diff --git a/src/ontology/efo-edit.owl b/src/ontology/efo-edit.owl index 3a75a96c..ce11ba63 100644 --- 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.")