Mondo Disease Ontology

Last uploaded: November 25, 2024

Preferred Name	autosomal recessive congenital cerebellar ataxia
Synonyms
ID	http://purl.obolibrary.org/obo/MONDO_0020043
database_cross_reference	UMLS:C5681519 MEDGEN:1843070 Orphanet:98095 GARD:19412
id	MONDO:0020043
in_subset	http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#disease_grouping http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#nord_rare
label	autosomal recessive congenital cerebellar ataxia
notation	MONDO:0020043
prefLabel	autosomal recessive congenital cerebellar ataxia
skos_exactMatch	http://linkedlifedata.com/resource/umls/id/C5681519 http://purl.obolibrary.org/obo/Orphanet_98095 http://identifiers.org/medgen/1843070
treeView	http://purl.obolibrary.org/obo/MONDO_0015244
subClassOf	http://purl.obolibrary.org/obo/MONDO_0015244

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0020043	CCONT	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0020043	EFO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0020043	DOVES	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0020043	KTAO	SAME_URI
http://www.orpha.net/ORDO/Orphanet_98095	ORDO	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_13113	HRDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0020043	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0020043	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0020043	DOVES	LOOM
http://purl.obolibrary.org/obo/MONDO_0020043	KTAO	LOOM