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Added genetic disorder for #2109 #2145

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Nov 28, 2023
Merged

Added genetic disorder for #2109 #2145

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11 changes: 11 additions & 0 deletions src/ontology/efo-edit.owl
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Original file line number Diff line number Diff line change
Expand Up @@ -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))
Expand Down Expand Up @@ -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.")
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