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DOID:0111155 - autosomal recessive spinocerebellar ataxia 21
Disease Ontology Definition:An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13.
Synonyms: acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, autosomal recessive spinocerebellar ataxia 21 with hepatopathy, SCAR21
Xenbase Genes
:
scyl1
| MONDO:0014744 - acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome |
| MIM:616719 - SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21; SCAR21 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s):
autosomal recessive cerebellar ataxia (is_a)