Skip to content
New issue

Have a question about this project? Sign up for a free GitHub account to open an issue and contact its maintainers and the community.

Sign up for GitHub

By clicking “Sign up for GitHub”, you agree to our terms of service and privacy statement. We’ll occasionally send you account related emails.

Already on GitHub? Sign in to your account

Jump to bottom

synonym for Krabbe disease #8404

Merged
merged 1 commit into from
Nov 15, 2024
Merged

synonym for Krabbe disease #8404

Changes from all commits
Commits
Show all changes
1 commit
Select commit
File filter

Filter by extension

Filter by extension
Conversations
Failed to load comments.
Loading
Jump to
Jump to file
Failed to load files.
Loading
Diff view
Diff view
2 changes: 2 additions & 0 deletions src/ontology/mondo-edit.obo
View file
Open in desktop
Original file line number Diff line number Diff line change
Expand Up @@ -204314,6 +204314,7 @@ synonym: "galactosylceramidase deficiency" EXACT [Orphanet:487]
synonym: "galactosylceramide Beta-galactosidase deficiency" RELATED [OMIM:245200]
synonym: "galactosylceramide lipidosis" EXACT [NCIT:C61254]
synonym: "GALC deficiency" EXACT [Orphanet:487]
synonym: "GALC enzyme deficiency" EXACT [PMID:32965986]
synonym: "GLD" RELATED ABBREVIATION [GARD:0006844]
synonym: "globoid cell leukodystrophy" EXACT [DOID:10587, OMIM:245200, Orphanet:487, PMID:14572137]
synonym: "globoid cell leukoencephalopathy" EXACT [DOID:10587, OMIM:245200]
Expand Down Expand Up @@ -204350,6 +204351,7 @@ relationship: curated_content_resource https://search.clinicalgenome.org/kb/cond
relationship: disease_has_basis_in_accumulation_of CHEBI:16874 {source="PMID:14572137"} ! psychosine
relationship: disease_has_basis_in_disruption_of GO:0004336 {source="PMID:14572137", source="https://www.researchgate.net/figure/Pathogenic-cascade-of-Krabbe-disease-Adapted-from-Suzuki-2003-NOTE-Appearance-of_fig1_251856987"} ! galactosylceramidase activity
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4115 {source="MONDO:mim2gene_medgen"} ! GALC
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8028" xsd:anyURI

[Term]
id: MONDO:0009500
Expand Down
Loading