From 400c9de193d857f1e584190caa84b12cd5c469c1 Mon Sep 17 00:00:00 2001 From: Nicole Vasilevsky Date: Mon, 25 Sep 2023 09:55:34 -0700 Subject: [PATCH] [mass Obsolete] children of urinary system disorder (#6698) * mass obsolete children of urinary system disorder close #6696 * reclassify children * reclassify terms * reclassify 'hereditary leiomyomatosis and renal cell cancer' * fix qc * update source * add source --- src/ontology/mondo-edit.obo | 381 +++++++++++++++--------------------- 1 file changed, 154 insertions(+), 227 deletions(-) diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index 3446a26fb0..3df000fdbc 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -1922,7 +1922,7 @@ is_a: MONDO:0005066 ! metabolic disease intersection_of: MONDO:0001566 ! hypercalcemia disease intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance intersection_of: has_characteristic HP:0003593 ! Infantile onset -relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:300547"} ! nephropathy secondary to a storage or other metabolic disease +relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:300547"} ! obsolete nephropathy secondary to a storage or other metabolic disease relationship: has_characteristic MONDO:0021152 {source="OMIMPS:143880"} ! inherited property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2926" xsd:anyURI @@ -25640,7 +25640,7 @@ is_a: MONDO:0015356 {source="MESH:D014402", source="NCIT:C3424/inferred"} ! here is_a: MONDO:0042983 {source="MESH:D014402", source="NCIT:C3424", source="https://www.hopkinsmedicine.org"} ! neurocutaneous syndrome relationship: disease_has_feature MONDO:0006499 {source="MESH:D014402"} ! hamartoma relationship: excluded_subClassOf MONDO:0016756 {source="Orphanet:805"} ! inherited nervous system cancer-predisposing syndrome -relationship: excluded_subClassOf MONDO:0017891 {source="Orphanet:805"} ! inherited renal cancer-predisposing syndrome +relationship: excluded_subClassOf MONDO:0017891 {source="Orphanet:805"} ! obsolete inherited renal cancer-predisposing syndrome relationship: excluded_subClassOf MONDO:0024237 {source="MESH:D014402"} ! inherited neurodegenerative disorder relationship: has_characteristic MONDO:0021152 {source="OMIMPS:191100"} ! inherited property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1489" xsd:anyURI @@ -37993,7 +37993,7 @@ is_a: MONDO:0002412 {source="DOID:2749", source="DOID:2749/inferred", source="IC is_a: MONDO:0005066 {source="Orphanet:364"} ! metabolic disease relationship: disease_disrupts GO:0004346 ! glucose-6-phosphatase activity relationship: disease_has_feature HP:0002240 ! Hepatomegaly -relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:364"} ! nephropathy secondary to a storage or other metabolic disease +relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:364"} ! obsolete nephropathy secondary to a storage or other metabolic disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015115"} ! rare [Term] @@ -39280,7 +39280,7 @@ is_a: MONDO:0003847 {source="MESH:D006960/inferred", source="MONDO:Redundant", s is_a: MONDO:0019214 {source="DOID:2977"} ! inborn carbohydrate metabolic disorder relationship: excluded_subClassOf MONDO:0005240 {source="DOID:2977", source="MESH:D006960/inferred", source="MONDO:Redundant"} ! kidney disorder relationship: excluded_subClassOf MONDO:0017703 {source="Orphanet:416", source="https://github.com/monarch-initiative/mondo/issues/2632"} ! disorder of glyoxylate metabolism -relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:416"} ! nephropathy secondary to a storage or other metabolic disease +relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:416"} ! obsolete nephropathy secondary to a storage or other metabolic disease relationship: has_characteristic MONDO:0021152 {source="OMIMPS:259900"} ! inherited [Term] @@ -54272,6 +54272,7 @@ xref: UMLS:C0346066 {source="NCIT:C4483", source="DOID:5147", source="MONDO:equi is_a: MONDO:0003291 {source="NCIT:C4483"} ! leiomyoma cutis intersection_of: MONDO:0001572 ! leiomyoma intersection_of: disease_has_location UBERON:0013718 ! dartos muscle +relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: excluded_subClassOf MONDO:0000383 {source="DOID:5147"} ! benign reproductive system neoplasm [Term] @@ -87591,7 +87592,7 @@ is_a: MONDO:0019340 {source="DOID:418", source="NCIT:C72070", source="Orphanet:9 relationship: disease_has_feature HP:0100324 ! Scleroderma relationship: excluded_subClassOf MONDO:0005087 {source="Orphanet:90291"} ! respiratory system disorder relationship: excluded_subClassOf MONDO:0016345 {source="Orphanet:90291"} ! non-familial restrictive cardiomyopathy -relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:90291"} ! secondary glomerular disease +relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:90291"} ! obsolete secondary glomerular disease [Term] id: MONDO:0005101 @@ -103619,7 +103620,7 @@ is_a: MONDO:0005554 {source="NCIT:C84892"} ! rheumatic disorder is_a: MONDO:0007179 {source="MONDO:Redundant", source="NCIT:C84892"} ! autoimmune disease is_a: MONDO:0016663 {source="Orphanet:809"} ! overlapping connective tissue disease relationship: excluded_subClassOf MONDO:0005172 {source="EFO:0007374"} ! skeletal system disorder -relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:809"} ! secondary glomerular disease +relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:809"} ! obsolete secondary glomerular disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7051/mixed-connective-tissue-disease" xsd:anyURI {source="GARD:0007051"} [Term] @@ -127328,7 +127329,7 @@ is_a: MONDO:0018634 {source="MESH:C538249", source="MONDO:Redundant", source="Or is_a: MONDO:0019052 {source="MESH:C538249/inferred", source="MONDO:Redundant", source="MONDO:indirect"} ! inborn errors of metabolism is_a: MONDO:0019065 {source="DOID:0050636", source="MESH:C538249/inferred", source="MONDO:Redundant", source="Orphanet:85450"} ! amyloidosis relationship: excluded_subClassOf MONDO:0005240 {source="Orphanet:85450/inferred"} ! kidney disorder -relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:85450"} ! secondary glomerular disease +relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:85450"} ! obsolete secondary glomerular disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0020030"} ! rare property_value: confidence "2.8461538461538467" xsd:double property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -129272,7 +129273,7 @@ relationship: excluded_subClassOf MONDO:0017260 {source="Orphanet:117"} ! obsole relationship: excluded_subClassOf MONDO:0017261 {source="Orphanet:117"} ! obsolete systemic diseases with panuveitis relationship: excluded_subClassOf MONDO:0017370 {source="Orphanet:117"} ! obsolete autoinflammatory syndrome with skin involvement relationship: excluded_subClassOf MONDO:0017957 {source="Orphanet:117"} ! obsolete unclassified autoinflammatory syndrome -relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:117"} ! secondary glomerular disease +relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:117"} ! obsolete secondary glomerular disease property_value: confidence "2.0" xsd:double [Term] @@ -134062,7 +134063,7 @@ xref: UMLS:C0343208 {source="MONDO:equivalentTo", source="Orphanet:91138"} xref: UMLS:C0543697 {source="Orphanet:91138/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:91138"} xref: UMLS:C1852456 {source="OMIM:123550", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:91138"} is_a: MONDO:0015491 {source="Orphanet:91138"} ! immune complex mediated vasculitis -relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:91138"} ! secondary glomerular disease +relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:91138"} ! obsolete secondary glomerular disease property_value: confidence "3.533333333333334" xsd:double [Term] @@ -136661,7 +136662,6 @@ xref: UMLS:C1851719 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:130650 is_a: MONDO:0005045 ! hypertrophic cardiomyopathy is_a: MONDO:0005267 ! heart disorder is_a: MONDO:0015356 {source="MONDO:Redundant", source="NCIT:C34415", source="Orphanet:116/inferred"} ! hereditary neoplastic syndrome -is_a: MONDO:0017891 {source="Orphanet:116"} ! inherited renal cancer-predisposing syndrome is_a: MONDO:0019716 {source="Orphanet:116"} ! overgrowth syndrome relationship: excluded_subClassOf MONDO:0015496 {source="Orphanet:116"} ! macroglossia relationship: excluded_subClassOf MONDO:0015501 {source="Orphanet:116"} ! obsolete syndrome or malformation associated with head and neck malformations @@ -138275,7 +138275,6 @@ xref: UMLS:C0346010 {source="OMIM:135150", source="Orphanet:122/e", source="NCIT is_a: MONDO:0000426 {source="DOID:0050676", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0015356 {source="MESH:D058249", source="MONDO:Redundant", source="NCIT:C28244", source="Orphanet:122/inferred"} ! hereditary neoplastic syndrome is_a: MONDO:0015950 {source="Orphanet:122"} ! inherited skin tumor -is_a: MONDO:0017891 {source="Orphanet:122"} ! inherited renal cancer-predisposing syndrome relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:122"} ! obsolete rare skin tumor or hamartoma relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:135150", source="Orphanet:122"} ! Autosomal dominant inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27310 {source="MONDO:mim2gene_medgen"} ! FLCN @@ -141101,7 +141100,6 @@ xref: Orphanet:2190 {source="MONDO:equivalentObsolete", source="OMIM:143400"} xref: SCTID:16297002 {source="MONDO:equivalentTo"} xref: UMLS:C0266316 {source="NCIT:C102979", source="MONDO:equivalentTo", source="Orphanet:2190", source="Orphanet:2190/e"} is_a: MONDO:0005510 {source="NCIT:C102979"} ! hydronephrosis -is_a: MONDO:0019720 {source="Orphanet:2190"} ! non-syndromic renal or urinary tract malformation 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 @@ -141242,9 +141240,7 @@ xref: OMIM:143870 {source="MONDO:equivalentTo"} xref: Orphanet:2197 {source="OMIM:143870"} xref: SCTID:237886009 {source="MONDO:equivalentTo"} xref: UMLS:C0342639 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:143870"} -is_a: MONDO:0016352 {source="MONDO:Redundant", source="Orphanet:2197/btnt"} ! idiopathic inherited hypercalciuria -intersection_of: MONDO:0016352 ! idiopathic inherited hypercalciuria -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21285 ! ADCY10 +is_a: MONDO:0002118 {source="https://orcid.org/0000-0001-5208-3432"} ! urinary system disorder relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21285 {source="MONDO:mim2gene_medgen"} ! ADCY10 property_value: confidence "29.33333333333344" xsd:double property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -141700,7 +141696,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0007768 name: hyperparathyroidism 2 with jaw tumors -def: "An autosomal dominant inherited syndrome characterized by the development of parathyroid adenoma or carcinoma, ossifying fibroma of the mandible and maxilla, renal neoplasms, and renal cysts." [NCIT:P378] +def: "An autosomal dominant inherited syndrome characterized by the development of parathyroid adenoma or carcinoma, ossifying fibroma of the mandible and maxilla, renal neoplasms, and renal cysts." [NCIT:C48287] subset: gard_rare {source="GARD:0010829"} subset: ordo_disease {source="Orphanet:99880"} synonym: "familial primary hyperparathyroidism with multiple ossifying jaw fibromas" RELATED [GARD:0010829] @@ -141729,7 +141725,6 @@ xref: UMLS:C1840394 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:145001 is_a: MONDO:0001741 {source="MONDO:Redundant", source="OMIM:145001"} ! hyperparathyroidism is_a: MONDO:0015356 {source="MONDO:Redundant", source="NCIT:C48287", source="Orphanet:99880/inferred"} ! hereditary neoplastic syndrome is_a: MONDO:0016365 {source="Orphanet:99880"} ! familial primary hyperparathyroidism -is_a: MONDO:0017891 {source="Orphanet:99880"} ! inherited renal cancer-predisposing syndrome is_a: MONDO:0800096 {source="PMID:31633310"} ! abnormal mineralization disorder property_value: confidence "3.533333333333334" xsd:double property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -144347,12 +144342,10 @@ xref: Orphanet:523 {source="OMIM:150800", source="MONDO:equivalentTo"} xref: UMLS:C1708350 {source="OMIM:150800", source="Orphanet:523", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="NCIT:C51302"} xref: UMLS:CN073087 {source="MONDO:equivalentTo"} xref: UMLS:CN239164 {source="MONDO:equivalentTo"} -is_a: MONDO:0003295 {source="MONDO:Redundant"} ! leiomyomatosis -is_a: MONDO:0015950 {source="Orphanet:523"} ! inherited skin tumor -is_a: MONDO:0017891 {source="Orphanet:523"} ! inherited renal cancer-predisposing syndrome +is_a: MONDO:0015356 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary neoplastic syndrome +relationship: excluded_subClassOf MONDO:0015950 {source="Orphanet:523"} ! inherited skin tumor relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:523"} ! obsolete rare skin tumor or hamartoma relationship: has_characteristic MONDO:0021152 ! inherited -property_value: confidence "4.277777777777778" xsd:double property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10096/hereditary-leiomyomatosis-and-renal-cell-cancer" xsd:anyURI {source="GARD:0010096"} @@ -144906,7 +144899,7 @@ xref: UMLS:C1835308 {source="OMIM:152700", source="MONDO:notFoundInDiseaseSubset xref: UMLS:C1835309 {source="OMIM:152700", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0000001 {source="Orphanet:536"} ! disease is_a: MONDO:0004670 {source="DOID:9074", source="NCIT:C3201"} ! lupus erythematosus -relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:536"} ! secondary glomerular disease +relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:536"} ! obsolete secondary glomerular disease relationship: excluded_subClassOf MONDO:0019737 {source="Orphanet:536"} ! thrombotic microangiopathy property_value: confidence "5.0" xsd:double property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -154629,7 +154622,6 @@ xref: Orphanet:47159 {source="MONDO:equivalentTo", source="OMIM:179830"} xref: SCTID:24790002 {source="MONDO:equivalentTo"} xref: UMLS:C0268435 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:179830", source="Orphanet:47159"} is_a: MONDO:0001909 {source="DC-OMIM:179830"} ! renal tubular acidosis -is_a: MONDO:0017828 {source="Orphanet:47159"} ! primary renal tubular acidosis property_value: confidence "3.377272727272727" xsd:double [Term] @@ -158204,7 +158196,7 @@ is_a: MONDO:0015488 {source="Orphanet:397"} ! predominantly large-vessel vasculi is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease intersection_of: MONDO:0000001 ! disease intersection_of: disease_has_inflammation_site UBERON:0001632 ! temporal artery -relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:397"} ! secondary glomerular disease +relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:397"} ! obsolete secondary glomerular disease property_value: confidence "3.166666666666668" xsd:double [Term] @@ -160095,7 +160087,7 @@ xref: UMLS:C1304205 {source="MONDO:equivalentTo"} is_a: MONDO:0000426 {source="DOID:0050854", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0016168 {source="OMIM:191900", source="Orphanet:575"} ! cryopyrin-associated periodic syndrome is_a: MONDO:0019751 {source="MONDO:Redundant", source="NCIT:C119054", source="Orphanet:575/inferred", source="PMID:23827249"} ! autoinflammatory syndrome -relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:575"} ! secondary glomerular disease +relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:575"} ! obsolete secondary glomerular disease relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:191900", source="Orphanet:575"} ! Autosomal dominant inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16400 {source="MONDO:mim2gene_medgen"} ! NLRP3 property_value: confidence "4.277777777777778" xsd:double @@ -160249,7 +160241,7 @@ is_a: MONDO:0002311 ! retinal vascular disorder is_a: MONDO:0018782 {source="Orphanet:247691"} ! type 1 interferonopathy is_a: MONDO:0019118 {source="Orphanet:247691"} ! inherited retinal dystrophy relationship: disease_has_feature MONDO:0019118 ! inherited retinal dystrophy -relationship: excluded_subClassOf MONDO:0019723 {source="Orphanet:247691"} ! disease of glomerular basement membrane +relationship: excluded_subClassOf MONDO:0019723 {source="Orphanet:247691"} ! obsolete disease of glomerular basement membrane relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12269 {source="MONDO:mim2gene_medgen"} ! TREX1 property_value: confidence "3.666666666666667" xsd:double property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -160749,7 +160741,7 @@ relationship: excluded_subClassOf MONDO:0005328 {source="MONDO:0020222-obsoleted relationship: excluded_subClassOf MONDO:0015079 {source="Orphanet:892"} ! multiple polyglandular tumor relationship: excluded_subClassOf MONDO:0015953 {source="Orphanet:892"} ! obsolete genetic central nervous system and retinal vascular disease relationship: excluded_subClassOf MONDO:0016756 {source="Orphanet:892"} ! inherited nervous system cancer-predisposing syndrome -relationship: excluded_subClassOf MONDO:0017891 {source="Orphanet:892"} ! inherited renal cancer-predisposing syndrome +relationship: excluded_subClassOf MONDO:0017891 {source="Orphanet:892"} ! obsolete inherited renal cancer-predisposing syndrome relationship: excluded_subClassOf MONDO:0019741 {source="Orphanet:892"} ! familial cystic renal disease relationship: excluded_subClassOf MONDO:0019755 ! developmental defect during embryogenesis relationship: excluded_subClassOf MONDO:0020676 {source="Orphanet:892"} ! obsolete disorder of central nervous system or retinal vasculature @@ -161134,11 +161126,9 @@ xref: UMLS:C0206115 {source="DOID:14515", source="NCIT:C3718", source="Orphanet: xref: UMLS:C2931803 {source="Orphanet:893/e", source="MONDO:equivalentTo", source="Orphanet:893"} is_a: MONDO:0000761 {source="DOID:14515"} ! syndrome caused by partial chromosomal deletion is_a: MONDO:0005151 ! endocrine system disorder -is_a: MONDO:0005328 {source="MONDO:0020222-obsoleted"} ! eye disorder is_a: MONDO:0015356 {source="MESH:D017624/inferred", source="MONDO:Redundant", source="NCIT:C3718", source="Orphanet:893/inferred"} ! hereditary neoplastic syndrome is_a: MONDO:0016565 {source="Orphanet:893"} ! syndromic genetic obesity is_a: MONDO:0016893 {source="Orphanet:893"} ! partial deletion of the short arm of chromosome 11 -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 relationship: disease_has_feature HP:0000526 ! Aniridia @@ -163591,7 +163581,7 @@ is_a: MONDO:0019507 {source="DOID:0110066", source="MESH:C538241", source="MONDO is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:1031", source="Orphanet:1031/inferred"} ! disorder of development or morphogenesis intersection_of: MONDO:0019507 ! amelogenesis imperfecta intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23015 ! FAM20A -relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:1031"} ! nephropathy secondary to a storage or other metabolic disease +relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:1031"} ! obsolete nephropathy secondary to a storage or other metabolic disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960"} ! rare relationship: has_characteristic MONDO:0021152 {source="OMIM:204690"} ! inherited relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23015 {source="MONDO:mim2gene_medgen"} ! FAM20A @@ -166210,7 +166200,7 @@ xref: SCTID:52403007 {source="EFO:1001211", source="MONDO:equivalentTo", source= xref: UMLS:C0040021 {source="OMIM:211480", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="DOID:12918", source="NCIT:C35070", source="Orphanet:36258"} is_a: MONDO:0005294 {source="DOID:12918", source="EFO:1001211", source="NCIT:C35070"} ! peripheral vascular disease is_a: MONDO:0015489 {source="Orphanet:36258"} ! predominantly medium-vessel vasculitis -relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:36258"} ! secondary glomerular disease +relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:36258"} ! obsolete secondary glomerular disease [Term] id: MONDO:0008890 @@ -170067,7 +170057,7 @@ is_a: MONDO:0019216 {source="PMID:33340416"} ! inborn disorder of amino acid tra is_a: MONDO:0100151 {source="EFO:0009049", source="MESH:C562683", source="Orphanet:411634"} ! nephropathic cystinosis intersection_of: MONDO:0100151 ! nephropathic cystinosis intersection_of: has_characteristic HP:0003621 ! Juvenile onset -relationship: excluded_subClassOf MONDO:0019743 {source="EFO:0009049/inferred", source="Orphanet:411634"} ! nephropathy secondary to a storage or other metabolic disease +relationship: excluded_subClassOf MONDO:0019743 {source="EFO:0009049/inferred", source="Orphanet:411634"} ! obsolete nephropathy secondary to a storage or other metabolic disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2518 {source="MONDO:mim2gene_medgen"} ! CTNS property_value: confidence "2.0384615384615383" xsd:double property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -173522,7 +173512,7 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o relationship: excluded_subClassOf MONDO:0005066 {source="Orphanet:2088"} ! metabolic disease relationship: excluded_subClassOf MONDO:0017706 {source="PMID:33340416"} ! disorder of carbohydrate transmembrane transport and absorption relationship: excluded_subClassOf MONDO:0019226 {source="Orphanet:2088"} ! glucose transport disorder -relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:2088"} ! nephropathy secondary to a storage or other metabolic disease +relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:2088"} ! obsolete nephropathy secondary to a storage or other metabolic disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015115"} ! rare relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11006 {source="MONDO:mim2gene_medgen"} ! SLC2A2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI @@ -174256,7 +174246,7 @@ is_a: MONDO:0019214 {source="DOID:9869", source="MONDO:Redundant", source="Orpha is_a: MONDO:0800152 {source="PMID:33340416"} ! disorder of galactose and fructose metabolism relationship: excluded_subClassOf MONDO:0015178 {source="Orphanet:469"} ! congenital intestinal transport defect relationship: excluded_subClassOf MONDO:0017706 {source="Orphanet:469"} ! disorder of carbohydrate transmembrane transport and absorption -relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:469"} ! nephropathy secondary to a storage or other metabolic disease +relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:469"} ! obsolete nephropathy secondary to a storage or other metabolic disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015115"} ! rare relationship: has_characteristic MONDO:0021152 {source="Orphanet:469"} ! inherited relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/417 {source="MONDO:mim2gene_medgen"} ! ALDOB @@ -175867,7 +175857,7 @@ is_a: MONDO:0006510 {source="DOID:9432", source="MESH:D006030"} ! renal tubular is_a: MONDO:0017706 {source="PMID:33340416"} ! disorder of carbohydrate transmembrane transport and absorption is_a: MONDO:0019226 {source="Orphanet:69076"} ! glucose transport disorder relationship: disease_has_feature HP:0003076 ! Glycosuria -relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:69076"} ! nephropathy secondary to a storage or other metabolic disease +relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:69076"} ! obsolete nephropathy secondary to a storage or other metabolic disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11037 {source="MONDO:mim2gene_medgen"} ! SLC5A2 property_value: confidence "3.533333333333334" xsd:double property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI @@ -176014,7 +176004,7 @@ relationship: disease_has_feature HP:0000099 ! Glomerulonephritis relationship: disease_has_feature HP:0002960 ! Autoimmunity relationship: excluded_subClassOf MONDO:0015490 {source="Orphanet:375"} ! predominantly small-vessel vasculitis relationship: excluded_subClassOf MONDO:0017035 {source="Orphanet:375"} ! obsolete secondary interstitial lung disease in childhood and adulthood associated with a systemic disease -relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:375"} ! secondary glomerular disease +relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:375"} ! obsolete secondary glomerular disease property_value: confidence "3.722222222222223" xsd:double property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2551/goodpasture-syndrome" xsd:anyURI {source="GARD:0002551"} @@ -176430,7 +176420,7 @@ relationship: excluded_subClassOf MONDO:0004736 {source="DOID:1060"} ! inborn di relationship: excluded_subClassOf MONDO:0005093 {source="MONDO:0019304-obsoleted"} ! skin disorder relationship: excluded_subClassOf MONDO:0015951 {source="Orphanet:2116"} ! hereditary photodermatosis relationship: excluded_subClassOf MONDO:0017687 {source="Orphanet:2116"} ! disorder of neutral amino acid transport -relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:2116"} ! nephropathy secondary to a storage or other metabolic disease +relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:2116"} ! obsolete nephropathy secondary to a storage or other metabolic disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27960 {source="MONDO:mim2gene_medgen"} ! SLC6A19 property_value: confidence "3.7222222222222223" xsd:double property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI @@ -178639,7 +178629,6 @@ xref: Orphanet:93604 {source="OMIM:241200", source="MONDO:directSiblingOf"} xref: SCTID:700109009 {source="MONDO:equivalentTo"} xref: UMLS:C1855849 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:241200"} is_a: MONDO:0015231 {source="DOID:0110143", source="MESH:C537651", source="MONDO:Redundant", source="OMIM:241200"} ! Bartter syndrome -is_a: MONDO:0100343 {source="https://github.com/monarch-initiative/mondo/issues/2935", source="https://orcid.org/0000-0001-5493-2602"} ! antenatal Bartter syndrome intersection_of: MONDO:0015231 ! Bartter syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6255 ! KCNJ1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6255 {source="MONDO:mim2gene_medgen"} ! KCNJ1 @@ -186497,7 +186486,7 @@ relationship: disease_has_feature MONDO:0002331 {source="MONDO:0009730"} ! nephr relationship: excluded_subClassOf MONDO:0005328 {source="Orphanet:87876"} ! eye disorder relationship: excluded_subClassOf MONDO:0005381 ! bone disorder relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:87876"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability -relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:87876"} ! nephropathy secondary to a storage or other metabolic disease +relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:87876"} ! obsolete nephropathy secondary to a storage or other metabolic disease relationship: has_characteristic MONDO:0021136 ! rare relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7758 {source="MONDO:mim2gene_medgen"} ! NEU1 property_value: confidence "3.3578947368421064" xsd:double @@ -188325,7 +188314,6 @@ xref: SCTID:254122007 {source="MONDO:equivalentTo"} xref: UMLS:C0345407 {source="OMIM:259730", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1849435 {source="Orphanet:2785", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0017198 {source="DC-OMIM:259730", source="DOID:0110941", source="MONDO:Redundant", source="OMIM:259730", source="Orphanet:2785", source="PMID:31633310"} ! osteopetrosis -is_a: MONDO:0017828 {source="Orphanet:2785"} ! primary renal tubular acidosis intersection_of: MONDO:0017198 ! osteopetrosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1373 ! CA2 relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance @@ -189179,7 +189167,7 @@ is_a: MONDO:0001700 {source="DC-OMIM:261100", source="NCIT:C131677"} ! megalobla is_a: MONDO:0015179 {source="Orphanet:35858"} ! intestinal disease due to vitamin absorption anomaly is_a: MONDO:0016624 ! inherited deficiency anemia is_a: MONDO:0019220 {source="Orphanet:35858"} ! inborn disorder of cobalamin metabolism and transport -relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:35858"} ! nephropathy secondary to a storage or other metabolic disease +relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:35858"} ! obsolete nephropathy secondary to a storage or other metabolic disease relationship: has_characteristic MONDO:0021152 {source="OMIMPS:261100"} ! inherited property_value: confidence "3.533333333333334" xsd:double @@ -191979,7 +191967,6 @@ xref: Orphanet:2849 {source="DOID:0060476", source="OMIM:267000", source="MONDO: xref: SCTID:722231005 {source="MONDO:equivalentTo"} xref: UMLS:C0796113 {source="NCIT:C103144", source="OMIM:267000", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:2849"} is_a: MONDO:0002254 {source="DOID:0060476", source="MONDO:Redundant", source="NCIT:C103144"} ! syndromic disease -is_a: MONDO:0017891 {source="Orphanet:2849"} ! inherited renal cancer-predisposing syndrome is_a: MONDO:0019716 {source="Orphanet:2849"} ! overgrowth syndrome relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28648 {source="MONDO:mim2gene_medgen"} ! DIS3L2 property_value: confidence "33.28571428571429" xsd:double @@ -196399,7 +196386,7 @@ xref: UMLS:C1414525 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:276700 is_a: MONDO:0004741 {source="DC-OMIM:276700", source="DOID:0050726", source="NCIT:C98641", source="OMIM:276700"} ! tyrosinemia is_a: MONDO:0005066 {source="Orphanet:882"} ! metabolic disease relationship: disease_has_feature HP:0003231 ! Hypertyrosinemia -relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:882"} ! nephropathy secondary to a storage or other metabolic disease +relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:882"} ! obsolete nephropathy secondary to a storage or other metabolic disease relationship: excluded_subClassOf MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral neuropathy relationship: has_characteristic MONDO:0021136 {source="MONDO:0015115"} ! rare relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3579 {source="MONDO:mim2gene_medgen"} ! FAH @@ -197482,7 +197469,7 @@ is_a: MONDO:0017762 {source="Orphanet:905", source="https://orcid.org/0000-0001- relationship: excluded_subClassOf MONDO:0005071 {source="MONDO:0020016-obsoleted"} ! nervous system disorder relationship: excluded_subClassOf MONDO:0005328 ! eye disorder relationship: excluded_subClassOf MONDO:0005395 {source="Orphanet:905"} ! movement disorder -relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:905"} ! nephropathy secondary to a storage or other metabolic disease +relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:905"} ! obsolete nephropathy secondary to a storage or other metabolic disease relationship: excluded_subClassOf MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral neuropathy relationship: excluded_subClassOf MONDO:0020257 {source="Orphanet:905"} ! supranuclear oculomotor palsy relationship: excluded_subClassOf MONDO:0044807 {source="MONDO:0018265-obsoleted"} ! inherited dystonia @@ -202183,7 +202170,7 @@ xref: SCTID:723454008 {source="MONDO:equivalentTo"} xref: UMLS:C1970827 {source="Orphanet:3222", source="OMIM:300661", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019236 {source="Orphanet:3222"} ! inborn disorder of purine metabolism relationship: disease_has_basis_in_disruption_of GO:0004749 ! ribose phosphate diphosphokinase activity -relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:3222"} ! nephropathy secondary to a storage or other metabolic disease +relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:3222"} ! obsolete nephropathy secondary to a storage or other metabolic disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9462 {source="MONDO:mim2gene_medgen"} ! PRPS1 property_value: confidence "1.0" xsd:double property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3680" xsd:anyURI @@ -204584,7 +204571,6 @@ xref: OMIM:300971 {source="MONDO:equivalentTo", source="DOID:0110147"} xref: Orphanet:570371 {source="MONDO:equivalentTo"} xref: UMLS:C4310820 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015231 {source="DOID:0110147", source="MONDO:Redundant", source="OMIM:300971"} ! Bartter syndrome -is_a: MONDO:0100343 {source="https://github.com/monarch-initiative/mondo/issues/2935", source="https://orcid.org/0000-0001-5493-2602"} ! antenatal Bartter syndrome intersection_of: MONDO:0015231 ! Bartter syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16353 ! MAGED2 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16353 {source="MONDO:mim2gene_medgen"} ! MAGED2 @@ -205179,7 +205165,7 @@ relationship: excluded_subClassOf MONDO:0005328 ! eye disorder relationship: excluded_subClassOf MONDO:0016340 ! familial restrictive cardiomyopathy relationship: excluded_subClassOf MONDO:0019293 {source="Orphanet:324"} ! skin vascular disease relationship: excluded_subClassOf MONDO:0019520 {source="Orphanet:324"} ! syndromic lymphedema -relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:324"} ! nephropathy secondary to a storage or other metabolic disease +relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:324"} ! obsolete nephropathy secondary to a storage or other metabolic disease relationship: excluded_subClassOf MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral neuropathy relationship: has_characteristic MONDO:0021136 {source="MONDO:0015948"} ! rare relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4296 {source="MONDO:mim2gene_medgen"} ! GLA @@ -208176,7 +208162,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010641 name: X-linked diffuse leiomyomatosis-Alport syndrome -def: "The association of X-linked Alport syndrome with leiomyomatosis of the esophagus, tracheobronchial tree or female genitals has been reported in more than 30 families." [Orphanet:1018] +def: "A rare renal disease characterized by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal, respiratory, and female genital tracts and clinically manifests with dysphagia, dyspnea, cough, stridor, postprandial vomiting, retrosternal or epigastric pain, recurrent pneumonia, and clitoral hypertrophy in females." [Orphanet:1018] subset: ordo_disease {source="Orphanet:1018"} synonym: "Alport syndrome and diffuse leiomyomatosis" RELATED [OMIM:308940] synonym: "Alport syndrome with diffuse leiomyomatosis" RELATED [GARD:0002432] @@ -208192,8 +208178,8 @@ xref: MESH:C537113 {source="MONDO:equivalentTo"} xref: OMIM:308940 {source="MONDO:equivalentTo", source="Orphanet:1018", source="Orphanet:1018/e"} xref: Orphanet:1018 {source="OMIM:308940", source="MONDO:equivalentTo"} xref: UMLS:C1839884 {source="OMIM:308940", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} +is_a: MONDO:0005240 {source="https://orcid.org/0000-0001-5208-3432"} ! kidney disorder is_a: MONDO:0017007 {source="Orphanet:1018"} ! partial deletion of the long arm of chromosome X -is_a: MONDO:0019723 {source="Orphanet:1018"} ! disease of glomerular basement membrane relationship: disease_arises_from_structure CHR:9606-chrXq22.3 {source="https://orcid.org/0000-0002-4142-7153"} ! Xq22.3 (Human) relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion property_value: confidence "1.6470588235294117" xsd:double @@ -219310,7 +219296,7 @@ is_a: MONDO:0017742 {source="Orphanet:2953"} ! disorder of O-xylosylglycan synth is_a: MONDO:0019942 {source="Orphanet:2953"} ! distal arthrogryposis is_a: MONDO:0020066 {source="DC-OMIM:601776", source="MESH:C000600608", source="OMIM:601776", source="Orphanet:2953"} ! Ehlers-Danlos syndrome relationship: excluded_subClassOf MONDO:0005093 ! skin disorder -relationship: excluded_subClassOf MONDO:0019743 {source="MONDO:0018294-obsoleted"} ! nephropathy secondary to a storage or other metabolic disease +relationship: excluded_subClassOf MONDO:0019743 {source="MONDO:0018294-obsoleted"} ! obsolete nephropathy secondary to a storage or other metabolic disease relationship: has_characteristic MONDO:0021136 ! rare relationship: has_characteristic MONDO:0021140 ! congenital property_value: confidence "1.7529411764705887" xsd:double @@ -223475,7 +223461,7 @@ xref: UMLS:C1970344 {source="OMIM:603585", source="Orphanet:238459", source="MON is_a: MONDO:0005501 {source="DC-OMIM:603585", source="OMIM:603585"} ! congenital disorder of glycosylation type II is_a: MONDO:0015286 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital disorder of glycosylation is_a: MONDO:0017749 {source="Orphanet:238459"} ! disorder of multiple glycosylation -relationship: excluded_subClassOf MONDO:0019743 {source="MONDO:0018294-obsoleted"} ! nephropathy secondary to a storage or other metabolic disease +relationship: excluded_subClassOf MONDO:0019743 {source="MONDO:0018294-obsoleted"} ! obsolete nephropathy secondary to a storage or other metabolic disease relationship: has_characteristic MONDO:0021140 ! congenital relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11021 {source="MONDO:mim2gene_medgen"} ! SLC35A1 property_value: confidence "12.055555555555557" xsd:double @@ -228522,7 +228508,6 @@ xref: OMIM:605642 {source="MONDO:equivalentTo", source="Orphanet:97290", source= xref: Orphanet:97290 {source="OMIM:605642", source="MONDO:equivalentTo"} xref: SCTID:717734005 {source="MONDO:equivalentTo"} xref: UMLS:C1854104 {source="OMIM:605642", source="MONDO:equivalentTo", source="Orphanet:97290", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0017891 {source="Orphanet:97290"} ! inherited renal cancer-predisposing syndrome is_a: MONDO:0017896 {source="Orphanet:97290"} ! familial nonmedullary thyroid carcinoma property_value: confidence "3.533333333333334" xsd:double @@ -228687,7 +228672,6 @@ xref: OMIM:605724 {source="MONDO:equivalentTo", source="Orphanet:319462", source xref: Orphanet:319462 {source="OMIM:605724", source="MONDO:equivalentTo"} xref: SCTID:766707003 {source="MONDO:equivalentTo"} xref: UMLS:C1838457 {source="NCIT:C125705", source="OMIM:605724", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} -is_a: MONDO:0017891 {source="Orphanet:319462"} ! inherited renal cancer-predisposing syndrome is_a: MONDO:0019391 {source="DC-OMIM:605724", source="DOID:0111089", source="MESH:C563980", source="NCIT:C125705", source="OMIM:605724"} ! Fanconi anemia relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1101 {source="MONDO:mim2gene_medgen"} ! BRCA2 property_value: confidence "2.692307692307692" xsd:double @@ -233213,7 +233197,7 @@ xref: MESH:C564600 {source="MONDO:equivalentTo"} xref: OMIM:607258 {source="MONDO:equivalentTo"} xref: Orphanet:2197 {source="OMIM:607258"} xref: UMLS:C1846573 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:607258"} -is_a: MONDO:0016352 {source="Orphanet:2197/btnt"} ! idiopathic inherited hypercalciuria +is_a: MONDO:0002118 {source="https://orcid.org/0000-0001-5208-3432"} ! urinary system disorder property_value: confidence "29.33333333333344" xsd:double property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -237046,7 +237030,7 @@ is_a: MONDO:0005066 ! metabolic disease is_a: MONDO:0005500 {source="DC-OMIM:608104"} ! congenital disorder of glycosylation type I is_a: MONDO:0015286 {source="MESH:C535746", source="MONDO:0011969/inferred", source="MONDO:Redundant", source="OMIM:608104", source="Orphanet:79325/inferred"} ! congenital disorder of glycosylation is_a: MONDO:0017740 {source="Orphanet:79325"} ! disorder of protein N-glycosylation -relationship: excluded_subClassOf MONDO:0019743 {source="MONDO:0018294-obsoleted"} ! nephropathy secondary to a storage or other metabolic disease +relationship: excluded_subClassOf MONDO:0019743 {source="MONDO:0018294-obsoleted"} ! obsolete nephropathy secondary to a storage or other metabolic disease relationship: has_characteristic MONDO:0021136 ! rare relationship: has_characteristic MONDO:0021140 ! congenital relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23161 {source="MONDO:mim2gene_medgen"} ! ALG8 @@ -239826,7 +239810,7 @@ is_a: MONDO:0015492 {source="MESH:D014890", source="Orphanet:900"} ! anti-neutro is_a: MONDO:0800113 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! necrotizing vasculitis relationship: disease_has_feature HP:0002633 ! Vasculitis relationship: disease_has_feature HP:0002960 ! Autoimmunity -relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:900"} ! secondary glomerular disease +relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:900"} ! obsolete secondary glomerular disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0020008"} ! rare property_value: confidence "3.2857142857142856" xsd:double property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI @@ -241552,17 +241536,17 @@ replaced_by: MONDO:0018274 [Term] id: MONDO:0012190 -name: nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome +name: epidermolysis bullosa simplex 7, with nephropathy and deafness subset: ordo_disease {source="Orphanet:300333"} synonym: "epidermolysis bullosa simplex 7, with nephropathy and deafness" EXACT [OMIM:609057, OMIM:genemap2] synonym: "nephropathy with pretibial epidermolysis bullosa and deafness" RELATED [OMIM:609057] +synonym: "nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome" EXACT [Orphanet:300333] synonym: "nephrotic syndrome-hearing loss-pretibial epidermolysis bullosa syndrome" EXACT [Orphanet:300333] xref: MESH:C563798 {source="MONDO:equivalentTo"} xref: OMIM:609057 {source="Orphanet:300333", source="MONDO:equivalentTo", source="Orphanet:300333/e"} xref: Orphanet:300333 {source="MONDO:equivalentTo", source="OMIM:609057"} xref: UMLS:C1836823 {source="Orphanet:300333", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:609057"} is_a: MONDO:0017610 {source="OMIM:609057"} ! epidermolysis bullosa simplex -is_a: MONDO:0019723 {source="Orphanet:300333"} ! disease of glomerular basement membrane relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1630 {source="MONDO:mim2gene_medgen"} ! CD151 property_value: confidence "3.533333333333334" xsd:double property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -252609,10 +252593,10 @@ property_value: confidence "4.277777777777778" xsd:double [Term] id: MONDO:0012726 name: autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome -def: "Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome is characterized by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal hemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures." [Orphanet:73229] +def: "A syndrome characterized by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal hemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures." [Orphanet:73229] subset: ordo_disease {source="Orphanet:73229"} -synonym: "angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps" RELATED [MONDO:Lexical, OMIM:611773] -synonym: "HANAC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611773] +synonym: "angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps" EXACT [MONDO:Lexical, OMIM:611773] +synonym: "HANAC" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611773] synonym: "HANAC syndrome" EXACT [Orphanet:73229] synonym: "hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome" RELATED [GARD:0010889] synonym: "hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome" EXACT [Orphanet:73229] @@ -252623,8 +252607,8 @@ xref: OMIM:611773 {source="MONDO:equivalentTo", source="Orphanet:73229", source= xref: Orphanet:73229 {source="OMIM:611773", source="MONDO:equivalentTo"} xref: SCTID:702428000 {source="MONDO:equivalentTo"} xref: UMLS:C2673195 {source="OMIM:611773", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:73229"} +is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0018788 ! COL4A1 or COL4A2-related cerebral small vessel disease -is_a: MONDO:0019723 {source="Orphanet:73229"} ! disease of glomerular basement membrane relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2202 {source="MONDO:mim2gene_medgen"} ! COL4A1 property_value: confidence "3.666666666666667" xsd:double @@ -253843,7 +253827,7 @@ xref: Orphanet:247794 {source="MONDO:equivalentTo", source="OMIM:612018"} xref: SCTID:722457005 {source="MONDO:equivalentTo"} xref: UMLS:C2677587 {source="MONDO:equivalentTo", source="OMIM:612018", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0017706 {source="Orphanet:247794"} ! disorder of carbohydrate transmembrane transport and absorption -relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:247794"} ! nephropathy secondary to a storage or other metabolic disease +relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:247794"} ! obsolete nephropathy secondary to a storage or other metabolic disease relationship: has_characteristic HP:0000006 {source="https://orcid.org/0000-0002-4142-7153"} ! Autosomal dominant inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23094 {source="MONDO:mim2gene_medgen"} ! SLC16A12 property_value: confidence "2.692307692307692" xsd:double @@ -255245,7 +255229,6 @@ xref: Orphanet:244305 {source="OMIM:612286"} xref: UMLS:C2676786 {source="OMIM:612286", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000079 {source="DC-OMIM:612286", source="MONDO:Redundant", source="OMIM:612286"} ! nephrolithiasis/osteoporosis, hypophosphatemic is_a: MONDO:0001343 {source="DOID:0080077"} ! impaired renal function disease -is_a: MONDO:0016579 {source="Orphanet:244305/btnt"} ! dominant hypophosphatemia with nephrolithiasis or osteoporosis intersection_of: MONDO:0000079 ! nephrolithiasis/osteoporosis, hypophosphatemic intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11019 ! SLC34A1 relationship: disease_has_feature HP:0002905 {source="MONDO:Wikidata"} ! Hyperphosphatemia @@ -255267,7 +255250,6 @@ xref: Orphanet:244305 {source="OMIM:612287"} xref: UMLS:C2676782 {source="OMIM:612287", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000079 {source="DC-OMIM:612287", source="MONDO:Redundant", source="OMIM:612287"} ! nephrolithiasis/osteoporosis, hypophosphatemic is_a: MONDO:0001343 {source="DOID:0080078"} ! impaired renal function disease -is_a: MONDO:0016579 {source="Orphanet:244305/btnt"} ! dominant hypophosphatemia with nephrolithiasis or osteoporosis intersection_of: MONDO:0000079 ! nephrolithiasis/osteoporosis, hypophosphatemic intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11075 ! SLC9A3R1 relationship: disease_has_feature HP:0002905 {source="MONDO:Wikidata"} ! Hyperphosphatemia @@ -264401,7 +264383,7 @@ xref: SCTID:715401008 {source="MONDO:equivalentTo"} xref: UMLS:C0748397 {source="Orphanet:779", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613471"} is_a: MONDO:0007179 {source="https://orcid.org/0000-0001-5208-3432"} ! autoimmune disease relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql -relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:779"} ! secondary glomerular disease +relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:779"} ! obsolete secondary glomerular disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6518 {source="MONDO:mim2gene_medgen"} ! LBR property_value: confidence "4.277777777777778" xsd:double property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4697/reynolds-syndrome" xsd:anyURI {source="GARD:0004697"} @@ -264571,7 +264553,7 @@ is_a: MONDO:0002273 {source="DOID:13372"} ! plasma protein metabolism disease is_a: MONDO:0005066 {source="Orphanet:60"} ! metabolic disease is_a: MONDO:0005087 {source="MONDO:Redundant", source="Orphanet:60"} ! respiratory system disorder is_a: MONDO:0019052 {source="MONDO:0019602-obsoleted"} ! inborn errors of metabolism -relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:60"} ! nephropathy secondary to a storage or other metabolic disease +relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:60"} ! obsolete nephropathy secondary to a storage or other metabolic disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015115", source="MONDO:0015510"} ! rare relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8941 {source="MONDO:mim2gene_medgen"} ! SERPINA1 property_value: confidence "4.277777777777778" xsd:double @@ -276673,7 +276655,7 @@ xref: UMLS:C0268120 {source="Orphanet:976", source="MONDO:equivalentTo", source= xref: UMLS:C3665382 {source="Orphanet:976", source="MONDO:notFoundInDiseaseSubset", source="OMIM:614723", source="DOID:0060350"} is_a: MONDO:0004736 {source="DOID:0060350"} ! inborn disorder of amino acid metabolism is_a: MONDO:0019236 {source="Orphanet:976"} ! inborn disorder of purine metabolism -relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:976"} ! nephropathy secondary to a storage or other metabolic disease +relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:976"} ! obsolete nephropathy secondary to a storage or other metabolic disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/626 {source="MONDO:mim2gene_medgen"} ! APRT property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10666/dihydroxyadeninuria" xsd:anyURI {source="GARD:0010666"} @@ -276963,7 +276945,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar is_a: MONDO:0017612 {source="OMIM:614748", source="Orphanet:306504"} ! junctional epidermolysis bullosa relationship: excluded_subClassOf MONDO:0005087 {source="MONDO:Redundant", source="Orphanet:306504", source="Orphanet:306504/inferred"} ! respiratory system disorder relationship: excluded_subClassOf MONDO:0017015 {source="Orphanet:306504"} ! primary interstitial lung disease specific to childhood -relationship: excluded_subClassOf MONDO:0019723 {source="Orphanet:306504"} ! disease of glomerular basement membrane +relationship: excluded_subClassOf MONDO:0019723 {source="Orphanet:306504"} ! obsolete disease of glomerular basement membrane relationship: has_characteristic MONDO:0021136 {source="MONDO:0015510"} ! 