@@ -43894,9 +43894,9 @@ SubClassOf(obo:DOID_0061117 obo:DOID_0050857)
4389443894AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/31488840/") obo:IAO_0000115 obo:DOID_0061118 "An autosomal dominant tubulointerstitial kidney disease characterized by adult onset of impaired renal function and salt wasting resulting in chronic renal insufficiency and end-stage renal failure by the sixth decade that has_material_basis_in eterozygous mutation in the MUC1 gene on chromosome 1q22.")
4389543895AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061118 "MIM:174000")
4389643896AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0061118 "HNFJ2")
43897- AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0061118 "MCKD2")
4389843897AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0061118 "familial juvenile hyperuricemic nephropathy 2")
4389943898AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0061118 "medullary cystic kidney disease 2")
43899+ AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0061118 "MCKD1")
4390043900AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061118 "disease_ontology")
4390143901AnnotationAssertion(oboInOwl:id obo:DOID_0061118 "DOID:0061118")
4390243902AnnotationAssertion(rdfs:label obo:DOID_0061118 "autosomal dominant tubulointerstitial kidney disease 2")
@@ -43949,9 +43949,9 @@ SubClassOf(obo:DOID_0061121 ObjectSomeValuesFrom(obo:RO_0002488 obo:HP_0003581))
4394943949AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/31488840/") obo:IAO_0000115 obo:DOID_0061122 "An autosomal dominant tubulointerstitial kidney disease characterized by elevated serum uric acid (hyperuricemia) due to low fractional excretion of uric acid, defective urinary concentrating ability, 'bland' urinary sediment, and progression to end-stage renal failure that has_material_basis_in heterozygous mutation in the gene encoding uromodulin on chromosome 16p12.")
4395043950AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061122 "MIM:162000")
4395143951AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0061122 "HNFJ1")
43952- AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0061122 "MCKD1")
4395343952AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0061122 "familial juvenile hyperuricemic nephropathy 1")
4395443953AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0061122 "medullary cystic kidney disease 1")
43954+ AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0061122 "MCKD2")
4395543955AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061122 "disease_ontology")
4395643956AnnotationAssertion(oboInOwl:id obo:DOID_0061122 "DOID:0061122")
4395743957AnnotationAssertion(rdfs:label obo:DOID_0061122 "autosomal dominant tubulointerstitial kidney disease 1")
@@ -44267,6 +44267,8 @@ AnnotationAssertion(oboInOwl:id obo:DOID_0061150 "DOID:0061150")
4426744267AnnotationAssertion(rdfs:comment obo:DOID_0061150 "MIM:146200")
4426844268AnnotationAssertion(rdfs:label obo:DOID_0061150 "familial isolated hypoparathyroidism 1")
4426944269SubClassOf(obo:DOID_0061150 obo:DOID_0111387)
44270+ SubClassOf(obo:DOID_0061150 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
44271+ SubClassOf(obo:DOID_0061150 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
4427044272
4427144273# Class: obo:DOID_0061151 (familial isolated hypoparathyroidism 2)
4427244274
@@ -44277,6 +44279,8 @@ AnnotationAssertion(oboInOwl:id obo:DOID_0061151 "DOID:0061151")
4427744279AnnotationAssertion(rdfs:comment obo:DOID_0061151 "MIM:618883")
4427844280AnnotationAssertion(rdfs:label obo:DOID_0061151 "familial isolated hypoparathyroidism 2")
4427944281SubClassOf(obo:DOID_0061151 obo:DOID_0111387)
44282+ SubClassOf(obo:DOID_0061151 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
44283+ SubClassOf(obo:DOID_0061151 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
4428044284
4428144285# Class: obo:DOID_0070000 (3-methylglutaconic aciduria type 8)
4428244286
@@ -90544,7 +90548,6 @@ AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0111387 "disease_ontology"
9054490548AnnotationAssertion(oboInOwl:id obo:DOID_0111387 "DOID:0111387")
9054590549AnnotationAssertion(rdfs:label obo:DOID_0111387 "familial isolated hypoparathyroidism")
9054690550SubClassOf(obo:DOID_0111387 obo:DOID_11199)
90547- SubClassOf(obo:DOID_0111387 ObjectUnionOf(obo:GENO_0000147 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148)))
9054890551
9054990552# Class: obo:DOID_0111388 (X-linked hypoparathyroidism)
9055090553
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