Add desmosterolosis (DOID:0070654)

Closes #1523

Author: allenbaron

src/ontology/doid-edit.owl

@@ -2872,6 +2872,7 @@ Declaration(Class(obo:DOID_0070650))
 Declaration(Class(obo:DOID_0070651))
 Declaration(Class(obo:DOID_0070652))
 Declaration(Class(obo:DOID_0070653))
+Declaration(Class(obo:DOID_0070654))
 Declaration(Class(obo:DOID_0080000))
 Declaration(Class(obo:DOID_0080001))
 Declaration(Class(obo:DOID_0080005))
@@ -53626,6 +53627,30 @@ AnnotationAssertion(skos:broadMatch obo:DOID_0070653 "ORDO:528084")
 AnnotationAssertion(skos:exactMatch obo:DOID_0070653 "MIM:620511")
 SubClassOf(obo:DOID_0070653 obo:DOID_0050888)
 
+# Class: obo:DOID_0070654 (desmosterolosis)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pmc.ncbi.nlm.nih.gov/articles/PMC1226055/") Annotation(oboInOwl:hasDbXref "url:https://pmc.ncbi.nlm.nih.gov/articles/PMC4076431/") obo:IAO_0000115 obo:DOID_0070654 "A lipid metabolism disorder characterized by multiple congenital anomalies, developmental delay, intellectual disability, and elevated levels of the cholesterol precursor desmosterol that has_material_basis_in homozygous or compound heterozygous mutation in the DHCR24 gene on chromosome 1p32.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070654 "GARD:10283")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070654 "MESH:C566555")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070654 "MIM:602398")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070654 "ORDO:35107")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070654 "SNOMEDCT_US_2025_05_01:709490002")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070654 "UMLS_CUI:C1865596")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070654 "ICD10CM:Q87.89")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070654 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0070654 "DOID:0070654")
+AnnotationAssertion(rdfs:label obo:DOID_0070654 "desmosterolosis")
+AnnotationAssertion(skos:broadMatch obo:DOID_0070654 "ICD10CM:Q87.89")
+AnnotationAssertion(skos:exactMatch obo:DOID_0070654 "GARD:10283")
+AnnotationAssertion(skos:exactMatch obo:DOID_0070654 "MESH:C566555")
+AnnotationAssertion(skos:exactMatch obo:DOID_0070654 "UMLS_CUI:C1865596")
+AnnotationAssertion(skos:exactMatch obo:DOID_0070654 "MIM:602398")
+AnnotationAssertion(skos:exactMatch obo:DOID_0070654 "ORDO:35107")
+SubClassOf(obo:DOID_0070654 obo:DOID_0050888)
+SubClassOf(obo:DOID_0070654 obo:DOID_3146)
+SubClassOf(obo:DOID_0070654 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
+SubClassOf(obo:DOID_0070654 ObjectSomeValuesFrom(obo:RO_0002200 obo:HP_0034937))
+
 # 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.")

src/ontology/imports/hp_import.owl

@@ -9,8 +9,8 @@
      xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#"
      xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#">
     <owl:Ontology rdf:about="http://purl.obolibrary.org/obo/doid/imports/hp_import.owl">
-        <owl:versionIRI rdf:resource="http://purl.obolibrary.org/obo/doid/releases/2025-08-01/imports/hp_import.owl"/>
-        <rdfs:comment>Sourced from http://purl.obolibrary.org/obo/hp/releases/2025-05-06/hp.owl</rdfs:comment>
+        <owl:versionIRI rdf:resource="http://purl.obolibrary.org/obo/doid/imports/hp_import.owl"/>
+        <rdfs:comment>Sourced from http://purl.obolibrary.org/obo/hp/releases/2025-08-11/hp.owl</rdfs:comment>
     </owl:Ontology>
 
 
@@ -2298,6 +2298,16 @@
 
 
 
+    <!-- http://purl.obolibrary.org/obo/HP_0003107 -->
+
+    <owl:Class rdf:about="http://purl.obolibrary.org/obo/HP_0003107">
+        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/HP_0003119"/>
+        <oboInOwl:id>HP:0003107</oboInOwl:id>
+        <rdfs:label>Abnormal circulating cholesterol concentration</rdfs:label>
+    </owl:Class>
+    
+
+
     <!-- http://purl.obolibrary.org/obo/HP_0003110 -->
 
     <owl:Class rdf:about="http://purl.obolibrary.org/obo/HP_0003110">
@@ -2319,6 +2329,16 @@
 
 
 
+    <!-- http://purl.obolibrary.org/obo/HP_0003119 -->
+
+    <owl:Class rdf:about="http://purl.obolibrary.org/obo/HP_0003119">
+        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/HP_0430071"/>
+        <oboInOwl:id>HP:0003119</oboInOwl:id>
+        <rdfs:label>Abnormal circulating lipid concentration</rdfs:label>
+    </owl:Class>
+    
+
+
     <!-- http://purl.obolibrary.org/obo/HP_0003125 -->
 
     <owl:Class rdf:about="http://purl.obolibrary.org/obo/HP_0003125">
@@ -5054,6 +5074,15 @@
 
 
 
+    <!-- http://purl.obolibrary.org/obo/HP_0034937 -->
+
+    <owl:Class rdf:about="http://purl.obolibrary.org/obo/HP_0034937">
+        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/HP_0003107"/>
+        <rdfs:label>Elevated circulating desmosterol concentration</rdfs:label>
+    </owl:Class>
+    
+
+
     <!-- http://purl.obolibrary.org/obo/HP_0040064 -->
 
     <owl:Class rdf:about="http://purl.obolibrary.org/obo/HP_0040064">

src/ontology/imports/hp_terms.txt

@@ -240,3 +240,4 @@ HP:0031105	# Abnormal uterus morphology
 HP:0000142	# Abnormal vagina morphology
 HP:0000773	# Short ribs
 HP:0005257	# Thoracic hypoplasia
+HP:0034937	# Elevated circulating desmosterol concentration