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/6139 {source="MONDO:mim2gene_medgen"} ! ITGA3 @@ -292640,7 +292622,7 @@ xref: UMLS:C0231330 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoun xref: UMLS:C4225334 {source="MONDO:equivalentTo"} is_a: MONDO:0005087 {source="MONDO:Redundant", source="Orphanet:444092", source="Orphanet:444092/inferred"} ! respiratory system disorder relationship: excluded_subClassOf MONDO:0017020 {source="Orphanet:444092"} ! obsolete secondary interstitial lung disease specific to childhood associated with a systemic disease -relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:444092"} ! secondary glomerular disease +relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:444092"} ! obsolete secondary glomerular disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015510"} ! rare relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2230 {source="MONDO:mim2gene_medgen"} ! COPA property_value: confidence "2.6923076923076925" xsd:double @@ -304292,7 +304274,6 @@ xref: SCTID:236443009 {source="MONDO:equivalentTo"} xref: UMLS:C0022681 {source="Orphanet:1309/e", source="MONDO:equivalentTo", source="NCIT:C34751", source="Orphanet:1309"} is_a: MONDO:0002473 {source="MESH:D007691", source="NCIT:C34751"} ! cystic kidney disease is_a: MONDO:0005240 {source="MONDO:Redundant", source="Orphanet:1309", source="Orphanet:1309/inferred"} ! kidney disorder -is_a: MONDO:0019720 {source="Orphanet:1309"} ! non-syndromic renal or urinary tract malformation is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:1309", source="Orphanet:1309/inferred"} ! disorder of development or morphogenesis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960", source="MONDO:0020030"} ! rare property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/232/medullary-sponge-kidney" xsd:anyURI {source="GARD:0000232"} @@ -313306,7 +313287,7 @@ xref: Orphanet:18 {source="MONDO:equivalentTo"} xref: SCTID:236461000 {source="MONDO:equivalentTo"} xref: UMLS:C0259810 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:18", source="Orphanet:18/e"} xref: UMLS:C1704380 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:18"} -is_a: MONDO:0017828 {source="Orphanet:18"} ! primary renal tubular acidosis +is_a: MONDO:0005240 {source="https://orcid.org/0000-0001-5208-3432"} ! kidney disorder relationship: has_characteristic MONDO:0021152 {source="OMIMPS:179800"} ! inherited property_value: IAO:0000589 "distal renal tubular acidosis (disease)" xsd:string @@ -315101,7 +315082,7 @@ relationship: disease_has_feature HP:0002099 ! Asthma relationship: disease_has_feature HP:0002239 ! Gastrointestinal hemorrhage relationship: excluded_subClassOf MONDO:0016177 {source="Orphanet:183"} ! obsolete systemic inflammatory disease associated with an acquired peripheral neuropathy relationship: excluded_subClassOf MONDO:0017952 {source="Orphanet:183"} ! obsolete non-familial rare disease with dilated cardiomyopathy -relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:183"} ! secondary glomerular disease +relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:183"} ! obsolete secondary glomerular disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5625" xsd:anyURI @@ -315750,7 +315731,6 @@ xref: UMLS:C0345335 {source="Orphanet:1851", source="MONDO:notFoundInDiseaseSubs xref: UMLS:C3714581 {source="Orphanet:1851", source="NCIT:C123031", source="MONDO:equivalentTo"} is_a: MONDO:0002473 {source="MESH:D021782", source="NCIT:C123031"} ! cystic kidney disease is_a: MONDO:0005240 {source="MONDO:Redundant", source="Orphanet:1851", source="Orphanet:1851/inferred"} ! kidney disorder -is_a: MONDO:0019720 {source="Orphanet:1851"} ! non-syndromic renal or urinary tract malformation is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:1851", source="Orphanet:1851/inferred"} ! disorder of development or morphogenesis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960", source="MONDO:0020030"} ! rare @@ -317595,7 +317575,7 @@ xref: Orphanet:206428 {source="MONDO:equivalentTo"} xref: SCTID:124275001 {source="MONDO:equivalentTo"} xref: UMLS:C0023374 {source="Orphanet:206428"} is_a: MONDO:0019236 {source="Orphanet:206428"} ! inborn disorder of purine metabolism -relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:206428"} ! nephropathy secondary to a storage or other metabolic disease +relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:206428"} ! obsolete nephropathy secondary to a storage or other metabolic disease relationship: excluded_subClassOf MONDO:0020112 {source="Orphanet:206428"} ! vitamin B12- and folate-independent constitutional megaloblastic anemia [Term] @@ -321658,20 +321638,15 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/730/anti-hla [Term] id: MONDO:0016352 -name: idiopathic inherited hypercalciuria -comment: Reason of obsoletion: out of scope - MONDO:excludeGrouping. This is part of a large mass-obsoletione effort for ORDO terms. -subset: obsoletion_candidate -subset: ordo_disease {source="Orphanet:2197"} +name: obsolete idiopathic inherited hypercalciuria synonym: "idiopathic hypercalciuria" RELATED [Orphanet:2197] xref: ICD10CM:E83.5 {source="Orphanet:2197/ntbt", source="Orphanet:2197/inclusion", source="Orphanet:2197"} -xref: Orphanet:2197 {source="MONDO:equivalentTo"} +xref: Orphanet:2197 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0543800 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2197"} -is_a: MONDO:0005240 {source="MONDO:0019744-obsoleted"} ! kidney disorder -is_a: MONDO:0015962 {source="Orphanet:2197"} ! inherited renal tubular disease -relationship: disease_has_major_feature HP:0002150 ! Hypercalciuria -relationship: has_characteristic MONDO:0700005 ! idiopathic +property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI -property_value: IAO:0006012 "2023-10-01" xsd:string +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6696" xsd:anyURI +is_obsolete: true [Term] id: MONDO:0016353 @@ -321972,7 +321947,7 @@ intersection_of: disease_has_inflammation_site UBERON:0002385 ! muscle tissue relationship: disease_has_location UBERON:0001015 {source="EFO:0000784"} ! musculature relationship: excluded_subClassOf MONDO:0003900 {source="MESH:D003882"} ! connective tissue disorder relationship: excluded_subClassOf MONDO:0017368 {source="Orphanet:221"} ! obsolete systemic disease with skin involvement -relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:221"} ! secondary glomerular disease +relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:221"} ! obsolete secondary glomerular disease [Term] id: MONDO:0016368 @@ -322543,7 +322518,7 @@ xref: NCIT:C123202 {source="MONDO:equivalentTo"} xref: Orphanet:2260 {source="MONDO:equivalentTo", source="DOID:0111142"} xref: SCTID:18417009 {source="MONDO:equivalentTo"} xref: UMLS:C0431694 {source="MONDO:equivalentTo", source="NCIT:C123202"} -is_a: MONDO:0019720 {source="Orphanet:2260"} ! non-syndromic renal or urinary tract malformation +is_a: MONDO:0005240 {source="https://orcid.org/0000-0001-5208-3432"} ! kidney disorder [Term] id: MONDO:0016408 @@ -324485,7 +324460,6 @@ xref: Orphanet:237 {source="MONDO:equivalentTo"} xref: SCTID:69015003 {source="MONDO:equivalentTo"} xref: UMLS:C0266348 {source="Orphanet:237", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:237/e"} is_a: MONDO:0005240 {source="MONDO:Redundant", source="Orphanet:237", source="Orphanet:237/inferred"} ! kidney disorder -is_a: MONDO:0019720 {source="Orphanet:237"} ! non-syndromic renal or urinary tract malformation is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:237", source="Orphanet:237/inferred"} ! disorder of development or morphogenesis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960", source="MONDO:0020030"} ! rare property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1975/duplication-of-urethra" xsd:anyURI {source="GARD:0001975"} @@ -324795,7 +324769,7 @@ xref: ICD10CM:Q62.7 {source="Orphanet:238637/ntbt", source="Orphanet:238637"} xref: Orphanet:238637 {source="MONDO:equivalentTo"} xref: SCTID:253904001 {source="MONDO:equivalentTo"} xref: UMLS:C0431752 {source="Orphanet:238637", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:238637/e"} -is_a: MONDO:0019720 {source="Orphanet:238637"} ! non-syndromic renal or urinary tract malformation +is_a: MONDO:0002118 {source="https://orcid.org/0000-0001-5208-3432"} ! urinary system disorder [Term] id: MONDO:0016549 @@ -325271,18 +325245,14 @@ consider: MONDO:0016387 [Term] id: MONDO:0016579 -name: dominant hypophosphatemia with nephrolithiasis or osteoporosis -comment: Reason of obsoletion: out of scope - MONDO:excludeGrouping. This is part of a large mass-obsoletione effort for ORDO terms. -subset: obsoletion_candidate -subset: ordo_disease {source="Orphanet:244305"} -xref: Orphanet:244305 {source="MONDO:equivalentTo"} -xref: UMLS:CN228623 {source="MONDO:equivalentTo"} -is_a: MONDO:0005240 {source="MONDO:0019744-obsoleted"} ! kidney disorder -is_a: MONDO:0015962 {source="Orphanet:244305"} ! inherited renal tubular disease -relationship: disease_has_feature HP:0004348 {source="Orphanet:244305"} ! Abnormality of bone mineral density +name: obsolete dominant hypophosphatemia with nephrolithiasis or osteoporosis +xref: Orphanet:244305 {source="MONDO:obsoleteEquivalent"} +xref: UMLS:CN228623 {source="MONDO:obsoleteEquivalent"} relationship: excluded_subClassOf MONDO:0019705 {source="Orphanet:244305"} ! obsolete primary bone dysplasia with defective bone mineralization +property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI -property_value: IAO:0006012 "2023-10-01" xsd:string +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6696" xsd:anyURI +is_obsolete: true [Term] id: MONDO:0016580 @@ -335627,7 +335597,7 @@ is_a: MONDO:0019215 ! classic organic aciduria is_a: MONDO:0019220 {source="Orphanet:28"} ! inborn disorder of cobalamin metabolism and transport intersection_of: MONDO:0002012 ! methylmalonic acidemia intersection_of: disease_responds_to CHEBI:30411 ! cobalamin -relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:28"} ! nephropathy secondary to a storage or other metabolic disease +relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:28"} ! obsolete nephropathy secondary to a storage or other metabolic disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12623/vitamin-b12-responsive-methylmalonic-acidemia" xsd:anyURI {source="GARD:0012623"} [Term] @@ -341359,7 +341329,7 @@ xref: ICD10CM:Q63.8 {source="Orphanet:3033/ntbt", source="Orphanet:3033"} xref: Orphanet:3033 {source="MONDO:equivalentTo"} xref: SCTID:702397002 {source="MONDO:equivalentTo"} xref: UMLS:C0266313 {source="Orphanet:3033/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:3033"} -is_a: MONDO:0019720 {source="Orphanet:3033"} ! non-syndromic renal or urinary tract malformation +is_a: MONDO:0005240 {source="https://orcid.org/0000-0001-5208-3432"} ! kidney disorder [Term] id: MONDO:0017610 @@ -344605,17 +344575,13 @@ is_a: MONDO:0021089 {source="MONDO:Redundant", source="NCIT:C3798"} ! peripheral [Term] id: MONDO:0017828 -name: primary renal tubular acidosis -comment: Reason of obsoletion: out of scope - MONDO:excludeGrouping. This is part of a large mass-obsoletion effort for ORDO terms. -subset: disease_grouping -subset: obsoletion_candidate -subset: ordo_group_of_disorders {source="Orphanet:314822"} +name: obsolete primary renal tubular acidosis xref: ICD10CM:N25.8 {source="Orphanet:314822/attributed", source="Orphanet:314822/ntbt", source="Orphanet:314822"} -xref: Orphanet:314822 {source="MONDO:equivalentTo"} -is_a: MONDO:0005240 {source="MONDO:0019744-obsoleted"} ! kidney disorder -is_a: MONDO:0015962 {source="Orphanet:314822"} ! inherited renal tubular disease +xref: Orphanet:314822 {source="MONDO:obsoleteEquivalent"} +property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI -property_value: IAO:0006012 "2023-10-01" xsd:string +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6696" xsd:anyURI +is_obsolete: true [Term] id: MONDO:0017829 @@ -345633,7 +345599,7 @@ is_a: MONDO:0002512 {source="NCIT:C6975"} ! papillary adenocarcinoma is_a: MONDO:0005086 {source="DC-OMIM:605074", source="DOID:4465", source="EFO:0000640", source="MONDO:0017884/inferred", source="MONDO:Redundant", source="ONCOTREE:PRCC/inferred", source="Orphanet:319298"} ! renal cell carcinoma is_a: MONDO:0005549 {source="MONDO:Redundant", source="NCIT:C6975"} ! renal cell adenocarcinoma relationship: disease_has_location UBERON:0002113 {source="EFO:0000784"} ! kidney -relationship: excluded_subClassOf MONDO:0017891 {source="Orphanet:47044"} ! inherited renal cancer-predisposing syndrome +relationship: excluded_subClassOf MONDO:0017891 {source="Orphanet:47044"} ! obsolete inherited renal cancer-predisposing syndrome property_value: confidence "2.0" xsd:double property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9572/papillary-renal-cell-carcinoma" xsd:anyURI {source="GARD:0009572"} @@ -345727,18 +345693,13 @@ is_a: MONDO:0005549 {source="NCIT:C126303"} ! renal cell adenocarcinoma [Term] id: MONDO:0017891 -name: inherited renal cancer-predisposing syndrome -comment: Reason of obsoletion: out of scope - MONDO:excludeGrouping. This is part of a large mass-obsoletione effort for ORDO terms. -subset: disease_grouping -subset: obsoletion_candidate -subset: ordo_group_of_disorders {source="Orphanet:319328"} -xref: Orphanet:319328 {source="MONDO:equivalentTo"} -xref: UMLS:CN203941 {source="MONDO:equivalentTo"} -is_a: MONDO:0005240 {source="MONDO:Redundant", source="Orphanet:319328"} ! kidney disorder -is_a: MONDO:0015356 {source="Orphanet:319328"} ! hereditary neoplastic syndrome -relationship: has_characteristic MONDO:0021136 {source="MONDO:0019750"} ! rare +name: obsolete inherited renal cancer-predisposing syndrome +xref: Orphanet:319328 {source="MONDO:obsoleteEquivalent"} +xref: UMLS:CN203941 {source="MONDO:obsoleteEquivalent"} +property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI -property_value: IAO:0006012 "2023-10-01" xsd:string +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6696" xsd:anyURI +is_obsolete: true [Term] id: MONDO:0017892 @@ -346205,7 +346166,7 @@ is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:322", source="Or relationship: excluded_subClassOf MONDO:0015215 {source="Orphanet:322"} ! obsolete non-syndromic diaphragmatic or abdominal wall malformation relationship: excluded_subClassOf MONDO:0015934 {source="Orphanet:322"} ! obsolete non-syndromic urogenital tract malformation of male and female relationship: excluded_subClassOf MONDO:0019719 {source="MONDO:cjm", source="Orphanet:322/inferred"} ! congenital anomaly of kidney and urinary tract -relationship: excluded_subClassOf MONDO:0019720 {source="Orphanet:322"} ! non-syndromic renal or urinary tract malformation +relationship: excluded_subClassOf MONDO:0019720 {source="Orphanet:322"} ! obsolete non-syndromic renal or urinary tract malformation relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960", source="MONDO:0020030"} ! rare property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3650" xsd:anyURI @@ -346290,7 +346251,7 @@ subset: ordo_disease {source="Orphanet:3240"} synonym: "Yoshimura-Takeshita syndrome" EXACT [Orphanet:3240] xref: Orphanet:3240 {source="MONDO:equivalentTo"} xref: UMLS:CN204056 {source="MONDO:equivalentTo"} -is_a: MONDO:0017828 {source="Orphanet:3240"} ! primary renal tubular acidosis +is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:3240"} ! syndromic intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -346395,8 +346356,7 @@ synonym: "hypertrophic cardiomyopathy and renal tubular disease due to mtDNA mut xref: ICD10CM:I42.2 {source="Orphanet:324525/attributed", source="Orphanet:324525/ntbt", source="Orphanet:324525"} xref: Orphanet:324525 {source="MONDO:equivalentTo"} xref: UMLS:CN204073 {source="MONDO:equivalentTo"} -is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder -is_a: MONDO:0017828 {source="Orphanet:324525"} ! primary renal tubular acidosis +is_a: MONDO:0016387 {source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial oxidative phosphorylation disorder relationship: has_characteristic SO:1000008 ! point_mutation [Term] @@ -347275,7 +347235,7 @@ is_a: MONDO:0015236 {source="Orphanet:99079"} ! aortic arch defects is_a: MONDO:0015488 {source="Orphanet:3287"} ! predominantly large-vessel vasculitis is_a: MONDO:0043494 {source="EFO:1001857", source="MESH:D013625", source="NCIT:C35062"} ! arteritis relationship: disease_has_location UBERON:0004363 ! pharyngeal arch artery -relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:3287"} ! secondary glomerular disease +relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:3287"} ! obsolete secondary glomerular disease property_value: confidence "0.0" xsd:double property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5166" xsd:anyURI @@ -348956,7 +348916,7 @@ is_a: MONDO:0015135 ! primary immunodeficiency due to a genetic defect in innate is_a: MONDO:0017953 {source="MESH:D010505", source="Orphanet:342"} ! hereditary periodic fever syndrome is_a: MONDO:0019751 {source="Orphanet:342/inferred", source="PMID:23827249"} ! autoinflammatory syndrome relationship: excluded_subClassOf MONDO:0007179 {source="DOID:2987"} ! autoimmune disease -relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:342"} ! secondary glomerular disease +relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:342"} ! obsolete secondary glomerular disease [Term] id: MONDO:0018089 @@ -349378,7 +349338,7 @@ is_a: MONDO:0000721 {source="MONDO:Redundant", source="MONDO:cjm"} ! xanthinuria is_a: MONDO:0019236 {source="Orphanet:3467"} ! inborn disorder of purine metabolism intersection_of: MONDO:0000721 ! xanthinuria intersection_of: has_characteristic MONDO:0021152 ! inherited -relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:3467"} ! nephropathy secondary to a storage or other metabolic disease +relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:3467"} ! obsolete nephropathy secondary to a storage or other metabolic disease relationship: has_characteristic MONDO:0021152 {source="OMIMPS:278300"} ! inherited property_value: confidence "19.999999999999982" xsd:double @@ -349539,7 +349499,7 @@ is_a: MONDO:0017690 {source="Orphanet:352"} ! disorder of galactose metabolism is_a: MONDO:0019052 {source="DOID:9870/inferred", source="MESH:D005693/inferred", source="MONDO:Redundant", source="NCIT:C84723", source="Orphanet:352/inferred"} ! inborn errors of metabolism is_a: MONDO:0019214 {source="DOID:9870", source="MESH:D005693", source="NCIT:C84723", source="Orphanet:352/inferred"} ! inborn carbohydrate metabolic disorder relationship: disease_has_feature MONDO:0005066 ! metabolic disease -relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:352"} ! nephropathy secondary to a storage or other metabolic disease +relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:352"} ! obsolete nephropathy secondary to a storage or other metabolic disease relationship: has_characteristic MONDO:0021136 ! rare relationship: has_characteristic MONDO:0021152 {source="OMIMPS:230400"} ! inherited @@ -351386,7 +351346,7 @@ xref: SCTID:239945009 {source="MONDO:equivalentTo"} xref: UMLS:C0343206 {source="GARD:0006725", source="MONDO:equivalentTo"} xref: UMLS:CN204757 {source="MONDO:equivalentTo"} is_a: MONDO:0015491 {source="Orphanet:36412"} ! immune complex mediated vasculitis -relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:36412"} ! secondary glomerular disease +relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:36412"} ! obsolete secondary glomerular disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6725/hypocomplementemic-urticarial-vasculitis" xsd:anyURI {source="GARD:0006725"} [Term] @@ -354731,7 +354691,6 @@ xref: Orphanet:404476 {source="MONDO:equivalentTo", source="OMIM:618272"} xref: UMLS:C4748924 {source="OMIM:618272"} xref: UMLS:CN226190 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="OMIM:618272"} ! hereditary disease -is_a: MONDO:0017891 {source="Orphanet:404476"} ! inherited renal cancer-predisposing syndrome is_a: MONDO:0019716 {source="Orphanet:404476"} ! overgrowth syndrome property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4224" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -355076,7 +355035,7 @@ is_a: MONDO:0019216 {source="PMID:33340416"} ! inborn disorder of amino acid tra is_a: MONDO:0100151 {source="NCIT:C129932", source="Orphanet:213/btnt"} ! nephropathic cystinosis intersection_of: MONDO:0100151 ! nephropathic cystinosis intersection_of: has_characteristic HP:0003593 ! Infantile onset -relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:411629"} ! nephropathy secondary to a storage or other metabolic disease +relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:411629"} ! obsolete nephropathy secondary to a storage or other metabolic disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2518 {source="MONDO:mim2gene_medgen"} ! CTNS property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI @@ -355137,7 +355096,6 @@ xref: UMLS:C0542519 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:41 xref: UMLS:C1609433 {source="OMIM:191830", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:411709"} xref: UMLS:C1857453 {source="https://github.com/monarch-initiative/mondo/issues/2283"} is_a: MONDO:0005240 {source="DOID:14766", source="MONDO:Redundant", source="Orphanet:411709", source="Orphanet:411709/inferred"} ! kidney disorder -is_a: MONDO:0019720 {source="Orphanet:411709"} ! non-syndromic renal or urinary tract malformation is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:411709", source="Orphanet:411709/inferred"} ! disorder of development or morphogenesis relationship: disease_causes_feature MONDO:0001558 {source="GARD:0004462", source="Wikipedia:Potter_sequence"} ! Potter sequence relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960", source="MONDO:0020030"} ! rare @@ -355537,7 +355495,6 @@ xref: UMLS:C1333985 {source="DOID:7192", source="MONDO:notFoundInDiseaseSubset", xref: UMLS:CN237493 {source="MONDO:equivalentTo"} is_a: MONDO:0003008 {source="DOID:7192", source="MONDO:Redundant", source="NCIT:C36260"} ! hereditary renal cell carcinoma is_a: MONDO:0005005 {source="MONDO:Redundant", source="NCIT:C36260"} ! clear cell renal carcinoma -is_a: MONDO:0017891 {source="Orphanet:422526"} ! inherited renal cancer-predisposing syndrome intersection_of: MONDO:0005005 ! clear cell renal carcinoma intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: confidence "3.1086244689504383E-15" xsd:double @@ -356702,7 +356659,7 @@ is_a: MONDO:0019356 {source="Orphanet:435365/inferred", source="https://github.c is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:435365", source="Orphanet:435365/inferred"} ! disorder of development or morphogenesis relationship: excluded_subClassOf MONDO:0015934 {source="Orphanet:435365", source="https://github.com/monarch-initiative/mondo-build/issues/58"} ! obsolete non-syndromic urogenital tract malformation of male and female relationship: excluded_subClassOf MONDO:0019719 {source="Orphanet:435365/inferred", source="https://github.com/monarch-initiative/mondo-build/issues/58"} ! congenital anomaly of kidney and urinary tract -relationship: excluded_subClassOf MONDO:0019720 {source="Orphanet:435365", source="https://github.com/monarch-initiative/mondo-build/issues/58"} ! non-syndromic renal or urinary tract malformation +relationship: excluded_subClassOf MONDO:0019720 {source="Orphanet:435365", source="https://github.com/monarch-initiative/mondo-build/issues/58"} ! obsolete non-syndromic renal or urinary tract malformation relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960", source="MONDO:0020030"} ! rare [Term] @@ -356782,7 +356739,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:435743"} xref: Orphanet:435743 {source="MONDO:equivalentTo"} xref: UMLS:C1739100 {source="Orphanet:435743", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0019720 {source="Orphanet:435743"} ! non-syndromic renal or urinary tract malformation +is_a: MONDO:0002118 {source="https://orcid.org/0000-0001-5208-3432"} ! urinary system disorder [Term] id: MONDO:0018566 @@ -357105,7 +357062,7 @@ xref: DOID:0080927 {source="MONDO:equivalentTo"} xref: ICD10CM:E85.8 {source="Orphanet:439232", source="Orphanet:439232/ntbt"} xref: Orphanet:439232 {source="MONDO:equivalentTo"} is_a: MONDO:0019065 {source="Orphanet:439232"} ! amyloidosis -relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:439232"} ! secondary glomerular disease +relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:439232"} ! obsolete secondary glomerular disease [Term] id: MONDO:0018590 @@ -357470,7 +357427,7 @@ xref: ICD10CM:E85.9 {source="Orphanet:442582/ntbt", source="Orphanet:442582"} xref: NCIT:C158962 {source="MONDO:equivalentTo"} xref: Orphanet:442582 {source="MONDO:equivalentTo"} is_a: MONDO:0019065 {source="Orphanet:442582"} ! amyloidosis -relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:442582"} ! secondary glomerular disease +relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:442582"} ! obsolete secondary glomerular disease [Term] id: MONDO:0018614 @@ -358370,7 +358327,7 @@ xref: Orphanet:449395 {source="MONDO:equivalentTo"} xref: UMLS:CN237737 {source="MONDO:equivalentTo"} is_a: MONDO:0005240 {source="MONDO:0019744-obsoleted"} ! kidney disorder is_a: MONDO:0017287 {source="Orphanet:449395"} ! IgG4-related disease -relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:449395"} ! secondary glomerular disease +relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:449395"} ! obsolete secondary glomerular disease [Term] id: MONDO:0018672 @@ -363635,7 +363592,6 @@ xref: ICD10CM:Q62.2 {source="Orphanet:617/specific", source="Orphanet:617", sour xref: Orphanet:617 {source="MONDO:equivalentTo"} xref: SCTID:717459000 {source="MONDO:equivalentTo"} is_a: MONDO:0005240 {source="MONDO:Redundant", source="Orphanet:617", source="Orphanet:617/inferred"} ! kidney disorder -is_a: MONDO:0019720 {source="Orphanet:617"} ! non-syndromic renal or urinary tract malformation