Alexander disease
http://purl.obolibrary.org/obo/MONDO_0008752
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 ]
Term info
- UMLS:C0270726 (Orphanet:58/e)
- MESH:D038261 (Orphanet:58/e)
- DOID:4252 (MONDO:equivalentTo)
- GARD:0005774 (MONDO:equivalentTo)
- OMIM:203450 (Orphanet:58/e)
- NCIT:C84545 (MONDO:equivalentTo)
- Orphanet:58 (OMIM:203450)
- SCTID:81854007 (MONDO:equivalentTo)
gard_rare, ordo_disease
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.
https://omim.org/entry/203450, http://linkedlifedata.com/resource/umls/id/C0270726, http://identifiers.org/mesh/D038261, http://purl.obolibrary.org/obo/DOID_4252, http://purl.obolibrary.org/obo/NCIT_C84545, http://purl.obolibrary.org/obo/Orphanet_58, http://identifiers.org/snomedct/81854007
Alexander disease, Alexander's disease, AxD
ALXDRD, megalencephaly in infancy accompanied by progressive spasticity and dementia, alexanders leukodystrophy
MONDO:0008752
https://rarediseases.info.nih.gov/diseases/5774/alexander-disease