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Preferred Name

REFSUM DISEASE, CLASSIC
Synonyms

HMSN4
ID

http://purl.bioontology.org/ontology/OMIM/266500
altLabel

HMSN4

HEREDOPATHIA ATACTICA POLYNEURITIFORMIS

HMSN IV

HEREDITARY MOTOR AND SENSORY NEUROPATHY IV

PHYTANIC ACID OXIDASE DEFICIENCY

REFSUM DISEASE, ADULT, 1
cui

C0034960

C2749345
Gene Locus

10pter-p11.2
Gene Symbol

PAHX

PHYH
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU036362

http://purl.bioontology.org/ontology/OMIM/MTHU003322

http://purl.bioontology.org/ontology/OMIM/MTHU001812

http://purl.bioontology.org/ontology/OMIM/MTHU003279

http://purl.bioontology.org/ontology/OMIM/MTHU012782

http://purl.bioontology.org/ontology/OMIM/MTHU000235

http://purl.bioontology.org/ontology/OMIM/MTHU025818

http://purl.bioontology.org/ontology/OMIM/MTHU025808

http://purl.bioontology.org/ontology/OMIM/MTHU056957

http://purl.bioontology.org/ontology/OMIM/MTHU073578

http://purl.bioontology.org/ontology/OMIM/MTHU000328

http://purl.bioontology.org/ontology/OMIM/MTHU025810

http://purl.bioontology.org/ontology/OMIM/MTHU025816

http://purl.bioontology.org/ontology/OMIM/MTHU000702

http://purl.bioontology.org/ontology/OMIM/MTHU037429

http://purl.bioontology.org/ontology/OMIM/MTHU000155

http://purl.bioontology.org/ontology/OMIM/MTHU025809

http://purl.bioontology.org/ontology/OMIM/MTHU036393

http://purl.bioontology.org/ontology/OMIM/MTHU010221

http://purl.bioontology.org/ontology/OMIM/MTHU032649

http://purl.bioontology.org/ontology/OMIM/MTHU004856

http://purl.bioontology.org/ontology/OMIM/MTHU025817

http://purl.bioontology.org/ontology/OMIM/MTHU025821

http://purl.bioontology.org/ontology/OMIM/MTHU025811

http://purl.bioontology.org/ontology/OMIM/MTHU025819

http://purl.bioontology.org/ontology/OMIM/MTHU025813

http://purl.bioontology.org/ontology/OMIM/MTHU000322

http://purl.bioontology.org/ontology/OMIM/MTHU000335

http://purl.bioontology.org/ontology/OMIM/MTHU036435
MIMTYPEMEANING

Phenotype description, molecular basis known.
Moved from

600964
notation

266500
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

REFSUM DISEASE, CLASSIC
Scope Statement

Symptoms show insidious onset in the late first through third decades [MISCELLANEOUS]

Caused by mutation in the phytanoyl-CoA hydroxylase gene (PHYH, 602026.0001) [MOLECULAR BASIS]

Affected infants appear normal [MISCELLANEOUS]
tui

T047
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http://purl.bioontology.org/ontology/ICD10CM/G60.1 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类，第10版-临床修改 CUI
http://purl.bioontology.org/ontology/ICD10/G60.1 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 CUI
http://purl.bioontology.org/ontology/MESH/C567602 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/D012035 Medical Subject Headings / 医学主题词表 CUI
http://purl.bmicc.cn/ontology/ICD10CN/G60.1 《国际疾病分类》第10版中文版 / International Classification of Diseases, 10th Edition, China CUI