ARD
MCID: RFS001
MIFTS: 83

Refsum Disease (ARD) malady

Neuronal diseases, Eye diseases, Skin diseases, Metabolic diseases categories

Summaries for Refsum Disease

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21Genetics Home Reference, 42NIH Rare Diseases, 43NINDS, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 Refsum disease is an inherited condition that causes vision loss, loss of smell (anosmia), and a variety of other signs and symptoms. the vision loss associated with refsum disease is caused by an eye disorder called retinitis pigmentosa. other features can include bone abnormalities of the hands and feet; progressive muscle weakness and wasting; poor balance and coordination (ataxia); hearing loss; arrhythmias and heart abnormalities; and dry, scaly skin (ichthyosis). refsum disease can result from mutations in the phyh gene or the pex7 gene and is inherited in an autosomal recessive pattern. last updated: 11/9/2011

MalaCards: Refsum Disease, also known as heredopathia atactica polyneuritiformis, is related to infantile refsum disease and cataract, and has symptoms including psychic/psychomotor regression/dementia/intellectual decline, muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy and epiphyseal anomaly. An important gene associated with Refsum Disease is PHYH (phytanoyl-CoA 2-hydroxylase), and among its related pathways are Ketone body metabolism and fatty acid activation. The drugs acetylcysteine and methylprednisolone and the compounds lignoceric acid and trimetazidine have been mentioned in the context of this disorder. Affiliated tissues include eye, skin and heart, and related mouse phenotypes are liver/biliary system and growth/size.

Genetics Home Reference:21 Refsum disease is an inherited condition that causes vision loss, absence of the sense of smell (anosmia), and a variety of other signs and symptoms.

NINDS:43 Adult Refsum disease (ARD) is a rare genetic disease that causes weakness or numbness of the hands and feet (peripheral neuropathy).

Wikipedia:63 Refsum disease, also known as classic or adult Refsum disease, heredopathia atactica polyneuritiformis,... more...

Description from OMIM:46 266500,266510,614879

GeneReviews summary for refsum

Aliases & Classifications for Refsum Disease

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8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 43NINDS, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 27ICD9CM, 39NCIt, 34MeSH, 56SNOMED-CT, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Neuronal diseases, Eye diseases, Skin diseases


Characteristics (Orphanet epidemiological data):

48
refsum disease:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Childhood


Aliases & Descriptions:

refsum disease 8 9 19 42 21 43 46 10 44 48 60
heredopathia atactica polyneuritiformis 8 42 21 43 48
phytanic acid storage disease 19 22 21 43
refsum syndrome 19 20 21
phytanic acid oxidase deficiency 19 48
adult refsum disease 19 21
refsum's disease 8 21
hmsn type iv 8 21
hmsn 4 42 48
hereditary motor and sensory neuropathy type iv 21
hereditary motor and sensory neuropathy type 4 48
herditary sensory and motor neuropathy type 4 42
hereditary motorsensory neuropathy iv 19
respiratory distress syndrome, adult 60
disorder of cornification 11 42
classic refsum disease 21
retinitis pigmentosa 60
hsmn iv 8
hmsn iv 21
doc 11 42
crd 21
ard 21


External Ids:

Disease Ontology8 DOID:10582
ICD9CM27 356.3
NCIt39 C85043
MeSH34 D012035
SNOMED-CT56 25362006
MESH via Orphanet35 D012035
ICD10 via Orphanet26 G60.1
SNOMED-CT via Orphanet57 25362006
UMLS via Orphanet61 C0034960

Related Diseases for Refsum Disease

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Refsum Disease family:

