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

add gene and synonyms to SMA1 and SMA3 #7050

Merged
merged 1 commit into from
Dec 20, 2023
Merged

add gene and synonyms to SMA1 and SMA3 #7050

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
4 changes: 4 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 @@ -197893,6 +197893,7 @@ synonym: "SMA type I" EXACT [Orphanet:83330]
synonym: "SMA, infantile acute form" RELATED [OMIM:253300]
synonym: "SMA-I" EXACT [Orphanet:83330]
synonym: "SMA1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:253300, Orphanet:83330]
synonym: "SMNI" EXACT ABBREVIATION [https://orcid.org/0000-0001-9310-0163]
synonym: "spinal muscular atrophies of childhood" BROAD [DOID:0060160]
synonym: "spinal muscular atrophy 1" RELATED [GARD:0007883]
synonym: "spinal muscular atrophy, type I" RELATED [MONDO:Lexical, OMIM:253300]
Expand Down Expand Up @@ -197929,6 +197930,7 @@ is_a: MONDO:0019079 {source="Orphanet:83330"} ! proximal spinal muscular atrophy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11117 {source="MONDO:mim2gene_medgen"} ! SMN1
property_value: confidence "2.2" xsd:double
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6462" xsd:anyURI

[Term]
id: MONDO:0009670
Expand Down Expand Up @@ -198043,8 +198045,10 @@ xref: UMLS:C0152109 {source="GARD:0000198", source="MONDO:equivalentTo", source=
is_a: MONDO:0001516 {source="DOID:12376/inferred", source="MONDO:Redundant", source="NCIT:C118847"} ! spinal muscular atrophy
is_a: MONDO:0019079 {source="Orphanet:83419"} ! proximal spinal muscular atrophy
is_a: MONDO:0024237 {source="MONDO:indirect"} ! inherited neurodegenerative disorder
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11117 {source="OMIM:253400"} ! SMN1
property_value: confidence "2.2" xsd:double
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6462" xsd:anyURI

[Term]
id: MONDO:0009673
Expand Down
Loading