Add enhanced S-cone syndrome subtypes

Author: csbjohnson

src/ontology/doid-edit.owl

@@ -2273,6 +2273,8 @@ Declaration(Class(obo:DOID_0061227))
 Declaration(Class(obo:DOID_0061228))
 Declaration(Class(obo:DOID_0061229))
 Declaration(Class(obo:DOID_0061230))
+Declaration(Class(obo:DOID_0061231))
+Declaration(Class(obo:DOID_0061232))
 Declaration(Class(obo:DOID_0070000))
 Declaration(Class(obo:DOID_0070001))
 Declaration(Class(obo:DOID_0070002))
@@ -44760,6 +44762,26 @@ SubClassOf(obo:DOID_0061230 obo:DOID_4997)
 SubClassOf(obo:DOID_0061230 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
 SubClassOf(obo:DOID_0061230 ObjectSomeValuesFrom(obo:RO_0004019 obo:SO_0000704))
 
+# Class: obo:DOID_0061231 (enhanced S-cone syndrome 1)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007636) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/10655056/") obo:IAO_0000115 obo:DOID_0061231 "A retinal disease that is characterized by increased sensitivity to blue light; perception of blue light is mediated by what is normally the least populous cone photoreceptor subtype, the S (short wavelength, blue) cones and suffer visual loss, with night blindness occurring from early in life, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration that has_material_basis_in homozygous or compound heterozygous mutation in the nuclear receptor gene NR2E3 on chromosome 15q23.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061231 "MIM:268100")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061231 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0061231 "DOID:0061231")
+AnnotationAssertion(rdfs:label obo:DOID_0061231 "enhanced S-cone syndrome 1"@en)
+SubClassOf(obo:DOID_0061231 obo:DOID_0090059)
+SubClassOf(obo:DOID_0061231 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
+
+# Class: obo:DOID_0061232 (enhanced S-cone syndrome 2)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007636) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29385733/") obo:IAO_0000115 obo:DOID_0061232 "A retinal disease that is characterized by an increased number of cones in the retina, primarily those expressing S-cone opsins that has_material_basis_in compound heterozygous and homozygous mutation in the NRL gene on chromosome 14q11.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061232 "MIM:621371")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061232 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0061232 "DOID:0061232")
+AnnotationAssertion(rdfs:label obo:DOID_0061232 "enhanced S-cone syndrome 2"@en)
+SubClassOf(obo:DOID_0061232 obo:DOID_0090059)
+SubClassOf(obo:DOID_0061232 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
+
 # Class: obo:DOID_0070000 (3-methylglutaconic aciduria type 8)
 
 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.")
@@ -71319,9 +71341,9 @@ SubClassOf(obo:DOID_0090058 ObjectSomeValuesFrom(obo:RO_0002488 obo:HP_0003593))
 
 # Class: obo:DOID_0090059 (enhanced S-cone syndrome)
 
-AnnotationAssertion(Annotation(dc:type obo:ECO_0007636) Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30900587") Annotation(oboInOwl:hasDbXref "url:https://www.omim.org/entry/268100") obo:IAO_0000115 obo:DOID_0090059 "A retinal disease that is characterized by early onset night blindness, hypersensitivity to blue light, and in some cases a more general retinal degeneration that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear receptor subfamily 2 group E member 3 gene (NR2E3) on chromosome 15q23.")
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007636) Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/30900587") Annotation(oboInOwl:hasDbXref "url:https://www.omim.org/entry/268100") obo:IAO_0000115 obo:DOID_0090059 "A retinal disease that is characterized by early onset night blindness, hypersensitivity to blue light, and in some cases a more general retinal degeneration.")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0090059 "MESH:C564835")
-AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0090059 "MIM:268100")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0090059 "MIM:PS268100")
 AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0090059 "disease_ontology")
 AnnotationAssertion(oboInOwl:id obo:DOID_0090059 "DOID:0090059")
 AnnotationAssertion(rdfs:label obo:DOID_0090059 "enhanced S-cone syndrome")