Search Ontology:
Human Disease

adult-onset autosomal dominant demyelinating leukodystrophy

Term ID
DOID:0060785
Synonyms
  • ADLD
  • adult-onset autosomal dominant leukodystrophy
  • autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease
Definition
A leukodystrophy characterized by onset in the 4th or 5th decade of life of autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS that has_material_basis_in heterozygous tandem genomic duplication resulting in an extra copy of the LMNB1 gene on chromosome 5q. (2)
References
  • GARD:10587
  • MIM:169500
  • ORDO:99027
  • SNOMEDCT_US_2023_03_01:448054001
  • UMLS_CUI:C3164344
Ontology
Human Disease   ( DOID:0060785 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models