loading...| Preferred Name |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE |
| Synonyms |
PARK2 |
| ID |
http://purl.bioontology.org/ontology/OMIM/600116 |
| altLabel |
PARK2 PDJ PARKINSON DISEASE, JUVENILE, AUTOSOMAL RECESSIVE PARKINSONISM, EARLY-ONSET, WITH DIURNAL FLUCTUATION EPDF |
| cui |
C1868675 |
| Gene Locus |
6q25.2-q27 |
| Gene Symbol |
PDJ PARK2 PRKN |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU003334 http://purl.bioontology.org/ontology/OMIM/MTHU036384 http://purl.bioontology.org/ontology/OMIM/MTHU006631 http://purl.bioontology.org/ontology/OMIM/MTHU068213 http://purl.bioontology.org/ontology/OMIM/MTHU006635 http://purl.bioontology.org/ontology/OMIM/MTHU000765 http://purl.bioontology.org/ontology/OMIM/MTHU006634 http://purl.bioontology.org/ontology/OMIM/MTHU006637 http://purl.bioontology.org/ontology/OMIM/MTHU006632 http://purl.bioontology.org/ontology/OMIM/MTHU001772 http://purl.bioontology.org/ontology/OMIM/MTHU000301 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
600116 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE |
| Scope Statement |
Caused by mutation in the parkin RBR E3 ubiquitin protein ligase gene (PARK2, 602544.0001) [MOLECULAR BASIS] Onset before age 40 years [MISCELLANEOUS] Levodopa-responsive [MISCELLANEOUS] High frequency of levodopa-induced dyskinesias [MISCELLANEOUS] Symptoms improve following sleep [MISCELLANEOUS] |
| tui |
T047 |