Disease #07027 (COXPD49 (combined oxidative phosphorylation deficiency, type 49), OMIM:619024)
Official abbreviation |
COXPD49 |
Name |
combined oxidative phosphorylation deficiency, type 49 |
OMIM ID |
619024 |
Human Phenotype Ontology Project (HPO) |
HPO |
Inheritance |
Autosomal recessive |
Individuals reported having this disease |
- |
Phenotype entries for this disease |
- |
Associated with 1 gene |
SMCR7 |
Associated tissues |
- |
Disease features |
- |
Remarks |
- |
Date created |
2023-09-18 12:14:28 +02:00 (CEST) |
Date last edited |
N/A |
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