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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/516005
http://purl.bioontology.org/ontology/OMIM/516005
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|---|---|
| Preferred Name | COMPLEX I, SUBUNIT ND5 |
| Synonyms |
MELAS SYNDROME
NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND5
PARKINSON DISEASE 6, MODIFIER OF
MTND5
LEBER OPTIC ATROPHY
MERRF SYNDROME
NADH DEHYDROGENASE, SUBUNIT 5
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MELAS SYNDROME
NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND5
PARKINSON DISEASE 6, MODIFIER OF
MTND5
LEBER OPTIC ATROPHY
MERRF SYNDROME
NADH DEHYDROGENASE, SUBUNIT 5
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
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|
|---|---|
| prefLabel |
COMPLEX I, SUBUNIT ND5
|
| notation |
516005
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| Has allelic variant |
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| OMIM MimType Value |
star
|
| Semantic type UMLS property | |
| OMIM Entry Type |
1
|
| type | |
| MIMTYPEMEANING |
Gene with known sequence
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| Phenotype of |
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|
| tui |
T047
T033
T028
|
| cui |
C4016598
C1537994
C1838951
C0162671
C0162672
C0917796
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|
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