| Metadata | |
|---|---|
| ID | DOID:0090028 |
| Name | familial isolated deficiency of vitamin E |
| Definition | 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. https://www.ncbi.nlm.nih.gov/pubmed/2298915, https://www.ncbi.nlm.nih.gov/pubmed/7719340 |
| Xrefs |
SNOMEDCT_US_2023_03_01:702442008 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
ataxia with isolated vitamin E deficiency [EXACT] familial isolated vitamin E deficiency [EXACT] |
| Parent Relationships |