TS
MCID: TRN020
MIFTS: 71

Turner Syndrome (TS) malady

Genetic, Eye, Nephrological, Reproductive, Endocrine, Fetal categories

Summaries for Turner Syndrome

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 34MedlinePlus, 64Wikipedia, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MedlinePlus:34 Turner syndrome is a genetic disorder that affects a girl's development. the cause is a missing or incomplete x chromosome. girls who have it are short, and their ovaries don't work properly. other physical features typical of turner syndrome are short, "webbed" neck with folds of skin from tops of shoulders to sides of neck low hairline in the back low-set ears swollen hands and feet most women with turner syndrome are infertile. they are at risk for health difficulties such as high blood pressure, kidney problems, diabetes, cataracts, osteoporosis, and thyroid problems. doctors diagnose turner syndrome based on symptoms and a genetic test. sometimes it is found in prenatal testing. there is no cure for turner syndrome, but there are some treatments for the symptoms. growth hormone often helps girls reach heights that are close to average. hormone replacement can help start sexual development. assisted reproduction techniques can help some women with turner syndrome get pregnant. nih: national institute of child health and human development

MalaCards: Turner Syndrome, also known as monosomy x, is related to swyer syndrome and noonan syndrome, and has symptoms including intellectual deficit/mental/psychomotor retardation/learning disability, ptosis and pigmented naevi/naevus pigmentosus/lentigo. An important gene associated with Turner Syndrome is SHOX (short stature homeobox), and among its related pathways are Endochondral Ossification and Development IGF-RI signaling. The compounds estrogen and dehydroepiandrosterone sulfate have been mentioned in the context of this disorder. Affiliated tissues include skin, ovary and liver.

Genetics Home Reference:21 Turner syndrome is a chromosomal condition that affects development in females. The most common feature of Turner syndrome is short stature, which becomes evident by about age 5. An early loss of ovarian function (ovarian hypofunction or premature ovarian failure) is also very common. The ovaries develop normally at first, but egg cells (oocytes) usually die prematurely and most ovarian tissue degenerates before birth. Many affected girls do not undergo puberty unless they receive hormone therapy, and most are unable to conceive (infertile). A small percentage of females with Turner syndrome retain normal ovarian function through young adulthood.

NIH Rare Diseases:43 Turner syndrome is a chromosomal disorder that usually affects development in females. symptoms differ among individuals, but may include shortened stature, infertility, extra skin on the neck (webbed neck), puffiness or swelling (lymphedema) of the hands and feet, skeletal abnormalities, heart defects, and kidney problems. females without turner syndrome have 2 full x chromosomes in each of their cells. an individual with turner syndrome is missing all or part of one x chromosome. although it is genetic, it is typically not inherited. treatment may include growth hormone therapy for short stature and estrogen therapy to help stimulate sexual development. assisted reproduction techniques can help some women with turner syndrome become pregnant. last updated: 6/18/2012

Wikipedia:64 Turner syndrome or Ullrich–Turner syndrome (also known as \"Gonadal dysgenesis\"), 45,X, encompasses... more...

Aliases & Classifications for Turner Syndrome

Sources:
43NIH Rare Diseases, 61UMLS, 8Disease Ontology, 64Wikipedia, 21Genetics Home Reference, 10DISEASES, 49Orphanet, 34MedlinePlus, 22GTR, 45Novoseek, 40NCIt, 57SNOMED-CT, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic, Fetal
Anatomical: Eye, Nephrological, Reproductive, Endocrine


Characteristics (Orphanet epidemiological data):

