Ataxia with vitamin e deficiency

Preferred Label : Ataxia with vitamin e deficiency;

Symbol : AVED;

CISMeF acronym : AVED; VED;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Friedreich-like ataxia; VED; Ataxia, friedreich-like, with selective vitamin e deficiency; Vitamin e deficiency, familial isolated;

Inheritance : Autosomal recessive;

Prefixed ID : #277460;

Details

Origin ID

277460;

UMLS CUI

C1848533;

Currated CISMeF NLP mapping
- Ataxia with Isolated Vitamin E Deficiency [NCIt concept]
- Ataxia with vitamin E deficiency [MeSH concept]
- Ataxia with vitamin E deficiency [ORDO Disease]
- Ataxia with vitamin E deficiency (disorder) [SNOMED CT concept]
- Friedreich-like ataxia with selective vitamin E deficiency [ICD-11 More detail]
- ataxia with vitamin E deficiency [Disease (Nov.)]
- ataxia with vitamin E deficiency [MeSH Supplementary Concept]
- familial isolated deficiency of vitamin E [DO Concept]
DO Cross reference
- familial isolated deficiency of vitamin E [DO Concept]
Genes related to phenotype
- Tocopherol transfer protein, alpha [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Hypercholesterolemia [HPO term]
- Hypertriglyceridemia [HPO term]
- Increased LDL cholesterol concentration [HPO term]
- Low levels of vitamin E [HPO term]
- Tendon xanthomatosis [HPO term]
- Xanthelasma [HPO term]
ORDO concept(s)
- Ataxia with vitamin E deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ataxia with Isolated Vitamin E Deficiency [NCIt concept]
- Ataxia with vitamin E deficiency [ORDO Disease]
- Ataxia with vitamin E deficiency [MeSH concept]
- Ataxia with vitamin E deficiency [MedDRA Preferred Term]
- Ataxia with vitamin E deficiency (disorder) [SNOMED CT concept]
- Friedreich-like ataxia with selective vitamin E deficiency [ICD-11 More detail]
- ataxia with vitamin E deficiency [MeSH Supplementary Concept]
- ataxia with vitamin E deficiency [Disease (Nov.)]
- familial isolated deficiency of vitamin E [DO Concept]

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