JSON

familial isolated deficiency of vitamin E

Go to external page http://purl.obolibrary.org/obo/DOID_0090028

A vitamin metabolic disorder characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and marked deficiency in vitamin E that has_material_basis_in homozygous or compound heterozygous mutation in the TTPA gene on chromosome 8q12. [ url:https://www.ncbi.nlm.nih.gov/pubmed/2298915 http://purl.obolibrary.org/obo/ECO_0007645 url:https://www.ncbi.nlm.nih.gov/pubmed/7719340 ]

Synonyms: ataxia with isolated vitamin E deficiency familial isolated vitamin E deficiency

This is just here as a test because I lose it

Term information

database cross reference
  • NCI:C155996
  • ORDO:96
  • MIM:277460
  • MESH:C535393
  • SNOMEDCT_US_2023_03_01:702442008
  • UMLS_CUI:C1848533
Subsets

DO_rare_slim, NCIthesaurus

has obo namespace

disease_ontology

id

DOID:0090028