is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:617", source="Orphanet:617/inferred"} ! disorder of development or morphogenesis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960", source="MONDO:0020030"} ! rare property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1492/congenital-megalo-ureter" xsd:anyURI {source="GARD:0001492"} @@ -363724,7 +363680,7 @@ relationship: has_characteristic HP:0000007 {source="Orphanet:622"} ! Autosomal [Term] id: MONDO:0018965 name: Alport syndrome -def: "A genetic syndrome usually inherited as an X-link trait. It is caused by abnormalities in the COL4A5 gene. It affects males more often than females and is characterized by hematuria, progressive renal insufficiency, hearing loss, and ocular abnormalities." [NCIT:C34842] +def: "A rare renal disease characterized by glomerular nephropathy with hematuria progressing to end-stage renal disease (ESRD), frequently associated with sensorineural deafness, and occasionally with ocular anomalies." [Orphanet:63] subset: ordo_disease {source="Orphanet:63"} synonym: "Alport deafness-nephropathy" EXACT [Orphanet:63] synonym: "Alport syndrome" EXACT CLINGEN_PREFERRED [] @@ -363743,9 +363699,8 @@ xref: SCTID:57333009 {source="DOID:10983"} xref: UMLS:C0027706 {source="DOID:10983", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1567741 {source="Orphanet:63/e", source="MONDO:equivalentTo", source="NCIT:C34842", source="Orphanet:63"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C34842"} ! syndromic disease -is_a: MONDO:0005240 ! kidney disorder +is_a: MONDO:0005240 {source="https://orcid.org/0000-0001-5208-3432"} ! kidney disorder is_a: MONDO:0005334 {source="https://orcid.org/0000-0003-4546-6667"} ! hereditary nephritis -is_a: MONDO:0019723 {source="Orphanet:63"} ! disease of glomerular basement membrane relationship: excluded_subClassOf MONDO:0020237 {source="Orphanet:63"} ! lens shape anomaly relationship: has_characteristic MONDO:0021152 {source="OMIMPS:301050"} ! inherited property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3367" xsd:anyURI @@ -364384,7 +364339,7 @@ xref: SCTID:49227001 {source="MONDO:equivalentTo"} xref: UMLS:C0023195 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:650"} is_a: MONDO:0017773 {source="Orphanet:650"} ! hypoalphalipoproteinemia relationship: excluded_subClassOf MONDO:0005328 ! eye disorder -relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:650"} ! nephropathy secondary to a storage or other metabolic disease +relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:650"} ! obsolete nephropathy secondary to a storage or other metabolic disease relationship: has_characteristic MONDO:0021136 ! rare [Term] @@ -366784,7 +366739,7 @@ xref: UMLS:C2347126 {source="MONDO:equivalentTo", source="NCIT:C70549"} is_a: MONDO:0015492 {source="MESH:D055953", source="Orphanet:727"} ! anti-neutrophil cytoplasmic antibody-associated vasculitis is_a: MONDO:0043494 {source="NCIT:C70549"} ! arteritis is_a: MONDO:0800113 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! necrotizing vasculitis -relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:727"} ! secondary glomerular disease +relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:727"} ! obsolete secondary glomerular disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3652/microscopic-polyangiitis" xsd:anyURI {source="GARD:0003652"} @@ -366810,7 +366765,7 @@ xref: SCTID:72275000 {source="DOID:2556", source="MONDO:equivalentTo", source="E xref: SCTID:85780006 {source="DOID:2556"} xref: UMLS:C0032453 {source="DOID:2556", source="MONDO:equivalentTo", source="Orphanet:728", source="Orphanet:728/e"} is_a: MONDO:0002342 {source="DOID:2556"} ! chondromalacia -relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:728"} ! secondary glomerular disease +relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:728"} ! obsolete secondary glomerular disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7417/relapsing-polychondritis" xsd:anyURI {source="GARD:0007417"} [Term] @@ -366848,7 +366803,7 @@ xref: UMLS:C0085655 {source="Orphanet:732", source="MONDO:equivalentTo", source= xref: Wikipedia:Polymyositis {source="EFO:0003063"} is_a: MONDO:0020122 {source="Orphanet:732", source="https://orcid.org/0000-0001-5208-3432"} ! acquired idiopathic inflammatory myopathy is_a: MONDO:0021167 {source="EFO:0003063", source="MESH:D017285", source="NCIT:C26925"} ! myositis disease -relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:732"} ! secondary glomerular disease +relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:732"} ! obsolete secondary glomerular disease [Term] id: MONDO:0019128 @@ -367129,7 +367084,7 @@ is_a: MONDO:0015951 {source="Orphanet:738"} ! hereditary photodermatosis is_a: MONDO:0017754 {source="MONDO:Redundant", source="Orphanet:738"} ! inborn disorder of porphyrin metabolism intersection_of: MONDO:0037939 ! porphyria intersection_of: has_characteristic MONDO:0021152 ! inherited -relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:738"} ! nephropathy secondary to a storage or other metabolic disease +relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:738"} ! obsolete nephropathy secondary to a storage or other metabolic disease relationship: has_characteristic MONDO:0021136 ! rare property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10353/porphyria" xsd:anyURI {source="GARD:0010353"} @@ -367690,7 +367645,7 @@ is_a: MONDO:0006794 {source="DOID:11123"} ! hypersensitivity vasculitis is_a: MONDO:0015491 {source="Orphanet:761"} ! immune complex mediated vasculitis is_a: MONDO:0018882 {source="MESH:D011695", source="NCIT:C34963"} ! vasculitis is_a: MONDO:0800113 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! necrotizing vasculitis -relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:761"} ! secondary glomerular disease +relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:761"} ! obsolete secondary glomerular disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4092" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI @@ -367789,7 +367744,7 @@ xref: SCTID:66121003 {source="DOID:9810"} xref: UMLS:C0031036 {source="DOID:9810", source="Orphanet:767", source="MONDO:equivalentTo", source="Orphanet:767/e", source="NCIT:C26847"} is_a: MONDO:0043494 {source="MESH:D010488", source="NCIT:C26847"} ! arteritis relationship: excluded_subClassOf MONDO:0016177 {source="Orphanet:767"} ! obsolete systemic inflammatory disease associated with an acquired peripheral neuropathy -relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:767"} ! secondary glomerular disease +relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:767"} ! obsolete secondary glomerular disease [Term] id: MONDO:0019171 @@ -370861,7 +370816,7 @@ relationship: excluded_subClassOf MONDO:0016345 {source="Orphanet:797"} ! non-fa relationship: excluded_subClassOf MONDO:0017259 {source="Orphanet:797"} ! obsolete systemic diseases with anterior uveitis relationship: excluded_subClassOf MONDO:0017260 {source="Orphanet:797"} ! obsolete systemic diseases with posterior uveitis relationship: excluded_subClassOf MONDO:0017261 {source="Orphanet:797"} ! obsolete systemic diseases with panuveitis -relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:797"} ! secondary glomerular disease +relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:797"} ! obsolete secondary glomerular disease relationship: excluded_subClassOf MONDO:0019843 {source="Orphanet:797"} ! obsolete pituitary hormone deficiency secondary to a granulomatous disease [Term] @@ -371311,7 +371266,7 @@ is_a: MONDO:0019751 {source="PMID:23827249"} ! autoinflammatory syndrome relationship: disease_has_feature MONDO:0002258 {source="MONDO:Wikidata"} ! pharyngitis relationship: disease_has_feature MONDO:0015540 {source="MONDO:Wikidata"} ! hemophagocytic syndrome relationship: excluded_subClassOf MONDO:0005554 {source="Orphanet:829"} ! rheumatic disorder -relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:829"} ! secondary glomerular disease +relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:829"} ! obsolete secondary glomerular disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015940"} ! rare property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/436/adult-onset-stills-disease" xsd:anyURI {source="GARD:0000436"} @@ -372096,7 +372051,7 @@ xref: SCTID:708127008 {source="MONDO:equivalentTo"} xref: UMLS:C3872695 {source="MONDO:equivalentTo"} xref: UMLS:CN206095 {source="MONDO:equivalentTo"} is_a: MONDO:0019722 {source="https://orcid.org/0000-0001-5208-3432"} ! glomerular disorder -relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:84087"} ! secondary glomerular disease +relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:84087"} ! obsolete secondary glomerular disease [Term] id: MONDO:0019397 @@ -372759,7 +372714,7 @@ is_a: MONDO:0016179 {source="Orphanet:85443"} ! acquired amyloid peripheral neur is_a: MONDO:0016330 {source="Orphanet:85443"} ! non-familial hypertrophic cardiomyopathy is_a: MONDO:0016345 {source="Orphanet:85443"} ! non-familial restrictive cardiomyopathy is_a: MONDO:0019065 {source="MESH:C531616", source="Orphanet:85443"} ! amyloidosis -relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:85443"} ! secondary glomerular disease +relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:85443"} ! obsolete secondary glomerular disease property_value: confidence "0.5185185185185188" xsd:double [Term] @@ -372785,7 +372740,7 @@ xref: UMLS:C3536715 {source="MONDO:equivalentTo"} is_a: MONDO:0016179 {source="Orphanet:85445"} ! acquired amyloid peripheral neuropathy is_a: MONDO:0016345 {source="Orphanet:85445"} ! non-familial restrictive cardiomyopathy is_a: MONDO:0019065 {source="NCIT:C3818", source="Orphanet:85445"} ! amyloidosis -relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:85445"} ! secondary glomerular disease +relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:85445"} ! obsolete secondary glomerular disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10560/amyloidosis-aa" xsd:anyURI {source="GARD:0010560"} [Term] @@ -373282,7 +373237,7 @@ xref: ICD10CM:D89.8 {source="Orphanet:86861", source="Orphanet:86861/ntbt"} xref: Orphanet:86861 {source="MONDO:equivalentTo"} xref: UMLS:CN206242 {source="MONDO:equivalentTo"} is_a: MONDO:0004959 {source="Orphanet:86861"} ! plasma cell neoplasm -relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:86861"} ! secondary glomerular disease +relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:86861"} ! obsolete secondary glomerular disease [Term] id: MONDO:0019464 @@ -375984,7 +375939,7 @@ synonym: "Immunotactoid or fibrillary glomerulonephritis" EXACT [Orphanet:91137] xref: ICD10CM:N03.6 {source="Orphanet:91137", source="Orphanet:91137/ntbt"} xref: Orphanet:91137 {source="MONDO:equivalentTo"} is_a: MONDO:0019722 {source="https://orcid.org/0000-0001-5208-3432"} ! glomerular disorder -relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:91137"} ! secondary glomerular disease +relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:91137"} ! obsolete secondary glomerular disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12741/immunotactoid-or-fibrillary-glomerulopathy" xsd:anyURI {source="GARD:0012741"} [Term] @@ -376051,7 +376006,7 @@ is_a: MONDO:0002254 {source="MONDO:0019609/inferred", source="MONDO:Redundant", is_a: MONDO:0015327 {source="Orphanet:912"} ! developmental anomaly of metabolic origin is_a: MONDO:0019234 {source="NCIT:C85239", source="Orphanet:912"} ! peroxisome biogenesis disorder relationship: excluded_subClassOf MONDO:0005328 ! eye disorder -relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:912"} ! nephropathy secondary to a storage or other metabolic disease +relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:912"} ! obsolete nephropathy secondary to a storage or other metabolic disease relationship: has_characteristic MONDO:0021136 ! rare property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/pull/2571/" xsd:anyURI @@ -376649,7 +376604,6 @@ xref: SCTID:32659003 {source="MONDO:equivalentTo"} xref: UMLS:C0266295 {source="Orphanet:93101", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2608080 {source="Orphanet:93101", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0005240 {source="DOID:0080204", source="MONDO:Redundant", source="Orphanet:93101", source="Orphanet:93101/inferred"} ! kidney disorder -is_a: MONDO:0019720 {source="Orphanet:93101"} ! non-syndromic renal or urinary tract malformation is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:93101", source="Orphanet:93101/inferred"} ! disorder of development or morphogenesis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960", source="MONDO:0020030"} ! rare property_value: IAO:0000589 "renal hypoplasia (disease)" xsd:string @@ -376666,7 +376620,6 @@ xref: ICD10CM:Q61.4 {source="Orphanet:93108/e", source="Orphanet:93108/specific" xref: Orphanet:93108 {source="MONDO:equivalentTo"} xref: UMLS:C3536714 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:93108"} is_a: MONDO:0005240 {source="MONDO:Redundant", source="Orphanet:93108", source="Orphanet:93108/inferred"} ! kidney disorder -is_a: MONDO:0019720 {source="Orphanet:93108"} ! non-syndromic renal or urinary tract malformation is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:93108", source="Orphanet:93108/inferred"} ! disorder of development or morphogenesis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015960", source="MONDO:0020030"} ! rare property_value: IAO:0000589 "renal dysplasia (disease)" xsd:string @@ -376680,7 +376633,7 @@ xref: ICD10CM:Q63.8 {source="Orphanet:93109/ntbt", source="Orphanet:93109"} xref: ICD9:753.