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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/127750
http://purl.bioontology.org/ontology/OMIM/127750
|
|---|---|
| Preferred Name | DEMENTIA, LEWY BODY |
| Synonyms |
DIFFUSE LEWY BODY DISEASE
LEWY BODY VARIANT OF ALZHEIMER DISEASE
LEWY BODY DEMENTIA
DIFFUSE LEWY BODY DISEASE WITH GAZE PALSY
DLB
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
DIFFUSE LEWY BODY DISEASE
LEWY BODY VARIANT OF ALZHEIMER DISEASE
LEWY BODY DEMENTIA
DIFFUSE LEWY BODY DISEASE WITH GAZE PALSY
DLB
|
|---|---|
| prefLabel | DEMENTIA, LEWY BODY
|
| Gene Symbol | GBA1
|
| Scope Statement | Caused by mutation in the beta-synuclein gene (SNCB, 602569.0001) [MOLECULAR BASIS]
Allelic disorder to Parkinson disease-1 (PARK1, 168601) [MISCELLANEOUS]
Onset in the sixth or seventh decades [MISCELLANEOUS]
Phenotypic overlap with Parkinson disease [MISCELLANEOUS]
Caused by mutation in the alpha-synuclein gene (SNCA, 163890.0004) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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| tui | T047
|
| Gene Locus | 1q21
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 127750
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C1851957
C0752347
C1851958
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |