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Add nephrotic syndrome type 26
Github ticket #1533
1 parent 9bb6cd4 commit 2187425

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src/ontology/doid-edit.owl

Lines changed: 19 additions & 6 deletions
Original file line numberDiff line numberDiff line change
@@ -2227,6 +2227,7 @@ Declaration(Class(obo:DOID_0061189))
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Declaration(Class(obo:DOID_0061190))
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Declaration(Class(obo:DOID_0061191))
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Declaration(Class(obo:DOID_0061192))
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Declaration(Class(obo:DOID_0061193))
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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))
@@ -34039,9 +34040,9 @@ AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060346 "ORDO:168572")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060346 "SNOMEDCT_US_2023_03_01:723439002")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060346 "UMLS_CUI:C1850625")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060346 "Bailey-Bloch congenital myopathy")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060346 "congenital myopathy 13")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060346 "Native American myopathy")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060346 "STAC3 disorder")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060346 "congenital myopathy 13")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0060346 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0060346 "DOID:0060346")
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AnnotationAssertion(oboInOwl:inSubset obo:DOID_0060346 doid:DO_rare_slim)
@@ -44901,6 +44902,18 @@ AnnotationAssertion(rdfs:label obo:DOID_0061192 "neonatal inflammatory skin and
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SubClassOf(obo:DOID_0061192 obo:DOID_0051000)
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SubClassOf(obo:DOID_0061192 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
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# Class: obo:DOID_0061193 (nephrotic syndrome type 26)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/35419533/") obo:IAO_0000115 obo:DOID_0061193 "A familial nephrotic syndrome characterized by onset of proteinuria in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutation in the LAMA5 gene on chromosome 20q13.")
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AnnotationAssertion(oboInOwl:created_by obo:DOID_0061193 "claudiasbj")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061193 "MIM:620049")
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AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0061193 "NPHS26")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061193 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0061193 "DOID:0061193")
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AnnotationAssertion(rdfs:label obo:DOID_0061193 "nephrotic syndrome type 26")
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SubClassOf(obo:DOID_0061193 obo:DOID_2590)
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SubClassOf(obo:DOID_0061193 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
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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.")
@@ -65207,8 +65220,8 @@ AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.n
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080991 "GARD:10316")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080991 "MIM:255320")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080991 "ORDO:598")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0080991 "multiminicore disease")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0080991 "autosomal recessive congenital myopathy 1B")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0080991 "multiminicore disease")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0080991 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0080991 "DOID:0080991")
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AnnotationAssertion(oboInOwl:inSubset obo:DOID_0080991 doid:DO_rare_slim)
@@ -85016,9 +85029,9 @@ SubClassOf(obo:DOID_0110926 ObjectSomeValuesFrom(obo:RO_0002452 obo:SYMP_0000094
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10508519") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/11333380") obo:IAO_0000115 obo:DOID_0110927 "A nemaline myopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42.")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0110927 "MIM:161800")
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AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0110927 "NEM3")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0110927 "autosomal dominant typical congenital myopathy 2A")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0110927 "congenital myopathy 2A")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0110927 "nemaline myopathy 3, autosomal dominant or recessive")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0110927 "autosomal dominant typical congenital myopathy 2A")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0110927 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0110927 "DOID:0110927")
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AnnotationAssertion(rdfs:label obo:DOID_0110927 "nemaline myopathy 3")
@@ -85083,8 +85096,8 @@ AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0110932 "MESH:C538351")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0110932 "MIM:609285")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0110932 "CAP myopathy 2")
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AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0110932 "NEM4")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0110932 "nemaline myopathy 4, autosomal dominant")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0110932 "congenital myopathy 23")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0110932 "nemaline myopathy 4, autosomal dominant")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0110932 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0110932 "DOID:0110932")
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AnnotationAssertion(rdfs:label obo:DOID_0110932 "nemaline myopathy 4")
@@ -85096,8 +85109,8 @@ SubClassOf(obo:DOID_0110932 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000014
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/28017374") obo:IAO_0000115 obo:DOID_0110933 "A nemaline myopathy characterized by onset of slowly progressive muscle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the MYPN gene on chromosome 10q21.")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0110933 "MIM:617336")
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AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0110933 "NEM11")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0110933 "nemaline myopathy 11, autosomal recessive")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0110933 "congenital myopathy 24")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0110933 "nemaline myopathy 11, autosomal recessive")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0110933 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0110933 "DOID:0110933")
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AnnotationAssertion(rdfs:label obo:DOID_0110933 "nemaline myopathy 11")
@@ -160407,9 +160420,9 @@ AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_3529 "NCI:C83010")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_3529 "ORDO:597")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_3529 "SNOMEDCT_US_2023_03_01:43152001")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_3529 "UMLS_CUI:C0751951")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_3529 "autosomal dominant congenital myopathy 1A")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_3529 "central core disease")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_3529 "central core myopathy")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_3529 "autosomal dominant congenital myopathy 1A")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_3529 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_3529 "DOID:3529")
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AnnotationAssertion(oboInOwl:inSubset obo:DOID_3529 doid:DO_rare_slim)

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