loading...| Preferred Name |
PARKINSON DISEASE 4, AUTOSOMAL DOMINANT |
| Synonyms |
PARKINSON DISEASE 4, AUTOSOMAL DOMINANT LEWY BODY |
| ID |
http://purl.bioontology.org/ontology/OMIM/605543 |
| altLabel |
PARKINSON DISEASE 4, AUTOSOMAL DOMINANT LEWY BODY PARK4 |
| cui |
C1854182 |
| Gene Locus |
4q21 |
| Gene Symbol |
SNCA NACP PARK1 PARK4 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU037191 http://purl.bioontology.org/ontology/OMIM/MTHU000764 http://purl.bioontology.org/ontology/OMIM/MTHU004418 http://purl.bioontology.org/ontology/OMIM/MTHU008082 http://purl.bioontology.org/ontology/OMIM/MTHU036401 http://purl.bioontology.org/ontology/OMIM/MTHU004417 http://purl.bioontology.org/ontology/OMIM/MTHU022329 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
605543 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
PARKINSON DISEASE 4, AUTOSOMAL DOMINANT |
| Scope Statement |
Rapidly progressive [MISCELLANEOUS] Early age of onset (approximately 45 years) [MISCELLANEOUS] Levodopa-responsive [MISCELLANEOUS] Phenotype range from typical Parkinson disease (168600) to dementia with Lewy bodies (127750) [MISCELLANEOUS] Caused by triplication of the alpha-synuclein gene (SNCA, 163890.0003) [MOLECULAR BASIS] |
| tui |
T047 |