Metadata | |
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ID | DOID:0112112 |
Name | combined oxidative phosphorylation deficiency 48 |
Definition | A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NSUN3 gene on chromosome 3q11.2. https://pubmed.ncbi.nlm.nih.gov/27356879/ |
Xrefs | |
Synonyms |
COXPD48 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |