phytanoyl-CoA 2-hydroxylase

Preferred Label : phytanoyl-CoA 2-hydroxylase;

Approved symbol HGNC : PHYH;

Name synonyms HGNC : Refsum disease; phytanoyl-CoA dioxygenase;

Alias symbols HGNC : RD; PHYH1; PAHX;

Chromosome HGNC : 10p13;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000107537;

Details

Origin ID

HGNC:8940;

UMLS CUI

C1418543;

Automatic exact mappings (from CISMeF team)
- Phytanic acid storage disease (disorder) [SNOMED CT concept]
- Phytanoyl-coa hydroxylase [OMIM gene]
- Radin blood group antigen [OMIM Phenotype]
- Refsum Disease [NCIt concept]
- Refsum disease [DO Concept]
- Refsum disease [PASCAL descriptor]
- Refsum disease [ORDO Disease]
- Refsum disease [ICD-11 More detail]
- Refsum's disease [ICD-9 code]
- Refsum's disease [MedDRA Preferred Term]
- Refsum's disease [ICD-10 Sub-category]
- peroxisomal biogenesis factor 7 [ORDO Gene]
- phytanoyl-CoA 2-hydroxylase [ORDO Gene]
- refsum disease [MeSH Descriptor]
- refsum disease [MeSH concept]
OMIM gene
- Phytanoyl-coa hydroxylase [OMIM gene]
Orphanet gene
- phytanoyl-CoA 2-hydroxylase [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- Phytanoyl-coa hydroxylase [OMIM gene]

Keyword's position in hierarchy(ies) :

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