loading...| Preferred Name | ATP SYNTHASE 6 | |
| Synonyms |
MITOCHONDRIAL MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3 NARP SYNDROME ATAXIA AND POLYNEUROPATHY, ADULT-ONSET CARDIOMYOPATHY, INFANTILE HYPERTROPHIC MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1 MTATP6 BILATERAL STRIATAL NECROSIS, INFANTILE, MITOCHONDRIAL COMPLEX V, ATP SYNTHASE, SUBUNIT ATPase 6 LEBER OPTIC ATROPHY ATP6 SEIZURES AND LACTIC ACIDOSIS |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/516060 |
|
| altLabel |
MITOCHONDRIAL MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3 NARP SYNDROME ATAXIA AND POLYNEUROPATHY, ADULT-ONSET CARDIOMYOPATHY, INFANTILE HYPERTROPHIC MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1 MTATP6 BILATERAL STRIATAL NECROSIS, INFANTILE, MITOCHONDRIAL COMPLEX V, ATP SYNTHASE, SUBUNIT ATPase 6 LEBER OPTIC ATROPHY ATP6 SEIZURES AND LACTIC ACIDOSIS |
|
| cui |
C1328349 C2748884 C0917796 C1537983 C1839022 C4225591 C1838916 C4016603 C3275684 |
|
| Has allelic variant |
http://purl.bioontology.org/ontology/OMIM/516060.0010 http://purl.bioontology.org/ontology/OMIM/516060.0012 http://purl.bioontology.org/ontology/OMIM/516060.0011 http://purl.bioontology.org/ontology/OMIM/516060.0003 http://purl.bioontology.org/ontology/OMIM/516060.0005 http://purl.bioontology.org/ontology/OMIM/516060.0006 http://purl.bioontology.org/ontology/OMIM/516060.0002 http://purl.bioontology.org/ontology/OMIM/516060.0001 http://purl.bioontology.org/ontology/OMIM/516060.0007 |
|
| MIMTYPEMEANING |
Gene with known sequence |
|
| notation |
516060 |
|
| OMIM Entry Type |
1 |
|
| OMIM MimType Value |
star |
|
| prefLabel |
ATP SYNTHASE 6 |
|
| tui |
T047 T033 T028 |