TS
MCID: TRN020
MIFTS: 77

Turner Syndrome (TS) malady

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

Summaries for Turner Syndrome

About this section
Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 33MedlinePlus, 63Wikipedia, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MedlinePlus:33 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 gonadal disease, and has symptoms including hypoplastic aorta/coarctation/stenosis/anomaly/aortic arch interruption, ptosis and delayed bone age. 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 kidney, ovary and testes.

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:42 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:63 Turner syndrome or Ullrich–Turner syndrome (also known as \"Gonadal dysgenesis\"), 45,X, encompasses... more...

Aliases & Classifications for Turner Syndrome

About this section
Sources:
8Disease Ontology, 63Wikipedia, 42NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 48Orphanet, 33MedlinePlus, 60UMLS, 39NCIt, 56SNOMED-CT, 34MeSH, 35MESH via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 26ICD10 via Orphanet, 25ICD10
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

48
turner syndrome:
Inheritance: Sporadic; Prevalence: 1-5/10000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

turner syndrome 8 63 42 21 10 48 33 60
monosomy x 8 63 21 48
bonnevie-ullrich syndrome 8 63 60
turner's syndrome 63 22 21
ullrich-turner syndrome 63 21
gonadal dysgenesis 42 60
45,x 63 21
ts 63 21
gonadal dysgenesis turner type 42
schereshevkii turner syndrome 42
bonnevie-ullrich syndrome nos 8
gonadal dysgenesis - turner 8
bonnevie-ulrich syndrome 42
chromosome x monosomy x 42
turner's syndrome nos 8
45,x/46,xx syndrome 48
monosomy x syndrome 8
turners syndrome 44
karyotype 45, x 8
45, x syndrome 42
45,x syndrome 48
xo syndrome 8


External Ids:

Disease Ontology8 DOID:3491
MESH via Orphanet35 D014424
SNOMED-CT via Orphanet57 38804009
UMLS via Orphanet61 C0041408
ICD10 via Orphanet26 Q96.0, Q96.1, Q96.2 Q96.3, Q96.4, Q96.8, Q96.9, more
ICD1025 Q96.0

Related Diseases for Turner Syndrome

About this section
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 syndrome30.9SRY
2gonadal disease30.7IGF1, GH1
3noonan syndrome30.7GHR, IGFBP3, IGF1
4anorexia nervosa30.7GHR, GH1, SHBG, IGFBP1, IGFBP3, IGF1
5hypogonadism30.5IGF1, IGFBP3, SHBG, GH1
6gonadoblastoma30.5RPS4Y1, SRY, TSPY1
7gonadal dysgenesis30.4SRY
8thyroiditis30.4SERPINA7
9breast cancer30.4CGB, GH1, SHBG, IGFBP1, IGFBP3, IGF1
10premature ovarian failure30.3PAEP, IGFBP3, SHBG, BMP15
11hermaphroditism30.1SRY
12hyperprolactinemia30.1CGB, GH1, SHBG, IGF1
13endometriosis30.1PAEP, IGFBP1
14choriocarcinoma30.1GH1, CGB
15hypospadias30.1CYP21A2, SRY
16metabolic acidosis30.1IGF1
17hypertension30.1IGF1
18prolactinoma30.1IGF1, GH1, CGB
19dwarfism30.1GHR, GH1, SHOX, IGFBP3, IGF1
20hypopituitarism30.1GHR, GH1, SHBG, IGFBP3, IGF1, CYP21A2
21hypothyroidism30.1GHR, GH1, SHBG, IGFBP3, IGF1, SERPINA7
22mixed gonadal dysgenesis30.1CYP21A2, SRY
23obesity30.1GHR, GH1, SHBG, IGFBP1, IGFBP3, IGF1
24prader-willi syndrome29.9GH1, IGF1
25infertility29.9BMP15, CGB, SHBG, IGFBP1, CYP21A2, PAEP
26male infertility29.9TSPY1, SHBG
27amenorrhea29.8BMP15, SHBG, IGF1, SRY
28acromegaly29.8GH1, IGFBP3, IGF1
29glucose intolerance29.8GH1, SHBG, IGFBP1, IGFBP3, IGF1
30hyperinsulinism29.8GHR, GH1, SHBG, IGFBP1, IGFBP3, IGF1
31down syndrome29.8CGB, SRY
32endometrial carcinoma29.8PAEP, IGF1, IGFBP3, IGFBP1, SHBG
33graves' disease29.8SERPINA7, CYP21A2, SHBG
34hypoglycemia29.8GHR, GH1, IGFBP1, IGFBP3, IGF1
35diabetes mellitus29.8GHR, GH1, SHBG, IGFBP1, IGFBP3, IGF1
36adenocarcinoma29.8CGB, GHR, IGFBP1, CYP21A2, PAEP
37adenoma29.8CGB, GHR, GH1, SHBG, IGFBP1, IGFBP3
38hypochondroplasia29.8SHOX
3946 xy gonadal dysgenesis10.7
40adult syndrome10.6
4146 xx gonadal dysgenesis10.5
42colorectal cancer10.5
43image syndrome10.5
44denys-drash syndrome10.4
45seminoma10.4
4646,xy disorder of sex development and 46,xy complete gonadal dysgenesis10.4
47gonadal dysgenesis, xx type10.4
48ovarian dysgenesis 110.4
49parsonage turner syndrome10.4
50frasier syndrome10.4

