Search Ontology:
Human Disease
adult-onset autosomal dominant demyelinating leukodystrophy
- Term ID
- DOID:0060785
- Synonyms
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- 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
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- GARD:10587
- MIM:169500
- ORDO:99027
- SNOMEDCT_US_2023_03_01:448054001
- UMLS_CUI:C3164344
- Ontology
- Human Disease ( DOID:0060785 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models