WS
MCID: WRN001
MIFTS: 75

Werner Syndrome (WS) malady

Eye diseases, Skin diseases, Fetal diseases, Cancer diseases categories

Summaries for Werner Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 Werner's syndrome is a disease chiefly characterized by premature aging and cancer predisposition. development is typically normal until the end of the first decade; the first sign is the lack of a growth spurt during puberty. early signs (usually in the 20s) include loss and graying of hair, hoarseness, and scleroderma-like skin changes, followed by cataracts, type 2 diabetes mellitus, hypogonadism, skin ulcers, and osteoporosis in the 30s. myocardial infarction (heart attack) and cancer are the most common causes of death, which typically occurs in the late 40s. it is caused by mutations in the wrn gene and is inherited in an autosomal recessive manner. management focuses on treatment of signs and symptoms and prevention of secondary complications. last updated: 4/29/2011

MalaCards: Werner Syndrome, also known as werner's syndrome, is related to progeria and rapadilino syndrome, and has symptoms including digestive neoplasm/tumor/carcinoma/cancer, oral cavity/tongue neoplasm/tumor/carcinoma/cancer and oropharyngeal neoplasm/tumor/carcinoma/cancer. An important gene associated with Werner Syndrome is WRN (Werner syndrome, RecQ helicase-like), and among its related pathways are Nucleotide Excision Repair and Homologous recombination. The compounds methylmethanesulfonate and hydroxyurea have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and thyroid, and related mouse phenotypes are cellular and mortality/aging.

Genetics Home Reference:21 Werner syndrome is characterized by the dramatic, rapid appearance of features associated with normal aging. Individuals with this disorder typically grow and develop normally until they reach puberty. Affected teenagers usually do not have a growth spurt, resulting in short stature. The characteristic aged appearance of individuals with Werner syndrome typically begins to develop when they are in their twenties and includes graying and loss of hair; a hoarse voice; and thin, hardened skin. They may also have a facial appearance described as "bird-like." Many people with Werner syndrome have thin arms and legs and a thick trunk due to abnormal fat deposition.

Wikipedia:63 Werner syndrome (WS), also known as \"adult progeria\", is a rare, autosomal recessiveprogeroid syndrome... more...

Description from OMIM:46 277700

GeneReviews summary for werner

Aliases & Classifications for Werner Syndrome

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

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


Characteristics (Orphanet epidemiological data):

48
werner syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Adolescence / Young adulthood


Aliases & Descriptions:

werner syndrome 8 9 19 42 21 46 10 44 48 60
werner's syndrome 8 42 20 22 21
adult progeria 8 21 48
ws 8 21 48
adult premature ageing syndrome 8
adult premature aging syndrome 21
werners syndrome 21
wrn 42


External Ids:

Disease Ontology8 DOID:5688
OMIM46 277700
MeSH34 D014898
NCIt39 C3447
MESH via Orphanet35 D014898
ICD10 via Orphanet26 E34.8
SNOMED-CT via Orphanet57 51626007
UMLS via Orphanet61 C0043119

Related Diseases for Werner Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Werner Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 110)
idRelated DiseaseScoreTop Affiliating Genes
1progeria30.8LMNA, WRN, HELLS
2rapadilino syndrome30.4WRN, RECQL, RECQL4, RECQL5
3bloom syndrome30.3TERF2, RAD54L, RECQL5, RECQL4, RECQL, BLM
4ataxia telangiectasia30.3RPA1, HELLS, WRN, BLM, TERF2
5nijmegen breakage syndrome30.2TERF2, BLM, WRN, RPA1
6rothmund-thomson syndrome30.2HELLS, WRN, BLM, RECQL, RECQL4, RECQL5
7multiple sclerosis30.0RPA1
8xeroderma pigmentosum29.9RPA1, HELLS, FEN1, RECQL, RAD54L
9leukemia29.9RPA1, HELLS, GYPA, POLB, DNASE1, RECQL4
10breast cancer29.9RPA1, HELLS, FEN1, WRN, POLB, DNASE1
11pancreatic cancer29.9DNASE1
12cataract29.9WRN, RECQL4
13williams syndrome10.5
14adult syndrome10.4
15n syndrome10.4
16atypical werner syndrome10.4
17waardenburg syndrome type i10.3
18meningioma10.3
19waardenburg syndrome type 310.2
20waardenburg syndrome type 2a10.2
21waardenburg syndrome type iva10.2
22spondylosis10.2
23senile cataract10.2
24colorectal cancer10.2
25down syndrome10.2
26osteosarcoma10.2
27coronary artery disease10.1
28fanconi syndrome10.1
29hyperglycemia10.1
30sarcoma10.1
31thyroiditis10.1
32chronic myeloid leukemia10.1
33adenocarcinoma10.1
34esophageal cancer10.1
35esophagitis10.1
36gastric adenocarcinoma10.1
37myeloid leukemia10.1
38prostate cancer10.1
39prostatitis10.1
40bile reflux10.1
41waardenburg syndrome type 210.1
42waardenburg syndrome type ivb10.1
43waardenburg syndrome type ivc10.1
44waardenburg syndrome type iid10.1
45waardenburg syndrome, type 2e, with or without neurologic involvement10.1
46non-hodgkin lymphoma10.0
47protein s deficiency10.0
48diffuse large b-cell lymphoma10.0
49cervical cancer10.0
50cervicitis10.0

