Terminology Service for NFDI4Health
autosomal recessive spinocerebellar ataxia 20
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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. [ ]
Term info
Label
autosomal recessive spinocerebellar ataxia 20
Synonyms
- SCAR20
- SNX14 autosomal recessive cerebellar ataxia
- autosomal recessive cerebellar ataxia caused by mutation in SNX14
- autosomal recessive spinocerebellar ataxia type 20
- intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome
- spinocerebellar ataxia, autosomal recessive type 20
Subsets
ordo_malformation_syndrome
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
has related synonym
intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome, spinocerebellar ataxia, autosomal recessive 20
id
MONDO:0014601
narrowMatch
https://icd.codes/icd10cm/Q87.8
Term relations
Subclass of:
- syndromic intellectual disability
- central nervous system malformation
- autosomal recessive cerebellar ataxia
- genetic multiple congenital anomalies/dysmorphic syndrome
- congenital nervous system disorder
- multiple congenital anomalies/dysmorphic syndrome-intellectual disability
- disease has major feature some central nervous system malformation