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GENE - TERM ANNOTATION REPORT

RGD ID: 620317
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Phyh
Name: phytanoyl-CoA 2-hydroxylase
Acc ID: DOID:10582
Term: Refsum disease
Definition: A lipid metabolic disorder that is characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues. (DO)
Definition Source(s): https://en.wikipedia.org/wiki/Refsum_disease "DO" "DO", https://medlineplus.gov/genetics/condition/refsum-disease/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/30578512/ "DO" "DO", https://rarediseases.org/rare-diseases/refsum-disease/ "DO" "DO", MESH:D012035
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Phyh ISOPHYH (Homo sapiens)13831337RGD  
Phyh ISOPhyh (Mus musculus)13831313RGD  
Phyh ISOPHYH (Homo sapiens)7240710OMIM  
Phyh ISOPHYH (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:12522768
Phyh ISOPHYH (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: PHYH-related condition | ClinVar Annotator: match by term: Phytanic acid oxidase deficiency | ClinVar Annotator: match by term: Phytanic acid storage disease | ClinVar Annotator: match by term: Refsum syndromePMID:10767344 PMID:11555634 PMID:1155634 PMID:11948235 PMID:14974078 PMID:16186124 PMID:16199547 PMID:17576681 PMID:17905308 PMID:18612766 PMID:20818383 PMID:24033266 PMID:25472526 PMID:25525159 PMID:25604618 PMID:25741868 PMID:27229527 PMID:28041643 PMID:28470644 PMID:28492532 PMID:28681609 PMID:31240149 PMID:31456290 PMID:32581362 PMID:34906470 PMID:9326939 PMID:9326940 PMID:9536098 PMID:9657395
Phyh ISSPhyh (Mus musculus)13592920MouseDOOMIM:266500 
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