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loading...| Preferred Name |
NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 4 |
| Synonyms |
MITOCHONDRIAL COMPLEX I DEFICIENCY |
| ID |
http://purl.bioontology.org/ontology/OMIM/602694 |
| altLabel |
MITOCHONDRIAL COMPLEX I DEFICIENCY NADH-COENZYME Q REDUCTASE, 18-KD AQDQ NDUFS4 COMPLEX I, MITOCHONDRIAL RESPIRATORY CHAIN, 18-KD SUBUNIT LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY |
| cui |
C1417647 C1838979 C1838951 |
| Gene Locus |
5q11.1 |
| Gene Symbol |
AQDQ NDUFS4 |
| Has allelic variant |
http://purl.bioontology.org/ontology/OMIM/602694.0004 http://purl.bioontology.org/ontology/OMIM/602694.0001 http://purl.bioontology.org/ontology/OMIM/602694.0006 http://purl.bioontology.org/ontology/OMIM/602694.0002 |
| MIMTYPEMEANING |
Gene with known sequence |
| notation |
602694 |
| OMIM Entry Type |
1 |
| OMIM MimType Value |
star |
| prefLabel |
NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 4 |
| tui |
T028 T047 |
Create New Mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/C564021 | Medical Subject Headings | CUI | |
| http://purl.bioontology.org/ontology/MESH/C537475 | Medical Subject Headings | CUI |