Graphical network of the top 20 diseases related to Werner Syndrome:



Diseases related to werner syndrome

Clinical Features for Werner Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

277700

Clinical synopsis from OMIM:

277700

Symptoms:

48 (show all 56)
  • digestive neoplasm/tumor/carcinoma/cancer
  • oral cavity/tongue neoplasm/tumor/carcinoma/cancer
  • oropharyngeal neoplasm/tumor/carcinoma/cancer
  • neoplasms/tumors
  • restricted joint mobility/joint stiffness/ankylosis
  • cerebral vascular anomalies
  • precocious menopause/secondary amenorrhea
  • chronic arterial hypertension
  • laryngomalacia
  • small bowel neoplasm/tumor/carcinoma/cancer
  • lung/bronchopulmonary neoplasm/tumor/carcinoma/cancer
  • pili torti
  • autosomal dominant inheritance
  • meningioma
  • sarcoma
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)
  • thyroid neoplasm/tumor/carcinoma/cancer
  • kidney/renal neoplasm/tumor/carcinoma/cancer
  • ovary/fallopian tube neoplasm/tumor/carcinoma/cancer (excl. teratoma/germinoma)
  • breast neoplasm/tumor/carcinoma/cancer
  • abnormal fat distribution/lipodystrophy
  • periarticular tissue anomaly/extraarticular calcifications
  • osteosclerosis/osteopetrosis/bone condensation
  • pes talus
  • small hand/acromicria
  • retinitis pigmentosa/retinal pigmentary changes
  • narrow face
  • premature ageing
  • short stature/dwarfism/nanism
  • autosomal recessive inheritance
  • arterial atheroma/precocious atherosclerosis/arteriosclerosis
  • abnormal fall of hair
  • white forelock/piebaldism
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • lipoatrophy
  • global upper and lower limbs anomalies
  • anomalies of chest/thorax/trunk
  • beaked nose
  • skin hypoplasia/aplasia/atrophy
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • late puberty/hypogonadism/hypogenitalism
  • diabetes mellitus
  • sterility/hypofertility
  • small/atrophic/hypoplastic testes/monorchism/microorchidism/anorchia
  • testis anomalies
  • arterial pulse abolition
  • heart/cardiac failure
  • angor pectoris/myocardial infarction
  • pulmonary artery stenosis/absence/hypoplasia of the pulmonary branches
  • abnormal cry/voice/phonation disorder/nasal speech
  • telangiectasiae of the skin
  • tight skin/lack of elasticity
  • chronic skin infection/ulcerations/ulcers/cancrum
  • cataract/lens opacification

Drugs & Therapeutics for Werner Syndrome

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

Search CenterWatch for Werner Syndrome

Drug clinical trials:

Search ClinicalTrials for Werner Syndrome

Search NIH Clinical Center for Werner Syndrome

Search CenterWatch for Werner Syndrome

Genetic Tests for Werner Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Werner Syndrome:

id Genetic test Affiliating Genes
1 Werner Syndrome20 22 WRN

Anatomical Context for Werner Syndrome

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32MalaCards
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MalaCards organs/tissues related to Werner Syndrome:

32
Skin, Heart, Thyroid, Breast, Lung, Kidney, Ovary, Eye, Bone, Testes, Testis, Tongue, Uterus, Liver

Animal Models for Werner Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Werner Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538410.5TERF2, RPA1, EXO1, HELLS, FEN1, WRN
2MP:001076810.5TREX1, WRN, FEN1, HELLS, EXO1, RPA1
3MP:001077110.5RECQL4, BLM, POLB, TREX1, WRN
4MP:000538710.5RPA1, EXO1, HELLS, FEN1, WRN, TREX1
5MP:000539710.4RPA1, EXO1, HELLS, FEN1, TREX1, POLB
6MP:000200610.2RPA1, BLM, RECQL4