49
turner syndrome:
Inheritance: Sporadic; Prevalence: 1-5/10000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

turner syndrome 8 64 43 21 10 49 34 61
monosomy x 8 64 21 49
bonnevie-ullrich syndrome 8 64 61
turner's syndrome 64 22 21
ullrich-turner syndrome 64 21
gonadal dysgenesis 43 61
45,x 64 21
ts 64 21
gonadal dysgenesis turner type 43
bonnevie-ullrich syndrome nos 8
schereshevkii turner syndrome 43
gonadal dysgenesis - turner 8
bonnevie-ulrich syndrome 43
chromosome x monosomy x 43
turner's syndrome nos 8
monosomy x syndrome 8
45,x/46,xx syndrome 49
turners syndrome 45
karyotype 45, x 8
45, x syndrome 43
45,x syndrome 49
xo syndrome 8


External Ids:

Disease Ontology8 DOID:3491
MESH via Orphanet36 D014424
ICD10 via Orphanet26 Q96, Q96.0
SNOMED-CT via Orphanet58 38804009
UMLS via Orphanet62 C0041408
ICD1025 Q96.0

Related Diseases for Turner Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Turner Syndrome family:

pseudo-turner syndrome turner syndrome due to structural x chromosome anomalies

Diseases related to Turner Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 330)
idRelated DiseaseScoreTop Affiliating Genes
1swyer syndrome31.2SRY
2noonan syndrome30.8GHR, IGFBP3, IGF1
3anorexia nervosa30.7IGF1, GH1, SHBG, IGFBP1, IGFBP3, GHR
4short stature30.7CYP21A2, GHR, GH1, SHBG, SHOX, IGFBP1
5growth hormone deficiency30.6IGF1, IGFBP1, GH1, GHR, IGFBP3
6mental retardation30.6GHR, SHBG
7gonadoblastoma30.5TSPY1, SRY, RPS4Y1
8premature ovarian failure30.3BMP15, PAEP, IGFBP3, SHBG
9precocious puberty30.2GHR, CYP21A2, IGF1, GH1, SHBG, IGFBP3
10dysgerminoma30.2TSPY1, SRY
11insulin resistance30.2IGFBP1, GH1, SHBG, IGF1, CYP21A2, IGFBP3
12hyperprolactinemia30.1IGF1, SHBG, GH1, CGB
13infertility30.1IGFBP1, PAEP, CYP21A2, SRY, SHBG, CGB
14germinoma30.1CYP21A2, CGB
15hypospadias30.1SRY, CYP21A2
16metabolic acidosis30.1IGF1
17prolactinoma30.1CGB, IGF1, GH1
18dwarfism30.1SHOX, GHR, IGFBP3, IGF1, GH1
19mixed gonadal dysgenesis30.1CYP21A2, SRY
20prader-willi syndrome29.9GH1, IGF1
21amenorrhea29.9SRY, SHBG, BMP15, IGF1
22thyroiditis29.9SERPINA7
23glucose intolerance29.9SHBG, GH1, IGFBP3, IGFBP1, IGF1
24hyperinsulinism29.9GHR, IGF1, GH1, IGFBP3, IGFBP1, SHBG
25klinefelter's syndrome29.9CYP21A2, SHBG, CGB
26down syndrome29.9CGB, SRY
27acromegaly29.9CGB, IGFBP1, GHR, GH1, SHBG, IGF1
28graves' disease29.9SHBG, CYP21A2, SERPINA7
29hypoglycemia29.9IGFBP1, IGFBP3, IGF1, GH1, GHR
30adenocarcinoma29.9CGB, GHR, IGFBP1, CYP21A2, PAEP
31adenoma29.9CYP21A2, IGF1, IGFBP3, GHR, IGFBP1, PAEP
32hypochondroplasia29.9SHOX
33n syndrome10.9
34parsonage turner syndrome10.8
35adult syndrome10.6
36short syndrome10.6
37young syndrome10.6
38colorectal cancer10.5
39denys-drash syndrome10.5
40char syndrome10.4
41bod syndrome10.4
42frasier syndrome10.4
43wilms tumor10.4
44gonadal dysgenesis, xx type10.4
45ovarian dysgenesis 110.4
46ovarian gonadoblastoma10.4
4746 xy gonadal dysgenesis10.4
4846,xy disorder of sex development and 46,xy complete gonadal dysgenesis10.4
49mayer-rokitansky-kuster-hauser syndrome10.4
50kuster syndrome10.4

