@@ -43893,9 +43893,9 @@ SubClassOf(obo:DOID_0061117 obo:DOID_0050857)
4389343893
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")
43896- AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0061118 "MCKD1")
4389743896AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0061118 "ADMCKD1")
4389843897AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0061118 "ADTKD2")
43898+ AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0061118 "MCKD1")
4389943899AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0061118 "autosomal dominant medullary cystic kidney disease")
4390043900AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0061118 "medullary cystic kidney disease 1")
4390143901AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0061118 "medullary type polycystic kidneys")
@@ -43945,14 +43945,14 @@ SubClassOf(obo:DOID_0061121 ObjectSomeValuesFrom(obo:RO_0002488 obo:HP_0003581))
4394543945
4394643946AnnotationAssertion(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.")
4394743947AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061122 "MIM:162000")
43948- AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0061122 "HNFJ1")
43949- AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0061122 "MCKD2")
43950- AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0061122 "familial juvenile hyperuricemic nephropathy 1")
4395143948AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0061122 "ADMCKD2")
4395243949AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0061122 "FJHN")
43950+ AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0061122 "HNFJ1")
43951+ AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0061122 "MCKD2")
4395343952AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0061122 "autosomal dominant medullary cystic kidney disease 2")
4395443953AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0061122 "familial juvenile gouty nephropathy")
4395543954AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0061122 "familial juvenile hyperuricemic nephropathy")
43955+ AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0061122 "familial juvenile hyperuricemic nephropathy 1")
4395643956AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0061122 "glomerulocystic kidney disease with hyperuricemia and isosthenuria")
4395743957AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0061122 "medullary cystic kidney disease 2")
4395843958AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061122 "disease_ontology")
@@ -75833,7 +75833,6 @@ AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasD
7583375833AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0110303 "ICD10CM:G71.0")
7583475834AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0110303 "MIM:613530")
7583575835AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0110303 "ORDO:238755")
75836- AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0110303 "LGMD1H")
7583775836AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0110303 "muscular dystrophy limb-girdle type 1H")
7583875837AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0110303 "disease_ontology")
7583975838AnnotationAssertion(oboInOwl:id obo:DOID_0110303 "DOID:0110303")
@@ -75847,7 +75846,6 @@ AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasD
7584775846AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0110304 "ICD10CM:G71.0")
7584875847AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0110304 "MIM:608423")
7584975848AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0110304 "ORDO:55595")
75850- AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0110304 "LGMD1F")
7585175849AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0110304 "autosomal dominant limb-girdle muscular dystrophy type 1F")
7585275850AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0110304 "muscular dystrophy limb-girdle type 1F")
7585375851AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0110304 "disease_ontology")
@@ -75862,7 +75860,6 @@ AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasD
7586275860AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0110305 "ICD10CM:G71.0")
7586375861AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0110305 "MIM:603511")
7586475862AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0110305 "ORDO:34517")
75865- AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0110305 "LGMD1D")
7586675863AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0110305 "autosomal dominant limb-girdle muscular dystrophy type 1E")
7586775864AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0110305 "muscular dystrophy limb-girdle type 1D")
7586875865AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0110305 "muscular dystrophy limb-girdle type 1E")
@@ -75878,7 +75875,6 @@ AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasD
7587875875AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0110306 "ICD10CM:G71.0")
7587975876AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0110306 "MIM:609115")
7588075877AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0110306 "ORDO:55596")
75881- AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0110306 "LGMD1G")
7588275878AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0110306 "autosomal dominant limb-girdle muscular dystrophy type 1G")
7588375879AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0110306 "muscular dystrophy limb-girdle type 1G")
7588475880AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0110306 "disease_ontology")
@@ -90545,8 +90541,8 @@ SubClassOf(obo:DOID_0111386 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000014
9054590541# Class: obo:DOID_0111387 (familial isolated hypoparathyroidism)
9054690542
9054790543AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/2212001") obo:IAO_0000115 obo:DOID_0111387 "A hypoparathyroidism characterized by by abnormal calcium metabolism causing hypocalcemia due to insufficient serum levels of bioactive parathormone (PTH), without other endocrine disorders or developmental defects.")
90548- AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111387 "MIM:PS146200")
9054990544AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111387 "GARD:2910")
90545+ AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111387 "MIM:PS146200")
9055090546AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111387 "ORDO:2238")
9055190547AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0111387 "FIH")
9055290548AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0111387 "disease_ontology")
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