Publications for Werner Syndrome

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50PubMed
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Articles related to Werner Syndrome:

(show top 50)    (show all 433)
idTitleAuthorsYear
1
DNA damage accumulation and TRF2 degradation in atypical Werner syndrome fibroblasts with LMNA mutations. (23847654)
2013
2
Diagnostic criteria for Werner syndrome based on Japanese nationwide epidemiological survey. (22817610)
2013
3
The Werner syndrome helicase protein is required for cell proliferation, immortalization, and tumorigenesis in Scaffold attachment factor B1 deficient mice. (21464516)
2011
4
The DNA repair endonuclease XPG interacts directly and functionally with the WRN helicase defective in Werner syndrome. (21558802)
2011
5
Mitochondrial dysfunction in some oxidative stress-related genetic diseases: Ataxia-Telangiectasia, Down Syndrome, Fanconi Anaemia and Werner Syndrome. (20237955)
2010
6
Werner syndrome gene variants in human sarcomas. (19824023)
2010
7
Werner syndrome resembles normal aging. (19633413)
2009
8
A polymorphism in Werner syndrome gene is associated with breast cancer susceptibility in Chinese women. (19205873)
2009
9
Mechanism and substrate specificity of telomeric protein POT1 stimulation of the Werner syndrome helicase. (18583366)
2008
10
Early amelioration of insulin resistance and reduction of interleukin-6 in Werner syndrome using pioglitazone. (18184212)
2008
11
Microwave-assisted synthesis of 5-aminopyrazol-4-yl ketones and the p38(MAPK) inhibitor RO3201195 for study in Werner syndrome cells. (18539026)
2008
12
Synthesis and in vivo activity of MK2 and MK2 substrate-selective p38alpha(MAPK) inhibitors in Werner syndrome cells. (17964780)
2007
13
The role of cellular senescence in Werner syndrome: toward therapeutic intervention in human premature aging. (17460211)
2007
14
Length-dependent degradation of single-stranded 3' ends by the Werner syndrome protein (WRN): implications for spatial orientation and coordinated 3' to 5' movement of its ATPase/helicase and exonuclease domains. (16503984)
2006
15
Management and outcome of patients with combined vaginal septum, bifid uterus, and ipsilateral renal agenesis (Herlyn-Werner-Wunderlich syndrome). (16677898)
2006
16
Werner Syndrome, aging and cancer. (18724062)
2006
17
Analyses of the interaction of WRNIP1 with Werner syndrome protein (WRN) in vitro and in the cell. (16769258)
2006
18
Pathways and functions of the Werner syndrome protein. (15610765)
2005
19
In vivo misregulation of genes involved in apoptosis, development and oxidative stress in mice lacking both functional Werner syndrome protein and poly(ADP-ribose) polymerase-1. (16195394)
2005
20
Multiple involvement of oxidative stress in Werner syndrome phenotype. (16333757)
2005
21
Soft-tissue mineralization in Werner syndrome. (15138723)
2005
22
Telomere shortening exposes functions for the mouse Werner and Bloom syndrome genes. (15367665)
2004
23
Werner syndrome protein 1367 variants and disposition towards coronary artery disease in Caucasian patients. (15246744)
2004
24
Camptothecin sensitivity in Werner syndrome fibroblasts as assessed by the COMET technique. (15247024)
2004
25
Expression of Werner and Bloom syndrome genes is differentially regulated by in vitro HIV-1 infection of peripheral blood mononuclear cells. (15498034)
2004
26
Biochemical characterization of an exonuclease from Arabidopsis thaliana reveals similarities to the DNA exonuclease of the human Werner syndrome protein. (12937173)
2003
27
Telomere-based proliferative lifespan barriers in Werner-syndrome fibroblasts involve both p53-dependent and p53-independent mechanisms. (12615976)
2003
28
Biochemical characterization of the DNA substrate specificity of Werner syndrome helicase. (11956187)
2002
29
Werner syndrome diploid fibroblasts are sensitive to 4-nitroquinoline-N-oxide and 8-methoxypsoralen: implications for the disease phenotype. (11978740)
2002
30
Diagnosis of Werner syndrome by immunoblot analysis. (11952711)
2002
31
Werner syndrome in a korean man. (12145260)
2002
32
DNase I footprinting and enhanced exonuclease function of the bipartite Werner syndrome protein (WRN) bound to partially melted duplex DNA. (11717307)
2002
33
Werner syndrome protein interacts with human flap endonuclease 1 and stimulates its cleavage activity. (11598021)
2001
34
The Werner syndrome gene and global sequence variation. (11161804)
2001
35
Spectral karyotyping of Werner syndrome fibroblast cultures. (11173853)
2000
36
Association of impaired phosphatidylinositol 3-kinase activity in GLUT1-containing vesicles with malinsertion of glucose transporters into the plasma membrane of fibroblasts from a patient with severe insulin resistance and clinical features of Werner syndrome. (10690909)
2000
37
Enhanced 2-deoxy-D-ribose-induced-apoptosis, a phenotype of lymphocytes from old donors, is not observed in the Werner syndrome. (10978682)
2000
38
Functional interaction between Ku and the werner syndrome protein in DNA end processing (11112792)
2000
39
Werner syndrome protein. I. DNA helicase and dna exonuclease reside on the same polypeptide. (9852073)
1998
40
Cloning of a mouse homologue of the human Werner syndrome gene and assignment to 8A4 by fluorescence in situ hybridization. (9143515)
1997
41
Integrated map of the chromosome 8p12-p21 region, a region involved in human cancers and Werner syndrome. (8786118)
1996
42
Regulation of c-fos expression in senescing Werner syndrome fibroblasts differs from that observed in senescing fibroblasts from normal donors. (7822435)
1995
43
Immortalization of Werner syndrome and progeria fibroblasts. (1671011)
1991
44
Osteosclerosis of the phalanges in Werner syndrome. (2772198)
1989
45
Bladder carcinoma with Werner syndrome. (3672688)
1987
46
Genetics and aging; the Werner syndrome as a segmental progeroid syndrome. (3909765)
1985
47
Age-related changes in auto- and natural antibody in the Werner syndrome. (6978613)
1982
48
Systematic growth studies, cocultivation, and cell hybridization studies of Werner syndrome cultured skin fibroblasts. (7327553)
1981
49
Thermolabile enzymes in progeria and Werner syndrome: evidence contrary to the protein error hypothesis. (6930821)
1980
50
Chromatid exchanges in ataxia telangiectasia, Bloom syndrome, Werner syndrome, and xeroderma pigmentosum. (962324)
1976

Genetic Variations for Werner Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Werner Syndrome:

62
id Symbol AA change Variation ID SNP ID
1WRNp.Lys125AsnVAR_026588
2WRNp.Lys135GluVAR_026589

Expression for genes affiliated with Werner Syndrome

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

Search GEO for disease gene expression data for Werner Syndrome.

Pathways for genes affiliated with Werner Syndrome

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53Reactome, 37NCBI BioSystems Database, 29KEGG, 51QIAGEN, 4Cell Signaling Technology
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Compounds for genes affiliated with Werner Syndrome

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44Novoseek, 49PharmGKB, 11DrugBank, 28IUPHAR, 24HMDB, 59Tocris Bioscience
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Compounds related to Werner Syndrome according to GeneCards/GeneDecks:

(show all 21)
idCompoundScoreTop Affiliating Genes
1methylmethanesulfonate4410.8RPA1, HELLS, FEN1, WRN, POLB, BLM
2hydroxyurea44 49 1112.8RPA1, HELLS, WRN, BLM, DNASE1, RECQL4
3atp44 2811.8RAD54L, RPA1, EXO1, HELLS, FEN1, WRN
4magnesium44 11 2412.8HELLS, FEN1, WRN, TREX1, POLR1C, POLB
5cisplatin44 49 59 1113.8RPA1, HELLS, FEN1, WRN, POLR1C, POLB
6phosphodiester4410.8POLR1C, POLB, DNASE1
78-oxoguanine4410.8POLB, WRN, HELLS
8oligonucleotide4410.8RPA1, EXO1, HELLS, FEN1, GYPA, TREX1
9camptothecin44 59 1112.7DNASE1, BLM, WRN, RPA1
10thymine44 2411.7HELLS, POLB, DNASE1
118-hydroxyadenine4410.7WRN, HELLS
12arginine4410.7HELLS, FEN1, WRN, GYPA, POLB, LMNA
13nacl4410.6RPA1, HELLS, DNASE1, DHX9
14alanine4410.6HELLS, FEN1, GYPA, POLB, DNASE1, LMNA
15mgcl24410.6DNASE1, HELLS
16dttp4410.6HELLS, POLB
17thymidylate4410.5POLB, HELLS, RPA1
18deoxyadenosine44 2411.5HELLS, DNASE1
19zinc44 2411.5LMNA, DNASE1, POLR1C, HELLS, RPA1
20polynucleotide4410.4POLB, WRN
21adenine44 11 2412.2HELLS, POLB, DNASE1

GO Terms for genes affiliated with Werner Syndrome

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16Gene Ontology
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Cellular components related to Werner Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:00563410.5TERF2, RPA1, PURG, EXO1, HELLS, FEN1
2nucleoplasmGO:00565410.5RPA1, FEN1, WRN, POLR1C, POLB, RECQL5
3nuclear envelopeGO:00563510.5LMNA, DNASE1, TREX1
4nucleolusGO:00573010.4RPA1, FEN1, WRN, WRNIP1, BLM, RECQL
5lateral elementGO:00080010.4RPA1, BLM
6male germ cell nucleusGO:00167310.2BLM, RPA1

Biological processes related to Werner Syndrome according to GeneCards/GeneDecks:

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1DNA recombinationGO:00631010.8RAD54L, RPA1, EXO1, WRN, TREX1, BLM
2DNA strand renaturationGO:00073310.8BLM, RECQL, RECQL4, RAD54L
3DNA repairGO:00628110.8RPA1, EXO1, FEN1, TREX1, POLB, BLM
4telomere maintenanceGO:00072310.8TERF2, BLM, WRN, FEN1, RPA1
5DNA replicationGO:00626010.8RPA1, FEN1, WRN, WRNIP1, TREX1, RECQL
6DNA duplex unwindingGO:03250810.8WRN, RECQL, RECQL4, RECQL5
7base-excision repairGO:00628410.8POLB, WRN, FEN1
8DNA metabolic processGO:00625910.7RECQL5, TREX1, WRN
9meiosisGO:00712610.7RPA1, EXO1, RAD54L
10double-strand break repair via homologous recombinationGO:00072410.7RAD54L, BLM, RPA1
11double-strand break repairGO:00630210.7WRN, FEN1, RPA1
12replication fork processingGO:03129710.7BLM, WRN
13positive regulation of type I interferon productionGO:03248110.7TREX1, POLR1C, DHX9
14ATP catabolic processGO:00620010.6BLM, WRNIP1, WRN
15DNA synthesis involved in DNA repairGO:00073110.6WRNIP1, WRN
16DNA-dependent DNA replicationGO:00626110.5RPA1, POLB
17mismatch repairGO:00629810.5TREX1, EXO1
18telomere maintenance via recombinationGO:00072210.5FEN1, RPA1
19nucleotide-excision repair, DNA gap fillingGO:00629710.4POLB, RPA1
20telomere maintenance via semi-conservative replicationGO:03220110.2FEN1, RPA1

Molecular functions related to Werner Syndrome according to GeneCards/GeneDecks:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1ATP-dependent 3-5 DNA helicase activityGO:04314010.8RECQL4, RECQL, BLM, WRN
2bubble DNA bindingGO:00040510.8WRN, BLM, RECQL4
3ATP-dependent DNA helicase activityGO:00400310.8DHX9, RECQL, BLM, WRN
4helicase activityGO:00438610.8RAD54L, BLM, WRN, HELLS
5exonuclease activityGO:00452710.7EXO1, FEN1, WRN
6four-way junction helicase activityGO:00937810.7BLM, WRN
7DNA bindingGO:00367710.7FEN1, HELLS, EXO1, PURG, WRN, WRNIP1
8ATP bindingGO:00552410.7HELLS, WRN, WRNIP1, BLM, RECQL, RECQL4
9DNA helicase activityGO:00367810.7RECQL5, RECQL, WRN
10G-quadruplex DNA bindingGO:05188010.6BLM, WRN
11protein bindingGO:00551510.6WRNIP1, WRN, FEN1, HELLS, EXO1, RPA1
12annealing helicase activityGO:03631010.6RAD54L, BLM
13single-stranded DNA bindingGO:00369710.5RPA1, TREX1, BLM
143-5 exonuclease activityGO:00840810.5TREX1, WRN
15ribonuclease H activityGO:00452310.5FEN1, EXO1
165-3 exonuclease activityGO:00840910.4FEN1, EXO1
17ATPase activityGO:01688710.2WRN, WRNIP1, BLM

Products for genes affiliated with Werner Syndrome

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Sources for Werner Syndrome

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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