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loading...| Preferred Name |
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET |
| Synonyms |
PARK7 |
| ID |
http://purl.bioontology.org/ontology/OMIM/606324 |
| altLabel |
PARK7 |
| cui |
C1853445 |
| Gene Locus |
1p36 |
| Gene Symbol |
DJ1 PARK7 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU004078 http://purl.bioontology.org/ontology/OMIM/MTHU004076 http://purl.bioontology.org/ontology/OMIM/MTHU000765 http://purl.bioontology.org/ontology/OMIM/MTHU003683 http://purl.bioontology.org/ontology/OMIM/MTHU000773 http://purl.bioontology.org/ontology/OMIM/MTHU004077 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
606324 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET |
| Scope Statement |
Good response to L-dopa initially [MISCELLANEOUS] Slow progression [MISCELLANEOUS] Onset before age 40 years [MISCELLANEOUS] Caused by mutation in the DJ1 gene (602533.0001) [MOLECULAR BASIS] |
| tui |
T047 |
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