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:93109 {source="MONDO:equivalentTo"} xref: SCTID:85901000 {source="MONDO:equivalentTo"} -is_a: MONDO:0019720 {source="Orphanet:93109"} ! non-syndromic renal or urinary tract malformation +is_a: MONDO:0005240 {source="https://orcid.org/0000-0001-5208-3432"} ! kidney disorder 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 @@ -376711,7 +376664,7 @@ subset: ordo_disease {source="Orphanet:93126"} xref: ICD10CM:N05.7 {source="Orphanet:93126", source="Orphanet:93126/ntbt"} xref: Orphanet:93126 {source="MONDO:equivalentTo"} is_a: MONDO:0002462 {source="https://orcid.org/0000-0001-5208-3432"} ! glomerulonephritis -relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:93126"} ! secondary glomerular disease +relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:93126"} ! obsolete secondary glomerular disease [Term] id: MONDO:0019642 @@ -377765,23 +377718,19 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:610805"} ! inheri [Term] id: MONDO:0019720 -name: non-syndromic renal or urinary tract malformation -def: "A renal or urinary tract malformation that is not part of a larger syndrome." [MONDO:patterns/isolated] -comment: Reason of obsoletion: out of scope - MONDO:excludeGrouping. This is part of a large mass-obsoletion effort for ORDO terms. -subset: disease_grouping -subset: obsoletion_candidate -subset: ordo_group_of_disorders {source="Orphanet:93546"} +name: obsolete non-syndromic renal or urinary tract malformation +def: "OBSOLETE. A renal or urinary tract malformation that is not part of a larger syndrome." [MONDO:patterns/isolated] synonym: "isolated congenital anomaly of kidney and urinary tract" EXACT [] synonym: "isolated renal or urinary tract malformation" RELATED [https://orcid.org/0000-0002-6601-2165] synonym: "nonsyndromic congenital anomaly of kidney and urinary tract" EXACT [MONDO:patterns/isolated] synonym: "nonsyndromic renal or urinary tract malformation" EXACT [https://orcid.org/0000-0002-6601-2165, MONDO:patterns/isolated] xref: Orphanet:357506 {source="MONDO:mondoIsBroaderThanSource"} -xref: Orphanet:93546 {source="MONDO:equivalentTo"} -is_a: MONDO:0005240 {source="https://orcid.org/0000-0001-5208-3432"} ! kidney disorder -is_a: MONDO:0019356 {source="https://orcid.org/0000-0001-5208-3432"} ! urogenital tract malformation +xref: Orphanet:93546 {source="MONDO:obsoleteEquivalent"} relationship: excluded_subClassOf MONDO:0019719 {source="MONDO:Redundant", source="Orphanet:93546"} ! congenital anomaly of kidney and urinary tract +property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI -property_value: IAO:0006012 "2023-10-01" xsd:string +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6696" xsd:anyURI +is_obsolete: true [Term] id: MONDO:0019721 @@ -377826,36 +377775,25 @@ relationship: has_characteristic MONDO:0021136 {source="MONDO:0019750"} ! rare [Term] id: MONDO:0019723 -name: disease of glomerular basement membrane -comment: Reason of obsoletion: out of scope - MONDO:excludeGrouping. This is part of a large mass-obsoletione effort for ORDO terms. -subset: disease_grouping -subset: obsoletion_candidate -subset: ordo_group_of_disorders {source="Orphanet:93550"} +name: obsolete disease of glomerular basement membrane synonym: "basement membrane disease" BROAD [Orphanet:93550] -xref: Orphanet:93550 {source="MONDO:equivalentObsolete"} -xref: UMLS:CN206630 {source="MONDO:equivalentTo"} -is_a: MONDO:0005240 {source="Orphanet:93550", source="Orphanet:93550/inferred"} ! kidney disorder -is_a: MONDO:0019722 {source="MONDO:Redundant", source="Orphanet:93550"} ! glomerular disorder -intersection_of: MONDO:0000001 ! disease -intersection_of: disease_has_location GO:0005604 ! basement membrane -intersection_of: disease_has_location UBERON:0005777 ! glomerular basement membrane -relationship: has_characteristic MONDO:0021136 {source="MONDO:0020030"} ! rare +xref: Orphanet:93550 {source="MONDO:obsoleteEquivalentObsolete"} +xref: UMLS:CN206630 {source="MONDO:obsoleteEquivalent"} +property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI -property_value: IAO:0006012 "2023-10-01" xsd:string +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6696" xsd:anyURI +is_obsolete: true [Term] id: MONDO:0019724 -name: secondary glomerular disease -def: "Secondary glomerular diseases are conditions with glomerular pathology in which an underlying cause can be established." [https://doi.org/10.1016/j.mpmed.2007.06.008] -comment: Reason of obsoletion: out of scope - MONDO:excludeGrouping. This is part of a large mass-obsoletion effort for ORDO terms. -subset: disease_grouping -subset: obsoletion_candidate -subset: ordo_group_of_disorders {source="Orphanet:93551"} -xref: Orphanet:93551 {source="MONDO:equivalentObsolete"} -xref: UMLS:CN206631 {source="MONDO:equivalentTo"} -is_a: MONDO:0019722 {source="Orphanet:93551"} ! glomerular disorder +name: obsolete secondary glomerular disease +def: "OBSOLETE. Secondary glomerular diseases are conditions with glomerular pathology in which an underlying cause can be established." [https://doi.org/10.1016/j.mpmed.2007.06.008] +xref: Orphanet:93551 {source="MONDO:obsoleteEquivalentObsolete"} +xref: UMLS:CN206631 {source="MONDO:obsoleteEquivalent"} +property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI -property_value: IAO:0006012 "2023-10-01" xsd:string +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6696" xsd:anyURI +is_obsolete: true [Term] id: MONDO:0019725 @@ -377873,7 +377811,7 @@ intersection_of: MONDO:0007915 ! systemic lupus erythematosus intersection_of: has_characteristic HP:0011463 ! Childhood onset relationship: excluded_subClassOf MONDO:0015657 {source="Orphanet:93552"} ! obsolete inflammatory and autoimmune disease with epilepsy relationship: excluded_subClassOf MONDO:0017021 {source="Orphanet:93552"} ! obsolete secondary interstitial lung disease specific to childhood associated with a connective tissue disease -relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:93552"} ! secondary glomerular disease +relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:93552"} ! obsolete secondary glomerular disease relationship: excluded_subClassOf MONDO:0019737 {source="Orphanet:93552"} ! thrombotic microangiopathy [Term] @@ -377997,7 +377935,7 @@ xref: SCTID:738526005 {source="MONDO:equivalentTo"} xref: UMLS:C3826988 {source="MONDO:equivalentTo", source="NCIT:C114358"} is_a: MONDO:0018010 {source="Orphanet:93568"} ! juvenile idiopathic inflammatory myopathy is_a: MONDO:0019127 {source="EFO:1001988", source="NCIT:C114358"} ! polymyositis -relationship: excluded_subClassOf MONDO:0019724 {source="MONDO:Redundant", source="Orphanet:93568"} ! secondary glomerular disease +relationship: excluded_subClassOf MONDO:0019724 {source="MONDO:Redundant", source="Orphanet:93568"} ! obsolete secondary glomerular disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12742/juvenile-polymyositis" xsd:anyURI {source="GARD:0012742"} [Term] @@ -378146,17 +378084,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0019743 -name: nephropathy secondary to a storage or other metabolic disease -comment: Reason of obsoletion: out of scope - MONDO:excludeGrouping. This is part of a large mass-obsoletion effort for ORDO terms. -subset: disease_grouping -subset: obsoletion_candidate -subset: ordo_group_of_disorders {source="Orphanet:93593"} -xref: Orphanet:93593 {source="MONDO:equivalentTo"} -xref: UMLS:CN206659 {source="MONDO:equivalentTo"} -is_a: MONDO:0005240 {source="Orphanet:93593"} ! kidney disorder -relationship: has_characteristic MONDO:0021136 {source="MONDO:0020030"} ! rare +name: obsolete nephropathy secondary to a storage or other metabolic disease +xref: Orphanet:93593 {source="MONDO:obsoleteEquivalent"} +xref: UMLS:CN206659 {source="MONDO:obsoleteEquivalent"} +property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI -property_value: IAO:0006012 "2023-10-01" xsd:string +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6696" xsd:anyURI +is_obsolete: true [Term] id: MONDO:0019744 @@ -407516,17 +407450,12 @@ property_value: IAO:0006012 "2023-09-01" xsd:string [Term] id: MONDO:0022409 -name: nephropathy-associated ciliopathy -comment: Reason of obsoletion: out of scope - MONDO:excludeGrouping. This is part of a large mass-obsoletion effort for ORDO terms. -subset: disease_grouping -subset: obsoletion_candidate -subset: ordo_group_of_disorders -xref: Orphanet:156162 {source="MONDO:equivalentTo"} -is_a: MONDO:0005308 {source="Orphanet:156162"} ! ciliopathy -intersection_of: MONDO:0005308 ! ciliopathy -intersection_of: disease_has_location UBERON:0002113 ! kidney +name: obsolete nephropathy-associated ciliopathy +xref: Orphanet:156162 {source="MONDO:obsoleteEquivalent"} +property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI -property_value: IAO:0006012 "2023-10-01" xsd:string +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6696" xsd:anyURI +is_obsolete: true [Term] id: MONDO:0022410 @@ -453438,18 +453367,17 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-520 [Term] id: MONDO:0100343 -name: antenatal Bartter syndrome -def: "A phenotypic variant of Bartter syndrome presenting antenatally with maternal polyhydramnios, pre-term delivery and postnatally with polyuria, and nephrocalcinosis. Hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II are characteristically associated. Genotypically they comprise Type 1 and Type 2 Bartter syndrome." [Orphanet:93604] -comment: Reason of obsoletion: out of scope - MONDO:excludeGrouping. This is part of a large mass-obsoletione effort for ORDO terms. -subset: obsoletion_candidate +name: obsolete antenatal Bartter syndrome +def: "OBSOLETE. A phenotypic variant of Bartter syndrome presenting antenatally with maternal polyhydramnios, pre-term delivery and postnatally with polyuria, and nephrocalcinosis. Hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II are characteristically associated. Genotypically they comprise Type 1 and Type 2 Bartter syndrome." [Orphanet:93604] synonym: "Bartter syndrome, furosemide type" EXACT [Orphanet:93604] synonym: "Bartter syndrome, furosemide-amiloride type" EXACT [Orphanet:93604] synonym: "hyperprostaglandin E syndrome" EXACT [Orphanet:93604] -xref: Orphanet:93604 {source="MONDO:equivalentObsolete"} -is_a: MONDO:0015231 {source="Orphanet:93604", source="https://github.com/monarch-initiative/mondo/issues/2935", source="https://orcid.org/0000-0001-5493-2602"} ! Bartter syndrome +xref: Orphanet:93604 {source="MONDO:obsoleteEquivalentObsolete"} property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 +property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI -property_value: IAO:0006012 "2023-09-01" xsd:string +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6696" xsd:anyURI +is_obsolete: true [Term] id: MONDO:0100344 @@ -453486,7 +453414,6 @@ xref: Orphanet:93604 {source="OMIM:601678"} xref: SCTID:700107006 {source="MONDO:equivalentTo"} xref: UMLS:C1866495 {source="OMIM:601678", source="GARD:0000830", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0015231 {source="DC-OMIM:601678", source="DOID:0110142", source="MESH:C537652", source="MONDO:Redundant", source="OMIM:601678", source="Orphanet:93604"} ! Bartter syndrome -is_a: MONDO:0100343 {source="https://github.com/monarch-initiative/mondo/issues/2935", source="https://orcid.org/0000-0001-5493-2602"} ! antenatal Bartter syndrome intersection_of: MONDO:0015231 ! Bartter syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10910 ! SLC12A1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10910 {source="MONDO:mim2gene_medgen"} ! SLC12A1