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loading...| Preferred Name |
ATROPHIN 1 |
| Synonyms |
DRPLA |
| ID |
http://purl.bioontology.org/ontology/OMIM/607462 |
| altLabel |
DRPLA CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES DRPLA GENE DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY ATN1 |
| cui |
C1540211 C0751781 C5193125 |
| Gene Locus |
12p13.31 |
| Gene Symbol |
DRPLA CHEDDA HRS NOD ATN1 |
| Has allelic variant |
http://purl.bioontology.org/ontology/OMIM/607462.0004 http://purl.bioontology.org/ontology/OMIM/607462.0006 http://purl.bioontology.org/ontology/OMIM/607462.0005 http://purl.bioontology.org/ontology/OMIM/607462.0002 |
| MIMTYPEMEANING |
Gene with known sequence |
| notation |
607462 |
| OMIM Entry Type |
1 |
| OMIM MimType Value |
star |
| prefLabel |
ATROPHIN 1 |
| tui |
T028 T047 |
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