loading...| Preferred Name |
ATP SYNTHASE 6 |
| Synonyms |
COMPLEX V, ATP SYNTHASE, SUBUNIT ATPase 6 |
| ID |
http://purl.bioontology.org/ontology/OMIM/516060 |
| altLabel |
COMPLEX V, ATP SYNTHASE, SUBUNIT ATPase 6 NARP SYNDROME MTATP6 ATAXIA AND POLYNEUROPATHY, ADULT-ONSET CARDIOMYOPATHY, INFANTILE HYPERTROPHIC ATP6 LEBER OPTIC ATROPHY MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1 MITOCHONDRIAL MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3 (1 patient) BILATERAL STRIATAL NECROSIS, INFANTILE, MITOCHONDRIAL MC5DM1 SEIZURES AND LACTIC ACIDOSIS LEIGH SYNDROME |
| cui |
C0023264 C2748884 C1537983 C1839022 C4225591 C0917796 C3275684 C1838916 C1328349 C4016603 |
| Has allelic variant |
http://purl.bioontology.org/ontology/OMIM/516060.0011 http://purl.bioontology.org/ontology/OMIM/516060.0012 http://purl.bioontology.org/ontology/OMIM/516060.0007 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/516060.0003 http://purl.bioontology.org/ontology/OMIM/516060.0001 http://purl.bioontology.org/ontology/OMIM/516060.0010 |
| MIMTYPEMEANING |
Gene with known sequence and phenotype |
| notation |
516060 |
| OMIM Entry Type |
4 |
| OMIM MimType Value |
plus |
| prefLabel |
ATP SYNTHASE 6 |
| tui |
T028 T033 T047 |