MCID: PSD009
MIFTS: 42

Pseudohermaphroditism

Categories: Endocrine diseases, Reproductive diseases

Aliases & Classifications for Pseudohermaphroditism

MalaCards integrated aliases for Pseudohermaphroditism:

Name: Pseudohermaphroditism 12 76 55 6 15
Indeterminate Sex and Pseudohermaphroditism 12

Classifications:



External Ids:

Disease Ontology 12 DOID:3765
ICD10 33 Q56 Q56.3
ICD9CM 35 752.7
MeSH 44 D012734
NCIt 50 C124575
SNOMED-CT 68 75164001

Summaries for Pseudohermaphroditism

MalaCards based summary : Pseudohermaphroditism, also known as indeterminate sex and pseudohermaphroditism, is related to pseudovaginal perineoscrotal hypospadias and leydig cell hypoplasia. An important gene associated with Pseudohermaphroditism is LHCGR (Luteinizing Hormone/Choriogonadotropin Receptor), and among its related pathways/superpathways are Nuclear Receptor transcription pathway and Regulation of Androgen receptor activity. Affiliated tissues include testis, ovary and testes, and related phenotypes are Decreased caspase 3/7 activity and cellular

Wikipedia : 76 Pseudohermaphroditism, or pseudo-hermaphroditism, is an old clinical term for an organism that is born... more...

Related Diseases for Pseudohermaphroditism

Diseases related to Pseudohermaphroditism via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 123)
# Related Disease Score Top Affiliating Genes
1 pseudovaginal perineoscrotal hypospadias 33.2 AR CYP17A1 LHCGR SRD5A2
2 leydig cell hypoplasia 33.2 HSD17B3 LHCGR
3 denys-drash syndrome 32.9 NR5A1 WT1
4 persistent mullerian duct syndrome, types i and ii 32.5 AMH AMHR2
5 lipoid congenital adrenal hyperplasia 32.0 CYP17A1 CYP19A1 HSD3B2 NR5A1 SRY
6 androgen insensitivity, partial 31.9 AR CYP19A1
7 persistent mullerian duct syndrome 31.2 AMH AMHR2 NR5A1 SRY WT1
8 frasier syndrome 31.2 AMH NR5A1 SRY WT1
9 androgen insensitivity syndrome 31.1 AR NR5A1 SRD5A2 SRY
10 hermaphroditism 30.8 AR SRD5A2 SRY
11 precocious puberty 30.2 CYP19A1 LHCGR
12 gynecomastia 30.2 AR CYP19A1 HSD17B3 SRY
13 gonadoblastoma 30.0 SRY WT1
14 anorchia 30.0 NR5A1 SRY
15 46,xy partial gonadal dysgenesis 29.9 NR5A1 SRY WT1
16 prostatic hyperplasia, benign 29.9 AR CYP17A1 SRD5A2
17 46,xx sex reversal 1 29.8 NR5A1 SRY
18 gonadal dysgenesis 29.8 AMH NR5A1 SRY WT1
19 mixed gonadal dysgenesis 29.7 AMH AMHR2 SRY
20 adrenocortical carcinoma, hereditary 29.7 CYP17A1 CYP19A1 NR5A1
21 leydig cell tumor 29.6 CYP17A1 CYP19A1 LHCGR NR5A1
22 ovarian disease 29.5 AMH CYP19A1 LHCGR NR5A1
23 hypospadias 28.7 AR CYP17A1 HSD17B3 HSD3B2 LHCGR NR5A1
24 male pseudohermaphroditism/mental retardation syndrome, verloes type 12.2
25 aromatase deficiency 12.1
26 pseudohermaphroditism, female, with skeletal anomalies 12.1
27 leydig cell hypoplasia, type i 12.1
28 chondrodysplasia-pseudohermaphroditism syndrome 12.0
29 male pseudohermaphroditism intellectual disability syndrome, verloes type 12.0
30 male pseudohermaphroditism due to defective lh molecule 12.0
31 17-beta hydroxysteroid dehydrogenase iii deficiency 11.7
32 5-alpha reductase deficiency 11.6
33 adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency 11.3
34 genitopalatocardiac syndrome 11.3
35 46,xy sex reversal 8 11.3
36 aromatase excess syndrome 11.0
37 meacham syndrome 11.0
38 meacham winn culler syndrome 11.0
39 wilms tumor 6 10.3
40 hypogonadotropic hypogonadism 23 without anosmia 10.3
41 testotoxicosis 10.2 CYP19A1 LHCGR
42 precocious puberty, male-limited 10.2 CYP19A1 LHCGR
43 gender identity disorder 10.2 AR CYP19A1
44 peritoneal benign neoplasm 10.2 AR WT1
45 diffuse peritoneal leiomyomatosis 10.2 AR WT1
46 mammographic density 10.1 CYP17A1 CYP19A1
47 46,xy gonadal dysgenesis, partial, with minifascicular neuropathy 10.1
48 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 10.1
49 46,xx disorder of sex development-anorectal anomalies syndrome 10.1
50 androgenic alopecia 10.1 AR CYP19A1

Graphical network of the top 20 diseases related to Pseudohermaphroditism:



Diseases related to Pseudohermaphroditism

Symptoms & Phenotypes for Pseudohermaphroditism

GenomeRNAi Phenotypes related to Pseudohermaphroditism according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased caspase 3/7 activity GR00318-A 8.8 AR LHCGR NR3C1

MGI Mouse Phenotypes related to Pseudohermaphroditism:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.92 AMHR2 AR CYP17A1 CYP19A1 LHCGR NR3C1
2 cardiovascular system MP:0005385 9.91 AMHR2 AR CYP19A1 LHCGR NR3C1 NR5A1
3 endocrine/exocrine gland MP:0005379 9.91 AMH AMHR2 AR CYP19A1 LHCGR NR3C1
4 homeostasis/metabolism MP:0005376 9.81 AMH AMHR2 AR CYP17A1 CYP19A1 LHCGR
5 adipose tissue MP:0005375 9.8 AR CYP17A1 CYP19A1 LHCGR NR3C1
6 renal/urinary system MP:0005367 9.5 AMHR2 AR CYP17A1 CYP19A1 LHCGR NR3C1
7 reproductive system MP:0005389 9.32 AMH AMHR2 AR CYP17A1 CYP19A1 LHCGR

Drugs & Therapeutics for Pseudohermaphroditism

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Mutation Analysis of 17╬▓hydroxysteroid Dehydrogenase 3 Deficiency Unknown status NCT00173654
2 Mutation Analysis of 17╬▒-Hydroxylase Unknown status NCT00172510

Search NIH Clinical Center for Pseudohermaphroditism

Genetic Tests for Pseudohermaphroditism

Anatomical Context for Pseudohermaphroditism

MalaCards organs/tissues related to Pseudohermaphroditism:

41
Testis, Ovary, Testes, Skin, Kidney, Heart, Prostate

Publications for Pseudohermaphroditism

Articles related to Pseudohermaphroditism:

(show top 50) (show all 485)
# Title Authors Year
1
Characterization of anti-MA1llerian hormone in a case of bovine male pseudohermaphroditism. ( 29427350 )
2018
2
A rare case of male pseudohermaphroditism-persistent mullerian duct syndrome with transverse testicular ectopia - Case report and review of literature. ( 28645010 )
2017
3
Male Pseudohermaphroditism: Ambiguous genitalia. ( 27617556 )
2016
4
Effects of feminizing reconstructive surgery on sexual function and genital sensitivity in patients with female pseudohermaphroditism versus healthy control. ( 27172824 )
2016
5
Congenital adrenal hyperplasia and vanishing testis: rare case of male pseudohermaphroditism. ( 27294221 )
2016
6
Idiopathic female pseudohermaphroditism with urethral duplication and female hypospadias. ( 26965407 )
2016
7
Congenital Adrenal Hyperplasia due to 17-alpha-hydoxylase/17,20-lyase Deficiency Presenting with Hypertension and Pseudohermaphroditism: First Case Report from Oman. ( 24498484 )
2014
8
Female pseudohermaphroditism: strategy and bias in a fast diagnosis. How tricky could be a diagnosis with a wrong anamnesis. ( 25599724 )
2014
9
A unique case of female pseudohermaphroditism with 21-hydroxylase deficiency and small supernumerary marker chromosome 7. ( 23450434 )
2013
10
A rare adolescent case of female pseudohermaphroditism with adrenocortical carcinoma and synchronous teratoma. ( 23528907 )
2013
11
WT1 microdeletion and slowly progressing focal glomerulosclerosis in a patient with male pseudohermaphroditism, childhood leukemia, Wilms tumor and cerebellar angioblastoma. ( 23618379 )
2013
12
Female pseudohermaphroditism in a prenatally diagnosed cloacal malformation with hydronephrosis, dilated bladder, hydrometrocolpos, and oligohydramnios. ( 24411046 )
2013
13
Female pseudohermaphroditism associated with maternal steroid cell tumor, not otherwise specified of the ovary: a case report and literature review. ( 24597265 )
2013
14
Two cases of pseudohermaphroditism in loggerhead sea turtles Caretta caretta. ( 23999702 )
2013
15
Male pseudohermaphroditism presented with sudden cardiac arrest. ( 22477014 )
2012
16
Tetralogy of fallot associated with dysplastic kidneys, cloacal anomalies, and female pseudohermaphroditism: a systemic anomaly of septation? ( 22811944 )
2012
17
Two-step surgery for a unique case of idiopathic female pseudohermaphroditism. Surgical treatment in an exceptional combined uro-genital malformation. ( 23110911 )
2012
18
Male pseudohermaphroditism with mixed germ cell tumor. ( 21298767 )
2011
19
Clinical, genetic, and pathological features of male pseudohermaphroditism in dog. ( 21255434 )
2011
20
Male pseudohermaphroditism as a cause of secondary hypertension: a case report. ( 20960109 )
2010
21
Mutational analysis of androgen receptor gene in four Chinese patients with male pseudohermaphroditism. ( 20056211 )
2010
22
Staged reconstruction of the labia minora and reduction clitoroplasty for female pseudohermaphroditism. ( 20414773 )
2010
23
Persistent cloaca, fused kidneys, female pseudohermaphroditism and skeletal anomalies in a simmental calf. ( 19469769 )
2009
24
Activation of the Hedgehog pathway in the mouse fetal ovary leads to ectopic appearance of fetal Leydig cells and female pseudohermaphroditism. ( 19268447 )
2009
25
A splice site mutation combined with a novel missense mutation of LHCGR cause male pseudohermaphroditism. ( 19551906 )
2009
26
Mutations in a novel, cryptic exon of the luteinizing hormone/chorionic gonadotropin receptor gene cause male pseudohermaphroditism. ( 18433292 )
2008
27
Identification of mutations in the SRD5A2 gene in Thai patients with male pseudohermaphroditism. ( 18314109 )
2008
28
Laparoscopy and intersex: report of 5 cases of male pseudohermaphroditism. ( 18319558 )
2008
29
Molecular diagnosis of 5alpha-reductase-2 gene mutation in two Indian families with male pseudohermaphroditism. ( 18097518 )
2008
30
Rare association of female pseudohermaphroditism, phallic urethra, and posterior cloaca. ( 16516639 )
2006
31
Male pseudohermaphroditism in a Labrador Retriever, and a review of mammalian sexual differentiation. ( 17028664 )
2006
32
Male pseudohermaphroditism and gonadal mosaicism in a 47,XY,+22 fetus. ( 16835917 )
2006
33
Complex urogenital malformation associated with female pseudohermaphroditism: caudal dysgenesis syndrome. ( 17128566 )
2006
34
A novel frameshift mutation in the 5alpha-reductase type 2 gene in Korean sisters with male pseudohermaphroditism. ( 16500352 )
2006
35
Long-term surgical results and patient satisfaction with male pseudohermaphroditism or true hermaphroditism: a cohort of 63 patients. ( 16600787 )
2006
36
XY male pseudohermaphroditism in a captive Arabian oryx (Oryx leucoryx). ( 17312771 )
2005
37
17alpha-hydroxylase/17,20-Lyase deficiency due to novel compound heterozygote mutations: treatment for tall stature in a female with male pseudohermaphroditism and spontaneous puberty in her affected sister. ( 15844475 )
2005
38
Idiopathic male pseudohermaphroditism is associated with prenatal growth retardation. ( 15711770 )
2005
39
Male pseudohermaphroditism. ( 19810311 )
2005
40
A novel missense mutation of 5-alpha reductase type 2 gene (SRD5A2) leads to severe male pseudohermaphroditism in a Turkish family. ( 16098368 )
2005
41
[Rare forms of female pseudohermaphroditism: when to investigate?]. ( 16544044 )
2005
42
Idiopathic male pseudohermaphroditism: variations in presentation and management. ( 16042324 )
2005
43
Enlarged clitoris in wild polar bears (Ursus maritimus) can be misdiagnosed as pseudohermaphroditism. ( 15626378 )
2005
44
Female pseudohermaphroditism due to classical 21-hydroxylase deficiency and insulin resistance in a girl with Turner syndrome. ( 16052861 )
2005
45
A novel double mutation in the luteinizing hormone receptor in a kindred with familial Leydig cell hypoplasia and male pseudohermaphroditism. ( 16433250 )
2005
46
Male Pseudohermaphroditism in a raccoon dog (Nyctereutes procynoides). ( 15997188 )
2005
47
Male pseudohermaphroditism: long-term quality of life outcome in five 46,XY individuals reared female. ( 15270399 )
2004
48
Female pseudohermaphroditism with phallic urethra in the offspring of a mother with an adrenal tumor. ( 15570996 )
2004
49
Two cases of spontaneous pseudohermaphroditism in Cynomolgus monkeys (Macaca fascicularis). ( 15533116 )
2004
50
Congenital adrenal hypoplasia and male pseudohermaphroditism due to DAX1 mutation, SF1 mutation or neither: a patient report. ( 15379426 )
2004

Variations for Pseudohermaphroditism

ClinVar genetic disease variations for Pseudohermaphroditism:

6 (show all 28)
# Gene Variation Type Significance SNP ID Assembly Location
1 HSD17B3 NM_000197.1(HSD17B3): c.239G> A (p.Arg80Gln) single nucleotide variant Pathogenic rs119481075 GRCh37 Chromosome 9, 99017188: 99017188
2 HSD17B3 NM_000197.1(HSD17B3): c.239G> A (p.Arg80Gln) single nucleotide variant Pathogenic rs119481075 GRCh38 Chromosome 9, 96254906: 96254906
3 HSD17B3 NM_000197.1(HSD17B3): c.608C> T (p.Ala203Val) single nucleotide variant Pathogenic rs119481076 GRCh37 Chromosome 9, 99006675: 99006675
4 HSD17B3 NM_000197.1(HSD17B3): c.608C> T (p.Ala203Val) single nucleotide variant Pathogenic rs119481076 GRCh38 Chromosome 9, 96244393: 96244393
5 HSD17B3 NM_000197.1(HSD17B3): c.238C> T (p.Arg80Trp) single nucleotide variant Likely pathogenic rs119481077 GRCh37 Chromosome 9, 99017189: 99017189
6 HSD17B3 NM_000197.1(HSD17B3): c.238C> T (p.Arg80Trp) single nucleotide variant Likely pathogenic rs119481077 GRCh38 Chromosome 9, 96254907: 96254907
7 HSD17B3 NM_000197.1(HSD17B3): c.277+4A> T single nucleotide variant Pathogenic rs201115371 GRCh37 Chromosome 9, 99017146: 99017146
8 HSD17B3 NM_000197.1(HSD17B3): c.277+4A> T single nucleotide variant Pathogenic rs201115371 GRCh38 Chromosome 9, 96254864: 96254864
9 HSD17B3 NM_000197.1(HSD17B3): c.845C> T (p.Pro282Leu) single nucleotide variant Pathogenic rs144809928 GRCh37 Chromosome 9, 98997830: 98997830
10 HSD17B3 NM_000197.1(HSD17B3): c.845C> T (p.Pro282Leu) single nucleotide variant Pathogenic rs144809928 GRCh38 Chromosome 9, 96235548: 96235548
11 LHCGR NM_000233.3(LHCGR): c.580T> G (p.Phe194Val) single nucleotide variant Pathogenic rs750481017 GRCh38 Chromosome 2, 48714011: 48714011
12 LHCGR NM_000233.3(LHCGR): c.580T> G (p.Phe194Val) single nucleotide variant Pathogenic rs750481017 GRCh37 Chromosome 2, 48941150: 48941150
13 HSD17B3 NM_000197.1(HSD17B3): c.614T> A (p.Val205Glu) single nucleotide variant Pathogenic rs372027264 GRCh37 Chromosome 9, 99006669: 99006669
14 HSD17B3 NM_000197.1(HSD17B3): c.614T> A (p.Val205Glu) single nucleotide variant Pathogenic rs372027264 GRCh38 Chromosome 9, 96244387: 96244387
15 HSD17B3 NM_000197.1(HSD17B3): c.578C> A (p.Pro193His) single nucleotide variant Likely pathogenic rs773720185 GRCh37 Chromosome 9, 99007655: 99007655
16 HSD17B3 NM_000197.1(HSD17B3): c.578C> A (p.Pro193His) single nucleotide variant Likely pathogenic rs773720185 GRCh38 Chromosome 9, 96245373: 96245373
17 HSD17B3 NM_000197.1(HSD17B3): c.454-1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 9, 96249787: 96249787
18 HSD17B3 NM_000197.1(HSD17B3): c.454-1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 9, 99012069: 99012069
19 HSD17B3 NM_000197.1(HSD17B3): c.414_416delTCT (p.Leu139del) deletion Likely pathogenic GRCh37 Chromosome 9, 99013737: 99013739
20 HSD17B3 NM_000197.1(HSD17B3): c.414_416delTCT (p.Leu139del) deletion Likely pathogenic GRCh38 Chromosome 9, 96251455: 96251457
21 HSD17B3 NM_000197.1(HSD17B3): c.397G> A (p.Gly133Arg) single nucleotide variant Pathogenic rs747724352 GRCh37 Chromosome 9, 99013756: 99013756
22 HSD17B3 NM_000197.1(HSD17B3): c.397G> A (p.Gly133Arg) single nucleotide variant Pathogenic rs747724352 GRCh38 Chromosome 9, 96251474: 96251474
23 HSD17B3 NM_000197.1(HSD17B3): c.383T> C (p.Leu128Ser) single nucleotide variant Likely pathogenic rs767765046 GRCh37 Chromosome 9, 99015087: 99015087
24 HSD17B3 NM_000197.1(HSD17B3): c.383T> C (p.Leu128Ser) single nucleotide variant Likely pathogenic rs767765046 GRCh38 Chromosome 9, 96252805: 96252805
25 HSD17B3 NM_000197.1(HSD17B3): c.278-1G> C single nucleotide variant Likely pathogenic rs149607031 GRCh37 Chromosome 9, 99015193: 99015193
26 HSD17B3 NM_000197.1(HSD17B3): c.278-1G> C single nucleotide variant Likely pathogenic rs149607031 GRCh38 Chromosome 9, 96252911: 96252911
27 HSD17B3 NM_000197.1(HSD17B3): c.121_122delAA (p.Lys41Valfs) deletion Pathogenic GRCh37 Chromosome 9, 99064265: 99064266
28 HSD17B3 NM_000197.1(HSD17B3): c.121_122delAA (p.Lys41Valfs) deletion Pathogenic GRCh38 Chromosome 9, 96301983: 96301984

Expression for Pseudohermaphroditism

Search GEO for disease gene expression data for Pseudohermaphroditism.

Pathways for Pseudohermaphroditism

GO Terms for Pseudohermaphroditism

Cellular components related to Pseudohermaphroditism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.35 CYP17A1 CYP19A1 HSD17B3 HSD3B2 SRD5A2
2 nuclear speck GO:0016607 8.92 AR NR3C1 SRY WT1

Biological processes related to Pseudohermaphroditism according to GeneCards Suite gene sharing:

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.96 CYP17A1 CYP19A1 HSD17B3 HSD3B2 SRD5A2
2 transcription by RNA polymerase II GO:0006366 9.95 NR3C1 NR5A1 SRY WT1
3 positive regulation of gene expression GO:0010628 9.9 AMH AR NR5A1 WT1
4 cell-cell signaling GO:0007267 9.82 AMH AR SRD5A2
5 transcription, DNA-templated GO:0006351 9.81 AR NR3C1 NR5A1
6 transcription initiation from RNA polymerase II promoter GO:0006367 9.8 AR NR3C1 NR5A1
7 steroid biosynthetic process GO:0006694 9.65 CYP17A1 CYP19A1 HSD17B3 HSD3B2 SRD5A2
8 intracellular receptor signaling pathway GO:0030522 9.64 AR NR5A1
9 female gonad development GO:0008585 9.63 AMHR2 CYP19A1 NR5A1
10 sterol metabolic process GO:0016125 9.62 CYP17A1 CYP19A1
11 male genitalia development GO:0030539 9.62 HSD17B3 LHCGR SRD5A2 WT1
12 tissue development GO:0009888 9.61 NR5A1 WT1
13 adrenal gland development GO:0030325 9.61 NR5A1 WT1
14 positive regulation of male gonad development GO:2000020 9.61 NR5A1 SRY WT1
15 androgen metabolic process GO:0008209 9.59 CYP19A1 SRD5A2
16 cellular response to steroid hormone stimulus GO:0071383 9.58 AR NR3C1
17 gonad development GO:0008406 9.58 AMH WT1
18 sex determination GO:0007530 9.58 AMH NR5A1 WT1
19 male sex determination GO:0030238 9.57 NR5A1 SRY
20 glucocorticoid biosynthetic process GO:0006704 9.55 CYP17A1 HSD3B2
21 cellular response to gonadotropin stimulus GO:0071371 9.54 LHCGR WT1
22 testosterone biosynthetic process GO:0061370 9.54 CYP19A1 HSD17B3 SRD5A2
23 prostate gland growth GO:0060736 9.52 AR CYP19A1
24 female genitalia development GO:0030540 9.51 CYP19A1 SRD5A2
25 Mullerian duct regression GO:0001880 9.49 AMH AMHR2
26 negative regulation of female gonad development GO:2000195 9.48 NR5A1 WT1
27 androgen biosynthetic process GO:0006702 9.46 CYP17A1 HSD17B3 HSD3B2 SRD5A2
28 male gonad development GO:0008584 9.43 AMHR2 AR LHCGR NR5A1 SRD5A2 WT1
29 sex differentiation GO:0007548 9.1 AMH AMHR2 AR CYP17A1 SRD5A2 SRY
30 positive regulation of transcription by RNA polymerase II GO:0045944 10.03 AR NR3C1 NR5A1 SRY WT1

Molecular functions related to Pseudohermaphroditism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.72 AR NR3C1 NR5A1 SRY WT1
2 proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001077 9.56 AR NR3C1 SRY WT1
3 oxidoreductase activity GO:0016491 9.55 CYP17A1 CYP19A1 HSD17B3 HSD3B2 SRD5A2
4 oxygen binding GO:0019825 9.4 CYP17A1 CYP19A1
5 steroid binding GO:0005496 9.37 AR NR3C1
6 steroid hormone receptor activity GO:0003707 9.13 AR NR3C1 NR5A1
7 nuclear receptor activity GO:0004879 8.8 AR NR3C1 NR5A1

Sources for Pseudohermaphroditism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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