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



Diseases related to turner syndrome

Clinical Features for Turner Syndrome

Sources:
49Orphanet
See all sources


Symptoms:

49 (show all 26)
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • ptosis
  • pigmented naevi/naevus pigmentosus/lentigo
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • delayed bone age
  • short stature/dwarfism/nanism
  • late puberty/hypogonadism/hypogenitalism
  • metacarpal anomalies/archibald's sign
  • ectopic/horseshoe/fused kidneys
  • lymphedema
  • wide rib cage/thorax
  • abnormally placed nipples
  • hypoplastic/absent nipples
  • cubitus valgus
  • low hair line (back)
  • hypoplastic aorta/coarctation/stenosis/anomaly/aortic arch interruption
  • abnormal/polycystic ovaries
  • total/partial monosomy/deletion
  • webbed neck/pterygium colli
  • abnormal dermatoglyphics
  • thin/hypoplastic/hyperconvex fingernails
  • thin/hypoplastic toenails
  • precocious menopause/secondary amenorrhea
  • cystic hygroma
  • abnormal scarring/cheloids/hypertrophic scars
  • atrial septal defect/interauricular communication

Drugs & Therapeutics for Turner Syndrome

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

Approved drugs:

Search CenterWatch for Turner Syndrome

Drug clinical trials:

Search ClinicalTrials for Turner Syndrome

Search NIH Clinical Center for Turner Syndrome

Search CenterWatch for Turner Syndrome

Genetic Tests for Turner Syndrome

Sources:
22GTR
See all sources

Genetic tests related to Turner Syndrome:

id Genetic test Affiliating Genes
1 Turner Syndrome22

Anatomical Context for Turner Syndrome

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Turner Syndrome:

33
Skin, Ovary, Liver, Tongue, Brain, Kidney, Uterus, Whole blood, Cortex, Heart, Skeletal muscle, Small intestine, Colon, Thyroid, Salivary gland, Adrenal gland, Breast, Monocytes, T cells, B cells, Endothelial, Fetal brain, Fetal liver, Fetal thyroid, Adrenal cortex, Pituitary, Uterus corpus

Animal Models for Turner Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Turner Syndrome

Sources:
51PubMed
See all sources

Articles related to Turner Syndrome:

