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add definition to spastic paraplegia 82, autosomal recessive (#7557)
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* add definition to spastic paraplegia 82, autosomal recessive

close #7469

* add github url
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nicolevasilevsky committed Apr 6, 2024
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Showing 1 changed file with 3 additions and 1 deletion.
4 changes: 3 additions & 1 deletion src/ontology/mondo-edit.obo
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Expand Up @@ -483907,17 +483907,19 @@ is_a: MONDO:0019064 {source="OMIM:618768"} ! hereditary spastic paraplegia
[Term]
id: MONDO:0032906
name: spastic paraplegia 82, autosomal recessive
def: "Any hereditary spastic paraplegia in which the cause of the disease is an autosomal recessive mutation in the PCYT2 gene." [MONDO:patterns/hereditary, PMID:31637422]
subset: orphanet_rare {source="Orphanet:631073"}
subset: rare
synonym: "autosomal recessive spastic paraplegia type 82" EXACT [MONDO:0858987]
synonym: "SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE" EXACT [OMIM:618770]
synonym: "spastic paraplegia 82, autosomal recessive" EXACT [OMIM:618770]
synonym: "SPG82" EXACT ABBREVIATION [OMIM:618770]
xref: DOID:0112343 {source="MONDO:equivalentTo"}
xref: OMIM:618770 {source="MONDO:equivalentTo"}
xref: Orphanet:631073 {source="MONDO:equivalentTo"}
is_a: MONDO:0003847 {source="OMIM:618770"} ! hereditary disease
is_a: MONDO:0019064 {source="OMIM:618770"} ! hereditary spastic paraplegia
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6356" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7469" xsd:anyURI

[Term]
id: MONDO:0032907
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