Added genetic disorder for #2109

EBISPOT · Nov 28, 2023 · a2b56d9 · a2b56d9
1 parent 77414b3
commit a2b56d9
Showing 1 changed file with 11 additions and 0 deletions.
diff --git a/src/ontology/efo-edit.owl b/src/ontology/efo-edit.owl
@@ -16779,6 +16779,7 @@ Declaration(Class(efo:EFO_0022485))
 Declaration(Class(efo:EFO_0022486))
 Declaration(Class(efo:EFO_0022487))
 Declaration(Class(efo:EFO_0022488))
+Declaration(Class(efo:EFO_0022489))
 Declaration(Class(efo:EFO_0030000))
 Declaration(Class(efo:EFO_0030001))
 Declaration(Class(efo:EFO_0030002))
@@ -202161,6 +202162,16 @@ AnnotationAssertion(dc:date efo:EFO_0022488 "2023-11-28T13:49:20Z"^^xsd:dateTime
 AnnotationAssertion(rdfs:label efo:EFO_0022488 "Smart-seq3"@en)
 SubClassOf(efo:EFO_0022488 efo:EFO_0010184)
 
+# Class: efo:EFO_0022489 (chitotriosidase deficiency)
+
+AnnotationAssertion(Annotation(efo:definition_citation "PMID:9748235") obo:IAO_0000115 efo:EFO_0022489 "The chitotriosidase gene is assigned to chromosome 1q31-q32. The gene consists of 12 exons and spans about 20 kilobases. The nature of the common deficiency in chitotriosidase activity is reported. A 24-base pair duplication in exon 10 results in activation of a cryptic 3' splice site, generating a mRNA with an in-frame deletion of 87 nucleotides. All chitotriosidase-deficient individuals tested were homozygous for the duplication. The observed carrier frequency of about 35% indicates that the duplication is the predominant cause of chitotriosidase deficiency. The presence of the duplication in individuals from various ethnic groups suggests that this mutation is relatively old.")
+AnnotationAssertion(dc:creator efo:EFO_0022489 "Zoe May Pendlington")
+AnnotationAssertion(dc:date efo:EFO_0022489 "2023-11-28T16:16:47Z"^^xsd:dateTime)
+AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0022489 "OMIM:614122")
+AnnotationAssertion(oboInOwl:hasExactSynonym efo:EFO_0022489 "CHITD")
+AnnotationAssertion(rdfs:label efo:EFO_0022489 "chitotriosidase deficiency"@en)
+SubClassOf(efo:EFO_0022489 efo:EFO_0000508)
+
 # Class: efo:EFO_0030000 (STARmap)
 
 AnnotationAssertion(Annotation(oboInOwl:hasDbXref "PMID:29930089") Annotation(oboInOwl:hasDbXref "https://orcid.org/0000-0002-3090-9894") obo:IAO_0000115 efo:EFO_0030000 "STARmap is an image-based technology for 3D intact-tissue RNA sequencing, which integrates hydrogel-tissue chemistry, targeted signal amplification, and in situ sequencing.")