phytanoyl-CoA hydroxylase deficiency
MONDO:0100258Mondo
Findings
No curated finding names phytanoyl-CoA hydroxylase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any disorder of peroxisomal alpha oxidation in which the cause of the disease is a mutation in the PHYH gene.
Definition from the Mondo Disease Ontology (MONDO:0100258), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PHYHHGNC:8940
- Definitive · ClinGen · Autosomal recessive · 2020
Where it sits
- Narrower terms (1)
Other names
2 names
Resolves to: phytanoyl-CoA hydroxylase deficiency
- Also called
- PHYH deficiencyPHYH related disorder of peroxisomal alpha oxidation