Pex7-Related Refsum Disease Phyh-Related Refsum Disease

Diseases related to Refsum Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 531)
idRelated DiseaseScoreTop Affiliating Genes
1infantile refsum disease31.0PEX6, PEX1, CAT
2cataract30.7CAT
3refsum disease, infantile form30.4PEX26, PEX2
4glaucoma30.4PEX19
5zellweger spectrum30.3PEX12, PEX1, PEX13, PEX26, PEX19, PEX16
6zellweger syndrome30.3PEX26, PEX19, PEX16, PHYH, HADHB, GNPAT
7rhizomelic chondrodysplasia punctata30.2CAT, GNPAT, HADHB, PHYH, PEX7
8adrenoleukodystrophy30.2PEX26, GNPAT, CAT, AMACR, HADHB, EHHADH
9polyneuropathy30.1PEX7
10tuberculosis30.0AMACR
11retinal degeneration10.8
12macular retinal edema10.7
13usher syndrome10.7
14cystoid macular edema10.7
15leber congenital amaurosis10.6
16neuropathy ataxia retinitis pigmentosa syndrome10.6
17rhyns syndrome10.6
18peroxisomal disease10.6
19adult respiratory distress syndrome10.6
20posterior column ataxia with retinitis pigmentosa10.5
21adult syndrome10.5
22stargardt disease10.5
23choroiditis10.5
24cone-rod dystrophy10.4
25choroideremia10.4
26cone dystrophy10.4
27autosomal dominant disease10.4
28autosomal recessive disease10.4
29muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus10.4
30x-linked intellectual disability-retinitis pigmentosa syndrome10.4
31retinitis pigmentosa autosomal recessive10.4
32retinitis pigmentosa 310.4
33retinitis pigmentosa 1110.4
34retinitis pigmentosa 910.4
35polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract10.4
36bardet-biedl syndrome10.3
37nephronophthisis10.3
38x-linked disease10.3
39spastic quadriplegia retinitis pigmentosa mental retardation10.3
40retinitis pigmentosa 4110.3
41retinitis pigmentosa 1310.3
42retinitis pigmentosa 1410.3
43retinitis pigmentosa 1710.3
44retinitis pigmentosa 1810.3
45retinitis pigmentosa 1910.3
46retinitis pigmentosa 2010.3
47retinitis pigmentosa 2510.3
48retinitis pigmentosa 2610.3
49retinitis pigmentosa 3010.3
50retinitis pigmentosa 3110.3

Graphical network of the top 20 diseases related to Refsum Disease:



Diseases related to refsum disease

Clinical Features for Refsum Disease

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46OMIM, 48Orphanet
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Clinical features from OMIM:

266500,266510,614879

Clinical synopsis from OMIM:

266500

Symptoms:

48 (show all 38)
  • psychic/psychomotor regression/dementia/intellectual decline
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • epiphyseal anomaly
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • visual loss/blindness/amblyopia
  • nystagmus
  • pes cavus
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • cardiac conduction defect/sinoauricular/heart/auriculoventricular/branch block
  • renal failure
  • autosomal recessive inheritance
  • sensorineural deafness/hearing loss
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • hypotonia
  • peripheral neuropathy
  • cardiomyopathy/hypertrophic/dilated
  • ichthyosis/ichthyosiform dermatitis
  • dry/squaly skin/exfoliation
  • foot anomalies
  • anomalies of ear and hearing
  • anosmia/cacosmia/hypogeusia/hyposmia/olfactory bulb hypoplasia
  • retinitis pigmentosa/retinal pigmentary changes
  • retinopathy
  • cataract/lens opacification
  • ataxia/incoordination/trouble of the equilibrium
  • pyramidal syndrome
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • splenomegaly
  • storage liver disease
  • claw toes/retracted toes
  • metacarpal anomalies/archibald's sign
  • ptosis
  • abnormal eye movements/oculomotor disorder
  • pupillary anomalies/mydriasis/myosis/tonic pupil
  • metabolic anomalies
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • anomalies of eyes and vision

Drugs & Therapeutics for Refsum Disease

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Refsum Disease

Drug clinical trials:

Search ClinicalTrials for Refsum Disease

Search NIH Clinical Center for Refsum Disease

Search CenterWatch for Refsum Disease

Inferred drug relations via UMLS60/NDF-RT40:

Genetic Tests for Refsum Disease

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20GeneTests, 22GTR
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Genetic tests related to Refsum Disease:

id Genetic test Affiliating Genes
1 Refsum Disease20
2 Phytanic Acid Storage Disease22

Anatomical Context for Refsum Disease

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32MalaCards
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MalaCards organs/tissues related to Refsum Disease:

32
Eye, Skin, Heart, Bone, Liver, Olfactory bulb, Lung, Brain, Monocytes, Testes, Cortex, Cerebellum, Retina

Animal Models for Refsum Disease or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Refsum Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.7PEX7, EHHADH, PHYH, HADHB, AMACR
2MP:00053789.3GNPAT, HADHB, PHYH, EHHADH, PEX13, PEX2
3MP:00053768.9HADHB, GNPAT, CAT, AMACR, PHYH, EHHADH

Publications for Refsum Disease

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50PubMed
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Articles related to Refsum Disease:

(show top 50)    (show all 66)
idTitleAuthorsYear
1
Marked inhibition of Na+, K(+)- ATPase activity and the respiratory chain by phytanic acid in cerebellum from young rats: possible underlying mechanisms of cerebellar ataxia in Refsum disease. (23151916)
2013
2
A child with night blindness: preventing serious symptoms of Refsum disease. (22156782)
2012
3
Medical-dental findings and management of a child with infantile Refsum disease: a case report. (22591434)
2012
4
Phytanic acid disturbs mitochondrial homeostasis in heart of young rats: a possible pathomechanism of cardiomyopathy in Refsum disease. (22527938)
2012
5
Phytanic acid and pristanic acid, branched-chain fatty acids associated with Refsum disease and other inherited peroxisomal disorders, mediate intracellular Ca2+ signaling through activation of free fatty acid receptor GPR40. (21570468)
2011
6
The effectiveness of long-term dietary therapy in the treatment of adult Refsum disease. (20547622)
2010
7
Adult Refsum disease: a form of tapetoretinal dystrophy accessible to therapy. (20850855)
2010
8
The influence of the branched-chain fatty acids pristanic acid and Refsum disease-associated phytanic acid on mitochondrial functions and calcium regulation of hippocampal neurons, astrocytes, and oligodendrocytes. (19703563)
2009
9
Midlife diagnosis of Refsum disease in siblings with retinitis pigmentosa -- the footprint is the clue: a case report. (18336720)
2008
10
Phenotype of adult Refsum disease due to a defect in peroxin 7. (17325280)
2007
11
Mechanism of toxicity of the branched-chain fatty acid phytanic acid, a marker of Refsum disease, in astrocytes involves mitochondrial impairment. (16386870)
2006
12
Brain pyruvate and 2-oxoglutarate dehydrogenase complexes are mitochondrial targets of the CoA ester of the Refsum disease marker phytanic acid. (16737698)
2006
13
The Refsum disease marker phytanic acid, a branched chain fatty acid, affects Ca2+ homeostasis and mitochondria, and reduces cell viability in rat hippocampal astrocytes. (15649701)
2005
14
Omega-hydroxylation of phytanic acid in rat liver microsomes: implications for Refsum disease. (15102880)
2004
15
Changes underlying arrhythmia in the transgenic heart overexpressing Refsum disease gene-associated protein. (14672712)
2004
16
Metabolism of phytanic acid and 3-methyl-adipic acid excretion in patients with adult Refsum disease. (12700346)
2003
17
Further studies on the substrate spectrum of phytanoyl-CoA hydroxylase: implications for Refsum disease? (12923223)
2003
18
Infantile refsum disease: case report. (14625237)
2003
19
Postnatal expression and distribution of Refsum disease gene associated protein in the rat retina and visual cortex: effect of binocular visual deprivation. (12034140)
2002
20
Effects of phytanic acid on the vitamin E status, lipid composition and physical properties of retinal cell membranes: implications for adult Refsum disease. (11724659)
2001
21
Refsum disease, peroxisomes and phytanic acid oxidation: a review. (11706932)
2001
22
Cardiac Characteristics of Transgenic Mice Overexpressing Refsum Disease Gene-Associated Protein within the Heart. (11527414)
2001
23
Atypical refsum disease with pipecolic acidemia and abnormal catalase distribution. (10632109)
2000
24
Identification of a brain specific protein that associates with a Refsum disease gene product, phytanoyl-CoA alpha-hydroxylase. (10686344)
2000
25
Infantile refsum disease in four Amish sibs. (10607947)
2000
26
Refsum disease diagnostic marker phytanic acid alters the physical state of membrane proteins of liver mitochondria. (10471774)
1999
27
Immunophilins, Refsum disease, and lupus nephritis: the peroxisomal enzyme phytanoyl-CoA alpha-hydroxylase is a new FKBP-associated protein. (10051602)
1999
28
Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum disease. (10709665)
1999
29
Disruption of a PEX1-PEX6 interaction is the most common cause of the neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease. (9671729)
1998
30
Molecular basis of Refsum disease: identification of new mutations in the phytanoyl-CoA hydroxylase cDNA. (9686377)
1998
31
Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata. (9266377)
1997
32
Identification of PAHX, a Refsum disease gene. (9326939)
1997
33
Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene. (9326940)
1997
34
Infantile Refsum disease: neonatal cholestatic jaundice presentation of a peroxisomal disorder. (7533834)
1995
35
Localization of Refsum disease with increased pipecolic acidaemia to chromosome 10p by homozygosity mapping and carrier testing in a single nuclear family. (8595422)
1995
36
Resistance to erucic acid as a selectable marker for peroxisomal activity: isolation of revertants of an infantile Refsum disease cell line. (7519689)
1994
37
Refsum disease: a defect in the alpha-oxidation of phytanic acid in peroxisomes. (7504046)
1993
38
Refsum Disease (20301527)
1993
39
Plasma lipoproteins and monocyte-macrophages in a peroxisome-deficient system: study of a patient with infantile refsum disease. (1279267)
1992
40
Autopsy findings in two siblings with infantile Refsum disease. (1373019)
1992
41
Refsum disease: the presentation and ophthalmic aspects of Refsum disease in a series of 23 patients. (1282471)
1992
42
Infantile refsum disease: gastrointestinal presentation of a peroxisomal disorder. (1374125)
1992
43
Infantile Refsum disease. (1722385)
1991
44
A case of Refsum disease with atypical clinical picture in family members. (2477346)
1989
45
Hepatic peroxisomes are deficient in infantile refsum disease: a cytochemical study of 4 cases. (2430454)
1986
46
Biosynthesis and maturation of peroxisomal beta-oxidation enzymes in fibroblasts in relation to the Zellweger syndrome and infantile Refsum disease. (2426710)
1986
47
Infantile Refsum disease: deficiency of catalase-containing particles (peroxisomes), alkyldihydroxyacetone phosphate synthase and peroxisomal beta-oxidation enzyme proteins. (2429839)
1986
48
Refsum disease--the effect of diet. (2417395)
1985
49
Location of double bonds in two unsaturated forms of phytanic acid from Refsum disease as determined by mass spectrometry. (6190513)
1983
50
Therapeutic trial of plasmapheresis in Refsum disease and in Fabry disease. (6160883)
1980

Genetic Variations for Refsum Disease

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Refsum Disease:

62 (show all 15)
id Symbol AA change Variation ID SNP ID
1PHYHp.Asn269HisVAR_005525
2PHYHp.Arg275TrpVAR_005526rs28939671
3PHYHp.Pro173SerVAR_017483
4PHYHp.Gln176LysVAR_017484rs28939672
5PHYHp.Asp177GlyVAR_017485
6PHYHp.Trp193ArgVAR_017486
7PHYHp.Glu197GlnVAR_017487
8PHYHp.Ile199PheVAR_017488
9PHYHp.Gly204SerVAR_017489rs28939673
10PHYHp.His220TyrVAR_017490
11PHYHp.Arg245GlnVAR_017491rs62619919
12PHYHp.Phe257SerVAR_017492
13PHYHp.Arg275GlnVAR_017493rs28939674
14PHYHp.Asn83TyrVAR_018619
15PHYHp.His175ArgVAR_018631

Expression for genes affiliated with Refsum Disease

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Refsum Disease

Search GEO for disease gene expression data for Refsum Disease.

Pathways for genes affiliated with Refsum Disease

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53Reactome, 29KEGG, 37NCBI BioSystems Database
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Compounds for genes affiliated with Refsum Disease

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44Novoseek, 28IUPHAR, 24HMDB, 11DrugBank
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Compounds related to Refsum Disease according to GeneCards/GeneDecks:

(show all 21)
idCompoundScoreTop Affiliating Genes
1lignoceric acid4410.4GNPAT, HADHB
2trimetazidine4410.4HADHB, CAT
3pristanic acid44 28 2412.3AMACR, GNPAT, EHHADH
43-oxoacyl-coa4410.3ACAA1, EHHADH, GNPAT
5benzoyl-coa44 2411.3HADHB, ACAA1
63-methylcrotonyl-coa44 2411.3HADHB, EHHADH, ACAA1
7(3S)-3-Hydroxyadipyl-CoA2410.3HADHB, EHHADH
8phytanic acid4410.2AMACR, CAT, GNPAT, PHYH, ACAA1
9(2E)-Octenoyl-CoA2410.1EHHADH, HADHB, GNPAT, ACAA1
10(2E)-Tetradecenoyl-CoA2410.1ACAA1, EHHADH, HADHB, GNPAT
11(2E)-Dodecenoyl-CoA2410.1GNPAT, ACAA1, EHHADH, HADHB
12(2E)-Decenoyl-CoA2410.1ACAA1, EHHADH, HADHB, GNPAT
13(2E)-Hexadecenoyl-CoA2410.1GNPAT, HADHB, EHHADH, ACAA1
14Coenzyme A11 2411.1ACAA1, HADHB, GNPAT
15citrate4410.1HADHB, CAT, AMACR
162-methylbutyryl-coa44 2411.0GNPAT, HADHB, ACAA1
17fatty acid4410.0AMACR, GNPAT, HADHB, PHYH, EHHADH, PEX7
18octanoyl-coa44 2410.9ACAA1, HADHB, GNPAT
19acyl-coa449.8PEX6, PEX5, SLC25A17, EHHADH, HADHB, GNPAT
20lipid449.8AMACR, CAT, GNPAT, HADHB, PHYH, PEX1
21stearoyl-coa44 2410.7GNPAT, HADHB, ACAA1

GO Terms for genes affiliated with Refsum Disease

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16Gene Ontology
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Cellular components related to Refsum Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1peroxisomal matrixGO:0057829.6AMACR, CAT, GNPAT, PHYH, ACAA1, PEX7
2intracellular membrane-bounded organelleGO:0432319.6EHHADH, ACAA1, PEX1, PEX3
3integral to peroxisomal membraneGO:0057799.6SLC25A17, PEX26, PEX16, PEX10, PEX2, PEX3
4mitochondrionGO:0057399.5AMACR, GNPAT, HADHB, PHYH, EHHADH, SLC25A17
5cytosolGO:0058299.5EHHADH, PEX1, PEX3, PEX7, PEX5, PEX6
6peroxisomal membraneGO:0057788.9PEX10, PEX5, PEX2, PEX3, PEX13, PEX1
7peroxisomeGO:0057778.2PEX3, PEX7, PEX5, PEX10, PEX6, PEX16

Biological processes related to Refsum Disease according to GeneCards/GeneDecks:

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1microtubule-based peroxisome localizationGO:06015210.4PEX13, PEX1
2protein import into peroxisome matrix, translocationGO:01656110.4PEX5, PEX6
3protein import into peroxisome matrix, dockingGO:01656010.3PEX13, PEX5
4very long-chain fatty acid metabolic processGO:00003810.3ACAA1, PEX2, PEX5
5peroxisome membrane biogenesisGO:01655710.3PEX3, PEX16, PEX19
6fatty acid alpha-oxidationGO:00156110.3PEX13, SLC25A17, PHYH
7ether lipid biosynthetic processGO:00861110.3PEX7, GNPAT
8bile acid biosynthetic processGO:00669910.2PEX2, AMACR
9cerebral cortex cell migrationGO:02179510.2PEX5, PEX13
10neuron migrationGO:00176410.2PEX5, PEX7, PEX2, PEX13
11protein import into peroxisome membraneGO:04504610.1PEX3, PEX5, PEX16, PEX19, PEX26
12protein targeting to peroxisomeGO:00662510.1PEX19, PEX16, PEX6, PEX5, PEX1, PEX12
13protein import into peroxisome matrixGO:0165589.9PEX7, PEX2, PEX1, PEX12, PEX5, PEX10
14cellular lipid metabolic processGO:0442559.9AMACR, GNPAT, HADHB, PHYH, SLC25A17, ACAA1
15fatty acid beta-oxidation using acyl-CoA oxidaseGO:0335409.9ACAA1, AMACR
16fatty acid beta-oxidationGO:0066359.8HADHB, EHHADH, SLC25A17, ACAA1, PEX2, PEX7
17peroxisome organizationGO:0070319.7PEX19, PEX16, PEX6, PEX10, PEX7, PEX2
18small molecule metabolic processGO:0442819.4AMACR, CAT, GNPAT, HADHB, PHYH, SLC25A17

Molecular functions related to Refsum Disease according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1acetyl-CoA C-acyltransferase activityGO:00398810.3ACAA1, HADHB
2enoyl-CoA hydratase activityGO:00430010.2HADHB, EHHADH
3protein complex bindingGO:03240310.2HADHB, PEX1, PEX6, PEX26
43-hydroxyacyl-CoA dehydrogenase activityGO:00385710.1EHHADH, HADHB
5ATPase activity, coupledGO:04262310.0PEX6, PEX1
6receptor bindingGO:0051029.9EHHADH, GNPAT, CAT, AMACR
7enzyme bindingGO:0198999.9CAT, EHHADH, PEX7, PEX5
8protein C-terminus bindingGO:0080229.9PEX26, PEX12, PEX1, PEX5, PEX10, PEX6
9protein bindingGO:0055158.7PEX1, PEX12, ACAA1, SLC25A17, PHYH, HADHB

Products for genes affiliated with Refsum Disease

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Sources for Refsum Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet