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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/621061
http://purl.bioontology.org/ontology/OMIM/621061
|
|---|---|
| Preferred Name | LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET, AUTOSOMAL DOMINANT, ATYPICAL |
| Synonyms |
ADLDAT
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | ADLDAT
|
|---|---|
| prefLabel | LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET, AUTOSOMAL DOMINANT, ATYPICAL
|
| Gene Symbol | ADLDAT
|
| Scope Statement | Slowly progressive [MISCELLANEOUS]
Adult-onset [MISCELLANEOUS]
Caused by a deletion on chromosome 5q23 upstream of the LMNB1 (150340) gene [MOLECULAR BASIS]
Patients usually do not present with autonomic symptoms [MISCELLANEOUS]
Worsening of neurologic deficit with infection or environmental heat (in some patients) [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 5q23.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 621061
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5975581
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |