Skip to content

Commit

Permalink
Add gene for neuronal ceroid lipofuscinosis, CLN3-related, pig (#8208)
Browse files Browse the repository at this point in the history
This gene relation was missing from OMIA, but OMIA just added it, so I am adding the gene to Mondo and updating the term label to remain consistent.

Addresses #7271
  • Loading branch information
katiermullen authored Sep 26, 2024
1 parent d7b9b26 commit 941a77c
Showing 1 changed file with 3 additions and 2 deletions.
5 changes: 3 additions & 2 deletions src/ontology/mondo-edit.obo
Original file line number Diff line number Diff line change
Expand Up @@ -569219,13 +569219,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/

[Term]
id: MONDO:1010903
name: neuronal ceroid lipofuscinosis 3, pig
def: "Any neuronal ceroid lipofuscinosis that occurs in pigs due to a mutation in the CNL3 gene created using gene editing." [OMIA:002432-9823]
name: neuronal ceroid lipofuscinosis, CLN3-related, pig
def: "Any neuronal ceroid lipofuscinosis that occurs in pigs due to a mutation in the CLN3 gene created using gene editing." [OMIA:002432-9823]
synonym: "CLN3" EXACT ABBREVIATION [OMIA:002432-9823]
synonym: "neuronal ceroid lipofuscinosis, 3, pig" RELATED [OMIA:002432-9823]
xref: OMIA:002432-9823 {source="MONDO:equivalentTo"}
is_a: MONDO:1011321 {source="OMIA:002432-9823", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal
is_a: MONDO:1011577 {source="OMIA:002432-9823", source="https://orcid.org/0000-0002-5002-8648"} ! neuronal ceroid lipofuscinosis, pig
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/100127354 {source="OMIA:002432-9823", source="https://orcid.org/0000-0002-5002-8648"}
relationship: in_taxon NCBITaxon:9823 {source="OMIA:002432-9823"} ! Sus scrofa
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI

Expand Down

0 comments on commit 941a77c

Please sign in to comment.