Add hereditary congenital ptosis subtypes

Author: csbjohnson

src/ontology/doid-edit.owl

@@ -2178,6 +2178,8 @@ Declaration(Class(obo:DOID_0061144))
 Declaration(Class(obo:DOID_0061145))
 Declaration(Class(obo:DOID_0061146))
 Declaration(Class(obo:DOID_0061147))
+Declaration(Class(obo:DOID_0061148))
+Declaration(Class(obo:DOID_0061149))
 Declaration(Class(obo:DOID_0070000))
 Declaration(Class(obo:DOID_0070001))
 Declaration(Class(obo:DOID_0070002))
@@ -14482,7 +14484,7 @@ AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:http://purl.obolibrary.or
 AnnotationAssertion(rdfs:isDefinedBy obo:IAO_0000119 obo:iao.owl)
 AnnotationAssertion(rdfs:label obo:IAO_0000119 "definition source")
 
-# Annotation Property: obo:IAO_0000700 (has ontology root term)
+# Annotation Property: obo:IAO_0000700 (has_ontology_root_term)
 
 AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:http://purl.obolibrary.org/obo/IAO_0000700") obo:IAO_0000115 obo:IAO_0000700 "Has ontology root term.")
 AnnotationAssertion(rdfs:label obo:IAO_0000700 "has_ontology_root_term")
@@ -32343,23 +32345,22 @@ AnnotationAssertion(rdfs:comment obo:DOID_0060260 "NT MGI add.")
 AnnotationAssertion(rdfs:label obo:DOID_0060260 "ptosis")
 SubClassOf(obo:DOID_0060260 obo:DOID_5614)
 
-# Class: obo:DOID_0060261 (congenital ptosis)
+# Class: obo:DOID_0060261 (hereditary congenital ptosis)
 
-AnnotationAssertion(Annotation(dc:type obo:ECO_0007637) Annotation(dc:type obo:ECO_0007638) Annotation(oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Ptosis_%28eyelid%29") Annotation(oboInOwl:hasDbXref "url:https://eyewiki.aao.org/Ptosis,_Congenital") obo:IAO_0000115 obo:DOID_0060261 "A ptosis characterized by eyelid drop present at birth.")
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007637) Annotation(dc:type obo:ECO_0007638) Annotation(oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Ptosis_%28eyelid%29") Annotation(oboInOwl:hasDbXref "url:https://eyewiki.aao.org/Ptosis,_Congenital") obo:IAO_0000115 obo:DOID_0060261 "A ptosis characterized by superior eyelid drop present at birth.")
 AnnotationAssertion(oboInOwl:created_by obo:DOID_0060261 "emitraka")
 AnnotationAssertion(oboInOwl:creation_date obo:DOID_0060261 "2015-01-30T16:53:38Z")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060261 "ICD10CM:Q10.0")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060261 "ICD9CM:743.61")
-AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060261 "MIM:178300")
-AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060261 "MIM:300245")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060261 "NCI:C27049")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060261 "SNOMEDCT_US_2023_03_01:204197004")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060261 "UMLS_CUI:C0266573")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060261 "ORDO:91411")
 AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0060261 "disease_ontology")
 AnnotationAssertion(oboInOwl:id obo:DOID_0060261 "DOID:0060261")
 AnnotationAssertion(oboInOwl:inSubset obo:DOID_0060261 doid:NCIthesaurus)
 AnnotationAssertion(rdfs:comment obo:DOID_0060261 "NT MGI.")
-AnnotationAssertion(rdfs:label obo:DOID_0060261 "congenital ptosis")
+AnnotationAssertion(rdfs:label obo:DOID_0060261 "hereditary congenital ptosis")
 SubClassOf(obo:DOID_0060261 obo:DOID_0060260)
 SubClassOf(obo:DOID_0060261 ObjectSomeValuesFrom(obo:RO_0004019 obo:HP_0001197))
 
@@ -44231,6 +44232,30 @@ SubClassOf(obo:DOID_0061147 obo:DOID_0060307)
 SubClassOf(obo:DOID_0061147 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
 SubClassOf(obo:DOID_0061147 ObjectSomeValuesFrom(obo:RO_0004019 obo:SYMP_0000462))
 
+# Class: obo:DOID_0061148 (hereditary congenital ptosis 2)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/10739771/") obo:IAO_0000115 obo:DOID_0061148 "A hereditary congenital ptosis that has_material_basis_in linkage to the X chromosome.")
+AnnotationAssertion(oboInOwl:created_by obo:DOID_0061148 "claudiasbj")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061148 "MIM:300245")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061148 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0061148 "DOID:0061148")
+AnnotationAssertion(rdfs:label obo:DOID_0061148 "hereditary congenital ptosis 2")
+SubClassOf(obo:DOID_0061148 obo:DOID_0060261)
+SubClassOf(obo:DOID_0061148 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000149))
+SubClassOf(obo:DOID_0061148 ObjectSomeValuesFrom(obo:RO_0004019 obo:HP_0001197))
+
+# Class: obo:DOID_0061149 (hereditary congenital ptosis 1)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/5057864/") obo:IAO_0000115 obo:DOID_0061149 "A hereditary congenital ptosis that has_material_basis_in autosomal dominant inheritance.")
+AnnotationAssertion(oboInOwl:created_by obo:DOID_0061149 "claudiasbj")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061149 "MIM:178300")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061149 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0061149 "DOID:0061149")
+AnnotationAssertion(rdfs:label obo:DOID_0061149 "hereditary congenital ptosis 1")
+SubClassOf(obo:DOID_0061149 obo:DOID_0060261)
+SubClassOf(obo:DOID_0061149 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
+SubClassOf(obo:DOID_0061149 ObjectSomeValuesFrom(obo:RO_0004019 obo:HP_0001197))
+
 # 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.")