Add autosomal recessive nonsyndromic deafness subtypes 117-124

Closes #1577

Author: allenbaron

src/ontology/doid-edit.owl

@@ -2962,6 +2962,14 @@ Declaration(Class(obo:DOID_0070665))
 Declaration(Class(obo:DOID_0070666))
 Declaration(Class(obo:DOID_0070667))
 Declaration(Class(obo:DOID_0070668))
+Declaration(Class(obo:DOID_0070669))
+Declaration(Class(obo:DOID_0070670))
+Declaration(Class(obo:DOID_0070671))
+Declaration(Class(obo:DOID_0070672))
+Declaration(Class(obo:DOID_0070673))
+Declaration(Class(obo:DOID_0070674))
+Declaration(Class(obo:DOID_0070675))
+Declaration(Class(obo:DOID_0070676))
 Declaration(Class(obo:DOID_0080000))
 Declaration(Class(obo:DOID_0080001))
 Declaration(Class(obo:DOID_0080005))
@@ -54310,6 +54318,110 @@ AnnotationAssertion(skos:exactMatch obo:DOID_0070668 "UMLS_CUI:C4748701")
 SubClassOf(obo:DOID_0070668 obo:DOID_0060307)
 SubClassOf(obo:DOID_0070668 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
 
+# Class: obo:DOID_0070669 (autosomal recessive nonsyndromic deafness 122)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pmc.ncbi.nlm.nih.gov/articles/PMC10807715/") obo:IAO_0000115 obo:DOID_0070669 "An autosomal recessive nonsyndromic deafness characterized by postnatal onset of sensorineural hearing loss, affecting high frequencies first and progressing to deficits in all frequencies, that results in deafness by the second or third decade and has_material_basis_in compound heterozygous mutation in the TMTC4 gene on chromosome 13q32.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070669 "MIM:620714")
+AnnotationAssertion(Annotation(oboInOwl:SynonymTypeProperty "acronym") oboInOwl:hasExactSynonym obo:DOID_0070669 "DFNB122")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070669 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0070669 "DOID:0070669")
+AnnotationAssertion(oboInOwl:inSubset obo:DOID_0070669 doid:DO_rare_slim)
+AnnotationAssertion(rdfs:label obo:DOID_0070669 "autosomal recessive nonsyndromic deafness 122")
+AnnotationAssertion(skos:exactMatch obo:DOID_0070669 "MIM:620714")
+SubClassOf(obo:DOID_0070669 obo:DOID_0050565)
+SubClassOf(obo:DOID_0070669 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
+
+# Class: obo:DOID_0070670 (autosomal recessive nonsyndromic deafness 123)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pmc.ncbi.nlm.nih.gov/articles/PMC10026253/") obo:IAO_0000115 obo:DOID_0070670 "An autosomal recessive nonsyndromic deafness characterized by bilateral severe to profound hearing impairment with onset as early as the first decade of life that has_material_basis_in homozygous mutation in the STX4 gene on chromosome 16p11.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070670 "MIM:620745")
+AnnotationAssertion(Annotation(oboInOwl:SynonymTypeProperty "acronym") oboInOwl:hasExactSynonym obo:DOID_0070670 "DFNB123")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070670 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0070670 "DOID:0070670")
+AnnotationAssertion(oboInOwl:inSubset obo:DOID_0070670 doid:DO_rare_slim)
+AnnotationAssertion(rdfs:label obo:DOID_0070670 "autosomal recessive nonsyndromic deafness 123")
+AnnotationAssertion(skos:exactMatch obo:DOID_0070670 "MIM:620745")
+SubClassOf(obo:DOID_0070670 obo:DOID_0050565)
+SubClassOf(obo:DOID_0070670 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
+
+# Class: obo:DOID_0070671 (autosomal recessive nonsyndromic deafness 117)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pmc.ncbi.nlm.nih.gov/articles/PMC8099798/") obo:IAO_0000115 obo:DOID_0070671 "An autosomal recessive nonsyndromic deafness characterized by bilateral moderate-to-profound sensorineural deafness with onset in early childhood that has_material_basis_in homozygous mutation in the CLRN2 gene on chromosome 4p15.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070671 "MIM:619174")
+AnnotationAssertion(Annotation(oboInOwl:SynonymTypeProperty "acronym") oboInOwl:hasExactSynonym obo:DOID_0070671 "DFNB117")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070671 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0070671 "DOID:0070671")
+AnnotationAssertion(oboInOwl:inSubset obo:DOID_0070671 doid:DO_rare_slim)
+AnnotationAssertion(rdfs:label obo:DOID_0070671 "autosomal recessive nonsyndromic deafness 117")
+AnnotationAssertion(skos:exactMatch obo:DOID_0070671 "MIM:619174")
+SubClassOf(obo:DOID_0070671 obo:DOID_0050565)
+SubClassOf(obo:DOID_0070671 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
+
+# Class: obo:DOID_0070672 (autosomal recessive nonsyndromic deafness 118)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pmc.ncbi.nlm.nih.gov/articles/PMC7410044/") obo:IAO_0000115 obo:DOID_0070672 "An autosomal recessive nonsyndromic deafness characterized by congenital profound sensorineural hearing loss and cochlear aplasia that has_material_basis_in homozygous 200-kb deletion of a region downstream of the GDF6 gene on chromosome 8q22 resulting in its misexpression.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070672 "MIM:619553")
+AnnotationAssertion(Annotation(oboInOwl:SynonymTypeProperty "acronym") oboInOwl:hasExactSynonym obo:DOID_0070672 "DFNB118")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070672 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0070672 "DOID:0070672")