(show top 50)    (show all 797)
idTitleAuthorsYear
1
Brain-derived neurotrophic factor plasma levels in patients with Turner syndrome. (24397357)
2014
2
Prevalence of pilomatricoma in Turner syndrome: findings from a multicenter study. (23426075)
2013
3
The Prevalence of Turner Syndrome in Girls Presenting with Coarctation of the Aorta. (24172638)
2013
4
Improving Detection of Hypertension in Girls with Turner Syndrome Using Ambulatory Blood Pressure Monitoring. (24281046)
2013
5
Recurrent vocal fold paralysis and parsonage-turner syndrome. (24288639)
2013
6
Quiz page December 2013: Hypoplastic nails, bowed elbows, and nephrotic syndrome. Nail-patella syndrome (hereditary osteo-onychodysplasia, Turner-Keiser syndrome, Fong disease). (24267390)
2013
7
Implications of a data-driven approach to treatment with growth hormone in children with growth hormone deficiency and Turner syndrome. (23649890)
2013
8
Cognitive impairment and gray/white matter volume abnormalities in pediatric patients with Turner syndrome presenting with various karyotypes. (23846137)
2013
9
Parsonage-Turner syndrome and a localised swelling around the extensor tendons of the hand: a clinical sign indicating increased risk of rupture of the tendon. (22928886)
2012
10
Lymphocyte subpopulations in Chinese women with Turner syndrome. (21898080)
2012
11
Mondini deformity in a case of Turner syndrome. A radiological finding. (21529720)
2012
12
Reduced sebum production in Turner syndrome: a study of twenty-two patients. (21978710)
2011
13
Medical care of girls with Turner Syndrome: where are we lacking? (21454226)
2011
14
Impact of age and duration of growth hormone therapy in children with Turner syndrome. (22156541)
2011
15
Outcomes of spontaneous and assisted pregnancies in Turner syndrome: the U.S. National Institutes of Health experience. (21496813)
2011
16
Social skills in women with Turner Syndrome. (21534980)
2011
17
Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with Turner syndrome. (21752892)
2011
18
OCT4 gonadal gene expression related to the presence of Y-chromosome sequences in Turner syndrome. (20347080)
2010
19
Aortic dissection and moyamoya disease in Turner syndrome. (20635402)
2010
20
Effect of sex hormone treatment on circulating adiponectin and subforms in Turner and Klinefelter syndrome. (20100236)
2010
21
Effects of growth hormone on body proportions in Turner syndrome compared with non-treated patients and normal women. (20354352)
2010
22
Ductus venosus Doppler in screening for trisomies 21, 18 and 13 and Turner syndrome at 11-13 weeks of gestation. (19338027)
2009
23
Pattern of Turner syndrome in Singapore (1999-2004). (19551311)
2009
24
Poor outcome in oocyte donation after elective transfer of a single cleavage-stage embryo in Turner syndrome patients. (18793776)
2009
25
Recurrence of giant juvenile breast fibroadenoma in a girl with Turner's syndrome. (19492586)
2009
26
Brachial neuritis (Parsonnage-Turner syndrome) - a case study. (19211296)
2009
27
Nasal bone length in trisomy 18, triploidy and Turner syndrome analyzed on postmortem radiographs. (19852045)
2009
28
Long-term safety of recombinant human growth hormone in turner syndrome. (18000090)
2008
29
Turner syndrome mosaicism: an unusual case with a de novo large dicentric marker chromosome: mos 45,X/46,X, ter rea(X;X)(p22.3;p22.3). (18670067)
2008
30
Aplastic anemia and Turner syndrome. (18206544)
2008
31
Absence of autoantibodies connected to autoimmune polyendocrine syndrome type I and II and Addison's disease in girls and women with Turner syndrome. (18088406)
2007
32
Cervical radiculopathy vs Parsonage-Turner syndrome: a case report. (18751779)
2007
33
Constrictive pericarditis in a patient with Turner's syndrome and liver cirrhosis: coincidence or part of the syndrome? (16721232)
2006
34
Female pseudohermaphroditism due to classical 21-hydroxylase deficiency and insulin resistance in a girl with Turner syndrome. (16052861)
2005
35
Uterine cervical adenofibroma associated with Turner's syndrome in a young woman. (12410376)
2002
36
Turner syndrome and ganglioneuroma. (10695831)
2000
37
Autoimmune thyroiditis in children with Turner syndrome. (11155770)
2000
38
Serum liver enzymes in Turner syndrome. (10664223)
2000
39
Growth hormone and craniofacial changes: preliminary data from studies in Turner's syndrome. (10506256)
1999
40
Effects of long-term growth hormone therapy on adrenal steroidogenesis in Turner syndrome. (9568804)
1998
41
Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. (9140395)
1997
42
Prepubertal gonadoblastoma in a 46,XY female patient with features of Turner syndrome. (8839718)
1996
43
Y chromosome sequences in Turner's syndrome and risk of gonadoblastoma or virilisation. (7904699)
1994
44
Turner syndrome associated with an omphalocele. (7688121)
1993
45
The somatotropin-somatomedin axis in adult patients with Turner syndrome: measurement of stimulated GH, GH-BP, IGF-I, IGF-II and IGFBP-3 in 25 patients. (7691702)
1993
46
Turner's syndrome occurring with Horner's syndrome. Seen with coarctation of the aorta and aortic aneurysm. (380324)
1979
47
The pattern of shortening of the bones of the hand in PHP and PPHP--A comparison with brachydactyly E, Turner Syndrome, and acrodysostosis. (870942)
1977
48
Lymphatic malformation in human fetuses. A study of fetuses with Turner's syndrome or status Bonnevie-Ullrich. (145719)
1977
49
Virilization superimposed on Turner's syndrome: cytogenetic studies of a gonadal tumor in a patient with XO-XY mixed gonadal dysgenesis. (4683730)
1973
50
Dysgerminoma of the ovary in a patient with Turner's syndrome. (13887114)
1962

Genetic Variations for Turner Syndrome

Expression for genes affiliated with Turner Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Turner Syndrome

Search GEO for disease gene expression data for Turner Syndrome.

Pathways for genes affiliated with Turner Syndrome

Sources:
38NCBI BioSystems Database, 12EMD Millipore, 54Reactome, 30KEGG
See all sources

Compounds for genes affiliated with Turner Syndrome

Sources:
45Novoseek, 11DrugBank, 29IUPHAR, 24HMDB, 50PharmGKB, 60Tocris Bioscience, 2BitterDB
See all sources

Compounds related to Turner Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 105)
idCompoundScoreTop Affiliating Genes
1estrogen4510.8SHOX, SERPINA7, PAEP
2dehydroepiandrosterone sulfate4510.8GHR, IGFBP1, IGFBP3, IGF1, CYP21A2, GH1
3pegvisomant45 1111.8GH1, GHR, IGFBP3, IGF1, IGFBP1
4leuprolide acetate4510.8CYP21A2, IGF1, GHR, GH1, SHBG
5c-peptide4510.8GHR, SHBG, IGFBP1, IGFBP3, GH1, CYP21A2
6lanreotide45 2911.8IGFBP3, IGFBP1, GH1, GHR, IGF1
7acth4510.8IGF1, IGFBP1, SERPINA7, CYP21A2, IGFBP3, GHR
8triiodothyronine4510.8GHR, GH1, SHBG, IGFBP1, SERPINA7, IGFBP3
9dihydrotestosterone45 29 11 2413.8SHBG, IGFBP1, GHR, IGF1, GH1, IGFBP3
10clomiphene citrate4510.8PAEP, IGFBP1, SHBG, GH1, CGB, IGFBP3
11thyroxine45 2411.8IGF1, SHBG, GHR, CGB, IGFBP3, CYP21A2
12oxandrolone45 1111.8IGFBP3, IGF1, SHBG, GH1
13progestins4510.8SERPINA7, PAEP, GH1, SHBG, IGFBP1, IGFBP3
14androstenedione45 2411.8SHBG, GH1, GHR, CGB, IGFBP1, IGF1
15raloxifene45 29 50 1113.8IGF1, SERPINA7, GH1
16deoxypyridinoline4510.8IGFBP3, IGF1, IGFBP1, SHBG, GH1
17dhea4510.8CYP21A2, IGFBP1, SHBG, GH1, IGF1, IGFBP3
18ghrp4510.8IGF1, IGFBP3, GHR, GH1
19gnrh4510.8GH1, SHBG, IGF1, IGFBP1, IGFBP3, CYP21A2
20levonorgestrel45 60 29 1113.8SERPINA7, PAEP, IGFBP3, IGFBP1, SHBG
21estradiol45 11 2412.8SERPINA7, SRY, PAEP, GHR, IGF1, IGFBP1
22estrone45 29 11 2413.8IGFBP3, SERPINA7, IGF1, SHBG, GH1, IGFBP1
23steroid4510.8IGFBP3, IGFBP1, IGF1, CYP21A2, PAEP, SRY
24ribonucleic acid4510.8GHR, GH1, IGFBP1, IGFBP3, IGF1, PAEP
25bromocriptine29 45 1112.8IGF1, GHR, IGFBP3, SHBG, GH1
26progesterone45 60 29 11 2414.8GH1, CYP21A2, CGB, SERPINA7, IGF1, IGFBP3
27hexarelin45 2911.8IGFBP3, IGF1, GH1, GHR
28testosterone45 60 11 2413.8GH1, IGFBP1, IGF1, SERPINA7, SRY, PAEP
29pyridostigmine45 1111.8IGF1, GH1, IGFBP1, IGFBP3
30tamoxifen45 50 29 1113.8PAEP, SHBG, IGF1, IGFBP3, GH1, SERPINA7
31anastrozole45 1111.7IGFBP1, GH1, IGFBP3, SHBG
32buserelin45 29 1112.7PAEP, IGFBP3, IGFBP1, IGF1
33octreotide45 60 29 1113.7IGF1, GH1, IGFBP3, IGFBP1, GHR
34creatinine4510.7SERPINA7, IGF1, IGFBP3, CGB, IGFBP1, SHBG
35cabergoline29 45 1112.7IGFBP3, GH1, GHR, IGF1
36glucose4510.7PAEP, CYP21A2, IGF1, SERPINA7, SHBG, GH1
37calcitriol45 60 11 2413.7IGFBP3, IGF1, GH1, GHR, SHBG, IGFBP1
38progestin4510.7PAEP, IGFBP1, SHBG, IGF1, IGFBP3
39chloramphenicol45 2 1112.6CYP21A2, IGFBP3, GH1, IGFBP1, SERPINA7, GHR
40cholesterol45 29 11 2413.6PAEP, CYP21A2, GHR, SERPINA7, SHBG, IGFBP1
41prednisolone45 29 1112.6IGFBP3, IGFBP1, SHBG, CYP21A2, GH1
42arginine4510.6IGFBP3, IGF1, IGFBP1, CYP21A2, SERPINA7, GH1
43hydrocortisone45 2 60 1113.6IGF1, IGFBP1, SHBG, GH1, CYP21A2
44vitamin d4510.6GH1, IGFBP1, IGFBP3, SHBG, GHR, IGF1
45alanine4510.5SERPINA7, SRY, GH1, CGB, SHBG
46droloxifene4510.5IGF1, IGFBP1, SHBG
47nandrolone45 2411.4IGFBP3, IGF1, SHBG
48glycerol45 11 2412.4GH1, SHBG, IGFBP3, PAEP, IGFBP1
49clonidine45 29 1112.3GHR, GH1, IGF1, IGFBP3
5017-hydroxypregnenolone4510.1SHBG, IGFBP1, CYP21A2

GO Terms for genes affiliated with Turner Syndrome

Sources:
16Gene Ontology
See all sources

Cellular components related to Turner Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1insulin-like growth factor binding protein complexGO:01694210.5IGF1, IGFBP3
2extracellular regionGO:00557610.3SERPINA7, CGB, GHR, GH1, SHBG, IGFBP1
3extracellular spaceGO:00561510.1BMP15, GHR, GH1, IGFBP1, IGFBP3, IGF1

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of insulin-like growth factor receptor signaling pathwayGO:04356810.6IGF1, IGFBP3, GH1
2positive regulation of tyrosine phosphorylation of Stat5 proteinGO:04252310.6IGF1, GH1, GHR
3female gamete generationGO:00729210.6BMP15, USP9X, CGB
4cellular protein metabolic processGO:04426710.5RPS4Y1, RPS4X, CGB, IGFBP1, IGFBP3, IGF1
5insulin-like growth factor receptor signaling pathwayGO:04800910.4IGF1, GHR
6positive regulation of peptidyl-tyrosine phosphorylationGO:05073110.4IGF1, GH1, GHR
7growth hormone receptor signaling pathwayGO:06039610.4GHR, GH1
8cartilage development involved in endochondral bone morphogenesisGO:06035110.1GHR, SHOX2

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

idNameGO IDScoreTop Affiliating Genes
1hormone activityGO:00517910.4IGF1, GH1, CGB

Products for genes affiliated with Turner Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Turner Syndrome

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