Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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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/MTHU025818

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU025820

http://purl.bioontology.org/ontology/OMIM/MTHU025824

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU028540

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

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

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/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/MTHU028539

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

http://purl.bioontology.org/ontology/OMIM/MTHU025825
MIMTYPEMEANING

Phenotype description, molecular basis known.
Moved from

600964
notation

266500
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

REFSUM DISEASE, CLASSIC
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/ICD10CM/G60.1 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/ICD10/G60.1 International Classification of Diseases, Version 10 CUI
http://purl.bioontology.org/ontology/MESH/C567602 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D012035 Medical Subject Headings CUI
http://purl.bmicc.cn/ontology/ICD10CN/G60.1 International Classification of Diseases, 10th Edition, China CUI