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autosomal recessive spinocerebellar ataxia 20

^ http://purl.obolibrary.org/obo/MONDO_0014601

Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the SNX14 gene. [ MONDO:patterns/disease_series_by_gene ]

Term info

database cross reference
  • Orphanet:397709 (OMIM:616354)
  • DOID:0080066 (MONDO:equivalentTo)
  • OMIM:616354 (Orphanet:397709/e)
  • UMLS:C4225355 (MONDO:ncbi_mim2gene_medline)
Subsets

ordo_malformation_syndrome

abbreviation
SCAR20 [ Orphanet:397709 OMIM:616354 MONDO:Lexical ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5588

definition

Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the SNX14 gene.

exactMatch

http://purl.obolibrary.org/obo/DOID_0080066, http://linkedlifedata.com/resource/umls/id/C4225355, http://purl.obolibrary.org/obo/Orphanet_397709, https://omim.org/entry/616354

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0000508

has exact synonym

intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome, spinocerebellar ataxia, autosomal recessive type 20, autosomal recessive spinocerebellar ataxia type 20, autosomal recessive cerebellar ataxia caused by mutation in SNX14, SNX14 autosomal recessive cerebellar ataxia, SCAR20

has related synonym

intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome, spinocerebellar ataxia, autosomal recessive 20

id

MONDO:0014601