Metadata | |
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ID | DOID:0112118 |
Name | combined oxidative phosphorylation deficiency 42 |
Definition | A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GATC gene on chromosome 12q24.31. https://pubmed.ncbi.nlm.nih.gov/30283131/ |
Xrefs | |
Synonyms |
COXPD42 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |