Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death. [ Orphanet:58 ]

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:0005774 (MONDO:equivalentTo)
  • DOID:4252 (MONDO:equivalentTo)
  • NCIT:C84545 (MONDO:equivalentTo)
  • UMLS:C0270726 (Orphanet:58)
  • MESH:D038261 (Orphanet:58)
  • OMIM:203450 (Orphanet:58)
  • ICD10:E75.2 (Orphanet:58)
  • SCTID:81854007 (MONDO:equivalentTo)
  • Orphanet:58 (OMIM:203450)
Subsets

gard_rare, ordo_disease

abbreviation
ALXDRD [ https://omim.org/entry/203450 MONDO:Lexical ]

definition

Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death.

exactMatch

http://www.orpha.net/ORDO/Orphanet_58

http://linkedlifedata.com/resource/umls/id/C0270726

http://identifiers.org/mesh/D038261

http://identifiers.org/omim/203450

http://purl.obolibrary.org/obo/DOID_4252

http://purl.obolibrary.org/obo/NCIT_C84545

http://identifiers.org/snomedct/81854007

has exact synonym

Alexander disease

AxD

Alexander's disease

has related synonym

ALXDRD

megalencephaly in infancy accompanied by progressive spasticity and dementia

alexanders leukodystrophy

id

MONDO:0008752

seeAlso

https://rarediseases.info.nih.gov/diseases/5774/alexander-disease