familial isolated deficiency of vitamin E

Go to external page http://purl.obolibrary.org/obo/MONDO_0010188


Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E. [ Orphanet:96 ]

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:0008595 (Orphanet-shared)
  • Orphanet:96 (OMIM:277460)
  • DOID:0090028 (MONDO:equivalentTo)
  • OMIM:277460 (Orphanet:96)
  • MESH:C535393 (Orphanet:96)
  • MedDRA:10047631 (Orphanet:96)
  • SCTID:702442008 (MONDO:equivalentTo)
  • ICD9:269.1 (i2s)
  • ICD10:G11.1 (Orphanet:96)
  • ICD9:334.3 (i2s)
Subsets

ordo_disease

abbreviation
AVED [ Orphanet:96 ]

definition

Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E.

exactMatch

http://identifiers.org/snomedct/702442008

http://linkedlifedata.com/resource/umls/id/C1848533

http://identifiers.org/meddra/10047631

http://purl.obolibrary.org/obo/DOID_0090028

http://www.orpha.net/ORDO/Orphanet_96

http://identifiers.org/omim/277460

http://identifiers.org/mesh/C535393

has exact synonym

ataxia with isolated vitamin E deficiency

familial isolated deficiency of vitamin type E

isolated vitamin E deficiency

AVED

Friedreich-like ataxia

familial isolated vitamin E deficiency

has related synonym

Friedreich-like ataxia with selective vitamin E deficiency

VED

ataxia, Friedreich-like, with selective vitamin E deficiency

vitamin E, familial isolated deficiency OF

ataxia with vitamin E deficiency

id

MONDO:0010188