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General Information
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| Term |
typical adult-onset autosomal dominant demyelinating leukodystrophy |
ID (Ontology) |
DOID:0060785 (Human Disease) |
| Definition |
An adult onset demyelinating leukodystrophy characterized by autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS, presenting in the fourth or fifth decade of life, and that has_material_basis_in a heterozygous tandem genomic duplication on chromosome 5q23 that results in an extra copy of the lamin B1 gene (LMNB1), but also alters regulatory sequences that affect expression of other genes. |
| Also Known As |
"ADLD" ; "adult-onset autosomal dominant leukodystrophy" ; "autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease" |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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| Data Class | Field | Records |
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| Human Disease Models (FBhh) | DOID | 1 |
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes | Human Disease Models |
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typical adult-onset autosomal dominant demyelinating leukodystrophy | 1 | 1 |
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Relationships