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Disease Ontology Browser
adult-onset autosomal dominant demyelinating leukodystrophy (DOID:0060785)
Alliance: disease page
Synonyms: ADLD; adult-onset autosomal dominant leukodystrophy; autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease
Alt IDs: OMIM:169500, ORDO:99027, UMLS_CUI:C3164344
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.

Disease References using Mouse Models (2)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/19/2024
MGI 6.24 		The Jackson Laboratory