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



Diseases related to turner syndrome

Clinical Features for Turner Syndrome

About this section
Sources:
48Orphanet
See all sources


Symptoms:

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

Drugs & Therapeutics for Turner Syndrome

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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

About this section
Sources:
22GTR
See all sources

Genetic tests related to Turner Syndrome:

id Genetic test Affiliating Genes
1 Turner Syndrome22

Anatomical Context for Turner Syndrome

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Turner Syndrome:

32
Kidney, Ovary, Testes, Skin, Thyroid, Heart, Bone, Liver, Brain, Eye, Adrenal gland, Uterus, Cortex, Endothelial, Skeletal muscle, Small intestine, Pituitary, Monocytes, Tongue, Fetal liver

Animal Models for Turner Syndrome or affiliated genes

About this section

Publications for Turner Syndrome

About this section
Sources:
50PubMed
See all sources

Articles related to Turner Syndrome:

(show top 50)    (show all 662)
idTitleAuthorsYear
1
Ambulatory blood pressure and subclinical cardiovascular disease in children with turner syndrome. (23794013)
2014
2
Turner Syndrome and apparent absent uterus: a case report and review of the literature. (23443264)
2013
3
A pharmacogenomic approach to the treatment of children with GH deficiency or Turner syndrome. (23761422)
2013
4
Improving Detection of Hypertension in Girls with Turner Syndrome Using Ambulatory Blood Pressure Monitoring. (24281046)
2013
5
Evidence for epigenetic alterations in Turner syndrome opens up feasibility of new pharmaceutical interventions. (23888970)
2013
6
Postsurgical Parsonage-Turner syndrome: a challenging diagnosis. (23547510)
2013
7
Height gain in Ullrich-Turner syndrome after early and late growth hormone treatment start: results from a large retrospective German study and potential basis for an individualized treatment approach. (24217296)
2013
8
False aneurysm on distal part of coarctation of the aorta in a parous Turner syndrome patient. (23207878)
2013
9
Successful deployment of an iliac limb graft to repair acute aortic rupture after balloon aortoplasty of recoarctation in a child with Turner syndrome. (21681538)
2012
10
Neuralgic amyotrophy (Parsonage-Turner syndrome). (22751163)
2012
11
Favorable impact of growth hormone treatment on cholesterol levels in turner syndrome. (23926408)
2012
12
Cephalometric analysis of pharyngeal airway space dimensions in Turner syndrome. (22275513)
2012
13
Impaired endothelial function in pediatric patients with turner syndrome and healthy controls: a case-control study. (22472028)
2012
14
Analysis of vitamin D receptor gene (VDR) polymorphisms in Turner syndrome patients. (22117179)
2012
15
Parental origin of the X-chromosome does not influence growth hormone treatment effect in Turner syndrome. (22593588)
2012
16
Turner syndrome: new insights into an old disorder. (22921912)
2012
17
Familial Turner syndrome with an X;Y translocation mosaicism: implications for genetic counseling. (22809487)
2012
18
Short stature and its treatment in Turner and Noonan syndromes. (22157403)
2012
19
Cardiovascular phenotype in Turner syndrome--integrating cardiology, genetics, and endocrinology. (22707402)
2012
20
Socioeconomic parameters and mortality in Turner syndrome. (22436401)
2012
21
A girl with 45,X/46,XX Turner syndrome and salt wasting form of congenital adrenal hyperplasia due to regulatory changes. (23163125)
2012
22
Compromised trabecular microarchitecture and lower finite element estimates of radius and tibia bone strength in adults with turner syndrome: a cross-sectional study using high-resolution-pQCT. (22492464)
2012
23
Reduced sebum production in Turner syndrome: a study of twenty-two patients. (21978710)
2011
24
Partial anomalous pulmonary venous return in a patient with Turner syndrome. (21161203)
2011
25
A highly sensitive, high-throughput assay for the detection of Turner syndrome. (21177792)
2011
26
Puberty induction in Turner syndrome. (21610688)
2011
27
Association between ER-I+ polymorphisms and bone mineral density in patients with Turner syndrome subjected to estroprogestagen treatment--a pilot study. (21271267)
2011
28
Turner syndrome with aberrant right subclavian artery and partial anomalous pulmonary venous return. (21376695)
2011
29
Delayed I^-cell response and glucose intolerance in young women with Turner syndrome. (21406078)
2011
30
Management of pregnancy in women with genetic disorders: Part 2: Inborn errors of metabolism, cystic fibrosis, neurofibromatosis type 1, and Turner syndrome in pregnancy. (22192461)
2011
31
Aortic dimensions in girls and young women with turner syndrome: a magnetic resonance imaging study. (20063160)
2010
32
Large inverted repeats within Xp11.2 are present at the breakpoints of isodicentric X chromosomes in Turner syndrome. (20570968)
2010
33
Expanding the differential of shoulder pain: Parsonage-Turner syndrome. (19706831)
2009
34
Multiple pilomatrixoma in Turner syndrome. (19454938)
2009
35
Paternally derived der(7)t(Y;7)(p11.1 approximately 11.2;p22.3)dn in a mosaic case with Turner syndrome. (19375526)
2009
36
Fabry disease in a patient with Turner syndrome. (19343533)
2009
37
Turner syndrome: searching for better outcomes. (18438570)
2008
38
Turner syndrome and clinical treatment. (18400842)
2008
39
Size of the exon 1-CAG repeats of the androgen receptor gene employed as a molecular marker in the diagnosis of Turner syndrome in girls with short stature. (18273818)
2008
40
Girl with partial Turner syndrome and absence epilepsy. (18358412)
2008
41
Evaluation of hearing organ in patients with Turner syndrome. (18343510)
2008
42
Pulmonary varix mimicking pulmonary arteriovenous malformation in a patient with Turner syndrome. (16043959)
2007
43
Endovascular repair of dissecting thoracic aortic aneurysm in a patient with Turner syndrome. (17042655)
2006
44
Monozygotic twins with Turner syndrome develop slipped capital femoral epiphysis on growth hormone therapy. (17088401)
2006
45
Metacarpophalangeal pattern profile analysis: useful diagnostic tool for differentiating between dyschondrosteosis, Turner syndrome, and hypochondroplasia. (16796318)
2006
46
Ovarian mucinous cystadenoma in a female with Turner syndrome. (15448783)
2004
47
Parsonage-Turner syndrome after total-hip arthroplasty. (11402420)
2001
48
Analysis of the SRY gene in Turner syndrome patients with Y chromosomal material. (11694555)
2001
49
Predicting the response to recombinant human growth hormone in Turner syndrome: KIGS models. KIGS International Board. Kabi International Growth Study. (10626562)
1999
50
Functional equivalence of human X- and Y-encoded isoforms of ribosomal protein S4 consistent with a role in Turner syndrome. (8358435)
1993

Genetic Variations for Turner Syndrome

About this section

Expression for genes affiliated with Turner Syndrome

About this section
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

About this section
Sources:
37NCBI BioSystems Database, 12EMD Millipore, 53Reactome, 29KEGG
See all sources

Compounds for genes affiliated with Turner Syndrome

About this section
Sources:
44Novoseek, 11DrugBank, 28IUPHAR, 24HMDB, 49PharmGKB, 59Tocris Bioscience, 2BitterDB
See all sources

Compounds related to Turner Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 105)
idCompoundScoreTop Affiliating Genes
1estrogen4410.8SHOX, SERPINA7, PAEP
2dehydroepiandrosterone sulfate4410.8GHR, IGFBP1, IGFBP3, IGF1, CYP21A2, GH1
3pegvisomant44 1111.8GH1, GHR, IGFBP3, IGF1, IGFBP1
4leuprolide acetate4410.8CYP21A2, IGF1, GHR, GH1, SHBG
5c-peptide4410.8GHR, SHBG, IGFBP1, IGFBP3, GH1, CYP21A2
6lanreotide44 2811.8IGFBP3, IGFBP1, GH1, GHR, IGF1
7acth4410.8IGF1, IGFBP1, SERPINA7, CYP21A2, IGFBP3, GHR
8triiodothyronine4410.8GHR, GH1, SHBG, IGFBP1, SERPINA7, IGFBP3
9dihydrotestosterone44 28 11 2413.8SHBG, IGFBP1, GHR, IGF1, GH1, IGFBP3
10clomiphene citrate4410.8PAEP, IGFBP1, SHBG, GH1, CGB, IGFBP3
11thyroxine44 2411.8IGF1, SHBG, GHR, CGB, IGFBP3, CYP21A2
12oxandrolone44 1111.8IGFBP3, IGF1, SHBG, GH1
13progestins4410.8SERPINA7, PAEP, GH1, SHBG, IGFBP1, IGFBP3
14androstenedione44 2411.8SHBG, GH1, GHR, CGB, IGFBP1, IGF1
15raloxifene44 28 49 1113.8IGF1, SERPINA7, GH1
16deoxypyridinoline4410.8IGFBP3, IGF1, IGFBP1, SHBG, GH1
17dhea4410.8CYP21A2, IGFBP1, SHBG, GH1, IGF1, IGFBP3
18ghrp4410.8IGF1, IGFBP3, GHR, GH1
19gnrh4410.8GH1, SHBG, IGF1, IGFBP1, IGFBP3, CYP21A2
20levonorgestrel44 59 28 1113.8SERPINA7, PAEP, IGFBP3, IGFBP1, SHBG
21estradiol44 11 2412.8SERPINA7, SRY, PAEP, GHR, IGF1, IGFBP1
22estrone44 28 11 2413.8IGFBP3, SERPINA7, IGF1, SHBG, GH1, IGFBP1
23steroid4410.8IGFBP3, IGFBP1, IGF1, CYP21A2, PAEP, SRY
24ribonucleic acid4410.8GHR, GH1, IGFBP1, IGFBP3, IGF1, PAEP
25bromocriptine28 44 1112.8IGF1, GHR, IGFBP3, SHBG, GH1
26progesterone44 59 28 11 2414.8GH1, CYP21A2, CGB, SERPINA7, IGF1, IGFBP3
27hexarelin44 2811.8IGFBP3, IGF1, GH1, GHR
28testosterone44 59 11 2413.8GH1, IGFBP1, IGF1, SERPINA7, SRY, PAEP
29pyridostigmine44 1111.8IGF1, GH1, IGFBP1, IGFBP3
30tamoxifen44 49 28 1113.8PAEP, SHBG, IGF1, IGFBP3, GH1, SERPINA7
31anastrozole44 1111.7IGFBP1, GH1, IGFBP3, SHBG
32buserelin44 28 1112.7PAEP, IGFBP3, IGFBP1, IGF1
33octreotide44 59 28 1113.7IGF1, GH1, IGFBP3, IGFBP1, GHR
34creatinine4410.7SERPINA7, IGF1, IGFBP3, CGB, IGFBP1, SHBG
35cabergoline28 44 1112.7IGFBP3, GH1, GHR, IGF1
36glucose4410.7PAEP, CYP21A2, IGF1, SERPINA7, SHBG, GH1
37calcitriol44 59 11 2413.7IGFBP3, IGF1, GH1, GHR, SHBG, IGFBP1
38progestin4410.7PAEP, IGFBP1, SHBG, IGF1, IGFBP3
39chloramphenicol44 2 1112.6CYP21A2, IGFBP3, GH1, IGFBP1, SERPINA7, GHR
40cholesterol44 28 11 2413.6PAEP, CYP21A2, GHR, SERPINA7, SHBG, IGFBP1
41prednisolone44 28 1112.6IGFBP3, IGFBP1, SHBG, CYP21A2, GH1
42arginine4410.6IGFBP3, IGF1, IGFBP1, CYP21A2, SERPINA7, GH1
43hydrocortisone44 2 59 1113.6IGF1, IGFBP1, SHBG, GH1, CYP21A2
44vitamin d4410.6GH1, IGFBP1, IGFBP3, SHBG, GHR, IGF1
45alanine4410.5SERPINA7, SRY, GH1, CGB, SHBG
46droloxifene4410.5IGF1, IGFBP1, SHBG
47nandrolone44 2411.4IGFBP3, IGF1, SHBG
48glycerol44 11 2412.4GH1, SHBG, IGFBP3, PAEP, IGFBP1
49clonidine44 28 1112.3GHR, GH1, IGF1, IGFBP3
5017-hydroxypregnenolone4410.1SHBG, IGFBP1, CYP21A2

GO Terms for genes affiliated with Turner Syndrome

About this section
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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Turner Syndrome

About this section
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