Metadata | |
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ID | DOID:0111501 |
Name | combined oxidative phosphorylation deficiency 29 |
Definition | A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TXN2 gene on chromosome 22q12.3. https://www.ncbi.nlm.nih.gov/pubmed/26626369 |
Xrefs | |
Synonyms |
COXPD29 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |