MCID: PRS049
MIFTS: 52

Persistent Mullerian Duct Syndrome malady

Categories: Genetic diseases, Rare diseases, Reproductive diseases, Endocrine diseases, Fetal diseases

Aliases & Classifications for Persistent Mullerian Duct Syndrome

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Sources:
10Disease Ontology, 45NIH Rare Diseases, 12DISEASES, 23Genetics Home Reference, 51Orphanet, 24GTR, 36MeSH, 59SNOMED-CT, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Persistent Mullerian Duct Syndrome:

Name: Persistent Mullerian Duct Syndrome 10 45 12
Persistent Müllerian Duct Syndrome 23 51 24
Pmds 45 23 51
Persistent Oviduct Syndrome 45 23
Persistent Mullerian Duct Syndrome, Types 1 and 2 45
 
Female Genital Ducts in Otherwise Normal Male 45
Persistent Müllerian Derivatives 51
Hernia Uteri Inguinale 45
Persistent M 36

Characteristics:

Orphanet epidemiological data:

51
persistent müllerian duct syndrome:
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: normal life expectancy

Classifications:



External Ids:

Disease Ontology10 DOID:0050791
MeSH36 C536665
Orphanet51 2856
SNOMED-CT59 702358005
ICD10 via Orphanet28 Q55.8
MESH via Orphanet37 C536665
UMLS via Orphanet66 C1849930
UMLS65 C1849930

Summaries for Persistent Mullerian Duct Syndrome

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NIH Rare Diseases:45 Persistent müllerian duct syndrome (pmds) is a disorder of sexual development that affects males. affected males have normal male reproductive organs and normal male external genitalia, but also have a uterus and fallopian tubes (female reproductive organs). the uterus and fallopian tubes develop from a structure called the müllerian duct in the fetus, which normally breaks down in males. in males with pmds, the müllerian duct remains. early signs of pmds may include undescended testes (cryptorchidism) or inguinal hernias. the uterus and fallopian tubes are often noticed during surgery to treat these conditions. other features of pmds may include unusual or abnormal positioning of the testes and female reproductive organs; transverse testicular ectopia (when both testicles descend on the same side); and infertility. pmds is caused by mutations in the amh gene (pmds type 1) or amhr2 gene (pmds type 2) and is inherited in an autosomal recessive manner. in some cases, the genetic cause is unknown. treatment may involve surgery to place the testes within the scrotum and remove müllerian structures. last updated: 10/20/2015

MalaCards based summary: Persistent Mullerian Duct Syndrome, also known as persistent müllerian duct syndrome, is related to persistent mullerian duct syndrome, type ii and pelizaeus-merzbacher disease, and has symptoms including undescended/ectopic testes/cryptorchidia/unfixed testes, autosomal recessive inheritance and inguinal/inguinoscrotal/crural hernia. An important gene associated with Persistent Mullerian Duct Syndrome is AMH (Anti-Mullerian Hormone), and among its related pathways are ALK2 signaling events and Glypican 3 network. Affiliated tissues include uterus, testes and cervix, and related mouse phenotypes are tumorigenesis and liver/biliary system.

Disease Ontology:10 A pseudohermaphroditism that is characterized by the persistence of Mullerian duct derivatives (i.e. uterus, cervix, fallopian tubes and upper two thirds of vagina) in a phenotypically and karyotypically male.

Genetics Home Reference:23 Persistent Müllerian duct syndrome is a disorder of sexual development that affects males. Males with this disorder have normal male reproductive organs, though they also have a uterus and fallopian tubes, which are female reproductive organs. The uterus and fallopian tubes are derived from a structure called the Müllerian duct during development of the fetus. The Müllerian duct usually breaks down during early development in males, but it is retained in those with persistent Müllerian duct syndrome. Affected individuals have the normal chromosomes of a male (46,XY) and normal external male genitalia.

Wikipedia:68 Persistent Müllerian duct syndrome (PMDS) is the presence of Müllerian duct derivatives (fallopian... more...

Related Diseases for Persistent Mullerian Duct Syndrome

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Diseases in the Persistent Mullerian Duct Syndrome family:

Persistent Mullerian Duct Syndrome, Type Ii

Diseases related to Persistent Mullerian Duct Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
idRelated DiseaseScoreTop Affiliating Genes
1persistent mullerian duct syndrome, type ii12.5
2pelizaeus-merzbacher disease11.8
3pelizaeus-merzbacher disease, connatal form11.0
4diabetes insipidus, nephrogenic10.7AMH, AMHR2
5uremic neuropathy10.6AMH, BMP15, SRY
6hypogonadism10.5AMH, AMHR2, SRY
7actg2-related disorders10.5NR5A1, SRY
8disease of mental health10.5AMH, BMP15, SRY
9hidradenitis suppurativa10.5AMH, NR5A1, SRY
10leptospirosis10.4AMH, BMP15, NR5A1
11anorectal atresia10.4INSL3, NR5A1, SRY
12urinary schistosomiasis10.4BMP15, NR5A1, SRY
13microglandular adenosis10.4SRY, TGFBI
14seminoma10.4
15nodular neuronal heterotopia10.3SOX9, SRY
16chronic leukemia10.3SRY, TGFB1, TGFBI
17inguinal hernia10.3
18immunodeficiency 28, mycobacteriosis10.3TGFB1, TGFBI
19leprechaunism10.2AMH, INSL3, NR5A1
20cryptorchidism10.2
21dysmorphism-short stature-deafness-disorder of sex development syndrome10.1NR5A1, SOX9, SRY
22swyer-james syndrome10.1NR5A1, SOX9, SRY
2346 xx gonadal dysgenesis10.0AMH, AMHR2, SOX9, SRY
24microcephaly10.0FGFR2, NR5A1, SRY
25meacham syndrome9.9AMH, NR5A1, SOX9, SRY
26alternating hemiplegia of childhood9.9AMH, NR5A1, SOX9, SRY
27klinefelter's syndrome9.9
28endometriosis9.9
29teratoma9.9
30pseudohermaphroditism9.9
31tuberculosis9.9
3248,xxxy syndrome9.9BMP15, NR5A1, SOX9, SRY
33chromosome 15q24 deletion syndrome9.9AMH, FGFR2, NOTCH2, PLP1
34fabry disease9.9AMH, BMP15, NR5A1
35teratocarcinoma9.8KIT, SLC22A3, SRY
3646 xy gonadal dysgenesis9.7AMH, BMP15, NR5A1, SOX9, SRY
37hyperbiliverdinemia9.6CTNNB1, NR5A1, SOX9, SRY
38extragonadal seminoma9.6KIT, SLC22A3
39myasthenic syndrome, congenital, 2a, slow-channel9.5BMP4, FGFR2, SOX9
40tenosynovitis of foot and ankle9.4CTNNB1, KIT, TGFB1
41cell type cancer9.2CTNNB1, KIT, TGFB1
42short qt syndrome4.7AMH, AMHR2, BMP15, BMP4, BMP5, CTNNB1

Graphical network of the top 20 diseases related to Persistent Mullerian Duct Syndrome:



Diseases related to persistent mullerian duct syndrome

Symptoms for Persistent Mullerian Duct Syndrome

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Symptoms:

 51
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • autosomal recessive inheritance
  • inguinal/inguinoscrotal/crural hernia
  • male pseudohermaphrodism/lack of virilisation

Drugs & Therapeutics for Persistent Mullerian Duct Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Persistent Mullerian Duct Syndrome


Cochrane evidence based reviews: persistent m

Genetic Tests for Persistent Mullerian Duct Syndrome

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Anatomical Context for Persistent Mullerian Duct Syndrome

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MalaCards organs/tissues related to Persistent Mullerian Duct Syndrome:

33
Uterus, Testes, Cervix, Prostate, Liver, Kidney, T cells

Animal Models for Persistent Mullerian Duct Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Persistent Mullerian Duct Syndrome:

38 (show all 26)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020067.8AMH, AMHR2, CTNNB1, FGFR2, KIT, NOTCH2
2MP:00053707.4BMP4, BMP5, CTNNB1, FGFR2, FURIN, KIT
3MP:00030127.2AMH, AMHR2, BMP4, CTNNB1, FGFR2, KIT
4MP:00053717.2BMP4, BMP5, CTNNB1, FGFR2, FURIN, KIT
5MP:00028736.9BMP4, CTNNB1, FGFR2, FURIN, KIT, NOTCH2
6MP:00053826.8BMP4, BMP5, CTNNB1, FGFR2, KIT, NOTCH2
7MP:00053886.8AMHR2, BMP4, BMP5, CTNNB1, FGFR2, KIT
8MP:00053776.7BMP4, BMP5, CTNNB1, FGFR2, KIT, PLP1
9MP:00053696.7BMP4, CTNNB1, FGFR2, KIT, NOTCH2, PLP1
10MP:00053676.7AMHR2, BMP4, BMP5, CTNNB1, FGFR2, KIT
11MP:00053916.7BMP4, CTNNB1, FGFR2, KIT, NOTCH2, PLP1
12MP:00053816.6BMP4, BMP5, CTNNB1, FGFR2, FURIN, KIT
13MP:00107716.5AMHR2, BMP4, CTNNB1, FGFR2, FURIN, KIT
14MP:00053806.1AMHR2, BMP4, BMP5, CTNNB1, FGFR2, FURIN
15MP:00053906.0BMP4, BMP5, CTNNB1, FGFR2, INSL3, KIT
16MP:00053875.9AMHR2, BMP5, CTNNB1, FGFR2, FURIN, KIT
17MP:00053865.8BMP4, BMP5, CTNNB1, FGFR2, INSL3, KIT
18MP:00053845.7AMHR2, BMP4, CTNNB1, FGFR2, KIT, NOTCH2
19MP:00053795.7AMH, AMHR2, BMP15, BMP4, BMP5, CTNNB1
20MP:00036315.6BMP4, CTNNB1, FGFR2, FURIN, KIT, NOTCH2
21MP:00053765.5AMH, AMHR2, BMP4, CTNNB1, FGFR2, KIT
22MP:00053975.4AMHR2, BMP4, CTNNB1, FGFR2, FURIN, KIT
23MP:00053855.3AMHR2, BMP4, BMP5, CTNNB1, FGFR2, FURIN
24MP:00053785.0AMHR2, BMP4, BMP5, CTNNB1, FGFR2, FURIN
25MP:00053894.9AMH, AMHR2, BMP15, BMP4, BMP5, CTNNB1
26MP:00107684.8AMHR2, BMP4, BMP5, CTNNB1, FGFR2, FURIN

Publications for Persistent Mullerian Duct Syndrome

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Articles related to Persistent Mullerian Duct Syndrome:

