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revise synonym and label (#6857)
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- revise synonym for MONDO:0030073
- revise labels and syn for fatty acyl-CoA reductase 1 upregulation

close #6855
close #6854
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nicolevasilevsky authored Nov 9, 2023
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Showing 1 changed file with 5 additions and 5 deletions.
10 changes: 5 additions & 5 deletions src/ontology/mondo-edit.obo
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Expand Up @@ -420828,7 +420828,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/
[Term]
id: MONDO:0030073
name: Mitchell syndrome
synonym: "ACOX1 dysregulation" EXACT CLINGEN_PREFERRED [https://clinicalgenome.org/affiliation/40049/, PMID:32169171]
synonym: "ACOX1 upregulation" EXACT CLINGEN_PREFERRED [https://clinicalgenome.org/affiliation/40049/, PMID:37236006]
synonym: "MITCH" EXACT ABBREVIATION [OMIM:618960]
synonym: "Mitchell syndrome" EXACT [OMIM:618960]
xref: OMIM:618960 {source="MONDO:equivalentTo"}
Expand Down Expand Up @@ -450216,10 +450216,10 @@ consider: MONDO:0100259

[Term]
id: MONDO:0100230
name: fatty acyl-CoA reductase 1 dysregulation
def: "A disorder of plasmalogens biosynthesis, that is an autosomal dominant neurological disorder that results in uncontrolled synthesis of ether lipids." [https://www.clinicalgenome.org/affiliation/40049/, PMID:33239752]
synonym: "FAR1 dysregulation" EXACT [https://www.clinicalgenome.org/affiliation/40049/]
synonym: "fatty acyl-CoA reductase 1 dysregulation" EXACT CLINGEN_PREFERRED [https://www.clinicalgenome.org/affiliation/40049/]
name: fatty acyl-CoA reductase 1 upregulation
def: "A disorder of plasmalogens biosynthesis, that is an autosomal dominant neurological disorder that results in uncontrolled synthesis of ether lipids." [https://www.clinicalgenome.org/affiliation/40049/, PMID:37236006]
synonym: "FAR1 upregulation" EXACT [https://www.clinicalgenome.org/affiliation/40049/]
synonym: "fatty acyl-CoA reductase 1 upregulation" EXACT CLINGEN_PREFERRED [https://www.clinicalgenome.org/affiliation/40049/]
is_a: MONDO:0005071 {source="PMID:33239752", source="https://www.clinicalgenome.org/affiliation/40049/"} ! nervous system disorder
is_a: MONDO:0100275 {source="PMID:33239752", source="https://www.clinicalgenome.org/affiliation/40049/"} ! fatty acyl-CoA reductase defects
relationship: has_characteristic HP:0000006 {source="PMID:33239752", source="https://www.clinicalgenome.org/affiliation/40049/"} ! Autosomal dominant inheritance
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