loading...| Preferred Name |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE |
|
| Synonyms |
PDJ PARKINSON DISEASE, JUVENILE, AUTOSOMAL RECESSIVE EPDF PARK2 PARKINSONISM, EARLY-ONSET, WITH DIURNAL FLUCTUATION |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/600116 |
|
| altLabel |
PDJ PARKINSON DISEASE, JUVENILE, AUTOSOMAL RECESSIVE EPDF PARK2 PARKINSONISM, EARLY-ONSET, WITH DIURNAL FLUCTUATION |
|
| cui |
C1868675 |
|
| Gene Locus |
6q25.2-q27 |
|
| Gene Symbol |
PDJ PARK2 PRKN |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU006632 http://purl.bioontology.org/ontology/OMIM/MTHU002750 http://purl.bioontology.org/ontology/OMIM/MTHU006636 http://purl.bioontology.org/ontology/OMIM/MTHU068213 http://purl.bioontology.org/ontology/OMIM/MTHU006634 http://purl.bioontology.org/ontology/OMIM/MTHU000765 http://purl.bioontology.org/ontology/OMIM/MTHU003334 http://purl.bioontology.org/ontology/OMIM/MTHU001772 http://purl.bioontology.org/ontology/OMIM/MTHU006637 http://purl.bioontology.org/ontology/OMIM/MTHU006631 http://purl.bioontology.org/ontology/OMIM/MTHU036384 |
|
| 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 |
Symptoms improve following sleep [MISCELLANEOUS] High frequency of levodopa-induced dyskinesias [MISCELLANEOUS] Levodopa-responsive [MISCELLANEOUS] Caused by mutation in the parkin RBR E3 ubiquitin protein ligase gene (PARK2, 602544.0001) [MOLECULAR BASIS] Onset before age 40 years [MISCELLANEOUS] |
|
| tui |
T047 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MSHFRE/D020734 | MSHFRE | CUI | |
| http://purl.bioontology.org/ontology/MESH/D020734 | MESH | CUI | |
| http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C198603 | NCIT | LOOM |