(show top 50)    (show all 59)
idTitleAuthorsYear
1
Persistent Mullerian Duct Syndrome with Embryonal Cell Carcinoma along with Ectopic Cross Fused Kidney. (26894123)
2016
2
Persistent Mullerian Duct Syndrome with Ovarian Endometriosis-A Rare Case Report. (27042476)
2016
3
Laparoscopic management of transverse testicular ectopia with persistent mullerian duct syndrome. (26195884)
2015
4
A novel mutation of AMH in three siblings with persistent Mullerian duct syndrome. (26181047)
2015
5
Laparoscopic hysterectomy with bilateral orchidectomy for Persistent Mullerian duct syndrome with seminoma testes: Case report. (26622120)
2015
6
A case of testicular seminoma in persistent Mullerian duct syndrome with transverse testicular ectopia. (25504517)
2015
7
Acute urinary retention caused by seminoma in a case of persistent Mullerian duct syndrome. (25673601)
2015
8
Female form of persistent mullerian duct syndrome: Rare entity. (25657558)
2015
9
Persistent mullerian duct syndrome with transverse testicular ectopia: rare entity. (24783120)
2014
10
Persistent mullerian duct syndrome: A case report and review of the literature. (25143891)
2014
11
Persistent Mullerian duct syndrome with transverse testicular ectopia and seminoma. (24554220)
2014
12
Robot-assisted Laparoscopic Hysterectomy, Gonadal Biopsy, and Orchiopexies in an Infant With Persistent Mullerian Duct Syndrome. (24246315)
2013
13
A novel mutation of anti-Mullerian hormone gene in Persistent Mullerian Duct Syndrome presented with bilateral cryptorchidism: a case report. (23611722)
2013
14
Persistent Mullerian duct syndrome with transverse testicular ectopia: rare presentation of inguinal hernia. (23801478)
2013
15
Indirect inguinal hernia with uterine tissue in a male: A case of persistent Mullerian duct syndrome and literature review. (23671501)
2013
16
Persistent Mullerian Duct Syndrome: an interesting case report. (24045516)
2013
17
Persistent mullerian duct syndrome in a patient with bilateral cryptorchid testes with seminoma. (23162363)
2012
18
Male form of persistent Mullerian duct syndrome type I (hernia uteri inguinalis) presenting as an obstructed inguinal hernia: a case report. (22185203)
2011
19
Persistent Mullerian duct syndrome with testicular seminoma: A report of two cases. (22022070)
2011
20
Transverse testicular ectopia and persistent Mullerian duct syndrome: video-assisted treatment. (19360556)
2010
21
Persistent Mullerian duct syndrome in a Miniature Schnauzer dog with signs of feminization and a Sertoli cell tumour. (18954385)
2010
22
Persistent Mullerian duct syndrome: a case-based algorithm. (20509098)
2010
23
Persistent mullerian duct syndrome. (20352001)
2010
24
Testicular fusion in a patient with transverse testicular ectopia and persistent mullerian duct syndrome. (20092878)
2010
25
Persistent Mullerian duct syndrome: a case report and review of the literature. (20859029)
2010
26
Natural mutations of the anti-Mullerian hormone type II receptor found in persistent Mullerian duct syndrome affect ligand binding, signal transduction and cellular transport. (19457927)
2009
27
Transverse testicular ectopia associated with persistent Mullerian duct syndrome - the role of imaging. (18559894)
2008
28
Combined persistent Mullerian Duct Syndrome, Transverse Testicular Ectopia and Mosaic Klinefelter's Syndrome. (18760051)
2008
29
Tuberculosis of transverse testicular ectopic testis associated with persistent mullerian duct syndrome. (18474165)
2008
30
Persistent mullerian duct syndrome and transverse testicular ectopia: embryology, presentation, and management. (18082721)
2007
31
Persistent Mullerian duct syndrome with transverse testicular ectopia presenting in an irreducible recurrent inguinal hernia. (17902529)
2007
32
Persistent mullerian duct syndrome with transverse testicular ectopia. (17333518)
2007
33
Persistent mullerian duct syndrome with transverse testicular ectopia. (15730845)
2005
34
Persistent Mullerian duct syndrome with bilateral abdominal testis: surgical approach and review of the literature. (18947583)
2005
35
Mutations of the anti-mullerian hormone gene in patients with persistent mullerian duct syndrome: biosynthesis, secretion, and processing of the abnormal proteins and analysis using a three-dimensional model. (14673134)
2004
36
Persistent Mullerian duct syndrome associated with 47,XXY genotype. (14713842)
2004
37
Persistent Mullerian duct syndrome causing male pseudohermaphroditism in a mixed-breed dog. (15499815)
2004
38
Persistent Mullerian duct syndrome caused by both a 27-bp deletion and a novel splice mutation in the MIS type II receptor gene. (14745940)
2003
39
Persistent mullerian duct syndrome--a case report. (12675189)
2002
40
Persistent mullerian duct syndrome with teratoma in an ectopic testis: imaging features. (11419169)
2001
41
A case of bilateral seminoma in the setting of persistent mullerian duct syndrome. (11421115)
2001
42
Persistent Mullerian duct syndrome presenting with bilateral intra-abdominal gonadal tumours and obstructive uropathy. (11554632)
2001
43
Persistent Mullerian duct syndrome associated with transverse testicular ectopia. (11180784)
1999
44
Persistent mullerian duct syndrome with normal testis. (9670631)
1998
45
Persistent Mullerian Duct Syndrome associated with transverse testicular ectopia: a case report. (9085816)
1997
46
Persistent mullerian duct syndrome associated with transverse testicular ectopia. (17377436)
1997
47
Molecular genetics of the persistent Mullerian duct syndrome: a study of 19 families. (8162013)
1994
48
A testicular tumour in the left adnex. The persistent mullerian duct syndrome with testicular malignancy. (1671659)
1991
49
Premature centromeric divisions and prominent telomeres in a patient with persistent mullerian duct syndrome. (1967991)
1990
50
Persistent Mullerian duct syndrome: report of two boys with associated crossed testicular ectopia. (2359010)
1990

Variations for Persistent Mullerian Duct Syndrome

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Expression for genes affiliated with Persistent Mullerian Duct Syndrome

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Search GEO for disease gene expression data for Persistent Mullerian Duct Syndrome.

Pathways for genes affiliated with Persistent Mullerian Duct Syndrome

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Pathways related to Persistent Mullerian Duct Syndrome according to GeneCards Suite gene sharing:

(show all 22)
idSuper pathwaysScoreTop Affiliating Genes
110.1AMH, AMHR2
29.6BMP4, FURIN
39.4CTNNB1, FURIN, NOTCH2
4
Show member pathways
9.3BMP4, BMP5, TGFB1
5
Show member pathways
9.2BMP4, FURIN, TGFB1
69.2CTNNB1, SOX9, SRY
79.1BMP4, CTNNB1, TGFB1
89.1BMP15, BMP4, BMP5, TGFB1
99.0BMP4, NOTCH2, SOX9
10
Show member pathways
8.9CTNNB1, NR5A1, SOX9, WNT7A
11
Show member pathways
8.9AMH, AMHR2, BMP4, BMP5, TGFB1
128.9AMH, BMP4, CTNNB1, TGFB1
138.8BMP4, CTNNB1, FGFR2, WNT7A
148.7BMP4, KIT, TGFB1
15
Show member pathways
8.5BMP4, CTNNB1, KIT, WNT7A
168.4AMH, BMP4, BMP5, CTNNB1, TGFB1, WNT7A
17
Show member pathways
8.1BMP4, BMP5, CTNNB1, FGFR2, TGFB1, WNT7A
188.1BMP4, CTNNB1, FGFR2, NOTCH2, SOX9
197.9BMP4, BMP5, KIT, SOX9, TGFB1
207.5BMP4, CTNNB1, FGFR2, KIT, TGFB1, WNT7A
21
Show member pathways
7.3BMP4, BMP5, CTNNB1, FGFR2, KIT, TGFB1
22
Show member pathways
7.0BMP15, BMP4, BMP5, CTNNB1, FGFR2, KIT

GO Terms for genes affiliated with Persistent Mullerian Duct Syndrome

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Cellular components related to Persistent Mullerian Duct Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nuclear transcription factor complexGO:00447989.4CTNNB1, SOX9

Biological processes related to Persistent Mullerian Duct Syndrome according to GeneCards Suite gene sharing:

(show top 50)    (show all 73)
idNameGO IDScoreTop Affiliating Genes
1embryonic axis specificationGO:000057810.4CTNNB1, WNT7A
2positive regulation of DNA-dependent DNA replicationGO:200010510.4BMP4, BMP5
3sex differentiationGO:000754810.4AMH, AMHR2, WNT7A
4common-partner SMAD protein phosphorylationGO:000718210.2BMP4, TGFB1
5regulation of cartilage developmentGO:006103510.2BMP4, TGFB1
6male sex determinationGO:003023810.2SOX9, SRY
7positive regulation of extracellular matrix assemblyGO:190120310.1SOX9, TGFB1
8regulation of protein import into nucleusGO:004230610.1BMP4, TGFB1
9trachea formationGO:006044010.1BMP4, CTNNB1
10lung-associated mesenchyme developmentGO:006048410.1CTNNB1, FGFR2
11mesenchymal cell proliferation involved in lung developmentGO:006091610.1CTNNB1, FGFR2
12branching involved in prostate gland morphogenesisGO:006044210.1BMP4, FGFR2
13positive regulation of branching involved in lung morphogenesisGO:006104710.1BMP4, CTNNB1
14positive regulation of endothelial cell differentiationGO:004560310.1BMP4, CTNNB1
15regulation of morphogenesis of a branching structureGO:006068810.1BMP4, FGFR2
16mesodermal cell differentiationGO:004833310.1BMP4, FGFR2
17lacrimal gland developmentGO:003280810.1FGFR2, SOX9
18regulation of smooth muscle cell differentiationGO:005115010.0BMP4, FGFR2
19BMP signaling pathwayGO:00305099.9BMP15, BMP4, BMP5
20otic vesicle formationGO:00309169.8FGFR2, SOX9
21regulation of branching involved in prostate gland morphogenesisGO:00606879.8BMP4, FGFR2
22embryonic hindlimb morphogenesisGO:00351169.8BMP4, CTNNB1, WNT7A
23lymphoid progenitor cell differentiationGO:00023209.8BMP4, KIT
24cellular response to transforming growth factor beta stimulusGO:00715609.8SOX9, TGFB1, WNT7A
25cartilage developmentGO:00512169.7BMP5, SOX9, WNT7A
26SMAD protein signal transductionGO:00603959.7BMP4, BMP5, TGFB1
27growthGO:00400079.7BMP4, BMP5, TGFB1
28negative regulation of chondrocyte differentiationGO:00323319.5BMP4, CTNNB1, SOX9
29prostate gland morphogenesisGO:00605129.5BMP4, FGFR2, SOX9
30positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108629.5BMP15, BMP4, BMP5, TGFB1
31negative regulation of myoblast differentiationGO:00456629.4BMP4, SOX9, TGFB1
32ureteric bud developmentGO:00016579.4BMP4, FGFR2, TGFB1
33regulation of cell differentiationGO:00455959.4BMP4, CTNNB1, SOX9
34T cell differentiationGO:00302179.4CTNNB1, KIT, TGFB1
35ovarian follicle developmentGO:00015419.4BMP15, BMP4, KIT
36stem cell population maintenanceGO:00198279.4CTNNB1, KIT, NOTCH2
37digestive tract developmentGO:00485659.3FGFR2, KIT, TGFB1
38cell fate commitmentGO:00451659.1BMP4, FGFR2, SOX9, WNT7A
39angiogenesisGO:00015259.0BMP4, FGFR2, TGFBI, WNT7A
40response to estradiolGO:00323559.0BMP4, CTNNB1, TGFB1, WNT7A
41chondrocyte differentiationGO:00020629.0BMP4, SOX9, TGFB1, TGFBI, WNT7A
42epithelial to mesenchymal transitionGO:00018378.9CTNNB1, FGFR2, SOX9, TGFB1
43response to organic cyclic compoundGO:00140708.8AMH, BMP4, CTNNB1, TGFB1
44negative regulation of cell proliferationGO:00082858.6BMP4, BMP5, INSL3, SOX9, TGFB1
45negative regulation of epithelial cell proliferationGO:00506808.6BMP4, FGFR2, SOX9, TGFB1
46positive regulation of cell proliferationGO:00082848.6BMP4, INSL3, SOX9, TGFB1, WNT7A
47positive regulation of transcription, DNA-templatedGO:00458938.2BMP4, CTNNB1, NR5A1, SOX9, SRY, TGFB1
48regulation of cell proliferationGO:00421278.0CTNNB1, KIT, SOX9, TGFB1, WNT7A
49positive regulation of transcription from RNA polymerase II promoterGO:00459447.9BMP4, BMP5, FGFR2, NR5A1, SOX9, TGFB1
50positive regulation of gene expressionGO:00106286.9AMH, BMP4, CTNNB1, KIT, SOX9, TGFB1

Molecular functions related to Persistent Mullerian Duct Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta receptor bindingGO:000516010.0AMH, BMP5

Sources for Persistent Mullerian Duct Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet