344] xref: OMIM:616975 {source="MONDO:equivalentTo"} xref: Orphanet:494344 {source="MONDO:equivalentTo"} xref: UMLS:C4310772 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9965 {source="MONDO:mim2gene_medgen"} ! RERE property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI @@ -297392,7 +297343,7 @@ synonym: "macrocephaly, dysmorphic facies, and psychomotor retardation; MDFPMR" synonym: "MDFPMR" EXACT ABBREVIATION [OMIM:617011] xref: OMIM:617011 {source="MONDO:equivalentTo"} xref: UMLS:C4310766 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4867 {source="MONDO:mim2gene_medgen"} ! HERC1 [Term] @@ -297412,7 +297363,7 @@ xref: Orphanet:521406 {source="MONDO:equivalentTo"} xref: SCTID:768554008 {source="MONDO:equivalentTo"} xref: UMLS:C4310765 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000214 {source="DC-OMIM:617013", source="MONDO:Redundant", source="OMIM:617013"} ! hypermanganesemia with dystonia -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0017766 {source="Orphanet:521406"} ! disorder of manganese transport is_a: MONDO:0018329 {source="Orphanet:521406"} ! persistent combined dystonia intersection_of: MONDO:0000214 ! hypermanganesemia with dystonia @@ -297518,7 +297469,7 @@ 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"} xref: UMLS:C4310761 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17095 {source="MONDO:mim2gene_medgen"} ! LARS2 @@ -297862,7 +297813,7 @@ synonym: "DNAJC21 bone marrow failure syndrome" EXACT [MONDO:design_pattern, MON xref: OMIM:617052 {source="MONDO:equivalentTo"} xref: UMLS:C4310744 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000159 {source="DC-OMIM:617052", source="MONDO:Redundant", source="OMIM:617052"} ! bone marrow failure syndrome -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease intersection_of: MONDO:0000159 ! bone marrow failure syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27030 ! DNAJC21 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27030 {source="MONDO:mim2gene_medgen"} ! DNAJC21 @@ -297881,7 +297832,7 @@ xref: OMIM:617053 {source="MONDO:equivalentTo"} xref: Orphanet:494433 {source="MONDO:equivalentTo"} xref: UMLS:C4284088 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0002254 {source="NCIT:C147530"} ! syndromic disease -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1348 {source="MONDO:mim2gene_medgen"} ! SAMD9 [Term] @@ -297944,7 +297895,7 @@ synonym: "tubulointerstitial kidney disease, autosomal dominant, 5" EXACT [OMIM: xref: OMIM:617056 {source="MONDO:equivalentTo"} xref: UMLS:C4310741 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000608 {source="DC-OMIM:617056", source="MONDO:Redundant", source="OMIM:617056"} ! familial juvenile hyperuricemic nephropathy -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease intersection_of: MONDO:0000608 ! familial juvenile hyperuricemic nephropathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18276 ! SEC61A1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18276 {source="MONDO:mim2gene_medgen"} ! SEC61A1 @@ -297985,7 +297936,7 @@ synonym: "Okur-Chung neurodevelopmental syndrome" EXACT [OMIM:617062] synonym: "Okur-Chung neurodevelopmental syndrome; OCNDS" EXACT [] xref: OMIM:617062 {source="MONDO:equivalentTo"} xref: UMLS:C4310739 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2457 {source="MONDO:mim2gene_medgen"} ! CSNK2A1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI @@ -298144,7 +298095,7 @@ synonym: "tooth agenesis, selective, type 8" EXACT [MONDORULE:1, OMIM:617073] synonym: "WNT10B tooth agenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: OMIM:617073 {source="MONDO:equivalentTo"} xref: UMLS:C4310730 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005486 {source="DC-OMIM:617073", source="MONDO:Redundant", source="OMIM:617073"} ! tooth agenesis intersection_of: MONDO:0005486 ! tooth agenesis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12775 ! WNT10B @@ -298385,7 +298336,7 @@ synonym: "intellectual developmental disorder with persistence of foetal Haemogl 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 +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700120 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! BAFopathy relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13221 {source="MONDO:mim2gene_medgen"} ! BCL11A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3939" xsd:anyURI @@ -298464,7 +298415,7 @@ synonym: "TROFAS" EXACT ABBREVIATION [OMIM:617107] xref: OMIM:617107 {source="MONDO:equivalentTo", source="Orphanet:500095"} xref: Orphanet:500095 {source="MONDO:equivalentTo"} xref: UMLS:C4310715 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0015159 {source="Orphanet:500095"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:500095"} ! syndromic intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare @@ -298704,7 +298655,7 @@ synonym: "Alazami-Yuan syndrome; ALYUS" EXACT [] synonym: "ALYUS" EXACT ABBREVIATION [OMIM:617126] xref: OMIM:617126 {source="MONDO:equivalentTo"} xref: UMLS:C4310702 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11540 {source="MONDO:mim2gene_medgen"} ! TAF6 [Term] @@ -298799,7 +298750,7 @@ synonym: "ZTTKS" RELATED ABBREVIATION [OMIM:617140] xref: OMIM:617140 {source="MONDO:equivalentTo", source="Orphanet:500150"} xref: Orphanet:500150 {source="MONDO:equivalentTo", source="OMIM:617140"} xref: UMLS:C4310696 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:617140"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0015159 {source="Orphanet:500150"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:500150"} ! syndromic intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare @@ -298868,7 +298819,7 @@ synonym: "neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-ons xref: DOID:0081364 {source="MONDO:equivalentTo"} xref: OMIM:617145 {source="MONDO:equivalentTo"} xref: UMLS:C4310693 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11280 {source="MONDO:mim2gene_medgen"} ! SQSTM1 [Term] @@ -298879,7 +298830,7 @@ synonym: "arthrogryposis, distal, with impaired proprioception and touch; DAIPT" synonym: "DAIPT" EXACT ABBREVIATION [OMIM:617146] xref: OMIM:617146 {source="MONDO:equivalentTo"} xref: UMLS:C4310692 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0019942 ! distal arthrogryposis relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26270 {source="MONDO:mim2gene_medgen"} ! PIEZO2 @@ -298965,7 +298916,7 @@ synonym: "Sifrim-Hitz-Weiss syndrome; SIHIWES" EXACT [] synonym: "SIHIWES" EXACT ABBREVIATION [OMIM:617159] xref: OMIM:617159 {source="MONDO:equivalentTo"} xref: UMLS:C4310688 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1919 {source="MONDO:mim2gene_medgen"} ! CHD4 [Term] @@ -298999,7 +298950,7 @@ synonym: "short stature, rhizomelic, with microcephaly, micrognathia, and develo synonym: "SRMMD" EXACT ABBREVIATION [OMIM:617164] xref: OMIM:617164 {source="MONDO:equivalentTo"} xref: UMLS:C4310686 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/649 {source="MONDO:mim2gene_medgen"} ! ARCN1 [Term] @@ -299094,7 +299045,7 @@ xref: DOID:0081008 {source="MONDO:equivalentTo"} xref: OMIM:617173 {source="MONDO:equivalentTo", source="Orphanet:542306"} xref: Orphanet:542306 {source="MONDO:equivalentTo"} xref: UMLS:C4310682 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_characteristic HP:0000007 {source="Orphanet:542306"} ! Autosomal recessive inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4401 {source="MONDO:mim2gene_medgen", source="Orphanet:542306"} ! GNB5 @@ -299134,7 +299085,7 @@ synonym: "Chitayat syndrome; CHYTS" EXACT [] synonym: "CHYTS" EXACT ABBREVIATION [OMIM:617180] xref: OMIM:617180 {source="MONDO:equivalentTo"} xref: UMLS:C4310679 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3444 {source="MONDO:mim2gene_medgen"} ! ERF [Term] @@ -299146,7 +299097,7 @@ synonym: "language delay and attention Deficit-hyperactivity disorder/cognitive synonym: "language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia; LADCI" EXACT [] xref: OMIM:617182 {source="MONDO:equivalentTo"} xref: UMLS:C4310678 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4401 {source="MONDO:mim2gene_medgen"} ! GNB5 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -299253,7 +299204,7 @@ synonym: "Shashi-Pena syndrome" EXACT [OMIM:617190] synonym: "Shashi-Pena syndrome; SHAPNS" EXACT [] xref: OMIM:617190 {source="MONDO:equivalentTo"} xref: UMLS:C4310672 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23805 {source="MONDO:mim2gene_medgen"} ! ASXL2 [Term] @@ -299312,7 +299263,7 @@ synonym: "PKD1L1 visceral heterotaxy" EXACT [MONDO:design_pattern, MONDO:pattern synonym: "visceral heterotaxy caused by mutation in PKD1L1" EXACT [MONDO:design_pattern] xref: OMIM:617205 {source="MONDO:equivalentTo"} xref: UMLS:C4310668 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0018677 {source="DC-OMIM:617205", source="MONDO:Redundant", source="OMIM:617205"} ! visceral heterotaxy intersection_of: MONDO:0018677 ! visceral heterotaxy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18053 ! PKD1L1 @@ -299327,7 +299278,7 @@ synonym: "encephalopathy, progressive, with amyotrophy and optic atrophy; PEAMO" synonym: "PEAMO" EXACT ABBREVIATION [OMIM:617207] xref: OMIM:617207 {source="MONDO:equivalentTo"} xref: UMLS:C4310667 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0100198 {source="https://orcid.org/0000-0001-5208-3432"} ! Mendelian encephalopathy relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11582 {source="MONDO:mim2gene_medgen"} ! TBCE property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5671" xsd:anyURI @@ -299380,7 +299331,7 @@ synonym: "amelogenesis imperfecta, hypomaturation type, IIa6; AI2A6" EXACT [] xref: DOID:0080960 {source="MONDO:equivalentTo"} xref: OMIM:617217 {source="MONDO:equivalentTo"} xref: UMLS:C4310665 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0015048 {source="Orphanet:100033/btnt"} ! amelogenesis imperfecta type 2 is_a: MONDO:0019507 {source="MONDO:Redundant", source="OMIM:617217"} ! amelogenesis imperfecta relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4519 {source="MONDO:mim2gene_medgen"} ! GPR68 @@ -299406,7 +299357,7 @@ synonym: "sudden Cardiac failure, infantile" EXACT [OMIM:617222] synonym: "sudden cardiac failure, infantile; SCFI" EXACT [] xref: OMIM:617222 {source="MONDO:equivalentTo"} xref: UMLS:C4310664 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0017131 {source="https://orcid.org/0000-0001-6330-7526"} ! hereditary cardiac anomaly relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28883 {source="MONDO:mim2gene_medgen"} ! PPA2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6139" xsd:anyURI @@ -299419,7 +299370,7 @@ synonym: "sudden Cardiac failure, alcohol-induced" EXACT [OMIM:617223] synonym: "sudden cardiac failure, alcohol-induced; SCFAI" EXACT [] xref: OMIM:617223 {source="MONDO:equivalentTo"} xref: UMLS:C4310663 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28883 {source="MONDO:mim2gene_medgen"} ! PPA2 [Term] @@ -299519,7 +299470,7 @@ synonym: "myoclonus, intractable, neonatal; NEIMY" EXACT [] synonym: "NEIMY" EXACT ABBREVIATION [OMIM:617235] xref: OMIM:617235 {source="MONDO:equivalentTo"} xref: UMLS:C4310658 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6323 {source="MONDO:mim2gene_medgen"} ! KIF5A [Term] @@ -299550,7 +299501,7 @@ xref: DOID:0111979 {source="MONDO:equivalentTo"} xref: OMIM:617237 {source="MONDO:equivalentTo"} xref: UMLS:C4310656 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0003778 {source="DC-OMIM:617237", source="MONDO:Redundant"} ! inborn error of immunity -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0031520 {source="OMIM:617237"} ! familial severe combined immunodeficiency intersection_of: MONDO:0003778 ! inborn error of immunity intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13222 ! BCL11B @@ -299568,7 +299519,7 @@ synonym: "P4HA2 myopia (disease)" EXACT [MONDO:patterns/disease_series_by_gene] xref: OMIM:617238 {source="MONDO:equivalentTo"} xref: UMLS:C4310655 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0001384 {source="DC-OMIM:617238", source="MONDO:Redundant", source="OMIM:617238"} ! myopia -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease intersection_of: MONDO:0001384 ! myopia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8547 ! P4HA2 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8547 {source="MONDO:mim2gene_medgen"} ! P4HA2 @@ -299600,7 +299551,7 @@ synonym: "LICS" RELATED ABBREVIATION [OMIM:617241] synonym: "lung disease, immunodeficiency, and chromosome breakage syndrome" RELATED [OMIM:617241] xref: OMIM:617241 {source="MONDO:equivalentTo"} xref: UMLS:C4310653 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7677 {source="MONDO:mim2gene_medgen"} ! NSMCE3 [Term] @@ -299783,7 +299734,7 @@ synonym: "global developmental delay, absent or hypoplastic corpus callosum, and synonym: "global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies; GDACCF" EXACT [] xref: OMIM:617260 {source="MONDO:equivalentTo"} xref: UMLS:C4310644 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12933 {source="MONDO:mim2gene_medgen"} ! ZNF148 [Term] @@ -299794,7 +299745,7 @@ synonym: "neurodevelopmental disorder with hypotonia, seizures, and absent langu synonym: "neurodevelopmental disorder with hypotonia, seizures, and absent language; NDHSAL" EXACT [] xref: OMIM:617268 {source="MONDO:equivalentTo"} xref: UMLS:C4310643 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29853 {source="MONDO:mim2gene_medgen"} ! HECW2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI @@ -299867,7 +299818,7 @@ synonym: "tooth agenesis, selective, 9; STHAG9" EXACT [] synonym: "tooth agenesis, selective, type 9" EXACT [MONDORULE:1, OMIM:617275] xref: OMIM:617275 {source="MONDO:equivalentTo"} xref: UMLS:C4310638 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005486 {source="DC-OMIM:617275", source="MONDO:Redundant", source="OMIM:617275"} ! tooth agenesis intersection_of: MONDO:0005486 ! tooth agenesis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17655 ! GREM2 @@ -299945,7 +299896,7 @@ synonym: "DYTOABG" EXACT ABBREVIATION [OMIM:617282] xref: OMIM:617282 {source="MONDO:equivalentTo", source="Orphanet:508093"} xref: Orphanet:508093 {source="MONDO:equivalentTo"} xref: UMLS:C4310634 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0018329 {source="Orphanet:508093"} ! persistent combined dystonia is_a: MONDO:0018424 {source="Orphanet:508093"} ! inherited lipoic acid biosynthesis defect is_a: MONDO:0024237 {source="Orphanet:508093"} ! inherited neurodegenerative disorder @@ -299965,7 +299916,7 @@ synonym: "KMT2B dystonic disorder" EXACT [MONDO:design_pattern, MONDO:patterns/d xref: OMIM:617284 {source="MONDO:equivalentTo"} xref: Orphanet:589618 {source="MONDO:equivalentTo"} xref: UMLS:C4310633 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0018329 {source="Orphanet:589618"} ! persistent combined dystonia is_a: MONDO:0044807 {source="DC-OMIM:617284", source="OMIM:617284"} ! inherited dystonia intersection_of: MONDO:0044807 ! inherited dystonia @@ -299998,7 +299949,7 @@ synonym: "generalized basal epidermolysis bullosa simplex with skin atrophy, sca xref: OMIM:617294 {source="Orphanet:508529", source="MONDO:equivalentTo"} xref: Orphanet:508529 {source="MONDO:equivalentTo"} xref: UMLS:C4310631 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0017610 {source="https://orcid.org/0000-0001-5208-3432"} ! epidermolysis bullosa simplex intersection_of: MONDO:0017610 ! epidermolysis bullosa simplex intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25947 ! KLHL24 @@ -300016,7 +299967,7 @@ synonym: "spastic paraplegia, intellectual disability, nystagmus, and obesity" R xref: OMIM:617296 {source="MONDO:equivalentTo", source="Orphanet:521390"} xref: Orphanet:521390 {source="MONDO:equivalentTo"} xref: UMLS:C4284592 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0015087 {source="Orphanet:521390"} ! autosomal dominant complex spastic paraplegia is_a: MONDO:0016565 {source="Orphanet:521390"} ! syndromic genetic obesity relationship: has_characteristic HP:0000006 {source="Orphanet:521390"} ! Autosomal dominant inheritance @@ -300045,7 +299996,7 @@ synonym: "hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibilit synonym: "hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to; HFASD" EXACT [] xref: OMIM:617300 {source="MONDO:equivalentTo"} xref: UMLS:C4310629 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0019313 {source="OMIM:617300"} ! lymphatic malformation is_a: MONDO:0700080 {source="https://www.clinicalgenome.org/affiliation/40106/"} ! EPHB4-associated vascular malformation spectrum relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3395 {source="MONDO:mim2gene_medgen"} ! EPHB4 @@ -300139,7 +300090,7 @@ synonym: "COMMAD syndrome" EXACT [OMIM:617306, OMIM:genemap2] xref: OMIM:617306 {source="MONDO:equivalentTo"} xref: Orphanet:603494 {source="MONDO:equivalentTo"} xref: UMLS:C4310625 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7105 {source="MONDO:mim2gene_medgen"} ! MITF property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -300227,7 +300178,7 @@ synonym: "YAOS" EXACT ABBREVIATION [OMIM:617321] xref: OMIM:617321 {source="MONDO:equivalentTo"} xref: SCTID:768667002 {source="MONDO:equivalentTo"} xref: UMLS:C4310620 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5331 {source="MONDO:mim2gene_medgen"} ! NOD2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI @@ -300259,7 +300210,7 @@ synonym: "hypotonia, ataxia, and delayed development syndrome; HADDS" EXACT [] xref: DOID:0081176 {source="MONDO:equivalentTo"} xref: OMIM:617330 {source="MONDO:equivalentTo"} xref: UMLS:C4310618 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19087 {source="MONDO:mim2gene_medgen"} ! EBF3 [Term] @@ -305794,7 +305745,7 @@ xref: SCTID:719583002 {source="MONDO:equivalentTo"} xref: UMLS:C3150928 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:139474"} xref: UMLS:C4304642 {source="MONDO:equivalentTo"} xref: UMLS:CN199408 {source="MONDO:equivalentObsolete"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0016967 {source="Orphanet:139474"} ! partial duplication of the long arm of chromosome 17 intersection_of: MONDO:0000762 ! syndrome caused by partial chromosomal duplication intersection_of: disease_arises_from_structure CHR:9606-chr17q11.2 ! 17q11.2 (Human) @@ -309977,7 +309928,7 @@ xref: Orphanet:1646 {source="MONDO:equivalentTo"} xref: SCTID:717158001 {source="MONDO:equivalentTo"} xref: UMLS:C1507149 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1646", source="Orphanet:1646/e"} xref: UMLS:C2931163 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1646"} -is_a: MONDO:0005372 {source="https://orcid.org/0000-0003-1967-3726"} ! male infertility +is_a: MONDO:0005372 {source="https://orcid.org/0000-0001-5208-3432"} ! male infertility intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion intersection_of: disease_arises_from_structure CHR:9606-chrY ! chromosome Y (Human) relationship: has_characteristic MONDO:0021136 ! rare @@ -322391,7 +322342,7 @@ xref: MESH:C537981 {source="MONDO:equivalentTo"} xref: Orphanet:2233 {source="MONDO:equivalentTo"} xref: SCTID:721841001 {source="MONDO:equivalentTo"} xref: UMLS:C2931685 {source="GARD:0001078", source="Orphanet:2233", source="MONDO:equivalentTo"} -is_a: MONDO:0002254 {source="https://orcid.org/0000-0003-1967-3726"} ! syndromic disease +is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015906"} ! rare [Term] @@ -335129,7 +335080,7 @@ synonym: "nonsyndromic male infertility due to sperm motility disorder" EXACT [h xref: ICD10CM:N46 {source="Orphanet:276234/attributed", source="Orphanet:276234/ntbt", source="Orphanet:276234"} xref: Orphanet:276234 {source="MONDO:equivalentTo"} xref: UMLS:CN202602 {source="MONDO:equivalentTo"} -is_a: MONDO:0005372 {source="MONDO:Redundant", source="Orphanet:276234", source="https://orcid.org/0000-0003-1967-3726"} ! male infertility +is_a: MONDO:0005372 {source="MONDO:Redundant", source="Orphanet:276234", source="https://orcid.org/0000-0001-5208-3432"} ! male infertility intersection_of: MONDO:0005372 ! male infertility intersection_of: has_characteristic MONDO:0021128 ! has an isolated presentation property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -345513,7 +345464,7 @@ synonym: "diencephalic-mesencephalic junction dysplasia syndrome" EXACT [MONDO:0 xref: ICD10CM:Q04.8 {source="Orphanet:319192", source="Orphanet:319192/attributed", source="Orphanet:319192/ntbt"} xref: OMIMPS:251280 {source="MONDO:equivalentTo"} xref: Orphanet:319192 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0016054 {source="Orphanet:319192"} ! cerebral malformation is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:319192", source="Orphanet:319192/inferred"} ! disorder of development or morphogenesis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare @@ -360516,7 +360467,7 @@ xref: SCTID:440471007 {source="DOID:899"} xref: UMLS:C0008340 {source="OMIM:603003", source="DOID:899", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1257797 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0002887 {source="DOID:899", source="MESH:D015529"} ! bile duct disorder -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0004868 {source="Orphanet:480501"} ! biliary tract disorder relationship: has_characteristic MONDO:0021136 {source="MONDO:0015116"} ! rare property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3613" xsd:anyURI @@ -360685,7 +360636,7 @@ xref: OMIM:616878 {source="MONDO:equivalentTo"} xref: Orphanet:480864 {source="MONDO:equivalentTo"} xref: UMLS:C4225171 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} xref: UMLS:CN776869 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0024237 {source="Orphanet:480864"} ! inherited neurodegenerative disorder relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:480864"} ! syndromic intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare @@ -370441,7 +370392,7 @@ xref: MESH:D019588 {source="Orphanet:79389/e", source="MONDO:equivalentTo", sour xref: Orphanet:79389 {source="MONDO:equivalentTo"} xref: UMLS:C0231341 {source="Orphanet:79389/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:79389"} is_a: MONDO:0000001 {source="https://orcid.org/0000-0002-2825-0621"} ! disease -is_a: MONDO:0700096 ! human disease +is_a: MONDO:0700096 {source="https://orcid.org/0000-0001-5208-3432"} ! human disease relationship: disease_disrupts GO:0007568 ! aging relationship: excluded_subClassOf MONDO:0005093 {source="Orphanet:79389"} ! skin disorder relationship: has_characteristic MONDO:0021136 {source="MONDO:0019043"} ! rare @@ -377216,7 +377167,7 @@ xref: Orphanet:93282 {source="MONDO:equivalentTo", source="OMIM:612847"} xref: SCTID:719172003 {source="MONDO:equivalentTo"} xref: UMLS:C2748515 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:612847", source="Orphanet:93282"} xref: UMLS:C2748516 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:612847"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0019688 {source="Orphanet:93282", source="PMID:31633310"} ! sulfation-related bone disorder is_a: MONDO:0100510 {source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia relationship: excluded_subClassOf MONDO:0016761 {source="DOID:0050812", source="Orphanet:93282"} ! spondyloepiphyseal dysplasia @@ -391829,7 +391780,7 @@ name: microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia synonym: "MFRG" EXACT ABBREVIATION [OMIM:618142] synonym: "microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome" EXACT [OMIM:618142] xref: OMIM:618142 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0020648 @@ -393767,7 +393718,7 @@ id: MONDO:0020774 name: Menke-Hennekam syndrome xref: OMIMPS:618332 {source="MONDO:equivalentTo"} xref: Orphanet:592574 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_characteristic MONDO:0021152 {source="OMIMPS:618332"} ! inherited [Term] @@ -394026,7 +393977,7 @@ xref: MESH:C535725 {source="MONDO:equivalentTo"} xref: OMIM:126950 {source="MONDO:equivalentTo"} xref: Orphanet:2661 {source="OMIM:126950"} xref: UMLS:C1851996 {source="OMIM:126950"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0020793 @@ -394433,7 +394384,7 @@ name: methemoglobinemia, alpha type synonym: "methemoglobinemia, alpha type" EXACT [OMIM:617973] xref: OMIM:617973 {source="MONDO:equivalentTo"} xref: Orphanet:330041 {source="OMIM:617973"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0018963 {source="https://github.com/monarch-initiative/mondo/issues/1612", source="https://medlineplus.gov/ency/article/000562.htm"} ! hereditary methemoglobinemia relationship: excluded_subClassOf MONDO:0019050 {source="Orphanet:330041", source="Orphanet:330041/inferred"} ! inherited hemoglobinopathy @@ -394476,7 +394427,7 @@ synonym: "PAPHG" EXACT ABBREVIATION [OMIM:618042] synonym: "pulmonary alveolar proteinosis with hypogammaglobulinemia" EXACT [OMIM:618042] xref: OMIM:618042 {source="MONDO:equivalentTo"} xref: UMLS:CN248786 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI [Term] @@ -394486,7 +394437,7 @@ synonym: "NEDCAS" EXACT ABBREVIATION [OMIM:618056] synonym: "neurodevelopmental disorder with cerebellar atrophy and with or without seizures" EXACT [OMIM:618056] xref: OMIM:618056 {source="MONDO:equivalentTo"} xref: UMLS:CN252657 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI @@ -394597,7 +394548,7 @@ synonym: "encephalitis/encephalopathy, mild, with reversible myelin vacuolizatio synonym: "Encephalitis/encephalopathy, mild, with reversible splenial lesion" EXACT [OMIM:618113] synonym: "MMERV" EXACT ABBREVIATION [OMIM:618113] xref: OMIM:618113 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0100198 {source="https://orcid.org/0000-0001-5208-3432"} ! Mendelian encephalopathy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5671" xsd:anyURI @@ -397105,7 +397056,7 @@ subset: ordo_group_of_disorders xref: MESH:D000083083 {source="MONDO:equivalentTo"} xref: Orphanet:98301 {source="MONDO:equivalentTo"} xref: UMLS:CN236383 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease intersection_of: MONDO:0000001 ! disease intersection_of: disease_has_basis_in_dysfunction_of GO:0005652 ! nuclear lamina @@ -410519,7 +410470,7 @@ id: MONDO:0023003 name: double fingernail of fifth finger comment: Editor note: consider making a grouping class with MONDO:0007469 subset: gard_rare -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: disease_has_location UBERON:0003625 ! manual digit 5 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1906/double-fingernail-of-fifth-finger" xsd:anyURI {source="GARD:0001906"} @@ -411099,7 +411050,7 @@ synonym: "partial paralysis, familial" RELATED [GARD:0008607] xref: GTR:AN0100894 xref: MEDGEN:447610 xref: UMLS:CN035928 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8607/familial-partial-paralysis" xsd:anyURI {source="GARD:0008607"} [Term] @@ -412341,7 +412292,7 @@ synonym: "acquired testicular failure" EXACT [NCIT:C131091, UMLS:C0403818] xref: NCIT:C131091 {source="MONDO:equivalentTo", source="UMLS:C0403818"} xref: SCTID:236811002 {source="MONDO:equivalentTo", source="UMLS:C0403818"} xref: UMLS:C0403818 {source="MONDO:equivalentTo"} -is_a: MONDO:0002329 {source="https://orcid.org/0000-0003-1967-3726"} ! testicular disorder +is_a: MONDO:0002329 {source="https://orcid.org/0000-0001-5208-3432"} ! testicular disorder intersection_of: MONDO:0000001 ! disease intersection_of: disease_has_major_feature HP:0008669 ! Abnormal spermatogenesis intersection_of: has_characteristic MONDO:0021141 ! acquired @@ -412592,7 +412543,7 @@ synonym: "Mendelian connective tissue disorder" EXACT [https://orcid.org/0000-00 xref: NCIT:C97075 {source="MONDO:equivalentTo", source="UMLS:C0410787"} xref: SCTID:363045008 {source="MONDO:equivalentTo", source="UMLS:C0410787"} xref: UMLS:C0410787 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0003900 {source="NCIT:C97075", source="UMLS:C0410787"} ! connective tissue disorder intersection_of: MONDO:0003900 ! connective tissue disorder intersection_of: has_characteristic MONDO:0021152 ! inherited @@ -417660,7 +417611,7 @@ xref: SCTID:232208008 {source="MONDO:equivalentTo"} xref: UMLS:C0029896 {source="MONDO:equivalentTo"} xref: UMLS:C0395797 {source="MONDO:equivalentTo"} is_a: MONDO:0000001 {source="NCIT:C118420/inferred"} ! disease -is_a: MONDO:0700096 ! human disease +is_a: MONDO:0700096 {source="https://orcid.org/0000-0001-5208-3432"} ! human disease relationship: disease_has_location UBERON:0007811 ! craniocervical region [Term] @@ -417748,7 +417699,7 @@ xref: NCIT:C4757 {source="MONDO:equivalentTo"} xref: OMIM:608026 {source="MONDO:equivalentTo"} xref: SCTID:38481006 {source="MONDO:equivalentTo"} xref: UMLS:C0848548 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:608026"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease intersection_of: MONDO:0005240 ! kidney disorder intersection_of: disease_arises_from_feature MONDO:0005044 ! hypertensive disorder property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3600" xsd:anyURI @@ -419860,7 +419811,7 @@ synonym: "Linked syndrome" EXACT [OMIM:301056] synonym: "MCAND" EXACT ABBREVIATION [OMIM:301056] synonym: "multiple congenital anomalies-neurodevelopmental syndrome, X-linked, X-linked recessive" EXACT [OMIM:301056, OMIM:genemap2] xref: OMIM:301056 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -419893,7 +419844,7 @@ name: azoospermia, obstructive, with nephrolithiasis synonym: "azoospermia, obstructive, with nephrolithiasis, X-linked recessive" EXACT [OMIM:301060, OMIM:genemap2] synonym: "OAZON" EXACT ABBREVIATION [OMIM:301060] xref: OMIM:301060 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -421233,7 +421184,7 @@ synonym: "WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED" RELATED [OMIM:301041] synonym: "Wieacker-Wolff syndrome, female-restricted, X-linked dominant" EXACT [OMIM:301041, OMIM:genemap2] synonym: "WRWFFR" RELATED ABBREVIATION [OMIM:301041] xref: OMIM:301041 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0025445 {source="OMIM:301041"} ! Wieacker-Wolff syndrome (spectrum) property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -421259,7 +421210,7 @@ synonym: "CDG2R" RELATED ABBREVIATION [OMIM:301045] synonym: "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr" RELATED [OMIM:301045] synonym: "congenital disorder of glycosylation, type IIr, X-linked recessive" EXACT [OMIM:301045, OMIM:genemap2] xref: OMIM:301045 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005501 {source="OMIM:301045"} ! congenital disorder of glycosylation type II property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -421273,7 +421224,7 @@ synonym: "respiratory insufficiency due to SARS-CoV-2 viral infection" RELATED [ synonym: "TLR7 deficiency" RELATED [OMIM:301051] xref: DOID:0112063 {source="MONDO:equivalentTo"} xref: OMIM:301051 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0021094 {source="OMIM:301051"} ! immunodeficiency disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -421300,7 +421251,7 @@ synonym: "EIEE85" EXACT ABBREVIATION [OMIM:301044] synonym: "epileptic encephalopathy, early infantile, 85, with or without midline brain defects" EXACT [OMIM:301044] xref: DOID:0070380 {source="MONDO:equivalentTo"} xref: OMIM:301044 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0100062 {source="OMIM:301044"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11111 ! SMC1A @@ -421810,7 +421761,7 @@ xref: MESH:D011041 {source="MONDO:equivalentTo"} xref: SCTID:75478009 {source="MONDO:equivalentTo"} xref: UMLS:C0302332 {source="MONDO:equivalentTo"} is_a: MONDO:0000001 {source="https://orcid.org/0000-0002-4142-7153"} ! disease -is_a: MONDO:0700096 ! human disease +is_a: MONDO:0700096 {source="https://orcid.org/0000-0001-5208-3432"} ! human disease [Term] id: MONDO:0029001 @@ -421877,7 +421828,7 @@ name: peripheral neuropathy, autosomal recessive, with or without impaired intel synonym: "peripheral neuropathy, autosomal recessive, with or without impaired intellectual development" EXACT [OMIM:618124] synonym: "PNRIID" RELATED ABBREVIATION [OMIM:618124] xref: OMIM:618124 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0029132 @@ -421977,7 +421928,7 @@ synonym: "glycosylphosphatidylinositol biosynthesis defect 18" EXACT [OMIM:61814 synonym: "GPIBD18" RELATED ABBREVIATION [OMIM:618143] xref: DOID:0070382 {source="MONDO:equivalentTo"} xref: OMIM:618143 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: disease_has_basis_in_disruption_of GO:0006506 ! GPI anchor biosynthetic process property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -422007,7 +421958,7 @@ synonym: "chromosome 14q32 deletion syndrome" RELATED [OMIM:618147] synonym: "IDDHDF" RELATED ABBREVIATION [OMIM:618147] synonym: "INTELLECTUAL DEVELOPMENTAL disorder WITH HYPERTELORISM AND DISTINCTIVE FACIES" RELATED [OMIM:618147] xref: OMIM:618147 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0029144 @@ -422019,7 +421970,7 @@ synonym: "extraoral halitosis with dimethylsulfoxiduria" RELATED [OMIM:618148] synonym: "METHANETHIOL Oxidase Deficiency" RELATED [OMIM:618148] synonym: "MTO Deficiency" RELATED [OMIM:618148] xref: OMIM:618148 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: disease_has_basis_in_disruption_of GO:0018549 ! methanethiol oxidase activity property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -422121,7 +422072,7 @@ synonym: "EPEDD" EXACT ABBREVIATION [OMIM:618832] synonym: "EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY" EXACT [OMIM:618832] synonym: "epilepsy, early-onset, with or without developmental delay" EXACT [OMIM:618832] xref: OMIM:618832 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0030006 @@ -422182,7 +422133,7 @@ synonym: "diets-jongmans syndrome" EXACT [OMIM:618846] synonym: "DIJOS" EXACT ABBREVIATION [OMIM:618846] synonym: "Intellectual Developmental Disorder With Distinctive Facial Dysmorphism" EXACT [OMIM:618846] xref: OMIM:618846 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0030013 @@ -422238,7 +422189,7 @@ synonym: "autoinflammation with episodic fever and lymphadenopathy" EXACT [OMIM: synonym: "Cleavage-Resistant Ripk1-Induced Autoinflammatory Syndrome" EXACT [OMIM:618852] synonym: "Cria Syndrome" EXACT [OMIM:618852] xref: OMIM:618852 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0030019 @@ -422266,7 +422217,7 @@ synonym: "NEDASB" EXACT ABBREVIATION [OMIM:618859] synonym: "NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES" EXACT [OMIM:618859] synonym: "neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities" EXACT [OMIM:618859] xref: OMIM:618859 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI @@ -422277,7 +422228,7 @@ synonym: "NEDHYMS" EXACT ABBREVIATION [OMIM:618862] synonym: "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES" EXACT [OMIM:618862] synonym: "neurodevelopmental disorder with hypotonia, microcephaly, and seizures" EXACT [OMIM:618862] xref: OMIM:618862 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI @@ -422289,7 +422240,7 @@ synonym: "RETINAL DYSTROPHY WITH LEUKODYSTROPHY" EXACT [OMIM:618863] synonym: "retinal dystrophy with leukodystrophy" EXACT [OMIM:618863] xref: DOID:0080946 {source="MONDO:equivalentTo"} xref: OMIM:618863 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0030027 @@ -422308,7 +422259,7 @@ synonym: "CONATOC" EXACT ABBREVIATION [OMIM:618868] synonym: "NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE" EXACT [OMIM:618868] synonym: "neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline" EXACT [OMIM:618868] xref: OMIM:618868 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0030029 @@ -422317,7 +422268,7 @@ synonym: "SDJLABA" EXACT ABBREVIATION [OMIM:618870] synonym: "SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE" EXACT [OMIM:618870] synonym: "skeletal dysplasia, mild, with joint laxity and advanced bone age" EXACT [OMIM:618870] xref: OMIM:618870 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0030030 @@ -422326,7 +422277,7 @@ synonym: "NIZIDS" EXACT ABBREVIATION [OMIM:618872] synonym: "NIZON-ISIDOR SYNDROME" EXACT [OMIM:618872] synonym: "nizon-isidor syndrome" EXACT [OMIM:618872] xref: OMIM:618872 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0030031 @@ -422356,7 +422307,7 @@ synonym: "SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS synonym: "seizures, early-onset, with neurodegeneration and brain calcifications" EXACT [OMIM:618875] synonym: "SENEBAC" EXACT ABBREVIATION [OMIM:618875] xref: OMIM:618875 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -422376,7 +422327,7 @@ synonym: "Leuden Syndrome" EXACT [OMIM:618877] synonym: "LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME" EXACT [OMIM:618877] synonym: "leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome" EXACT [OMIM:618877] xref: OMIM:618877 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0030036 @@ -422386,7 +422337,7 @@ synonym: "Lemspad Syndrome" EXACT [OMIM:618878] synonym: "LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME" EXACT [OMIM:618878] synonym: "leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome" EXACT [OMIM:618878] xref: OMIM:618878 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0030037 @@ -422396,7 +422347,7 @@ synonym: "NEDHCAS" EXACT ABBREVIATION [OMIM:618879] synonym: "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES" EXACT [OMIM:618879] synonym: "neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures" EXACT [OMIM:618879] xref: OMIM:618879 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0024321 {source="https://orcid.org/0000-0001-6330-7526"} ! disorder of GPI anchor biosynthesis is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8965 {source="OMIM:618879"} ! PIGK @@ -422409,7 +422360,7 @@ synonym: "GLAUCOMA, PRIMARY CLOSED-ANGLE" EXACT [OMIM:618880] synonym: "glaucoma, primary closed-angle" EXACT [OMIM:618880] synonym: "GLCC" EXACT ABBREVIATION [OMIM:618880] xref: OMIM:618880 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0030042 @@ -422418,7 +422369,7 @@ synonym: "PROCHOB" EXACT ABBREVIATION [OMIM:618884] synonym: "PROTEINURIA, CHRONIC BENIGN" EXACT [OMIM:618884] synonym: "proteinuria, chronic benign" EXACT [OMIM:618884, OMIM:genemap2] xref: OMIM:618884 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -422464,7 +422415,7 @@ synonym: "NEDBASS" EXACT ABBREVIATION [OMIM:618890] synonym: "NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY" EXACT [OMIM:618890] synonym: "neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity" EXACT [OMIM:618890] xref: OMIM:618890 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI @@ -422475,7 +422426,7 @@ synonym: "MDBH" EXACT ABBREVIATION [OMIM:618891] synonym: "MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME" EXACT [OMIM:618891] synonym: "microcephaly, developmental delay, and brittle hair syndrome" EXACT [OMIM:618891] xref: OMIM:618891 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0030048 @@ -422497,7 +422448,7 @@ synonym: "46,xx sex reversal 5" EXACT [OMIM:618901] synonym: "SRXX5" EXACT ABBREVIATION [OMIM:618901] xref: DOID:0080943 {source="MONDO:equivalentTo"} xref: OMIM:618901 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0030051 @@ -422506,7 +422457,7 @@ synonym: "IDDALDS" EXACT ABBREVIATION [OMIM:618906] synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES" EXACT [OMIM:618906] synonym: "intellectual developmental disorder with autistic features and language delay, with or without seizures" EXACT [OMIM:618906] xref: OMIM:618906 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0030052 @@ -422536,7 +422487,7 @@ synonym: "SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY" EXACT [O synonym: "sorbitol dehydrogenase deficiency with peripheral neuropathy" EXACT [OMIM:618912] synonym: "SORDD" EXACT ABBREVIATION [OMIM:618912] xref: OMIM:618912 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0030056 @@ -422556,7 +422507,7 @@ synonym: "NEDJED" EXACT ABBREVIATION [OMIM:618914] synonym: "NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME" EXACT [OMIM:618914] synonym: "neurodevelopmental, jaw, eye, and digital syndrome" EXACT [OMIM:618914] xref: OMIM:618914 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0030058 @@ -422589,7 +422540,7 @@ synonym: "NEDLIB" EXACT ABBREVIATION [OMIM:618917] synonym: "NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES" EXACT [OMIM:618917] synonym: "neurodevelopmental disorder with language impairment and behavioral abnormalities" EXACT [OMIM:618917] xref: OMIM:618917 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI @@ -422623,7 +422574,7 @@ synonym: "neurodevelopmental disorder with seizures, hypotonia, and brain abnorm synonym: "NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES" EXACT [OMIM:618922] synonym: "neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities" EXACT [OMIM:618922] xref: OMIM:618922 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -422645,7 +422596,7 @@ synonym: "AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME" EX synonym: "agenesis of corpus callosum, cardiac, ocular, and genital syndrome" EXACT [OMIM:618929] xref: DOID:0080948 {source="MONDO:equivalentTo"} xref: OMIM:618929 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0030066 @@ -422698,7 +422649,7 @@ synonym: "retinitis pigmentosa 89" EXACT [OMIM:618955] synonym: "RP89" EXACT ABBREVIATION [OMIM:618955] xref: DOID:0112146 {source="MONDO:equivalentTo"} xref: OMIM:618955 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0030072 @@ -422735,7 +422686,7 @@ synonym: "spondylometaphyseal dysplasia with corneal dystrophy" EXACT [OMIM:6189 xref: DOID:0112303 {source="MONDO:equivalentTo"} xref: OMIM:618961 {source="MONDO:equivalentTo"} xref: Orphanet:589435 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0030077 @@ -424627,7 +424578,7 @@ id: MONDO:0030835 name: developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy synonym: "DIGFAN" EXACT ABBREVIATION [OMIM:619090] xref: OMIM:619090 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0030837 @@ -424710,7 +424661,7 @@ id: MONDO:0030849 name: intellectual developmental disorder with speech delay and axonal peripheral neuropathy synonym: "IDDSAPN" EXACT ABBREVIATION [OMIM:619099] xref: OMIM:619099 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0030852 @@ -424718,7 +424669,7 @@ name: neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and synonym: "NEDFASB" EXACT ABBREVIATION [OMIM:619103] synonym: "neurodevelopmental disorder wtih dysmorphic facies, sleep disturbance, and brain abnormalities" EXACT [OMIM:619103, OMIM:genemap2] xref: OMIM:619103 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -424813,7 +424764,7 @@ id: MONDO:0030866 name: neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities synonym: "NEDCASB" EXACT ABBREVIATION [OMIM:619121] xref: OMIM:619121 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI @@ -424861,7 +424812,7 @@ name: vertebral hypersegmentation and orofacial anomalies synonym: "VHO" EXACT ABBREVIATION [OMIM:619122] xref: DOID:0070418 {source="MONDO:equivalentTo"} xref: OMIM:619122 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0030872 @@ -424877,7 +424828,7 @@ id: MONDO:0030873 name: cardiofacioneurodevelopmental syndrome synonym: "CFNDS" EXACT ABBREVIATION [OMIM:619123] xref: OMIM:619123 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0030875 @@ -424911,14 +424862,14 @@ id: MONDO:0030878 name: Kaya-Barakat-Masson syndrome synonym: "KABAMAS" EXACT ABBREVIATION [OMIM:619125] xref: OMIM:619125 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0030880 name: mandibuloacral dysplasia progeroid syndrome synonym: "MDPS" EXACT ABBREVIATION [OMIM:619127] xref: OMIM:619127 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0030881 @@ -424984,7 +424935,7 @@ id: MONDO:0030893 name: leukoencephalopathy, progressive, infantile-onset, with or without deafness synonym: "LEPID" EXACT ABBREVIATION [OMIM:619147] xref: OMIM:619147 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0030894 @@ -425020,7 +424971,7 @@ id: MONDO:0030897 name: Lessel-Kreienkamp syndrome synonym: "LESKRES" EXACT ABBREVIATION [OMIM:619149] xref: OMIM:619149 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0030898 @@ -425049,7 +425000,7 @@ id: MONDO:0030900 name: intellectual developmental disorder with paroxysmal dyskinesia or seizures synonym: "IDDPADS" EXACT ABBREVIATION [OMIM:619150] xref: OMIM:619150 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0030902 @@ -425443,7 +425394,7 @@ id: MONDO:0030930 name: neurodevelopmental disorder with or without early-onset generalized epilepsy synonym: "NEDEGE" EXACT ABBREVIATION [OMIM:619157] xref: OMIM:619157 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI @@ -425533,7 +425484,7 @@ synonym: "CONRIBA" EXACT ABBREVIATION [OMIM:619173] synonym: "neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities" EXACT [OMIM:619173, OMIM:genemap2] xref: OMIM:619173 {source="MONDO:equivalentTo"} xref: Orphanet:610573 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -425587,7 +425538,7 @@ id: MONDO:0030963 name: Li-Campeau syndrome synonym: "LICAS" EXACT ABBREVIATION [OMIM:619189] xref: OMIM:619189 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0030964 @@ -425611,14 +425562,14 @@ name: neurofacioskeletal syndrome with or without renal agenesis synonym: "Neurodevelopmental Disorder With Corpus Callosum Agenesis, Craniofacial Dysmorphism, and Skeletal Anomalies, With or Without Renal Agenesis" EXACT [OMIM:619194] synonym: "NFSRA" EXACT ABBREVIATION [OMIM:619194] xref: OMIM:619194 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0030967 name: deafness, congenital, and adult-onset progressive leukoencephalopathy synonym: "DEAPLE" EXACT ABBREVIATION [OMIM:619196] xref: OMIM:619196 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0030968 @@ -425696,14 +425647,14 @@ id: MONDO:0030976 name: oculomotor-abducens synkinesis synonym: "OCABSN" EXACT ABBREVIATION [OMIM:619215] xref: OMIM:619215 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0030977 name: neuropathy, hereditary motor, with myopathic features synonym: "HMNMYO" EXACT ABBREVIATION [OMIM:619216] xref: OMIM:619216 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0030978 @@ -425711,7 +425662,7 @@ name: endove syndrome, limb-only type synonym: "ENDOVESL" EXACT ABBREVIATION [OMIM:619217] synonym: "Mesomelia of Lower Extremities With Hand and Foot Anomalies" EXACT [OMIM:619217] xref: OMIM:619217 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0036192 {source="https://orcid.org/0000-0001-5208-3432"} ! EN1-related dorsoventral syndrome [Term] @@ -425720,7 +425671,7 @@ name: endove syndrome, limb-brain type synonym: "ENDOVESLB" EXACT ABBREVIATION [OMIM:619218] synonym: "Mesomelia of Lower Extremities With Hand, Foot, and Brain Anomalies" EXACT [OMIM:619218] xref: OMIM:619218 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0036192 {source="https://orcid.org/0000-0001-5208-3432"} ! EN1-related dorsoventral syndrome [Term] @@ -425777,7 +425728,7 @@ id: MONDO:0030986 name: blistering, acantholytic, of oral and laryngeal mucosa synonym: "ABOLM" EXACT ABBREVIATION [OMIM:619226] xref: OMIM:619226 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0030987 @@ -425785,14 +425736,14 @@ name: vertebral, cardiac, tracheoesophageal, renal, and limb defects synonym: "VCTERL" EXACT ABBREVIATION [OMIM:619227] synonym: "VCTERL syndrome" EXACT [OMIM:619227] xref: OMIM:619227 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0030988 name: developmental delay with dysmorphic facies and dental anomalies synonym: "DEFDA" EXACT ABBREVIATION [OMIM:619228] xref: OMIM:619228 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0030989 @@ -425808,21 +425759,21 @@ id: MONDO:0030990 name: Kohlschutter-Tonz syndrome-like synonym: "KTZSL" EXACT ABBREVIATION [OMIM:619229] xref: OMIM:619229 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0030991 name: bile acid conjugation defect 1 synonym: "BACD1" EXACT ABBREVIATION [OMIM:619232] xref: OMIM:619232 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0030992 name: short stature, oligodontia, dysmorphic facies, and motor delay synonym: "SOFM" EXACT ABBREVIATION [OMIM:619234] xref: OMIM:619234 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0030993 @@ -425838,7 +425789,7 @@ name: neurodevelopmental disorder with or without autism or seizures synonym: "NEDAUS" EXACT ABBREVIATION [OMIM:619239] synonym: "neurodevelopmental disorder with or without autism or seizures" EXACT CLINGEN_PREFERRED [] xref: OMIM:619239 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI @@ -425847,7 +425798,7 @@ id: MONDO:0030995 name: global developmental delay with speech and behavioral abnormalities synonym: "GDSBA" EXACT ABBREVIATION [OMIM:619243] xref: OMIM:619243 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0030996 @@ -425885,7 +425836,7 @@ id: MONDO:0030999 name: neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism synonym: "NEDCAFD" EXACT ABBREVIATION [OMIM:619244] xref: OMIM:619244 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI @@ -425902,7 +425853,7 @@ id: MONDO:0031001 name: vitreoretinopathy with phalangeal epiphyseal dysplasia synonym: "VPED" EXACT ABBREVIATION [OMIM:619248] xref: OMIM:619248 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0031002 @@ -425910,7 +425861,7 @@ name: Baralle-Macken syndrome synonym: "BARMACS" EXACT ABBREVIATION [OMIM:619255] synonym: "neurodevelopmental disorder with cataracts and variable microcephaly" EXACT [OMIM:619255] xref: OMIM:619255 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0031003 @@ -425936,7 +425887,7 @@ id: MONDO:0031006 name: neurodegeneration with ataxia and late-onset optic atrophy synonym: "NDAXOA" EXACT ABBREVIATION [OMIM:619259] xref: OMIM:619259 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0031007 @@ -425948,7 +425899,7 @@ synonym: "spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual xref: DOID:0112290 {source="MONDO:equivalentTo"} xref: OMIM:619260 {source="MONDO:equivalentTo"} xref: Orphanet:611207 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0800101 {source="https://clinicalgenome.org/affiliation/40072/"} ! NMNAT1-related retinopathy relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -425990,7 +425941,7 @@ id: MONDO:0031011 name: neurodevelopmental disorder with dysmorphic facies and variable seizures synonym: "NEDDFAS" EXACT ABBREVIATION [OMIM:619264] xref: OMIM:619264 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI @@ -431230,7 +431181,7 @@ id: MONDO:0033304 name: nonsyndromic deafness, Y-linked xref: DOID:0111757 {source="MONDO:equivalentTo"} xref: OMIMPS:400043 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease intersection_of: MONDO:0019497 ! nonsyndromic genetic hearing loss intersection_of: has_characteristic HP:0001450 ! Y-linked inheritance relationship: has_characteristic MONDO:0021152 {source="OMIMPS:400043"} ! inherited @@ -431686,7 +431637,7 @@ name: Suleiman-El-Hattab syndrome synonym: "SULEHS" RELATED ABBREVIATION [OMIM:618950] synonym: "SULEIMAN-EL-HATTAB SYNDROME" RELATED [OMIM:618950] xref: OMIM:618950 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0033533 @@ -431696,7 +431647,7 @@ synonym: "COXPD45" RELATED ABBREVIATION [OMIM:618951] xref: DOID:0112113 {source="MONDO:equivalentTo"} xref: OMIM:618951 {source="MONDO:equivalentTo"} is_a: MONDO:0000732 {source="OMIM:618951"} ! combined oxidative phosphorylation deficiency -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0033534 @@ -431707,7 +431658,7 @@ synonym: "COXPD46" RELATED ABBREVIATION [OMIM:618952] xref: DOID:0112115 {source="MONDO:equivalentTo"} xref: OMIM:618952 {source="MONDO:equivalentTo"} is_a: MONDO:0000732 {source="OMIM:618952"} ! combined oxidative phosphorylation deficiency -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -431718,7 +431669,7 @@ synonym: "COXPD47" RELATED ABBREVIATION [OMIM:618958] xref: DOID:0112114 {source="MONDO:equivalentTo"} xref: OMIM:618958 {source="MONDO:equivalentTo"} is_a: MONDO:0000732 {source="OMIM:618958"} ! combined oxidative phosphorylation deficiency -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0033541 @@ -431730,7 +431681,7 @@ synonym: "immunodeficiency 69, mycobacteriosis" EXACT [OMIM:618963, OMIM:genemap synonym: "Immunodeficiency 69, Mycobacteriosis, Autosomal Recessive" RELATED [OMIM:618963] xref: DOID:0112006 {source="MONDO:equivalentTo"} xref: OMIM:618963 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0021094 {source="OMIM:618963"} ! immunodeficiency disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -431741,7 +431692,7 @@ synonym: "IMD70" RELATED ABBREVIATION [OMIM:618969] synonym: "IMMUNODEFICIENCY 70" RELATED [OMIM:618969] xref: DOID:0112005 {source="MONDO:equivalentTo"} xref: OMIM:618969 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0021094 {source="OMIM:618969"} ! immunodeficiency disease [Term] @@ -431750,7 +431701,7 @@ name: cone-rod synaptic disorder syndrome, congenital nonprogressive synonym: "CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE" RELATED [OMIM:618970] synonym: "CRSDS" RELATED ABBREVIATION [OMIM:618970] xref: OMIM:618970 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -431762,7 +431713,7 @@ synonym: "intellectual developmental disorder With behavioural abnormalities and synonym: "TOLCAS" RELATED ABBREVIATION [OMIM:618971] synonym: "TOLCHIN-LE CAIGNEC SYNDROME" RELATED [OMIM:618971] xref: OMIM:618971 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0033545 @@ -431770,7 +431721,7 @@ name: mitochondrial DNA depletion syndrome 19 synonym: "MITOCHONDRIAL DNA DEPLETION SYNDROME 19" RELATED [OMIM:618972] synonym: "MTDPS19" RELATED ABBREVIATION [OMIM:618972] xref: OMIM:618972 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0018158 {source="OMIM:618972"} ! mitochondrial DNA depletion syndrome [Term] @@ -431781,7 +431732,7 @@ synonym: "NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE" RELATED [OMIM:6 synonym: "Smvt Deficiency" RELATED [OMIM:618973] synonym: "Sodium-Dependent Multivitamin Transporter Deficiency" RELATED [OMIM:618973] xref: OMIM:618973 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0033547 @@ -431790,7 +431741,7 @@ synonym: "LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME" RELATED [OMIM:618974] synonym: "Li-Ghorgani-Weisz-Hubshman syndrome" EXACT [OMIM:618974, OMIM:genemap2] synonym: "LIGOWS" RELATED ABBREVIATION [OMIM:618974] xref: OMIM:618974 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -431801,7 +431752,7 @@ synonym: "Myopathy, Congenital, Due to Myod1 Deficiency" RELATED [OMIM:618975] synonym: "MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES" RELATED [OMIM:618975] xref: DOID:0081349 {source="MONDO:equivalentTo"} xref: OMIM:618975 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0019952 {source="OMIM:618975"} ! congenital myopathy relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -431813,7 +431764,7 @@ synonym: "OPA12" RELATED ABBREVIATION [OMIM:618977] synonym: "OPTIC ATROPHY 12" RELATED [OMIM:618977] xref: DOID:0080840 {source="MONDO:equivalentTo"} xref: OMIM:618977 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0043878 {source="OMIM:618977"} ! hereditary optic atrophy [Term] @@ -431831,7 +431782,7 @@ synonym: "IMD72" RELATED ABBREVIATION [OMIM:618982] synonym: "IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION" RELATED [OMIM:618982] xref: DOID:0112015 {source="MONDO:equivalentTo"} xref: OMIM:618982 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0021094 {source="OMIM:618982"} ! immunodeficiency disease [Term] @@ -431856,7 +431807,7 @@ synonym: "IMD73B" EXACT ABBREVIATION [OMIM:618986] synonym: "immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia" EXACT [OMIM:618986] xref: DOID:0112061 {source="MONDO:equivalentTo"} xref: OMIM:618986 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0017855 {source="PMID:31953710"} ! T-B- severe combined immunodeficiency is_a: MONDO:0021094 {source="OMIM:618986"} ! immunodeficiency disease @@ -431867,7 +431818,7 @@ synonym: "IMD73C" EXACT ABBREVIATION [OMIM:618987] synonym: "IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA" EXACT [OMIM:618987] xref: DOID:0112062 {source="MONDO:equivalentTo"} xref: OMIM:618987 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0017855 {source="PMID:31953710"} ! T-B- severe combined immunodeficiency is_a: MONDO:0021094 {source="OMIM:618987"} ! immunodeficiency disease @@ -431880,7 +431831,7 @@ synonym: "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELL xref: DOID:0112376 {source="MONDO:equivalentTo"} xref: OMIM:618992 {source="MONDO:equivalentTo"} is_a: MONDO:0000172 {source="OMIM:618992"} ! muscular dystrophy-dystroglycanopathy, type B -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -431891,7 +431842,7 @@ synonym: "FHL6" RELATED ABBREVIATION [OMIM:618998] synonym: "HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 6" RELATED [OMIM:618998] synonym: "immune dysregulation and systemic hyperinflammation syndrome" EXACT [OMIM:618998, OMIM:genemap2] xref: OMIM:618998 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0015541 {source="OMIM:618998"} ! hereditary hemophagocytic lymphohistiocytosis property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -431902,7 +431853,7 @@ synonym: "AIIDE" RELATED ABBREVIATION [OMIM:618999] synonym: "Atopic Dermatitis, Enteritis, Colitis, and Eosinophilia" RELATED [OMIM:618999] synonym: "AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA" RELATED [OMIM:618999] xref: OMIM:618999 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0033559 @@ -431910,7 +431861,7 @@ name: intellectual developmental disorder with seizures and language delay synonym: "IDDSELD" RELATED ABBREVIATION [OMIM:619000] synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY" RELATED [OMIM:619000] xref: OMIM:619000 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0033560 @@ -431919,7 +431870,7 @@ synonym: "MC1DN35" RELATED ABBREVIATION [OMIM:619003] synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35" RELATED [OMIM:619003] xref: DOID:0112139 {source="MONDO:equivalentTo"} xref: OMIM:619003 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0033561 @@ -431928,7 +431879,7 @@ synonym: "DEEAH" RELATED ABBREVIATION [OMIM:619004] synonym: "DEEAH SYNDROME" RELATED [OMIM:619004] synonym: "Developmental Delay With Endocrine, Exocrine, Autonomic, and Hematologic Abnormalities" RELATED [OMIM:619004] xref: OMIM:619004 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0033562 @@ -431937,7 +431888,7 @@ synonym: "NEDDISH" RELATED ABBREVIATION [OMIM:619005] synonym: "neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia" EXACT [OMIM:619005, OMIM:genemap2] synonym: "NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA" RELATED [OMIM:619005] xref: OMIM:619005 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -431949,7 +431900,7 @@ synonym: "RETINITIS PIGMENTOSA 90" RELATED [OMIM:619007] synonym: "RP90" RELATED ABBREVIATION [OMIM:619007] xref: DOID:0112147 {source="MONDO:equivalentTo"} xref: OMIM:619007 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0019200 {source="OMIM:619007"} ! retinitis pigmentosa [Term] @@ -431958,7 +431909,7 @@ name: oocyte maturation defect 8 synonym: "OOCYTE MATURATION DEFECT 8" RELATED [OMIM:619009] synonym: "OOMD8" RELATED ABBREVIATION [OMIM:619009] xref: OMIM:619009 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0014769 {source="OMIM:619009"} ! inherited oocyte maturation defect [Term] @@ -431967,7 +431918,7 @@ name: oocyte maturation defect 9 synonym: "OOCYTE MATURATION DEFECT 9" RELATED [OMIM:619011] synonym: "OOMD9" RELATED ABBREVIATION [OMIM:619011] xref: OMIM:619011 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0014769 {source="OMIM:619011"} ! inherited oocyte maturation defect [Term] @@ -431978,7 +431929,7 @@ synonym: "COXPD48" RELATED ABBREVIATION [OMIM:619012] xref: DOID:0112112 {source="MONDO:equivalentTo"} xref: OMIM:619012 {source="MONDO:equivalentTo"} is_a: MONDO:0000732 {source="OMIM:619012"} ! combined oxidative phosphorylation deficiency -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0033569 @@ -431987,7 +431938,7 @@ synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49" RELATED [OMIM:619024 synonym: "COXPD49" RELATED ABBREVIATION [OMIM:619024] xref: DOID:0112110 {source="MONDO:equivalentTo"} xref: OMIM:619024 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0033570 @@ -431996,7 +431947,7 @@ synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50" RELATED [OMIM:619025 synonym: "COXPD50" RELATED ABBREVIATION [OMIM:619025] xref: DOID:0112111 {source="MONDO:equivalentTo"} xref: OMIM:619025 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0033571 @@ -432016,7 +431967,7 @@ name: intellectual developmental disorder with epilepsy, behavioral abnormalitie synonym: "IDDEBF" RELATED ABBREVIATION [OMIM:619031] synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES" RELATED [OMIM:619031] xref: OMIM:619031 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0033613 @@ -432045,7 +431996,7 @@ name: spastic paraplegia 83, autosomal recessive synonym: "SPG83" EXACT ABBREVIATION [OMIM:619027] xref: DOID:0112346 {source="MONDO:equivalentTo"} xref: OMIM:619027 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0019064 {source="OMIM:619027"} ! hereditary spastic paraplegia [Term] @@ -432054,7 +432005,7 @@ name: coenzyme q10 deficiency, primary, 9 synonym: "COQ10D9" EXACT ABBREVIATION [OMIM:619028] xref: DOID:0112138 {source="MONDO:equivalentTo"} xref: OMIM:619028 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0018151 {source="OMIM:619028"} ! coenzyme Q10 deficiency intersection_of: MONDO:0018151 ! coenzyme Q10 deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28722 ! COQ5 @@ -432064,14 +432015,14 @@ id: MONDO:0033618 name: Vissers-Bodmer syndrome synonym: "VIBOS" EXACT ABBREVIATION [OMIM:619033] xref: OMIM:619033 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0033619 name: myopathy, epilepsy, and progressive cerebral atrophy synonym: "MEPCA" EXACT ABBREVIATION [OMIM:619036] xref: OMIM:619036 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0033620 @@ -432079,7 +432030,7 @@ name: myofibrillar myopathy 10 synonym: "MFM10" EXACT ABBREVIATION [OMIM:619040] xref: DOID:0112108 {source="MONDO:equivalentTo"} xref: OMIM:619040 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0018943 {source="OMIM:619040"} ! myofibrillar myopathy intersection_of: MONDO:0018943 ! myofibrillar myopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11480 ! SVIL @@ -432089,7 +432040,7 @@ id: MONDO:0033621 name: spinal muscular atrophy, infantile, James type synonym: "SMAJI" EXACT ABBREVIATION [OMIM:619042] xref: OMIM:619042 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0033622 @@ -432097,7 +432048,7 @@ name: spermatogenic failure 44 synonym: "SPGF44" EXACT ABBREVIATION [OMIM:619044] xref: DOID:0112109 {source="MONDO:equivalentTo"} xref: OMIM:619044 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0004983 {source="OMIM:619044"} ! spermatogenic failure intersection_of: MONDO:0004983 ! spermatogenic failure intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28514 ! CEP112 @@ -432109,7 +432060,7 @@ name: neurodevelopmental disorder with speech impairment and dysmorphic facies synonym: "NEDSID" EXACT ABBREVIATION [OMIM:619056] xref: DOID:0070417 {source="MONDO:equivalentTo"} xref: OMIM:619056 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI @@ -432120,7 +432071,7 @@ synonym: "COXPD51" EXACT ABBREVIATION [OMIM:619057] xref: DOID:0112137 {source="MONDO:equivalentTo"} xref: OMIM:619057 {source="MONDO:equivalentTo"} is_a: MONDO:0000732 {source="OMIM:619057"} ! combined oxidative phosphorylation deficiency -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24717 ! PTCD3 @@ -432130,7 +432081,7 @@ name: mitochondrial complex 4 deficiency, nuclear type 3 synonym: "MC4DN3" EXACT ABBREVIATION [OMIM:619046] synonym: "mitochondrial complex IV deficiency, nuclear type 3" EXACT [OMIM:619046, OMIM:genemap2] xref: OMIM:619046 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0033885 {source="OMIM:619046"} ! mitochondrial complex IV deficiency, nuclear-type property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -432140,7 +432091,7 @@ name: mitochondrial complex 4 deficiency, nuclear type 4 synonym: "MC4DN4" EXACT ABBREVIATION [OMIM:619048] synonym: "mitochondrial complex IV deficiency, nuclear type 4" EXACT [OMIM:619048, OMIM:genemap2] xref: OMIM:619048 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0033885 {source="OMIM:619048"} ! mitochondrial complex IV deficiency, nuclear-type property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -432150,7 +432101,7 @@ name: mitochondrial complex 4 deficiency, nuclear type 7 synonym: "MC4DN7" EXACT ABBREVIATION [OMIM:619051] synonym: "mitochondrial complex IV deficiency, nuclear type 7" EXACT [OMIM:619051, OMIM:genemap2] xref: OMIM:619051 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0033885 {source="OMIM:619051"} ! mitochondrial complex IV deficiency, nuclear-type property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -432160,7 +432111,7 @@ name: mitochondrial complex 4 deficiency, nuclear type 8 synonym: "MC4DN8" EXACT ABBREVIATION [OMIM:619052] synonym: "mitochondrial complex IV deficiency, nuclear type 8" EXACT [OMIM:619052, OMIM:genemap2] xref: OMIM:619052 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0033885 {source="OMIM:619052"} ! mitochondrial complex IV deficiency, nuclear-type property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -432170,7 +432121,7 @@ name: mitochondrial complex 4 deficiency, nuclear type 10 synonym: "MC4DN10" EXACT ABBREVIATION [OMIM:619053] synonym: "mitochondrial complex IV deficiency, nuclear type 10" EXACT [OMIM:619053, OMIM:genemap2] xref: OMIM:619053 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0033885 {source="OMIM:619053"} ! mitochondrial complex IV deficiency, nuclear-type property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -432179,7 +432130,7 @@ id: MONDO:0033640 name: vitamin D-dependent rickets, type 3 synonym: "VDDR3" EXACT ABBREVIATION [OMIM:619073] xref: OMIM:619073 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0024299 {source="OMIM:619073"} ! vitamin D-dependent rickets [Term] @@ -432187,7 +432138,7 @@ id: MONDO:0033641 name: cleft palate, proliferative retinopathy, and developmental delay synonym: "CPPRDD" EXACT ABBREVIATION [OMIM:619074] xref: OMIM:619074 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0033642 @@ -432198,7 +432149,7 @@ synonym: "global developmental delay-alopecia-macrocephaly-facial dysmorphism-st synonym: "NEDABA" EXACT ABBREVIATION [OMIM:619075] xref: OMIM:619075 {source="MONDO:equivalentTo"} xref: Orphanet:544488 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder is_a: MONDO:0800159 {source="PMID:33340416"} ! disorder of polyamine metabolism relationship: excluded_subClassOf MONDO:0017356 {source="Orphanet:544488"} ! inborn disorder of ornithine metabolism @@ -432215,7 +432166,7 @@ synonym: "IBD30" EXACT ABBREVIATION [OMIM:619079] synonym: "inflammatory bowel disease (Crohn disease) 30" EXACT [OMIM:619079, OMIM:genemap2] xref: DOID:0112154 {source="MONDO:equivalentTo"} xref: OMIM:619079 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005265 {source="OMIM:619079"} ! inflammatory bowel disease intersection_of: MONDO:0005265 ! inflammatory bowel disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17057 ! CARD8 @@ -432226,7 +432177,7 @@ id: MONDO:0033644 name: microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 synonym: "MRCS1" EXACT ABBREVIATION [OMIM:619082] xref: OMIM:619082 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0033645 @@ -432234,7 +432185,7 @@ name: mitochondrial complex 4 deficiency, nuclear type 11 synonym: "MC4DN11" EXACT ABBREVIATION [OMIM:619054] synonym: "mitochondrial complex IV deficiency, nuclear type 11" EXACT [OMIM:619054, OMIM:genemap2] xref: OMIM:619054 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0033885 {source="OMIM:619054"} ! mitochondrial complex IV deficiency, nuclear-type property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -432244,7 +432195,7 @@ name: mitochondrial complex 4 deficiency, nuclear type 12 synonym: "MC4DN12" EXACT ABBREVIATION [OMIM:619055] synonym: "mitochondrial complex IV deficiency, nuclear type 12" EXACT [OMIM:619055, OMIM:genemap2] xref: OMIM:619055 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0033885 {source="OMIM:619055"} ! mitochondrial complex IV deficiency, nuclear-type property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -432254,7 +432205,7 @@ name: mitochondrial complex 4 deficiency, nuclear type 14 synonym: "MC4DN14" EXACT ABBREVIATION [OMIM:619058] synonym: "mitochondrial complex IV deficiency, nuclear type 14" EXACT [OMIM:619058, OMIM:genemap2] xref: OMIM:619058 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0033885 {source="OMIM:619058"} ! mitochondrial complex IV deficiency, nuclear-type property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -432264,7 +432215,7 @@ name: mitochondrial complex 4 deficiency, nuclear type 15 synonym: "MC4DN15" EXACT ABBREVIATION [OMIM:619059] synonym: "mitochondrial complex IV deficiency, nuclear type 15" EXACT [OMIM:619059, OMIM:genemap2] xref: OMIM:619059 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0033885 {source="OMIM:619059"} ! mitochondrial complex IV deficiency, nuclear-type property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -432274,7 +432225,7 @@ name: mitochondrial complex 4 deficiency, nuclear type 16 synonym: "MC4DN16" EXACT ABBREVIATION [OMIM:619060] synonym: "mitochondrial complex IV deficiency, nuclear type 16" EXACT [OMIM:619060, OMIM:genemap2] xref: OMIM:619060 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0033885 {source="OMIM:619060"} ! mitochondrial complex IV deficiency, nuclear-type property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -432284,7 +432235,7 @@ name: mitochondrial complex 4 deficiency, nuclear type 17 synonym: "MC4DN17" EXACT ABBREVIATION [OMIM:619061] synonym: "mitochondrial complex IV deficiency, nuclear type 17" EXACT [OMIM:619061, OMIM:genemap2] xref: OMIM:619061 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0033885 {source="OMIM:619061"} ! mitochondrial complex IV deficiency, nuclear-type property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -432294,7 +432245,7 @@ name: mitochondrial complex 4 deficiency, nuclear type 18 synonym: "MC4DN18" EXACT ABBREVIATION [OMIM:619062] synonym: "mitochondrial complex IV deficiency, nuclear type 18" EXACT [OMIM:619062, OMIM:genemap2] xref: OMIM:619062 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0033885 {source="OMIM:619062"} ! mitochondrial complex IV deficiency, nuclear-type property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -432304,7 +432255,7 @@ name: mitochondrial complex 4 deficiency, nuclear type 19 synonym: "MC4DN19" EXACT ABBREVIATION [OMIM:619063] synonym: "mitochondrial complex IV deficiency, nuclear type 19" EXACT [OMIM:619063, OMIM:genemap2] xref: OMIM:619063 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0033885 {source="OMIM:619063"} ! mitochondrial complex IV deficiency, nuclear-type property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -432314,7 +432265,7 @@ name: mitochondrial complex 4 deficiency, nuclear type 20 synonym: "MC4DN20" EXACT ABBREVIATION [OMIM:619064] synonym: "mitochondrial complex IV deficiency, nuclear type 20" EXACT [OMIM:619064, OMIM:genemap2] xref: OMIM:619064 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0033885 {source="OMIM:619064"} ! mitochondrial complex IV deficiency, nuclear-type property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -432324,7 +432275,7 @@ name: mitochondrial complex 4 deficiency, nuclear type 21 synonym: "MC4DN21" EXACT ABBREVIATION [OMIM:619065] synonym: "mitochondrial complex IV deficiency, nuclear type 21" EXACT [OMIM:619065, OMIM:genemap2] xref: OMIM:619065 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0033885 {source="OMIM:619065"} ! mitochondrial complex IV deficiency, nuclear-type property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -432334,7 +432285,7 @@ name: leukodystrophy, hypomyelinating, 20 synonym: "HLD20" EXACT ABBREVIATION [OMIM:619071] xref: DOID:0112153 {source="MONDO:equivalentTo"} xref: OMIM:619071 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0019046 {source="OMIM:619071"} ! leukodystrophy [Term] @@ -432342,7 +432293,7 @@ id: MONDO:0033658 name: neurodevelopmental disorder with seizures and brain atrophy synonym: "NEDSEBA" EXACT ABBREVIATION [OMIM:619072] xref: OMIM:619072 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI @@ -432351,7 +432302,7 @@ id: MONDO:0033662 name: neurodevelopmental disorder with microcephaly, seizures, and brain atrophy synonym: "NEDMISB" EXACT ABBREVIATION [OMIM:619076] xref: OMIM:619076 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI @@ -432361,7 +432312,7 @@ name: Kilquist syndrome def: "An autosomal recessive multisystem disorder characterized by neurologic, gastrointestinal, and secretory dysfunction. Affected individuals present at birth with hypotonia, feeding difficulties, mild dysmorphic features, and sensorineural hearing loss. They show poor overall growth associated with gastrointestinal anomalies such as gastroesophageal reflux or midgut malrotation, as well as profound global developmental delay with inability to sit or speak. Tear, sweat, and saliva production is also impaired, causing dry mouth and recurrent bronchial mucus plugging. Some of the clinical features are reminiscent of cystic fibrosis." [OMIM:619080, PMID:30740830, PMID:32754646] synonym: "KILQS" EXACT ABBREVIATION [OMIM:619080] xref: OMIM:619080 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0033665 @@ -432370,7 +432321,7 @@ synonym: "deafness, autosomal dominant 78" NARROW [OMIM:619081, OMIM:genemap2] synonym: "DFNA78" NARROW ABBREVIATION [OMIM:619081] xref: DOID:0112159 {source="MONDO:equivalentTo"} xref: OMIM:619081 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0019587 {source="OMIM:619081"} ! autosomal dominant nonsyndromic hearing loss property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -432380,7 +432331,7 @@ id: MONDO:0033667 name: Delpire-McNeill syndrome synonym: "DELMNES" EXACT ABBREVIATION [OMIM:619083] xref: OMIM:619083 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0033668 @@ -432389,7 +432340,7 @@ synonym: "deafness, autosomal dominant 79" NARROW [OMIM:619086, OMIM:genemap2] synonym: "DFNA79" NARROW ABBREVIATION [OMIM:619086] xref: DOID:0112160 {source="MONDO:equivalentTo"} xref: OMIM:619086 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0019587 {source="OMIM:619086"} ! autosomal dominant nonsyndromic hearing loss property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -432401,7 +432352,7 @@ synonym: "NS13" EXACT ABBREVIATION [OMIM:619087] xref: DOID:0112161 {source="MONDO:equivalentTo"} xref: NCIT:C177121 {source="MONDO:equivalentTo"} xref: OMIM:619087 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0018997 {source="OMIM:619087"} ! Noonan syndrome [Term] @@ -432411,7 +432362,7 @@ synonym: "deafness, autosomal recessive 116" NARROW [OMIM:619093, OMIM:genemap2] synonym: "DFNB116" NARROW ABBREVIATION [OMIM:619093] xref: DOID:0112162 {source="MONDO:equivalentTo"} xref: OMIM:619093 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0019588 {source="OMIM:619093"} ! hearing loss, autosomal recessive property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -432422,7 +432373,7 @@ name: spermatogenic failure 45 synonym: "SPGF45" EXACT ABBREVIATION [OMIM:619094] xref: DOID:0112163 {source="MONDO:equivalentTo"} xref: OMIM:619094 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0004983 {source="OMIM:619094"} ! spermatogenic failure [Term] @@ -432443,7 +432394,7 @@ name: spermatogenic failure 46 synonym: "SPGF46" EXACT ABBREVIATION [OMIM:619095] xref: DOID:0112164 {source="MONDO:equivalentTo"} xref: OMIM:619095 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0004983 {source="OMIM:619095"} ! spermatogenic failure [Term] @@ -437712,7 +437663,7 @@ synonym: "male sterility due to Y-chromosome deletions" RELATED [GARD:0000185] synonym: "Y chromosome infertility" RELATED [GARD:0000185] synonym: "Y chromosome microdeletions" RELATED [GARD:0000185] xref: HGNC:2682 {source="MONDO:otherHierarchy", source="GARD:0000185"} -is_a: MONDO:0005372 {source="https://orcid.org/0000-0003-1967-3726"} ! male infertility +is_a: MONDO:0005372 {source="https://orcid.org/0000-0001-5208-3432"} ! male infertility relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2682 ! DAZ1 [Term] @@ -439801,7 +439752,7 @@ xref: MESH:C564893 {source="MONDO:equivalentTo"} xref: OMIM:261500 {source="MONDO:equivalentTo", source="GARD:0012361"} xref: SCTID:711160007 {source="MONDO:equivalentTo"} xref: UMLS:C1850000 {source="MONDO:equivalentTo", source="OMIM:261500"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0004805 {source="MESH:C564893"} ! leukocyte disorder is_a: MONDO:0006025 ! autosomal recessive disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -441610,7 +441561,7 @@ name: foveal hypoplasia def: "Underdevelopment of the fovea centralis." [HP:0007750] synonym: "FVH" RELATED ABBREVIATION [MONDO:Lexical] xref: OMIMPS:136520 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_characteristic MONDO:0021152 {source="OMIMPS:136520"} ! inherited [Term] @@ -442649,7 +442600,7 @@ synonym: "congenital heart defects, dysmorphic FACIAL features, and intellectual xref: DOID:0112247 {source="MONDO:equivalentTo"} xref: OMIM:617360 {source="MONDO:equivalentTo"} xref: UMLS:C4479246 {source="MONDO:equivalentTo", source="OMIM:617360"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0044303 @@ -442658,7 +442609,7 @@ synonym: "CHDED" RELATED ABBREVIATION [OMIM:617364] synonym: "congenital heart defects and ectodermal dysplasia" EXACT [OMIM:617364] xref: OMIM:617364 {source="MONDO:equivalentTo"} xref: UMLS:C4479250 {source="MONDO:equivalentTo", source="OMIM:617364"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -442754,7 +442705,7 @@ synonym: "Macinnes syndrome" RELATED [OMIM:617412] xref: DOID:0070415 {source="MONDO:equivalentTo"} xref: OMIM:617412 {source="MONDO:equivalentTo"} xref: UMLS:C4479431 {source="OMIM:617412", source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0044312 @@ -442763,7 +442714,7 @@ synonym: "IMMUNOSKELETAL dysplasia with neurodevelopmental abnormalities" RELATE synonym: "ISDNA" RELATED ABBREVIATION [OMIM:617425] xref: OMIM:617425 {source="MONDO:equivalentTo"} xref: UMLS:C4479452 {source="OMIM:617425", source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0016761 {source="PMID:31633310"} ! spondyloepiphyseal dysplasia property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -442812,7 +442763,7 @@ synonym: "THAMY" RELATED ABBREVIATION [OMIM:617441] synonym: "thrombocytopenia, anemia, and myelofibrosis" EXACT CLINGEN_PREFERRED [OMIM:617441] xref: OMIM:617441 {source="MONDO:equivalentTo"} xref: UMLS:C4479504 {source="MONDO:equivalentTo", source="OMIM:617441"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0044317 @@ -442873,7 +442824,7 @@ synonym: "SHDRA" RELATED ABBREVIATION [OMIM:617478] synonym: "structural heart defects and renal anomalies syndrome" EXACT [OMIM:617478] xref: OMIM:617478 {source="MONDO:equivalentTo"} xref: UMLS:C4479549 {source="OMIM:617478", source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0015161 {source="https://orcid.org/0000-0002-0736-9199", source="https://orcid.org/0000-0002-1780-5230"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6024" xsd:anyURI @@ -443543,7 +443494,7 @@ synonym: "IOLOD" EXACT ABBREVIATION [OMIM:616921] xref: OMIM:616921 {source="MONDO:equivalentTo", source="Orphanet:494526"} xref: Orphanet:494526 {source="MONDO:equivalentTo"} xref: UMLS:C5567464 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0015990 {source="Orphanet:494526"} ! focal, segmental or multifocal dystonia relationship: has_characteristic HP:0003593 ! Infantile onset relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8772 {source="MONDO:mim2gene_medgen"} ! PDE10A @@ -443667,7 +443618,7 @@ xref: DOID:0070423 {source="MONDO:equivalentTo"} xref: OMIM:617193 {source="Orphanet:496641", source="MONDO:equivalentTo"} xref: Orphanet:496641 {source="MONDO:equivalentTo"} xref: UMLS:C4310671 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0015159 {source="Orphanet:496641"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0024237 {source="Orphanet:496641"} ! inherited neurodegenerative disorder is_a: MONDO:0100198 {source="https://orcid.org/0000-0001-5208-3432"} ! Mendelian encephalopathy @@ -443776,7 +443727,7 @@ synonym: "periodic fever, menstrual cycle-dependent" EXACT [MONDO:0013850, OMIM: xref: OMIM:614674 {source="MONDO:equivalentTo"} xref: Orphanet:498251 {source="MONDO:equivalentTo"} xref: UMLS:C3553418 {source="OMIM:614674", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0015860 {source="Orphanet:498251"} ! anomaly of puberty or/and menstrual cycle relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5286 {source="MONDO:mim2gene_medgen"} ! HTR1A property_value: confidence "2.5986147714285717" xsd:double @@ -448147,7 +448098,7 @@ synonym: "amyotonia congenita" EXACT [OMIM:205000] synonym: "Oppenheim disease" RELATED [OMIM:205000] xref: OMIM:205000 {source="MONDO:equivalentTo"} xref: UMLS:C0002735 {source="OMIM:205000", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0060455 @@ -448168,7 +448119,7 @@ xref: MESH:C564449 {source="MONDO:equivalentTo"} xref: OMIM:302700 {source="MONDO:equivalentTo"} xref: Orphanet:43 {source="OMIM:302700"} xref: UMLS:C1844884 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:302700"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0060457 @@ -448177,7 +448128,7 @@ synonym: "AIADK" RELATED ABBREVIATION [OMIM:617388] synonym: "AUTOINFLAMMATION with arthritis and dyskeratosis" RELATED [OMIM:617388] xref: OMIM:617388 {source="MONDO:equivalentTo"} xref: UMLS:C4479278 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:617388"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0060486 @@ -448188,7 +448139,7 @@ xref: DOID:0080978 {source="MONDO:equivalentTo"} xref: OMIM:617468 {source="MONDO:equivalentTo"} xref: Orphanet:2680 {source="OMIM:617468"} xref: UMLS:C4479539 {source="OMIM:617468", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0015168 {source="OMIM:617468"} ! arthrogryposis multiplex congenita intersection_of: MONDO:0015168 ! arthrogryposis multiplex congenita intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18712 ! LGI4 @@ -448217,7 +448168,7 @@ xref: ICD10CM:Q07.8 {source="Orphanet:544469", source="MONDO:mondoSubClassOfSour xref: OMIM:617481 {source="Orphanet:544469", source="MONDO:equivalentTo"} xref: Orphanet:544469 {source="MONDO:equivalentTo"} xref: UMLS:C4479566 {source="MONDO:equivalentTo", source="OMIM:617481"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13420 ! PRUNE1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI @@ -448232,7 +448183,7 @@ xref: DOID:0112276 {source="MONDO:equivalentTo"} xref: OMIM:617493 {source="MONDO:equivalentTo"} xref: Orphanet:1934 {source="OMIM:617493"} xref: UMLS:C4479569 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:617493"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI @@ -448244,7 +448195,7 @@ synonym: "NEDHND" RELATED ABBREVIATION [OMIM:617519] synonym: "neurodevelopmental disorder with hypotonia, neuropathy, and deafness" EXACT [OMIM:617519] xref: OMIM:617519 {source="MONDO:equivalentTo"} xref: UMLS:C4479603 {source="MONDO:equivalentTo", source="OMIM:617519"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI @@ -448257,7 +448208,7 @@ synonym: "neurodevelopmental disorder with progressive microcephaly, spasticity, xref: OMIM:617527 {source="MONDO:equivalentTo", source="Orphanet:521426"} xref: Orphanet:521426 {source="MONDO:equivalentTo"} xref: UMLS:C4479631 {source="OMIM:617527", source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0015159 {source="Orphanet:521426"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI @@ -448270,7 +448221,7 @@ synonym: "retinal dystrophy with macular staphyloma" EXACT [OMIM:617547, OMIM:ge synonym: "retinal dystrophy with or without macular staphyloma" EXACT [OMIM:617547] xref: OMIM:617547 {source="MONDO:equivalentTo"} xref: UMLS:C4479651 {source="OMIM:617547", source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -448280,7 +448231,7 @@ synonym: "COGIS" RELATED ABBREVIATION [OMIM:617561] synonym: "Cohen-Gibson syndrome" EXACT [OMIM:617561] xref: OMIM:617561 {source="MONDO:equivalentTo"} xref: UMLS:C4479654 {source="MONDO:equivalentTo", source="OMIM:617561"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0060527 @@ -448292,7 +448243,7 @@ synonym: "MAAID" RELATED ABBREVIATION [OMIM:617596] synonym: "maleylacetoacetate isomerase deficiency" EXACT CLINGEN_PREFERRED [OMIM:617596, OMIM:genemap2] xref: OMIM:617596 {source="MONDO:equivalentTo"} xref: UMLS:C1291607 {source="MONDO:equivalentTo", source="OMIM:617596"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -448302,7 +448253,7 @@ synonym: "CHDSKM" RELATED ABBREVIATION [OMIM:617602] synonym: "congenital heart defects and skeletal malformations syndrome" EXACT [OMIM:617602] xref: OMIM:617602 {source="MONDO:equivalentTo"} xref: UMLS:C4539857 {source="OMIM:617602", source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0060533 @@ -448312,7 +448263,7 @@ synonym: "MISSLA" RELATED ABBREVIATION [OMIM:617604] xref: OMIM:617604 {source="MONDO:equivalentTo"} xref: Orphanet:572773 {source="MONDO:equivalentTo"} xref: UMLS:C4539873 {source="OMIM:617604", source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0060549 @@ -448322,7 +448273,7 @@ synonym: "congenital anomalies of kidney and urinary tract syndrome with or with xref: DOID:0112359 {source="MONDO:equivalentTo"} xref: OMIM:617641 {source="MONDO:equivalentTo"} xref: UMLS:C4539968 {source="MONDO:equivalentTo", source="OMIM:617641"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0060550 @@ -448331,7 +448282,7 @@ synonym: "PAPA7" RELATED ABBREVIATION [OMIM:617642] synonym: "polydactyly, postaxial, type A7" RELATED [OMIM:617642] xref: OMIM:617642 {source="MONDO:equivalentTo"} xref: UMLS:C4539976 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:617642"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0019673 ! postaxial polydactyly type A [Term] @@ -448341,7 +448292,7 @@ synonym: "CADEDS" RELATED ABBREVIATION [OMIM:617643] synonym: "cerebellar atrophy, developmental delay, and seizures" EXACT [OMIM:617643] xref: OMIM:617643 {source="MONDO:equivalentTo"} xref: UMLS:C4539985 {source="OMIM:617643", source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0060554 @@ -448352,7 +448303,7 @@ synonym: "VCRL1" RELATED ABBREVIATION [OMIM:617660] synonym: "vertebral, cardiac, renal, and limb defects syndrome 1" EXACT CLINGEN_PREFERRED [OMIM:617660] xref: OMIM:617660 {source="MONDO:equivalentTo"} xref: UMLS:C4540004 {source="MONDO:equivalentTo", source="OMIM:617660"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0800075 {source="PMID:31633310"} ! dysostosis with predominant vertebral with and without costal involvement intersection_of: MONDO:0020831 ! congenital vertebral-cardiac-renal anomalies syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4796 ! HAAO @@ -448381,7 +448332,7 @@ synonym: "joint laxity, short stature, and myopia" EXACT [OMIM:617662] xref: OMIM:617662 {source="MONDO:equivalentTo", source="Orphanet:527450"} xref: Orphanet:527450 {source="MONDO:equivalentTo"} xref: UMLS:C4540020 {source="MONDO:equivalentTo", source="OMIM:617662"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0019755 {source="MONDO:0015332-obsoleted"} ! developmental defect during embryogenesis is_a: MONDO:0800086 {source="PMID:31633310"} ! primary bone dysplasia with multiple joint dislocations relationship: excluded_subClassOf MONDO:0019700 {source="Orphanet:527450"} ! obsolete primary bone dysplasia with multiple joint dislocations @@ -448412,7 +448363,7 @@ synonym: "hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyos xref: OMIM:617671 {source="MONDO:equivalentTo"} xref: Orphanet:528105 {source="MONDO:equivalentTo"} xref: UMLS:C4522164 {source="MONDO:equivalentTo", source="OMIM:617671"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005240 {source="MONDO:0019744-obsoleted"} ! kidney disorder is_a: MONDO:0015962 {source="Orphanet:528105"} ! inherited renal tubular disease relationship: has_characteristic HP:0000007 {source="Orphanet:528105"} ! Autosomal recessive inheritance @@ -448428,7 +448379,7 @@ synonym: "PILBOS" RELATED ABBREVIATION [OMIM:617682] xref: OMIM:617682 {source="MONDO:equivalentTo", source="Orphanet:529965"} xref: Orphanet:529965 {source="MONDO:equivalentTo"} xref: UMLS:C4540131 {source="MONDO:equivalentTo", source="OMIM:617682"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0015159 {source="Orphanet:529965"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: has_characteristic HP:0000006 {source="Orphanet:529965"} ! Autosomal dominant inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1915 {source="Orphanet:529965"} ! CHD1 @@ -448440,7 +448391,7 @@ synonym: "NEDMAS" RELATED ABBREVIATION [OMIM:617709] synonym: "neurodevelopmental disorder with microcephaly, ataxia, and seizures" EXACT [OMIM:617709] xref: OMIM:617709 {source="MONDO:equivalentTo"} xref: UMLS:C4540188 {source="MONDO:equivalentTo", source="OMIM:617709"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI @@ -448452,7 +448403,7 @@ synonym: "neurodevelopmental disorder, mitochondrial, with abnormal movements an xref: OMIM:617710 {source="MONDO:equivalentTo"} xref: Orphanet:572798 {source="MONDO:equivalentTo"} xref: UMLS:C4540192 {source="OMIM:617710", source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI @@ -448465,7 +448416,7 @@ synonym: "auditory neuropathy and optic atrophy" RELATED [OMIM:617717] xref: OMIM:617717 {source="Orphanet:542585", source="MONDO:equivalentTo"} xref: Orphanet:542585 {source="MONDO:equivalentTo"} xref: UMLS:C4521678 {source="MONDO:equivalentTo", source="OMIM:617717"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0044970 ! mitochondrial disease relationship: has_characteristic HP:0000007 {source="Orphanet:542585"} ! Autosomal recessive inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3642 {source="Orphanet:542585"} ! FDXR @@ -448479,7 +448430,7 @@ synonym: "PLTEID" RELATED ABBREVIATION [OMIM:617718] xref: DOID:0112004 {source="MONDO:equivalentTo"} xref: OMIM:617718 {source="MONDO:equivalentTo"} xref: UMLS:C4540232 {source="MONDO:equivalentTo", source="OMIM:617718"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -448501,7 +448452,7 @@ synonym: "facial palsy, congenitla, with ptosis and velopharyngeal dysfunction" synonym: "FPVEPD" RELATED ABBREVIATION [OMIM:617732] xref: OMIM:617732 {source="MONDO:equivalentTo"} xref: UMLS:C4540277 {source="OMIM:617732", source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -448513,7 +448464,7 @@ synonym: "IMDDHH" RELATED ABBREVIATION [OMIM:617744] synonym: "immunodeficiency, developmental delay, and hypohomocysteinemia" EXACT [OMIM:617744] xref: OMIM:617744 {source="MONDO:equivalentTo"} xref: UMLS:C4540293 {source="OMIM:617744", source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0060592 @@ -448524,7 +448475,7 @@ xref: DOID:0080538 {source="MONDO:equivalentTo"} xref: OMIM:617746 {source="MONDO:equivalentTo"} xref: UMLS:C4540299 {source="OMIM:617746", source="MONDO:equivalentTo"} is_a: MONDO:0002254 ! syndromic disease -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0060593 @@ -448551,7 +448502,7 @@ synonym: "neurodevelopmental disorder with dysmorphic facies and distal limb ano xref: OMIM:617755 {source="Orphanet:528084", source="MONDO:equivalentTo"} xref: Orphanet:528084 {source="MONDO:equivalentTo"} xref: UMLS:C4540327 {source="OMIM:617755", source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3581 {source="Orphanet:528084"} ! BPTF property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI @@ -448564,7 +448515,7 @@ synonym: "combined immunodeficiency and megaloblastic anemia with or without hyp synonym: "methylenetetrahydrofolate dehydrogenase 1 deficiency" RELATED [OMIM:617780] xref: OMIM:617780 {source="MONDO:equivalentTo"} xref: UMLS:C4540434 {source="MONDO:equivalentTo", source="OMIM:617780"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0060621 @@ -448573,7 +448524,7 @@ synonym: "NDMSCA" RELATED ABBREVIATION [OMIM:617802] synonym: "neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy" EXACT [OMIM:617802] xref: OMIM:617802 {source="MONDO:equivalentTo"} xref: UMLS:C4540493 {source="OMIM:617802", source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI @@ -448584,7 +448535,7 @@ synonym: "NEDMIAL" RELATED ABBREVIATION [OMIM:617804] synonym: "neurodevelopmental disorder with severe motor impairment and absent language" EXACT [OMIM:617804] xref: OMIM:617804 {source="MONDO:equivalentTo"} xref: UMLS:C4540496 {source="MONDO:equivalentTo", source="OMIM:617804"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI @@ -448595,7 +448546,7 @@ synonym: "NDAGSCW" RELATED ABBREVIATION [OMIM:617807] synonym: "neurodevelopmental disorder with ataxic GAIT, absent speech, and decreased cortical WHITE matter" RELATED [OMIM:617807] xref: OMIM:617807 {source="MONDO:equivalentTo"} xref: UMLS:C4540498 {source="MONDO:equivalentTo", source="OMIM:617807"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI @@ -448610,7 +448561,7 @@ synonym: "GPIBD15" RELATED ABBREVIATION [OMIM:617810] xref: OMIM:617810 {source="MONDO:equivalentTo", source="Orphanet:529665"} xref: Orphanet:529665 {source="MONDO:equivalentTo"} xref: UMLS:C4540520 {source="OMIM:617810", source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0015159 {source="Orphanet:529665"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0024321 {source="https://orcid.org/0000-0001-6330-7526"} ! disorder of GPI anchor biosynthesis relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation @@ -448625,7 +448576,7 @@ synonym: "NDHMSR" RELATED ABBREVIATION [OMIM:617820] synonym: "neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive" EXACT [OMIM:617820] xref: OMIM:617820 {source="MONDO:equivalentTo"} xref: UMLS:CN737161 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI @@ -448639,7 +448590,7 @@ xref: OMIM:617822 {source="MONDO:equivalentTo"} xref: Orphanet:610569 {source="MONDO:equivalentTo"} xref: UMLS:CN737163 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 ! syndromic disease -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0060640 @@ -448648,7 +448599,7 @@ synonym: "NEDMEBA" RELATED ABBREVIATION [OMIM:617862] synonym: "neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy" EXACT [OMIM:617862] xref: OMIM:617862 {source="MONDO:equivalentTo"} xref: UMLS:CN787271 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI @@ -448659,7 +448610,7 @@ synonym: "NEDSGA" RELATED ABBREVIATION [OMIM:617864] synonym: "neurodevelopmental disorder with or without seizures and gait abnormalities" EXACT [OMIM:617864] xref: OMIM:617864 {source="MONDO:equivalentTo"} xref: UMLS:CN800195 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI @@ -448670,7 +448621,7 @@ synonym: "NEDMAGA" RELATED ABBREVIATION [OMIM:617865] synonym: "neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features" EXACT [OMIM:617865] xref: OMIM:617865 {source="MONDO:equivalentTo"} xref: UMLS:CN800196 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI @@ -448691,7 +448642,7 @@ synonym: "Leber congenital amaurosis with early-onset deafness" EXACT CLINGEN_PR xref: DOID:0112240 {source="MONDO:equivalentTo"} xref: OMIM:617879 {source="MONDO:equivalentTo"} xref: UMLS:CN807950 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0018998 {source="https://orcid.org/0000-0001-5208-3432"} ! Leber congenital amaurosis relationship: disease_has_feature HP:0000365 ! Hearing impairment relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -448704,7 +448655,7 @@ synonym: "NDPLHS" RELATED ABBREVIATION [OMIM:617903] synonym: "neurodevelopmental disorder with poor language and loss of hand skills" EXACT [OMIM:617903] xref: OMIM:617903 {source="MONDO:equivalentTo"} xref: Orphanet:3095 {source="OMIM:617903"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI @@ -448715,7 +448666,7 @@ synonym: "DBAL" RELATED ABBREVIATION [OMIM:617911] synonym: "Diamond-Blackfan anemia-like" EXACT [OMIM:617911] xref: OMIM:617911 {source="MONDO:equivalentTo"} xref: UMLS:CN873436 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: disease_shares_features_of MONDO:0015253 ! Diamond-Blackfan anemia [Term] @@ -448726,7 +448677,7 @@ synonym: "CONGENITAL heart defects, multiple types, 5" RELATED [OMIM:617912] xref: OMIM:617912 {source="MONDO:equivalentTo"} xref: UMLS:CN873437 {source="MONDO:equivalentTo"} is_a: MONDO:0000119 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital heart defects, multiple types -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -448738,7 +448689,7 @@ synonym: "neurodevelopmental disorder with microcephaly, cataracts, and renal ab xref: DOID:0081263 {source="MONDO:equivalentTo"} xref: OMIM:617913 {source="MONDO:equivalentTo"} xref: UMLS:CN889218 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI @@ -448749,7 +448700,7 @@ synonym: "HADDTS" RELATED ABBREVIATION [OMIM:617915] synonym: "hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome" EXACT [OMIM:617915] xref: OMIM:617915 {source="MONDO:equivalentTo"} xref: UMLS:CN895589 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0060670 @@ -448784,7 +448735,7 @@ name: chromosome 1p35 deletion syndrome synonym: "chromosome 1p35 deletion syndrome" EXACT [OMIM:617930] xref: OMIM:617930 {source="MONDO:equivalentTo"} xref: UMLS:CN244562 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0016883 {source="MONDO:cjm"} ! partial deletion of the short arm of chromosome 1 intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion intersection_of: disease_arises_from_structure CHR:9606-chr1p35 ! 1p35 (Human) @@ -448797,7 +448748,7 @@ synonym: "hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase synonym: "hyperthyroxinemia, euthyroid, due to decreased peripheral conversion of T4" RELATED [OMIM:617953] xref: OMIM:617953 {source="MONDO:equivalentTo"} xref: UMLS:CN244571 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0060690 @@ -448819,7 +448770,7 @@ synonym: "SEMDDR" RELATED ABBREVIATION [OMIM:617974] synonym: "spondyloepimetaphyseal dysplasia, Di Rocco type" RELATED [OMIM:617974] xref: OMIM:617974 {source="MONDO:equivalentTo"} xref: UMLS:CN244923 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0100510 {source="PMID:31633310"} ! spondyloepimetaphyseal dysplasia property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -448831,7 +448782,7 @@ synonym: "NEDSBAS" RELATED ABBREVIATION [OMIM:617977] synonym: "neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures" EXACT [OMIM:617977] xref: OMIM:617977 {source="MONDO:equivalentTo"} xref: UMLS:CN244929 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI @@ -448844,7 +448795,7 @@ xref: OMIM:617982 {source="MONDO:equivalentTo"} xref: Orphanet:580940 {source="MONDO:equivalentTo"} xref: UMLS:CN244927 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="https://clinicalgenome.org/affiliation/40006"} ! syndromic intellectual disability -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0060711 @@ -448854,7 +448805,7 @@ synonym: "Jaberi-Elahi syndrome" EXACT [OMIM:617988] xref: OMIM:617988 {source="MONDO:equivalentTo"} xref: UMLS:CN244943 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 ! syndromic disease -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0060712 @@ -448871,7 +448822,7 @@ synonym: "DCHE" RELATED ABBREVIATION [OMIM:617992] synonym: "deafnes, congenital heart defects, and posterior embryotoxon" RELATED [OMIM:617992] xref: MESH:C566604 {source="MONDO:equivalentTo"} xref: OMIM:617992 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0060714 @@ -448880,7 +448831,7 @@ synonym: "HFTC2" RELATED ABBREVIATION [OMIM:617993] synonym: "tumoral calcinosis, hyperphosphatemic, familial, 2" EXACT [OMIM:617993] xref: OMIM:617993 {source="MONDO:equivalentTo"} xref: Orphanet:306661 {source="OMIM:617993"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0018891 {source="OMIM:617993"} ! familial tumoral calcinosis is_a: MONDO:0800084 {source="PMID:31633310"} ! primary bone dysplasia with increased bone density property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -448892,7 +448843,7 @@ synonym: "HFTC3" RELATED ABBREVIATION [OMIM:617994] synonym: "tumoral calcinosis, hyperphosphatemic, familial, 3" EXACT [OMIM:617994] xref: OMIM:617994 {source="MONDO:equivalentTo"} xref: Orphanet:306661 {source="OMIM:617994"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0018891 {source="OMIM:617994"} ! familial tumoral calcinosis is_a: MONDO:0800084 {source="PMID:31633310"} ! primary bone dysplasia with increased bone density property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -448920,7 +448871,7 @@ synonym: "glycosylphosphatidylinositol biosynthesis defect 17" EXACT [OMIM:61801 synonym: "GPIBD17" RELATED ABBREVIATION [OMIM:618010] xref: OMIM:618010 {source="MONDO:equivalentTo"} xref: UMLS:CN248527 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: disease_has_basis_in_disruption_of GO:0006506 ! GPI anchor biosynthetic process [Term] @@ -448930,7 +448881,7 @@ synonym: "EPP2" RELATED ABBREVIATION [OMIM:618015] synonym: "protoporphyria, erythropoietic, 2" EXACT [OMIM:618015] xref: OMIM:618015 {source="MONDO:equivalentTo"} xref: UMLS:CN248523 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0019263 ! autosomal erythropoietic protoporphyria [Term] @@ -448942,7 +448893,7 @@ synonym: "tetraamelia syndrome 2 with pulmonary agenesis" RELATED [OMIM:618021] xref: DOID:0112193 {source="MONDO:equivalentTo"} xref: OMIM:618021 {source="MONDO:equivalentTo"} xref: Orphanet:3301 {source="OMIM:618021"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0010110 ! tetraamelia-multiple malformations syndrome is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -448955,7 +448906,7 @@ synonym: "HHRRD" RELATED ABBREVIATION [OMIM:618022] synonym: "humerofemoral hypoplasia with radiotibial ray deficiency" EXACT [OMIM:618022] xref: OMIM:618022 {source="MONDO:equivalentTo"} xref: UMLS:CN248526 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0060745 @@ -448964,7 +448915,7 @@ synonym: "IDDECA" RELATED ABBREVIATION [OMIM:618060] synonym: "intellectual developmental disorder with or without epilepsy or cerebellar ataxia" EXACT [OMIM:618060] xref: OMIM:618060 {source="MONDO:equivalentTo"} xref: UMLS:CN252646 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] id: MONDO:0060752 @@ -448973,7 +448924,7 @@ synonym: "NEDSG" RELATED ABBREVIATION [OMIM:618076] synonym: "neurodevelopmental disorder with spasticity and poor growth" EXACT [OMIM:618076] xref: DOID:0070421 {source="MONDO:equivalentTo"} xref: OMIM:618076 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI @@ -448983,7 +448934,7 @@ name: spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental de synonym: "SCA42ND" RELATED ABBREVIATION [OMIM:618087] synonym: "spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits" EXACT [OMIM:618087] xref: OMIM:618087 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0014776 ! spinocerebellar ataxia type 42 [Term] @@ -448997,7 +448948,7 @@ xref: DOID:0081327 {source="MONDO:equivalentTo"} xref: OMIM:618088 {source="MONDO:equivalentTo"} xref: Orphanet:597623 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14282 {source="Orphanet:597623"} ! IRF2BPL property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3541" xsd:anyURI @@ -449011,7 +448962,7 @@ synonym: "INTELLECTUAL developmental disorder with DYSMORPHIC facies and behavio 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 +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI [Term] @@ -449020,7 +448971,7 @@ name: neurodevelopmental disorder with epilepsy and hypoplasia of the corpus cal synonym: "NEDEHCC" RELATED ABBREVIATION [OMIM:618090] synonym: "neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum" EXACT [OMIM:618090] xref: OMIM:618090 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI @@ -449034,7 +448985,7 @@ synonym: "intellectual developmental disorder with dysmorphic facies, speech del synonym: "INTELLECTUAL developmental disorder with speech delay, DYSMORPHIC facies, and T-cell abnormalities" RELATED [OMIM:618092] xref: OMIM:618092 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0700120 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! BAFopathy relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13222 {source="OMIM:618092", source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! BCL11B property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3939" xsd:anyURI @@ -450239,7 +450190,7 @@ xref: ICD10CM:P50-P61 {source="https://github.com/monarch-initiative/mondo/issue xref: ICD10CM:P70-P74 {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:P76-P78 {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"} is_a: MONDO:0000001 {source="https://orcid.org/0000-0001-5208-3432"} ! disease -is_a: MONDO:0700096 ! human disease +is_a: MONDO:0700096 {source="https://orcid.org/0000-0001-5208-3432"} ! human disease property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] @@ -451761,7 +451712,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0100209 name: X inactivation, familial skewed comment: This is a placeholder class for what we expect will be a future OMIM grouping class (phenotypic series). -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] @@ -451900,7 +451851,7 @@ synonym: "AMC5" EXACT ABBREVIATION [OMIM:618947] synonym: "ARTHROGRYPOSIS MULTIPLEX CONGENITA 5" EXACT [OMIM:618947] xref: DOID:0080981 {source="MONDO:equivalentTo"} xref: OMIM:618947 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0015168 {source="OMIM:618947"} ! arthrogryposis multiplex congenita property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 @@ -451912,7 +451863,7 @@ synonym: "GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUT synonym: "growth hormone insensitivity with immune dysregulation 2, autosomal dominant" EXACT [OMIM:618985, OMIM:genemap2] xref: DOID:0080837 {source="MONDO:equivalentTo"} xref: OMIM:618985 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0100210 {source="OMIM:618985"} ! growth hormone insensitivity syndrome with immune dysregulation property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -451923,7 +451874,7 @@ name: Rajab interstitial lung disease with brain calcifications 2 synonym: "RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2" EXACT [OMIM:619013] synonym: "RILDBC2" EXACT ABBREVIATION [OMIM:619013] xref: OMIM:619013 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0100214 {source="OMIM:619013"} ! Rajab interstitial lung disease with brain calcifications property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 @@ -451935,7 +451886,7 @@ synonym: "ichthyosis follicularis, atrichia, and photophobia syndrome 2" EXACT [ synonym: "IFAP SYNDROME 2" EXACT [OMIM:619016] synonym: "IFAP2" EXACT ABBREVIATION [OMIM:619016] xref: OMIM:619016 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0100212 {source="OMIM:619016"} ! IFAP syndrome property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -456395,7 +456346,7 @@ subset: harrisons_view subset: rare_grouping xref: ICD10CM:O94-O9A {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"} is_a: MONDO:0000001 ! disease -is_a: MONDO:0700096 ! human disease +is_a: MONDO:0700096 {source="https://orcid.org/0000-0001-5208-3432"} ! human disease union_of: MONDO:0024575 ! pregnancy disorder union_of: MONDO:0044013 ! puerperal disorder property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 @@ -457663,7 +457614,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-414 id: MONDO:0700120 name: BAFopathy def: "Disorder caused by mutations in the various subunits composing the BAF complex." [PMID:30580808] -is_a: MONDO:0003847 ! hereditary disease +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3939" xsd:anyURI