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Disease Ontology Browser
adult-onset autosomal dominant demyelinating leukodystrophy (DOID:0060785)
Synonyms: ADLD; adult-onset autosomal dominant leukodystrophy; autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease
Alt IDs: OMIM:169500, ICD10CM:E75.2, 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 Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/11/2017
MGI 6.10
The Jackson Laboratory