ARD
MCID: RFS001
MIFTS: 73

Refsum Disease (ARD) malady

Neuronal, Eye, Skin, Metabolic categories

Summaries for Refsum Disease

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 44NINDS, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 refsum disease, infantile form, and has symptoms including epiphyseal anomaly, autosomal recessive inheritance and pyramidal syndrome. 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 skin, liver and brain, 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:44 Adult Refsum disease (ARD) is a rare genetic disease that causes weakness or numbness of the hands and feet (peripheral neuropathy).

Wikipedia:64 Refsum disease, also known as classic or adult Refsum disease, heredopathia atactica polyneuritiformis,... more...

Description from OMIM:47 266500,266510,614879

GeneReviews summary for refsum

Aliases & Classifications for Refsum Disease

Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 44NINDS, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 27ICD9CM, 40NCIt, 35MeSH, 57SNOMED-CT, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
refsum disease:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Childhood


Aliases & Descriptions:

refsum disease 8 9 19 43 21 44 47 10 45 49 61
heredopathia atactica polyneuritiformis 8 43 21 44 49
phytanic acid storage disease 19 22 21 44
refsum syndrome 19 20 21
phytanic acid oxidase deficiency 19 49
adult refsum disease 19 21
refsum's disease 8 21
hmsn type iv 8 21
hmsn 4 43 49
hereditary motor and sensory neuropathy type iv 21
hereditary motor and sensory neuropathy type 4 49
herditary sensory and motor neuropathy type 4 43
hereditary motorsensory neuropathy iv 19
respiratory distress syndrome, adult 61
disorder of cornification 11 43
classic refsum disease 21
retinitis pigmentosa 61
hsmn iv 8
hmsn iv 21
doc 11 43
crd 21
ard 21


External Ids:

Disease Ontology8 DOID:10582
ICD9CM27 356.3
NCIt40 C85043
MeSH35 D012035
SNOMED-CT57 25362006
MESH via Orphanet36 D012035
ICD10 via Orphanet26 G60.1
SNOMED-CT via Orphanet58 25362006
UMLS via Orphanet62 C0034960

Related Diseases for Refsum Disease

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Refsum Disease family:

refsum disease with increased pipecolic acidemia refsum disease, adult, with increased pipecolicacidemia

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

(show top 50)    (show all 520)
idRelated DiseaseScoreTop Affiliating Genes
1infantile refsum disease31.1PEX6, PEX1, CAT
2refsum disease, infantile form30.5PEX26, PEX2
3zellweger spectrum30.3PEX12, PEX1, PEX13, PEX26, PEX19, PEX16
4zellweger syndrome30.3PEX26, PEX19, PEX16, PHYH, HADHB, GNPAT
5neonatal adrenoleukodystrophy30.2PEX6, PEX10, PEX5, PEX1, CAT
6rhizomelic chondrodysplasia punctata30.2CAT, GNPAT, HADHB, PHYH, PEX7
7adrenoleukodystrophy30.2PEX26, GNPAT, CAT, AMACR, HADHB, EHHADH
8tuberculosis30.0AMACR
9retinitis pigmentosa autosomal recessive11.0
10usher syndrome10.7
11cystoid macular edema10.7
12leber congenital amaurosis10.6
13neuropathy ataxia retinitis pigmentosa syndrome10.6
14rhyns syndrome10.6
15adult respiratory distress syndrome10.6
16stargardt disease10.6
17adult syndrome10.5
18posterior column ataxia with retinitis pigmentosa10.5
19hereditary neuropathies10.5
20retinitis pigmentosa 1710.5
21retinitis pigmentosa 210.5
22retinitis pigmentosa 1910.5
23macular dystrophy10.5
24autosomal dominant disease10.4
25autosomal recessive disease10.4
26posterior column ataxia10.4
27retinitis pigmentosa, digenic10.4
28usher syndrome type i10.4
29retinitis pigmentosa 310.4
30muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus10.4
31retinitis pigmentosa 1110.4
32retinitis pigmentosa, juvenile10.4
33x-linked intellectual disability-retinitis pigmentosa syndrome10.4
34retinitis pigmentosa 410.4
35retinitis pigmentosa 610.4
36retinitis pigmentosa 710.4
37polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract10.4
38mental retardation10.4
39rho-related retinitis pigmentosa10.4
40bardet-biedl syndrome10.3
41nephronophthisis10.3
42spastic quadriplegia retinitis pigmentosa mental retardation10.3
43retinitis pigmentosa 4110.3
44retinitis pigmentosa 1310.3
45retinitis pigmentosa 1410.3
46retinitis pigmentosa 1810.3
47retinitis pigmentosa 2010.3
48retinitis pigmentosa 2510.3
49retinitis pigmentosa 2610.3
50retinitis pigmentosa 2910.3

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



Diseases related to refsum disease

Clinical Features for Refsum Disease

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

266500,266510,614879

Clinical synopsis from OMIM:

266500

Symptoms:

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

Drugs & Therapeutics for Refsum Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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 UMLS61/NDF-RT41:

Genetic Tests for Refsum Disease

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Refsum Disease:

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

Anatomical Context for Refsum Disease

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Refsum Disease:

33
Skin, Liver, Brain, Cortex, Cerebellum, Retina, Heart, Monocytes

Animal Models for Refsum Disease or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Refsum Disease:

37
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

Sources:
51PubMed
See all sources

Articles related to Refsum Disease:

(show top 50)    (show all 86)
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
Medical-dental findings and management of a child with infantile Refsum disease: a case report. (22591434)
2012
3
Infantile refsum disease with enamel defects: a case report. (21703082)
2011
4
The effectiveness of long-term dietary therapy in the treatment of adult Refsum disease. (20547622)
2010
5
Adult Refsum disease: a form of tapetoretinal dystrophy accessible to therapy. (20850855)
2010
6
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
7
Refsum disease due to the splice-site mutation c.135-2A>G before exon 3 of the PHYH gene, diagnosed eight years after detection of retinitis pigmentosa. (17905308)
2008
8
Midlife diagnosis of Refsum disease in siblings with retinitis pigmentosa -- the footprint is the clue: a case report. (18336720)
2008
9
Peroxisomes, Refsum's disease and the alpha- and omega-oxidation of phytanic acid. (17956234)
2007
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
CYP4 isoform specificity in the omega-hydroxylation of phytanic acid, a potential route to elimination of the causative agent of Refsum's disease. (16707724)
2006
14
Orthotopic liver transplantation from a living-related donor in an infant with a peroxisome biogenesis defect of the infantile Refsum disease type. (15902563)
2005
15
Infantile Refsum disease: serial evaluation with MRI. (15480616)
2005
16
Structure of human phytanoyl-CoA 2-hydroxylase identifies molecular mechanisms of Refsum disease. (16186124)
2005
17
Omega-hydroxylation of phytanic acid in rat liver microsomes: implications for Refsum disease. (15102880)
2004
18
Identification of PEX7 as the second gene involved in Refsum disease. (14713215)
2003
19
Further studies on the substrate spectrum of phytanoyl-CoA hydroxylase: implications for Refsum disease? (12923223)
2003
20
Infantile refsum disease: case report. (14625237)
2003
21
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
22
Cardiac Characteristics of Transgenic Mice Overexpressing Refsum Disease Gene-Associated Protein within the Heart. (11527414)
2001
23
Structure-function analysis of phytanoyl-CoA 2-hydroxylase mutations causing Refsum's disease. (11555634)
2001
24
Identification of genetic heterogeneity in Refsum's disease. (10951529)
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
Phytanoyl-coenzyme A hydroxylase deficiency -- the enzyme defect in Refsum's disease. (9221344)
1997
31
Infantile Refsum disease: neonatal cholestatic jaundice presentation of a peroxisomal disorder. (7533834)
1995
32
Axonal neuropathy and late detection of Refsum's disease. (7538630)
1995
33
Phytanic acid alpha-oxidase deficiency (Refsum disease) presenting in infancy. (7526031)
1994
34
Pseudo infantile Refsum's disease: catalase-deficient peroxisomal particles with partial deficiency of plasmalogen synthesis and oxidation of fatty acids. (7510868)
1993
35
Refsum disease: a defect in the alpha-oxidation of phytanic acid in peroxisomes. (7504046)
1993
36
Plasma lipoproteins and monocyte-macrophages in a peroxisome-deficient system: study of a patient with infantile refsum disease. (1279267)
1992
37
Refsum disease: the presentation and ophthalmic aspects of Refsum disease in a series of 23 patients. (1282471)
1992
38
In vivo study of phytanic acid alpha-oxidation in classic Refsum's disease and chondrodysplasia punctata. (1282700)
1992
39
Infantile refsum disease: gastrointestinal presentation of a peroxisomal disorder. (1374125)
1992
40
Infantile Refsum disease. (1722385)
1991
41
A case of Refsum disease with atypical clinical picture in family members. (2477346)
1989
42
Peroxisomal integral membrane proteins in livers of patients with Zellweger syndrome, infantile Refsum's disease and X-linked adrenoleukodystrophy. (2468817)
1988
43
Polarizing inclusions in some organs of children with congenital peroxisomal diseases (Zellweger's, Refsum's, chondrodysplasia punctata (rhizomelic form), X-linked adrenoleukodystrophy). (2468818)
1988
44
Infantile Refsum disease: an inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleukodystrophy. (2445576)
1987
45
Biosynthesis and maturation of peroxisomal beta-oxidation enzymes in fibroblasts in relation to the Zellweger syndrome and infantile Refsum disease. (2426710)
1986
46
More on Zellweger's syndrome, infantile Refsum's disease, and rhizomelic chondrodysplasia punctata. (2427949)
1986
47
Refsum disease--the effect of diet. (2417395)
1985
48
Refsum disease. Clinical and morphological report on a case. (6186632)
1982
49
Therapeutic trial of plasmapheresis in Refsum disease and in Fabry disease. (6160883)
1980
50
Neurological diseases as reflections of general metabolic disturbances (Wilson's disease, Refsum's disease and metachromatic leukodystrophy). (65341)
1976

Genetic Variations for Refsum Disease

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Refsum Disease:

63 (show all 16)
id Symbol AA change Variation SNP ID
1PHYHp.Asn269HisVAR_005525
2PHYHp.Arg275TrpVAR_005526rs28939671
3PHYHp.Pro29SerVAR_017482rs28938169
4PHYHp.Pro173SerVAR_017483
5PHYHp.Gln176LysVAR_017484rs28939672
6PHYHp.Asp177GlyVAR_017485
7PHYHp.Trp193ArgVAR_017486
8PHYHp.Glu197GlnVAR_017487
9PHYHp.Ile199PheVAR_017488
10PHYHp.Gly204SerVAR_017489rs28939673
11PHYHp.His220TyrVAR_017490
12PHYHp.Arg245GlnVAR_017491rs62619919
13PHYHp.Phe257SerVAR_017492
14PHYHp.Arg275GlnVAR_017493rs28939674
15PHYHp.Asn83TyrVAR_018619
16PHYHp.His175ArgVAR_018631

Expression for genes affiliated with Refsum Disease

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 30KEGG, 38NCBI BioSystems Database
See all sources

Compounds for genes affiliated with Refsum Disease

Sources:
45Novoseek, 29IUPHAR, 24HMDB, 11DrugBank
See all sources

Compounds related to Refsum Disease according to GeneCards/GeneDecks:

(show all 21)
idCompoundScoreTop Affiliating Genes
1lignoceric acid4510.4GNPAT, HADHB
2trimetazidine4510.4HADHB, CAT
3pristanic acid45 29 2412.3AMACR, GNPAT, EHHADH
43-oxoacyl-coa4510.3ACAA1, EHHADH, GNPAT
5benzoyl-coa45 2411.3HADHB, ACAA1
63-methylcrotonyl-coa45 2411.3HADHB, EHHADH, ACAA1
7(3S)-3-Hydroxyadipyl-CoA2410.3HADHB, EHHADH
8phytanic acid4510.2AMACR, 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
15citrate4510.1HADHB, CAT, AMACR
162-methylbutyryl-coa45 2411.0GNPAT, HADHB, ACAA1
17fatty acid4510.0AMACR, GNPAT, HADHB, PHYH, EHHADH, PEX7
18octanoyl-coa45 2410.9ACAA1, HADHB, GNPAT
19acyl-coa459.8PEX6, PEX5, SLC25A17, EHHADH, HADHB, GNPAT
20lipid459.8AMACR, CAT, GNPAT, HADHB, PHYH, PEX1
21stearoyl-coa45 2410.7GNPAT, HADHB, ACAA1

GO Terms for genes affiliated with Refsum Disease

Sources:
16Gene Ontology
See all sources

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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  • Lysates
  • Antibodies

Sources for Refsum Disease

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet