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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/614654
http://purl.bioontology.org/ontology/OMIM/614654
|
|---|---|
| Preferred Name | COENZYME Q10 DEFICIENCY, PRIMARY, 5 |
| Synonyms |
COQ10D5
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | COQ10D5
|
|---|---|
| prefLabel | COENZYME Q10 DEFICIENCY, PRIMARY, 5
|
| Gene Symbol |
COQ10D5
COQ9
C16orf49
|
| Scope Statement | Two unrelated patients have been reported (last curated October 2016) [MISCELLANEOUS]
Caused by mutation in the homolog of the S. cerevisiae COQ9 gene (COQ9, 612837.0001) [MOLECULAR BASIS]
The patients died in infancy or early childhood [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 16q13
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 614654
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3553374
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |