Disease #02048 (Refsum (Refsum disease (deficiency, phytanic acid oxidase)), OMIM:266500)

Official abbreviation Refsum
Name Refsum disease (deficiency, phytanic acid oxidase)
OMIM ID 266500
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 3
Phenotype entries for this disease 3
Associated with 2 genes PEX7, PHYH
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Individuals

3 entries on 1 page. Showing entries 1 - 3.
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00104991 64ORG1 PubMed: de Castro-Miró 2016 - M no Argentina - - 0 - - Refsum - - PHYH 2 1 Marta de Castro-Miró
00155523 - Sharon, submitted - M yes Israel Arab-Muslim - 0 - - Refsum - PHYH PHYH 1 1 Dror Sharon
00327466 FamNZ1PatIII4 PubMed: Zito 2000 2-generation family, 3 affected males, 2 unaffected carrier females M - United Kingdom (Great Britain) - - 0 - - Refsum - RPGR RPGR 6 3 Johan den Dunnen
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