Summary Literature (0)

DOID:0060785 - adult-onset autosomal dominant demyelinating leukodystrophy

Disease Ontology 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.

Synonyms: ADLD, adult-onset autosomal dominant leukodystrophy, autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease,

Echinobase Genes :


OMIM:

MIM:169500 - leukodystrophy, demyelinating, adult-onset, autosomal dominant; adld

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee