loading...| Preferred Name |
Cytochrome-c Oxidase Deficiency |
|
| Synonyms |
Deficiencies, Cytochrome Oxidase |
|
| Definitions |
A disease that results from a congenital defect in ELECTRON TRANSPORT COMPLEX IV. Defects in ELECTRON TRANSPORT COMPLEX IV can be caused by mutations in the SURF1, SCO2, COX10, or SCO1 genes. ELECTRON TRANSPORT COMPLEX IV deficiency caused by mutation in SURF1 manifests itself as LEIGH DISEASE; that caused by mutation in SCO2 as fatal infantile cardioencephalomyopathy; that caused by mutation in COX10 as tubulopathy and leukodystrophy; and that caused by mutation in SCO1 as early-onset hepatic failure and neurologic disorder. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#220110, May 17, 2001) |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D030401 |
|
| altLabel |
Deficiencies, Cytochrome Oxidase Deficiency, Cytochrome Oxidase Cox Deficiencies Cytochrome-c Oxidase Deficiencies Complex IV Deficiency Oxidase Deficiency, Cytochrome-c Cytochrome C Oxidase Deficiency Deficiencies, Complex IV Deficiency, Complex IV Complex IV Deficiencies Cytochrome Oxidase Deficiencies Deficiencies, Cox Oxidase Deficiencies, Cytochrome Cox Deficiency Deficiencies, Cytochrome-c Oxidase Deficiency, Cytochrome-c Oxidase Cytochrome Oxidase Deficiency Mitochondrial Complex IV Deficiency Oxidase Deficiency, Cytochrome Deficiency, Cox Deficiency, Cytochrome c Oxidase Oxidase Deficiencies, Cytochrome-c |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C0268237 |
|
| DC |
1 |
|
| definition |
A disease that results from a congenital defect in ELECTRON TRANSPORT COMPLEX IV. Defects in ELECTRON TRANSPORT COMPLEX IV can be caused by mutations in the SURF1, SCO2, COX10, or SCO1 genes. ELECTRON TRANSPORT COMPLEX IV deficiency caused by mutation in SURF1 manifests itself as LEIGH DISEASE; that caused by mutation in SCO2 as fatal infantile cardioencephalomyopathy; that caused by mutation in COX10 as tubulopathy and leukodystrophy; and that caused by mutation in SCO1 as early-onset hepatic failure and neurologic disorder. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#220110, May 17, 2001) |
|
| DX |
20020101 |
|
| FX |
D003576 |
|
| HN |
2002 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Inverse of RO | ||
| Machine permutation |
2002 |
|
| Mapped from | ||
| MDA |
20010725 |
|
| MMR |
20130708 |
|
| MN |
C16.320.565.240 C18.452.660.195 |
|
| notation |
D030401 |
|
| prefLabel |
Cytochrome-c Oxidase Deficiency |
|
| TERMUI |
T812182 T843578 T443344 T812183 T443346 T843579 T447259 |
|
| TH |
OMIM (2013) NLM (2002) GHR (2014) |
|
| tui |
T047 |
|
| subClassOf |