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Add autosomal dominant tubulointerstitial kidney disease subtypes
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‎src/ontology/doid-edit.owl‎

Lines changed: 79 additions & 7 deletions
Original file line numberDiff line numberDiff line change
@@ -2148,6 +2148,11 @@ Declaration(Class(obo:DOID_0061114))
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Declaration(Class(obo:DOID_0061115))
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Declaration(Class(obo:DOID_0061116))
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Declaration(Class(obo:DOID_0061117))
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Declaration(Class(obo:DOID_0061118))
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Declaration(Class(obo:DOID_0061119))
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Declaration(Class(obo:DOID_0061120))
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Declaration(Class(obo:DOID_0061121))
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Declaration(Class(obo:DOID_0061122))
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Declaration(Class(obo:DOID_0070000))
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Declaration(Class(obo:DOID_0070001))
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Declaration(Class(obo:DOID_0070002))
@@ -29375,20 +29380,22 @@ AnnotationAssertion(oboInOwl:inSubset obo:DOID_0060061 doid:NCIthesaurus)
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AnnotationAssertion(rdfs:label obo:DOID_0060061 "primary cutaneous T-cell non-Hodgkin lymphoma")
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SubClassOf(obo:DOID_0060061 obo:DOID_0050749)
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29378-
# Class: obo:DOID_0060062 (familial juvenile hyperuricemic nephropathy)
29383+
# Class: obo:DOID_0060062 (autosomal dominant tubulointerstitial kidney disease)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/21060763") obo:IAO_0000115 obo:DOID_0060062 "A kidney disease that is characterized by hyperuricemia with renal uric acid under-excretion, gout and chronic kidney disease.")
29381-
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060062 "MIM:162000")
29382-
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060062 "MIM:613092")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060062 "MIM:614227")
29384-
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060062 "ORDO:209886")
29385-
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060062 "ORDO:217330")
29387+
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060062 "ORDO:34149")
29388+
AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0060062 "HNFJ2")
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AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0060062 "MCKD1")
29390+
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060062 "familial juvenile hyperuricemic nephropathy")
29391+
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060062 "medullary cystic kidney disease")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0060062 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0060062 "DOID:0060062")
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AnnotationAssertion(oboInOwl:inSubset obo:DOID_0060062 doid:DO_rare_slim)
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AnnotationAssertion(rdfs:comment obo:DOID_0060062 "Xref MGI. OMIM mapping confirmed by DO. [LS].")
29390-
AnnotationAssertion(rdfs:label obo:DOID_0060062 "familial juvenile hyperuricemic nephropathy")
29396+
AnnotationAssertion(rdfs:label obo:DOID_0060062 "autosomal dominant tubulointerstitial kidney disease")
2939129397
SubClassOf(obo:DOID_0060062 obo:DOID_557)
29398+
SubClassOf(obo:DOID_0060062 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
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SubClassOf(obo:DOID_0060062 ObjectSomeValuesFrom(obo:RO_0002488 obo:HP_0011462))
2939329400

2939429401
# Class: obo:DOID_0060063 (sideroblastic anemia 1)
@@ -43791,6 +43798,71 @@ AnnotationAssertion(oboInOwl:id obo:DOID_0061117 "DOID:0061117")
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AnnotationAssertion(rdfs:label obo:DOID_0061117 "Perrault syndrome 2")
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SubClassOf(obo:DOID_0061117 obo:DOID_0050857)
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# Class: obo:DOID_0061118 (autosomal dominant tubulointerstitial kidney disease 2)
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AnnotationAssertion(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.")
43804+
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061118 "MIM:174000")
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AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0061118 "HNFJ2")
43806+
AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0061118 "MCKD2")
43807+
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0061118 "familial juvenile hyperuricemic nephropathy 2")
43808+
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0061118 "medullary cystic kidney disease 2")
43809+
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061118 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0061118 "DOID:0061118")
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AnnotationAssertion(rdfs:label obo:DOID_0061118 "autosomal dominant tubulointerstitial kidney disease 2")
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SubClassOf(obo:DOID_0061118 obo:DOID_0060062)
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# Class: obo:DOID_0061119 (autosomal dominant tubulointerstitial kidney disease 4)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/19664745/") obo:IAO_0000115 obo:DOID_0061119 "An autosomal dominant tubulointerstitial kidney disease characterized by early-onset anemia and increased serum uric acid with a bland urinalysis and without proteinuria that has_material_basis_in heterozygous mutation in the renin gene on chromosome 1q32.")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061119 "MIM:613092")
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AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0061119 "HNFJ4")
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AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0061119 "MCKD4")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0061119 "familial juvenile hyperuricemic nephropathy 4")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0061119 "medullary cystic kidney disease 4")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061119 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0061119 "DOID:0061119")
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AnnotationAssertion(rdfs:label obo:DOID_0061119 "autosomal dominant tubulointerstitial kidney disease 4")
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SubClassOf(obo:DOID_0061119 obo:DOID_0060062)
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# Class: obo:DOID_0061120 (autosomal dominant tubulointerstitial kidney disease 5)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27392076/") obo:IAO_0000115 obo:DOID_0061120 "An autosomal dominant tubulointerstitial kidney disease characterized by the onset of progressive chronic renal disease in the first decades of life that has_material_basis_in heterozygous mutation in the SEC61A1 gene on chromosome 3q21.")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061120 "MIM:617056")
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AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0061120 "HNFJ5")
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AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0061120 "MCKD5")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0061120 "familial juvenile hyperuricemic nephropathy 5")
43834+
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0061120 "medullary cystic kidney disease 5")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061120 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0061120 "DOID:0061120")
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AnnotationAssertion(rdfs:label obo:DOID_0061120 "autosomal dominant tubulointerstitial kidney disease 5")
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SubClassOf(obo:DOID_0061120 obo:DOID_0060062)
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# Class: obo:DOID_0061121 (autosomal dominant tubulointerstitial kidney disease 6)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/38096951/") obo:IAO_0000115 obo:DOID_0061121 "An autosomal dominant tubulointerstitial kidney disease characterized by the onset of slowly progressive chronic renal failure beginning in mid-to-late adulthood that has_material_basis_in heterozygous mutation in the APOA4 gene on chromosome 11q23.")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061121 "MIM:621106")
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AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0061121 "HNFJ6")
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AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0061121 "MCKD6")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0061121 "familial juvenile hyperuricemic nephropathy 6")
43847+
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0061121 "medullary cystic kidney disease 6")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061121 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0061121 "DOID:0061121")
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AnnotationAssertion(rdfs:label obo:DOID_0061121 "autosomal dominant tubulointerstitial kidney disease 6")
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SubClassOf(obo:DOID_0061121 obo:DOID_0060062)
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# Class: obo:DOID_0061122 (autosomal dominant tubulointerstitial kidney disease 1)
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AnnotationAssertion(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.")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061122 "MIM:162000")
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AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0061122 "HNFJ1")
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AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0061122 "MCKD1")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0061122 "familial juvenile hyperuricemic nephropathy 1")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0061122 "medullary cystic kidney disease 1")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061122 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0061122 "DOID:0061121")
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AnnotationAssertion(rdfs:label obo:DOID_0061122 "autosomal dominant tubulointerstitial kidney disease 1")
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SubClassOf(obo:DOID_0061122 obo:DOID_0060062)
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# Class: obo:DOID_0070000 (3-methylglutaconic aciduria type 8)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27208207") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27696117") obo:IAO_0000115 obo:DOID_0070000 "A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the HTRA2 gene on chromosome 2p13.")
@@ -56045,7 +56117,7 @@ SubClassOf(obo:DOID_0080309 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000014
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# Class: obo:DOID_0080311 (Billuart-type X-linked syndromic intellectual developmental disorder)
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56048-
AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16158428") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/20528889/") obo:IAO_0000115 obo:DOID_0080311 "A syndromic X-linked intellectual disability characterized by moderately to severely impaired intellectual development, cerebellar hypoplasia, and seizures that has_material_basis_in mutation in the oligophrenin-1 gene on chromosome Xq12.")
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/20528889/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16158428") obo:IAO_0000115 obo:DOID_0080311 "A syndromic X-linked intellectual disability characterized by moderately to severely impaired intellectual development, cerebellar hypoplasia, and seizures that has_material_basis_in mutation in the oligophrenin-1 gene on chromosome Xq12.")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080311 "MIM:300486")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0080311 "X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0080311 "disease_ontology")

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