+AnnotationAssertion(oboInOwl:inSubset obo:DOID_0070672 doid:DO_rare_slim)
+AnnotationAssertion(rdfs:label obo:DOID_0070672 "autosomal recessive nonsyndromic deafness 118")
+AnnotationAssertion(skos:exactMatch obo:DOID_0070672 "MIM:619553")
+SubClassOf(obo:DOID_0070672 obo:DOID_0050565)
+SubClassOf(obo:DOID_0070672 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
+
+# Class: obo:DOID_0070673 (autosomal recessive nonsyndromic deafness 119)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pmc.ncbi.nlm.nih.gov/articles/PMC8546233/") obo:IAO_0000115 obo:DOID_0070673 "An autosomal recessive nonsyndromic deafness characterized by mild to profound sensorineural hearing loss that has_material_basis_in compound heterozygous mutation in the AFG2B gene on chromosome 15q21.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070673 "MIM:619615")
+AnnotationAssertion(Annotation(oboInOwl:SynonymTypeProperty "acronym") oboInOwl:hasExactSynonym obo:DOID_0070673 "DFNB119")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070673 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0070673 "DOID:0070673")
+AnnotationAssertion(oboInOwl:inSubset obo:DOID_0070673 doid:DO_rare_slim)
+AnnotationAssertion(rdfs:label obo:DOID_0070673 "autosomal recessive nonsyndromic deafness 119")
+AnnotationAssertion(skos:exactMatch obo:DOID_0070673 "MIM:619615")
+SubClassOf(obo:DOID_0070673 obo:DOID_0050565)
+SubClassOf(obo:DOID_0070673 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
+
+# Class: obo:DOID_0070674 (autosomal recessive nonsyndromic deafness 120)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pmc.ncbi.nlm.nih.gov/articles/PMC9245706/") obo:IAO_0000115 obo:DOID_0070674 "An autosomal recessive nonsyndromic deafness characterized by congenital or prelingual onset of severe to profound sensorineural hearing loss that has_material_basis_in homozygous mutation in the MINAR2 gene on chromosome 5q23.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070674 "MIM:620238")
+AnnotationAssertion(Annotation(oboInOwl:SynonymTypeProperty "acronym") oboInOwl:hasExactSynonym obo:DOID_0070674 "DFNB120")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070674 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0070674 "DOID:0070674")
+AnnotationAssertion(oboInOwl:inSubset obo:DOID_0070674 doid:DO_rare_slim)
+AnnotationAssertion(rdfs:label obo:DOID_0070674 "autosomal recessive nonsyndromic deafness 120")
+AnnotationAssertion(skos:exactMatch obo:DOID_0070674 "MIM:620238")
+SubClassOf(obo:DOID_0070674 obo:DOID_0050565)
+SubClassOf(obo:DOID_0070674 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
+
+# Class: obo:DOID_0070675 (autosomal recessive nonsyndromic deafness 121)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pmc.ncbi.nlm.nih.gov/articles/PMC10562426/") obo:IAO_0000115 obo:DOID_0070675 "An autosomal recessive nonsyndromic deafness characterized by congenital or prelingual moderate sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the GPR156 gene on chromosome 3q13.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070675 "MIM:620551")
+AnnotationAssertion(Annotation(oboInOwl:SynonymTypeProperty "acronym") oboInOwl:hasExactSynonym obo:DOID_0070675 "DFNB121")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070675 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0070675 "DOID:0070675")
+AnnotationAssertion(oboInOwl:inSubset obo:DOID_0070675 doid:DO_rare_slim)
+AnnotationAssertion(rdfs:label obo:DOID_0070675 "autosomal recessive nonsyndromic deafness 121")
+AnnotationAssertion(skos:exactMatch obo:DOID_0070675 "MIM:620551")
+SubClassOf(obo:DOID_0070675 obo:DOID_0050565)
+SubClassOf(obo:DOID_0070675 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
+
+# Class: obo:DOID_0070676 (autosomal recessive nonsyndromic deafness 124)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pmc.ncbi.nlm.nih.gov/articles/PMC11043200/") obo:IAO_0000115 obo:DOID_0070676 "An autosomal recessive nonsyndromic deafness characterized by congenital progressive sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the PKHD1L1 gene on chromosome 8q23.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070676 "MIM:620794")
+AnnotationAssertion(Annotation(oboInOwl:SynonymTypeProperty "acronym") oboInOwl:hasExactSynonym obo:DOID_0070676 "DFNB124")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070676 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0070676 "DOID:0070676")
+AnnotationAssertion(oboInOwl:inSubset obo:DOID_0070676 doid:DO_rare_slim)
+AnnotationAssertion(rdfs:label obo:DOID_0070676 "autosomal recessive nonsyndromic deafness 124")
+AnnotationAssertion(skos:exactMatch obo:DOID_0070676 "MIM:620794")
+SubClassOf(obo:DOID_0070676 obo:DOID_0050565)
+SubClassOf(obo:DOID_0070676 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
+
 # Class: obo:DOID_0080000 (muscular disease)
 
 AnnotationAssertion(Annotation(dc:type obo:ECO_0007644) Annotation(oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/muscledisorders.html") obo:IAO_0000115 obo:DOID_0080000 "A musculoskeletal system disease that affects the muscles.")