OBO ID: DOID:0060785
Term Name: adult-onset autosomal dominant demyelinating leukodystrophy Search Ontology:
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
  • OMIM:169500
  • ORDO:99027
  • SNOMEDCT_US_2023_03_01:448054001
  • UMLS_CUI:C3164344
Ontology: Human Disease   ( DOID:0060785 )
OTHER adult-onset autosomal dominant demyelinating leukodystrophy PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
LMNB1 Leukodystrophy, adult-onset, autosomal dominant 169500
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)