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combined oxidative phosphorylation deficiency 1
Summary
- Synonym
-
- COXPD1
- early fatal progressive hepatoencephalopathy
- hepatoencephalopathy due to COXPD1
- hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- Definition
- A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GFM1 gene on chromosome 3q25.32.
- Super Class
- autosomal recessive disease combined oxidative phosphorylation deficiency
External Links
- Disease Ontology
- DOID:0111474
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
