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. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0070491 |
|
| alternative label |
MC4DN1 |
|
| database_cross_reference |
OMIM:220110 NCI:C176895 UMLS_CUI:C5435656 |
|
| 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. |
|
| has close match |
OMIM:220110 NCI:C176895 UMLS_CUI:C5435656 |
|
| has exact match |
OMIM:220110 NCI:C176895 UMLS_CUI:C5435656 |
|
| has exact synonym |
MC4DN1 |
|
| has material basis in | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0070491 |
|
| in_subset | ||
| label |
mitochondrial complex IV deficiency nuclear type 1 |
|
| notation |
DOID:0070491 |
|
| note |
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. |
|
| preferred label |
mitochondrial complex IV deficiency nuclear type 1 |
|
| prefLabel |
mitochondrial complex IV deficiency nuclear type 1 |
|
| subClassOf |