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loading...| Preferred Name | mitochondrial complex IV deficiency nuclear type 1 | |
| Synonyms |
MC4DN1 |
|
| Definitions |
A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34.2. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0070491 |
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| database_cross_reference |
NCI:C176895 UMLS_CUI:C5435656 MIM:220110 |
|
| definition |
A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34.2. |
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| has exact match |
NCI:C176895 UMLS_CUI:C5435656 MIM:220110 |
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| has exact synonym |
MC4DN1 |
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| has material basis in | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0070491 |
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| in_subset | ||
| label |
mitochondrial complex IV deficiency nuclear type 1 |
|
| notation |
DOID:0070491 |
|
| prefLabel |
mitochondrial complex IV deficiency nuclear type 1 |
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| subClassOf |
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