loading...| Preferred Name |
DEMENTIA, LEWY BODY |
|
| Synonyms |
DIFFUSE LEWY BODY DISEASE |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/127750 |
|
| altLabel |
DIFFUSE LEWY BODY DISEASE LEWY BODY VARIANT OF ALZHEIMER DISEASE LEWY BODY DEMENTIA DIFFUSE LEWY BODY DISEASE WITH GAZE PALSY DLB |
|
| cui |
C1851957 C0752347 C1851958 |
|
| Gene Locus |
1q21 |
|
| Gene Symbol |
GBA |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU018542 http://purl.bioontology.org/ontology/OMIM/MTHU018544 http://purl.bioontology.org/ontology/OMIM/MTHU004025 http://purl.bioontology.org/ontology/OMIM/MTHU036687 http://purl.bioontology.org/ontology/OMIM/MTHU000764 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
127750 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
DEMENTIA, LEWY BODY |
|
| 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] |
|
| tui |
T047 |