CALFAN Syndrome

Preferred Label : CALFAN Syndrome;

NCIt synonyms : Cholestasis, Acute Liver Failure, and Neurodegeneration;

NCIt definition : A condition caused by biallelic mutation(s) in the SCYL1 gene, encoding N-terminal kinase-like protein. It is characterized by peripheral neuropathy, cerebellar atrophy, ataxia, and recurrent episodes of liver failure.;

NCI Metathesaurus CUI : CL951540;

Details

Origin ID

C159655;

UMLS CUI

C5204605;

Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- SCYL1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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