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Disease Ontology Browser
combined oxidative phosphorylation deficiency 1 (DOID:0111474)
Alliance: disease page
Synonyms: COXPD1; early fatal progressive hepatoencephalopathy; hepatoencephalopathy due to combined oxidative phosphorylation defect type 1; hepatoencephalopathy due to COXPD1
Alt IDs: OMIM:609060, ORDO:137681, UMLS_CUI:C1836797
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in GFM1 on chromosome 3q25.32.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/11/2020
MGI 6.14
The Jackson Laboratory