Preferred Name |
Alexander disease |
|
Synonyms |
Alexander's disease AxD Alexander disease alexanders leukodystrophy megalencephaly in infancy accompanied by progressive spasticity and dementia ALXDRD |
|
Definitions |
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. |
|
ID |
http://purl.obolibrary.org/obo/MONDO_0008752 |
|
database_cross_reference |
OMIM:203450 DOID:4252 MESH:D038261 NORD:749 GARD:5774 Orphanet:58 SCTID:81854007 UMLS:C0270726 NCIT:C84545 |
|
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://purl.obolibrary.org/obo/NCIT_C84545 http://identifiers.org/snomedct/81854007 http://purl.obolibrary.org/obo/Orphanet_58 http://identifiers.org/mesh/D038261 |
|
has_exact_synonym |
Alexander's disease AxD Alexander disease |
|
has_related_synonym |
alexanders leukodystrophy megalencephaly in infancy accompanied by progressive spasticity and dementia ALXDRD |
|
id |
MONDO:0008752 |
|
in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_disease http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare |
|
label |
Alexander disease |
|
notation |
MONDO:0008752 |
|
prefLabel |
Alexander disease |
|
see also |
https://rarediseases.info.nih.gov/diseases/5774/alexander-disease |
|
subClassOf |