MCID: PRS049
MIFTS: 50

Persistent Mullerian Duct Syndrome

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

Aliases & Classifications for Persistent Mullerian Duct Syndrome

MalaCards integrated aliases for Persistent Mullerian Duct Syndrome:

Name: Persistent Mullerian Duct Syndrome 12 50 29 14 25 42
Persistent Oviduct Syndrome 50 25
Pmds 50 25
Persistent Mullerian Duct Syndrome, Types 1 and 2 50
Female Genital Ducts in Otherwise Normal Male 50
Persistent Muellerian Duct Syndrome 12
Hernia Uteri Inguinale 50

Classifications:



External Ids:

Disease Ontology 12 DOID:0050791
MeSH 42 C536665
NCIt 47 C120188
SNOMED-CT 64 702358005
UMLS 69 C1849930

Summaries for Persistent Mullerian Duct Syndrome

NIH Rare Diseases : 50 persistent mullerian duct syndrome (pmds) is a disorder of sexual development that affects males. males with pmds have normal male reproductive organs and normal male external genitalia. however, they also have a uterus and fallopian tubes (female reproductive organs). the uterus and fallopian tubes develop from a structure called the müllerian duct, which is present in both male and female fetuses. it typically breaks down in males, but it remains in those with pmds. early signs of pmds may include undescended testes (cryptorchidism) or inguinal hernias. the uterus and fallopian tubes are often incidentally noticed during surgery to treat these conditions. other features of pmds may include 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). it 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. if not treated, undescended testes may degenerate or develop cancer. last updated: 6/19/2017

MalaCards based summary : Persistent Mullerian Duct Syndrome, also known as persistent oviduct syndrome, is related to persistent mullerian duct syndrome, type ii and pelizaeus-merzbacher disease, and has symptoms including cryptorchidism, inguinal hernia and male pseudohermaphroditism. An important gene associated with Persistent Mullerian Duct Syndrome is AMH (Anti-Mullerian Hormone), and among its related pathways/superpathways are PAK Pathway and Pathways in cancer. Affiliated tissues include uterus, testes and cervix, and related phenotypes are endocrine/exocrine gland and cardiovascular system

Disease Ontology : 12 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.

Related Diseases for Persistent Mullerian Duct Syndrome

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 46)
id Related Disease Score Top Affiliating Genes
1 persistent mullerian duct syndrome, type ii 12.4
2 pelizaeus-merzbacher disease 12.0
3 pelizaeus-merzbacher-like disease 11.0
4 spastic paraplegia 2, x-linked 11.0
5 diabetes insipidus, nephrogenic 10.6 AMH AMHR2
6 sphingolipidosis 10.5 AMH AMHR2 SRY
7 thymus mucoepidermoid carcinoma 10.5 AMH BMP15 SRY
8 capillary lymphangioma 10.4 AMH NR5A1 SRY
9 anterior spinal artery stroke 10.4 INSL3 NR5A1 SRY
10 spondylolysis 10.4 AMH BMP15 NR5A1
11 exotropia 10.4 WNT7A WT1
12 acute gonococcal salpingitis 10.3 BMP15 NR5A1 SRY
13 pseudopterygium 10.3 AMH BMP15 NR5A1
14 avoidant personality disorder 10.3 AMH BMP15 NR5A1 SRY
15 seminoma 10.2
16 inguinal hernia 10.2
17 splenic disease 10.1 INSL3 SOX9 SRY
18 vaginal discharge 10.1 SOX9 SRY
19 epithelioid trophoblastic tumor 10.1 KIT WT1
20 breast myoepithelial neoplasm 10.1 CTNNB1 WT1
21 adrenoleukodystrophy 10.1 AMH BMP15 NR5A1 WT1
22 brucella melitensis brucellosis 10.1 AMH AMHR2 SOX9 SRY
23 cryptorchidism 10.1
24 zika fever 10.0 FGFR2 WNT7A
25 diabetes mellitus, insulin-resistant, with acanthosis nigricans 10.0 AMH INSL3 NR5A1 WT1
26 spermatogenic failure, y-linked, 1 10.0 BMP15 NR5A1 SOX9 SRY
27 testicular seminoma 10.0
28 pseudohermaphroditism 10.0
29 wilms tumor 6 9.9 KIT WT1
30 idiopathic recurrent pericarditis 9.9 NR5A1 SOX9 SRY WT1
31 farmer's lung 9.8 NR5A1 SOX9 SRY WT1
32 endometriosis 1 9.8 AMH FGFR2 NOTCH2
33 tuberculosis 9.8
34 hydrocele 9.8
35 hypospadias 9.8
36 endometriosis 9.8
37 teratoma 9.8
38 desmoplastic small round cell tumor 9.7 CTNNB1 KIT
39 meacham syndrome 9.6 AMH NR5A1 SOX9 SRY WT1
40 brain stem infarction 9.5 CTNNB1 KIT
41 hyperbiliverdinemia 9.4 CTNNB1 NR5A1 SOX9 SRY WT1
42 nasal cavity squamous cell carcinoma 9.3 FGFR2 KIT WT1
43 hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation 9.2 KIT SOX9 SRY TSPY1 WT1
44 46 xx gonadal dysgenesis 9.1 AMH BMP15 NR5A1 SOX9 SRY TSPY1
45 tooth disease 8.7 FGFR2 INSL3 NR5A1 SOX9 SRY WT1
46 multiple synostoses syndrome 4.6 AMH 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 & Phenotypes for Persistent Mullerian Duct Syndrome

Human phenotypes related to Persistent Mullerian Duct Syndrome:

32
id Description HPO Frequency HPO Source Accession
1 cryptorchidism 32 hallmark (90%) HP:0000028
2 inguinal hernia 32 frequent (33%) HP:0000023
3 male pseudohermaphroditism 32 frequent (33%) HP:0000037

MGI Mouse Phenotypes related to Persistent Mullerian Duct Syndrome:

44 (show all 20)
id Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.39 AMH AMHR2 BMP15 BMP4 BMP5 CTNNB1
2 cardiovascular system MP:0005385 10.37 SOX9 WNT7A WT1 NOTCH2 NR5A1 AMHR2
3 embryo MP:0005380 10.34 KIT NOTCH2 NR5A1 SOX9 WNT7A WT1
4 cellular MP:0005384 10.28 INSL3 KIT NOTCH2 NR5A1 SOX9 WT1
5 growth/size/body region MP:0005378 10.28 CTNNB1 FGFR2 FURIN KIT NOTCH2 NR5A1
6 mortality/aging MP:0010768 10.23 NOTCH2 NR5A1 SOX9 WNT7A WT1 AMHR2
7 digestive/alimentary MP:0005381 10.17 BMP4 BMP5 CTNNB1 FGFR2 FURIN KIT
8 integument MP:0010771 10.16 AMHR2 BMP4 CTNNB1 FGFR2 FURIN KIT
9 limbs/digits/tail MP:0005371 10.15 BMP4 BMP5 CTNNB1 FGFR2 FURIN KIT
10 craniofacial MP:0005382 10.12 BMP4 BMP5 CTNNB1 FGFR2 KIT NOTCH2
11 liver/biliary system MP:0005370 10.08 BMP4 BMP5 CTNNB1 FGFR2 FURIN KIT
12 hearing/vestibular/ear MP:0005377 10.07 BMP4 BMP5 CTNNB1 FGFR2 KIT SOX9
13 no phenotypic analysis MP:0003012 10.02 AMH AMHR2 BMP4 CTNNB1 FGFR2 KIT
14 normal MP:0002873 10.02 BMP4 CTNNB1 FGFR2 FURIN KIT NOTCH2
15 reproductive system MP:0005389 10 FGFR2 INSL3 KIT NOTCH2 NR5A1 SOX9
16 muscle MP:0005369 9.98 BMP4 CTNNB1 FGFR2 KIT NOTCH2 SOX9
17 neoplasm MP:0002006 9.95 AMHR2 CTNNB1 FGFR2 KIT NOTCH2 WT1
18 renal/urinary system MP:0005367 9.91 AMHR2 BMP4 BMP5 CTNNB1 FGFR2 KIT
19 respiratory system MP:0005388 9.61 SOX9 WT1 AMHR2 BMP4 BMP5 CTNNB1
20 skeleton MP:0005390 9.28 BMP4 BMP5 CTNNB1 FGFR2 INSL3 KIT

Drugs & Therapeutics for Persistent Mullerian Duct Syndrome

Search Clinical Trials , NIH Clinical Center for Persistent Mullerian Duct Syndrome

Cochrane evidence based reviews: persistent müllerian duct syndrome

Genetic Tests for Persistent Mullerian Duct Syndrome

Genetic tests related to Persistent Mullerian Duct Syndrome:

id Genetic test Affiliating Genes
1 Persistent Mullerian Duct Syndrome 29

Anatomical Context for Persistent Mullerian Duct Syndrome

MalaCards organs/tissues related to Persistent Mullerian Duct Syndrome:

39
Uterus, Testes, Cervix, Testis, Kidney

Publications for Persistent Mullerian Duct Syndrome

Articles related to Persistent Mullerian Duct Syndrome:

(show top 50) (show all 68)
id Title Authors Year
1
REPLY BY THE AUTHORS: Re: Persistent Mullerian Duct Syndrome: a rare entity with a rare presentation in need of multidisciplinary management. ( 28792190 )
2017
2
MRI findings of Persistent Mullerian Duct Syndrome: A Rare Case Report. ( 28764266 )
2017
3
A rare case of male pseudohermaphroditism-persistent mullerian duct syndrome with transverse testicular ectopia - Case report and review of literature. ( 28645010 )
2017
4
Persistent Mullerian Duct Syndrome Presenting in an Incarcerated Recurrent Inguinal Hernia with Hydrocele. ( 28331809 )
2017
5
Re: Persistent Mullerian Duct Syndrome: a rare entity with a rare presentation in need of multidisciplinary management. ( 28792189 )
2017
6
Persistent mullerian duct syndrome presenting as retractile testis with hypospadias: A rare entity. ( 27326401 )
2016
7
Persistent Mullerian Duct Syndrome: a rare entity with a rare presentation in need of multidisciplinary management. ( 27532119 )
2016
8
Persistent Mullerian Duct Syndrome with Ovarian Endometriosis-A Rare Case Report. ( 27042476 )
2016
9
Persistent Mullerian Duct Syndrome with Embryonal Cell Carcinoma along with Ectopic Cross Fused Kidney. ( 26894123 )
2016
10
Persistent mullerian duct syndrome: A 24-year experience. ( 27329391 )
2016
11
Female form of persistent mullerian duct syndrome: Rare entity. ( 25657558 )
2015
12
A novel mutation of AMH in three siblings with persistent Mullerian duct syndrome. ( 26181047 )
2015
13
Persistent Mullerian Duct Syndrome with Transverse Testicular Ectopia. ( 27512542 )
2015
14
A case of testicular seminoma in persistent Mullerian duct syndrome with transverse testicular ectopia. ( 25504517 )
2015
15
Acute urinary retention caused by seminoma in a case of persistent Mullerian duct syndrome. ( 25673601 )
2015
16
Laparoscopic hysterectomy with bilateral orchidectomy for Persistent Mullerian duct syndrome with seminoma testes: Case report. ( 26622120 )
2015
17
Laparoscopic management of transverse testicular ectopia with persistent mullerian duct syndrome. ( 26195884 )
2015
18
Persistent Mullerian duct syndrome with transverse testicular ectopia and seminoma. ( 24554220 )
2014
19
Excision of Mullerian duct remnant for persistent Mullerian duct syndrome provides favorable short- and mid-term outcomes. ( 24594348 )
2014
20
Persistent mullerian duct syndrome: A case report and review of the literature. ( 25143891 )
2014
21
Persistent mullerian duct syndrome with transverse testicular ectopia: rare entity. ( 24783120 )
2014
22
A novel mutation of anti-Mullerian hormone gene in Persistent Mullerian Duct Syndrome presented with bilateral cryptorchidism: a case report. ( 23611722 )
2013
23
Indirect inguinal hernia with uterine tissue in a male: A case of persistent Mullerian duct syndrome and literature review. ( 23671501 )
2013
24
Persistent Mullerian Duct Syndrome: an interesting case report. ( 24045516 )
2013
25
Robot-assisted Laparoscopic Hysterectomy, Gonadal Biopsy, and Orchiopexies in an Infant With Persistent Mullerian Duct Syndrome. ( 24246315 )
2013
26
Persistent Mullerian duct syndrome with transverse testicular ectopia: rare presentation of inguinal hernia. ( 23801478 )
2013
27
Persistent Mullerian duct syndrome: a rare cause of unilateral cryptorchidism. ( 22977013 )
2012
28
Persistent mullerian duct syndrome in a patient with bilateral cryptorchid testes with seminoma. ( 23162363 )
2012
29
Male form of persistent Mullerian duct syndrome type I (hernia uteri inguinalis) presenting as an obstructed inguinal hernia: a case report. ( 22185203 )
2011
30
Persistent Mullerian duct syndrome with testicular seminoma: A report of two cases. ( 22022070 )
2011
31
Persistent mullerian duct syndrome in adult men diagnosed using laparoscopy. ( 21256537 )
2011
32
Persistent Mullerian duct syndrome: a case report and review of the literature. ( 20859029 )
2010
33
Persistent Mullerian duct syndrome: a case-based algorithm. ( 20509098 )
2010
34
Persistent Mullerian duct syndrome in a Miniature Schnauzer dog with signs of feminization and a Sertoli cell tumour. ( 18954385 )
2010
35
Persistent mullerian duct syndrome. ( 20352001 )
2010
36
Testicular fusion in a patient with transverse testicular ectopia and persistent mullerian duct syndrome. ( 20092878 )
2010
37
Transverse testicular ectopia and persistent Mullerian duct syndrome: video-assisted treatment. ( 19360556 )
2010
38
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
39
Persistent mullerian duct syndrome with an irreducible inguinal hernia. ( 20027561 )
2009
40
Laparoscopic management of persistent mullerian duct syndrome. ( 19735801 )
2009
41
Transverse testicular ectopia associated with persistent Mullerian duct syndrome - the role of imaging. ( 18559894 )
2008
42
Tuberculosis of transverse testicular ectopic testis associated with persistent mullerian duct syndrome. ( 18474165 )
2008
43
Combined persistent Mullerian Duct Syndrome, Transverse Testicular Ectopia and Mosaic Klinefelter's Syndrome. ( 18760051 )
2008
44
Three novel AMH gene mutations in a patient with persistent mullerian duct syndrome and normal AMH serum dosage. ( 18547961 )
2008
45
Persistent mullerian duct syndrome and transverse testicular ectopia: embryology, presentation, and management. ( 18082721 )
2007
46
Persistent mullerian duct syndrome with transverse testicular ectopia. ( 17333518 )
2007
47
Persistent Mullerian duct syndrome with transverse testicular ectopia presenting in an irreducible recurrent inguinal hernia. ( 17902529 )
2007
48
Persistent mullerian duct syndrome with transverse testicular ectopia. ( 15730845 )
2005
49
Persistent Mullerian duct syndrome with bilateral abdominal testis: surgical approach and review of the literature. ( 18947583 )
2005
50
Persistent Mullerian duct syndrome causing male pseudohermaphroditism in a mixed-breed dog. ( 15499815 )
2004

Variations for Persistent Mullerian Duct Syndrome

Expression for Persistent Mullerian Duct Syndrome

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

Pathways for Persistent Mullerian Duct Syndrome

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

(show all 16)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.1 BMP15 BMP4 BMP5 CTNNB1 FGFR2 KIT
2 12.45 BMP4 CTNNB1 FGFR2 KIT WNT7A
3
Show member pathways
12.18 BMP4 CTNNB1 KIT WNT7A
4
Show member pathways
12.16 BMP4 BMP5 CTNNB1 FGFR2 WNT7A
5 12.04 AMHR2 BMP4 CTNNB1 NOTCH2
6 11.82 BMP15 BMP4 BMP5 CTNNB1
7 11.81 BMP4 CTNNB1 FGFR2 WNT7A
8 11.8 BMP4 CTNNB1 NOTCH2
9 11.62 BMP4 NOTCH2 SOX9
10 11.54 BMP4 BMP5 KIT SOX9
11 11.54 AMH BMP4 BMP5 CTNNB1 WNT7A
12 11.38 AMH AMHR2 BMP4 BMP5
13 11.21 CTNNB1 SOX9 SRY
14 11.03 BMP4 CTNNB1 FGFR2 NOTCH2 SOX9
15 10.59 AMH AMHR2
16 10.41 BMP4 FURIN

GO Terms for Persistent Mullerian Duct Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.55 FGFR2 FURIN KIT NOTCH2 WNT7A
2 extracellular region GO:0005576 9.28 AMH BMP15 BMP4 BMP5 FGFR2 FURIN
3 nuclear transcription factor complex GO:0044798 8.96 CTNNB1 SOX9

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

(show top 50) (show all 87)
id Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.98 BMP4 BMP5 CTNNB1 SOX9
2 nucleosome assembly GO:0006334 9.94 SOX9 TSPY1 TSPY10
3 kidney development GO:0001822 9.94 BMP4 CTNNB1 WT1
4 lung development GO:0030324 9.93 BMP4 CTNNB1 FGFR2
5 ossification GO:0001503 9.93 BMP4 BMP5 SOX9
6 positive regulation of MAPK cascade GO:0043410 9.92 CTNNB1 FGFR2 KIT
7 positive regulation of transcription, DNA-templated GO:0045893 9.92 BMP15 BMP4 CTNNB1 NR5A1 SOX9 SRY
8 hemopoiesis GO:0030097 9.91 CTNNB1 KIT NOTCH2
9 positive regulation of gene expression GO:0010628 9.91 AMH BMP4 CTNNB1 KIT NR5A1 SOX9
10 somatic stem cell population maintenance GO:0035019 9.9 KIT SOX9 WNT7A
11 negative regulation of epithelial cell proliferation GO:0050680 9.9 BMP4 FGFR2 SOX9
12 SMAD protein signal transduction GO:0060395 9.89 BMP15 BMP4 BMP5
13 cellular response to transforming growth factor beta stimulus GO:0071560 9.88 FGFR2 SOX9 WNT7A
14 embryonic digit morphogenesis GO:0042733 9.88 BMP4 CTNNB1 WNT7A
15 stem cell population maintenance GO:0019827 9.88 CTNNB1 KIT NOTCH2
16 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.86 BMP15 BMP4 BMP5
17 ureteric bud development GO:0001657 9.85 BMP4 FGFR2 WT1
18 cartilage development GO:0051216 9.85 BMP4 BMP5 SOX9 WNT7A
19 cell differentiation GO:0030154 9.85 AMH BMP4 BMP5 CTNNB1 NOTCH2 NR5A1
20 chondrocyte differentiation GO:0002062 9.83 BMP4 SOX9 WNT7A
21 regulation of cell differentiation GO:0045595 9.83 BMP4 CTNNB1 SOX9
22 positive regulation of epithelial cell proliferation GO:0050679 9.83 BMP4 BMP5 FGFR2 SOX9
23 male gonad development GO:0008584 9.83 AMHR2 KIT NR5A1 SOX9 WT1
24 epithelial to mesenchymal transition GO:0001837 9.82 CTNNB1 FGFR2 SOX9
25 cell fate commitment GO:0045165 9.81 BMP4 FGFR2 SOX9 WNT7A
26 branching involved in ureteric bud morphogenesis GO:0001658 9.8 BMP4 CTNNB1 SOX9 WT1
27 positive regulation of mesenchymal cell proliferation GO:0002053 9.79 CTNNB1 FGFR2 SOX9
28 embryonic hindlimb morphogenesis GO:0035116 9.78 BMP4 CTNNB1 WNT7A
29 anterior/posterior axis specification GO:0009948 9.76 BMP4 CTNNB1
30 cell fate determination GO:0001709 9.76 CTNNB1 NOTCH2
31 cell fate specification GO:0001708 9.76 CTNNB1 SOX9
32 positive regulation of cartilage development GO:0061036 9.76 BMP4 SOX9
33 positive regulation of endothelial cell differentiation GO:0045603 9.76 BMP4 CTNNB1
34 regulation of osteoblast differentiation GO:0045667 9.75 CTNNB1 FGFR2
35 smooth muscle cell differentiation GO:0051145 9.75 BMP4 CTNNB1
36 gonad development GO:0008406 9.75 AMH WT1
37 mesodermal cell differentiation GO:0048333 9.75 BMP4 FGFR2
38 male genitalia development GO:0030539 9.75 BMP5 CTNNB1 WT1
39 type B pancreatic cell development GO:0003323 9.74 BMP4 BMP5
40 male sex determination GO:0030238 9.74 SOX9 SRY
41 morphogenesis of embryonic epithelium GO:0016331 9.74 CTNNB1 FGFR2
42 pulmonary valve morphogenesis GO:0003184 9.74 BMP4 NOTCH2
43 limb bud formation GO:0060174 9.74 FGFR2 SOX9
44 negative regulation of chondrocyte differentiation GO:0032331 9.74 BMP4 CTNNB1 SOX9
45 lung-associated mesenchyme development GO:0060484 9.73 CTNNB1 FGFR2
46 somatic stem cell division GO:0048103 9.73 KIT WNT7A
47 regulation of smooth muscle cell proliferation GO:0048660 9.73 BMP4 CTNNB1
48 membranous septum morphogenesis GO:0003149 9.73 BMP4 FGFR2
49 tissue development GO:0009888 9.73 BMP4 NR5A1 WT1
50 regulation of branching involved in prostate gland morphogenesis GO:0060687 9.72 BMP4 FGFR2

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

id Name GO ID Score Top Affiliating Genes
1 protease binding GO:0002020 9.54 FURIN INSL3 KIT
2 cytokine activity GO:0005125 9.46 BMP15 BMP4 BMP5 WNT7A
3 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.43 NR5A1 SOX9 SRY
4 BMP receptor binding GO:0070700 9.32 BMP4 BMP5
5 growth factor activity GO:0008083 9.26 AMH BMP15 BMP4 BMP5
6 transforming growth factor beta receptor binding GO:0005160 8.92 AMH BMP15 BMP4 BMP5

Sources for Persistent Mullerian Duct Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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