AH2
MCID: ADR048
MIFTS: 37

Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency (AH2)

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

Aliases & Classifications for Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid...

MalaCards integrated aliases for Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency:

Name: Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency 57 74
3-Beta-Hsd Deficiency 57 74
Adrenal Hyperplasia 2 74 72
Congenital Adrenal Hyperplasia Due to 3-Beta-Hydroxysteroid Dehydrogenase Type Ii Deficiency 74
Congenital Adrenal Hyperplasia Due to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 59
Cah Due to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 59
3-Beta-Hydroxysteroid Dehydrogenase Type Ii Deficiency 74
3 Beta-Hydroxysteroid Dehydrogenase Deficiency 72
3-Beta-Hsd Deficiency; Hsdb 57
Adrenal Hyperplasia Type Ii 74
Adrenal Hyperplasia Ii 57
Ah-Ii 74
Hsdb 57
Ah2 74

Characteristics:

Orphanet epidemiological data:

59
congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 201810
MeSH 44 D000312
ICD10 via Orphanet 34 E25.0
Orphanet 59 ORPHA90791
MedGen 42 C0342471
UMLS 72 C0342471 C2931782

Summaries for Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid...

OMIM : 57 Classic 3-beta-hydroxysteroid dehydrogenase deficiency is an autosomal recessive form of CAH characterized by a severe impairment of steroid biosynthesis in both the adrenals and the gonads, resulting in decreased excretion of cortisol and aldosterone and of progesterone, androgens, and estrogens by these tissues. Affected newborns exhibit signs and symptoms of glucocorticoid and mineralocorticoid deficiencies, which may be fatal if not diagnosed and treated early, especially in the severe salt-wasting form. Moreover, male newborns exhibit pseudohermaphroditism with incomplete masculinization of the external genitalia due to an impairment of androgen biosynthesis in the testis. In contrast, affected females exhibit normal sexual differentiation or partial virilization (summary by Rheaume et al., 1992). (201810)

MalaCards based summary : Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency, also known as 3-beta-hsd deficiency, is related to acth-independent macronodular adrenal hyperplasia 2 and 3-beta-hydroxysteroid dehydrogenase deficiency. An important gene associated with Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency is HSD3B2 (Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- And Steroid Delta-Isomerase 2). The drugs Racepinephrine and Epinephrine have been mentioned in the context of this disorder. Affiliated tissues include testis, ovary and bone, and related phenotypes are hypotension and delayed skeletal maturation

UniProtKB/Swiss-Prot : 74 Adrenal hyperplasia 2: A form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: 'salt wasting' (SW, the most severe type), 'simple virilizing' (SV, less severely affected patients), with normal aldosterone biosynthesis, 'non-classic form' or late-onset (NC or LOAH) and 'cryptic' (asymptomatic). In AH2, virilization is much less marked or does not occur. AH2 is frequently lethal in early life.

Related Diseases for Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid...

Diseases related to Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 acth-independent macronodular adrenal hyperplasia 2 12.8
2 3-beta-hydroxysteroid dehydrogenase deficiency 11.4
3 acth-independent macronodular adrenal hyperplasia 11.4
4 hepatitis c virus 10.6
5 helix syndrome 10.5
6 lipoid congenital adrenal hyperplasia 10.0
7 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency 9.8

Graphical network of the top 20 diseases related to Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency:



Diseases related to Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency

Symptoms & Phenotypes for Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid...

Human phenotypes related to Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency:

59 32 (show top 50) (show all 66)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypotension 59 32 hallmark (90%) Very frequent (99-80%) HP:0002615
2 delayed skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002750
3 delayed puberty 59 32 hallmark (90%) Very frequent (99-80%) HP:0000823
4 dehydration 59 32 hallmark (90%) Very frequent (99-80%) HP:0001944
5 vomiting 59 32 hallmark (90%) Very frequent (99-80%) HP:0002013
6 osteoporosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000939
7 feeding difficulties 59 32 hallmark (90%) Very frequent (99-80%) HP:0011968
8 cryptorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000028
9 hyponatremia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002902
10 abnormality of the menstrual cycle 59 32 hallmark (90%) Very frequent (99-80%) HP:0000140
11 generalized hyperpigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007440
12 male pseudohermaphroditism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000037
13 hyperkalemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002153
14 neonatal hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001998
15 accelerated skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0005616
16 ambiguous genitalia, male 59 32 hallmark (90%) Very frequent (99-80%) HP:0000033
17 perineal hypospadias 59 32 hallmark (90%) Very frequent (99-80%) HP:0000051
18 urogenital sinus anomaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0100779
19 renal salt wasting 59 32 hallmark (90%) Very frequent (99-80%) HP:0000127
20 increased circulating renin level 59 32 hallmark (90%) Very frequent (99-80%) HP:0000848
21 acidosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001941
22 decreased circulating aldosterone level 59 32 hallmark (90%) Very frequent (99-80%) HP:0004319
23 increased circulating acth level 59 32 hallmark (90%) Very frequent (99-80%) HP:0003154
24 hypernatriuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0012605
25 decreased circulating cortisol level 59 32 hallmark (90%) Very frequent (99-80%) HP:0008163
26 elevated circulating follicle stimulating hormone level 59 32 hallmark (90%) Very frequent (99-80%) HP:0008232
27 female external genitalia in individual with 46,xy karyotype 59 32 hallmark (90%) Very frequent (99-80%) HP:0008730
28 hypovolemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0011106
29 adrenocorticotropic hormone excess 59 32 hallmark (90%) Very frequent (99-80%) HP:0011749
30 elevated circulating luteinizing hormone level 59 32 hallmark (90%) Very frequent (99-80%) HP:0011969
31 abnormal sex determination 59 32 hallmark (90%) Very frequent (99-80%) HP:0012244
32 premature adrenarche 59 32 hallmark (90%) Very frequent (99-80%) HP:0012412
33 abnormal oral glucose tolerance 59 32 hallmark (90%) Very frequent (99-80%) HP:0004924
34 adrenogenital syndrome 59 32 hallmark (90%) Very frequent (99-80%) HP:0000840
35 androgen insufficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0008226
36 congenital adrenal hyperplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008258
37 absence of secondary sex characteristics 59 32 frequent (33%) Frequent (79-30%) HP:0008187
38 decreased testicular size 59 32 frequent (33%) Frequent (79-30%) HP:0008734
39 bifid scrotum 59 32 frequent (33%) Frequent (79-30%) HP:0000048
40 gynecomastia 59 32 frequent (33%) Frequent (79-30%) HP:0000771
41 enlarged polycystic ovaries 59 32 frequent (33%) Frequent (79-30%) HP:0008675
42 decreased fertility in females 59 32 frequent (33%) Frequent (79-30%) HP:0000868
43 decreased fertility in males 59 32 frequent (33%) Frequent (79-30%) HP:0012041
44 insulin resistance 59 32 frequent (33%) Frequent (79-30%) HP:0000855
45 ambiguous genitalia, female 59 32 frequent (33%) Frequent (79-30%) HP:0000061
46 hyperpigmented genitalia 59 32 frequent (33%) Frequent (79-30%) HP:0030258
47 clitoral hypertrophy 32 frequent (33%) HP:0008665
48 acne 59 32 occasional (7.5%) Occasional (29-5%) HP:0001061
49 hirsutism 59 32 occasional (7.5%) Occasional (29-5%) HP:0001007
50 abnormality of the labia majora 59 32 occasional (7.5%) Occasional (29-5%) HP:0012881

Symptoms via clinical synopsis from OMIM:

57
Genitourinary External Genitalia Male:
hypospadias
micropenis
bifid scrotum
ambiguous genitalia
absent scrotum
more
Endocrine Features:
premature pubarche
elevated baseline 17-hydroxypregnenolone levels
elevated acth-stimulated 17-hydroxypregnenolone levels
elevated acth-stimulated 17-hydroxypregnenolone to cortisol ratios
elevated dehydroepiandrosterone (dhea, in some patients)

Genitourinary External Genitalia Female:
ambiguous genitalia

Genitourinary Kidneys:
salt-wasting disorder (in some patients)

Clinical features from OMIM:

201810

Drugs & Therapeutics for Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid...

Drugs for Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 20)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Racepinephrine Approved 329-65-7 838
2
Epinephrine Approved, Vet_approved 51-43-4 5816
3 Neurotransmitter Agents
4 Sympathomimetics
5 Adrenergic Agonists
6 Androgens
7 Adrenergic beta-Agonists
8 Adrenergic alpha-Agonists
9 Hormones
10 Epinephryl borate
11 Mydriatics
12 Peripheral Nervous System Agents
13 Respiratory System Agents
14 Hormone Antagonists
15 Adrenergic Agents
16 Anti-Asthmatic Agents
17 Vasoconstrictor Agents
18 Autonomic Agents
19 Bronchodilator Agents
20 Hormones, Hormone Substitutes, and Hormone Antagonists

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Cross-Sectional Multi-Centre Study of UK Adults With Congenital Adrenal Hyperplasia. Completed NCT00749593
2 Natural History Study of Patients With Excess Androgen Enrolling by invitation NCT00250159

Search NIH Clinical Center for Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency

Genetic Tests for Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid...

Anatomical Context for Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid...

MalaCards organs/tissues related to Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency:

41
Testis, Ovary, Bone, Adrenal Gland, Pituitary

Publications for Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid...

Articles related to Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency:

(show all 36)
# Title Authors PMID Year
1
Carboxyl-terminal mutations in 3beta-hydroxysteroid dehydrogenase type II cause severe salt-wasting congenital adrenal hyperplasia. 8 71
18252794 2008
2
Congenital adrenal hyperplasia due to point mutations in the type II 3 beta-hydroxysteroid dehydrogenase gene. 8 71
1363812 1992
3
3 beta-hydroxysteroid dehydrogenase deficiency. Follow-up study in a girl with pubertal bone age. 8 71
295036 1979
4
The hormonal phenotype of Nonclassic 3 beta-hydroxysteroid dehydrogenase (HSD3B) deficiency in hyperandrogenic females is associated with insulin-resistant polycystic ovary syndrome and is not a variant of inherited HSD3B2 deficiency. 8
14764797 2004
5
Newly proposed hormonal criteria via genotypic proof for type II 3beta-hydroxysteroid dehydrogenase deficiency. 8
12050224 2002
6
A novel nonstop mutation in the stop codon and a novel missense mutation in the type II 3beta-hydroxysteroid dehydrogenase (3beta-HSD) gene causing, respectively, nonclassic and classic 3beta-HSD deficiency congenital adrenal hyperplasia. 71
12050213 2002
7
A novel A10E homozygous mutation in the HSD3B2 gene causing severe salt-wasting 3beta-hydroxysteroid dehydrogenase deficiency in 46,XX and 46,XY French-Canadians: evaluation of gonadal function after puberty. 71
10843183 2000
8
Characterization of two novel homozygous missense mutations involving codon 6 and 259 of type II 3beta-hydroxysteroid dehydrogenase (3betaHSD) gene causing, respectively, nonsalt-wasting and salt-wasting 3betaHSD deficiency disorder. 71
10770215 2000
9
New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: identification of eight mutations in the HSD3B2 gene eleven patients from seven new families and comparison of the functional properties of twenty-five mutant enzymes. 71
10599696 1999
10
Mutations in the type II 3 beta-hydroxysteroid dehydrogenase gene in a patient with classic salt-wasting 3 beta-hydroxysteroid dehydrogenase deficiency congenital adrenal hyperplasia. 71
8284113 1993
11
The genes encoding gonadal and nongonadal forms of 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase are closely linked on mouse chromosome 3. 8
8486361 1993
12
Mild adrenal 3 beta-hydroxysteroid dehydrogenase deficiency in children with accelerated growth, premature pubarche and/or hirsutism. 8
1309452 1992
13
Regional chromosomal assignment of human 3-beta-hydroxy-5-ene steroid dehydrogenase to 1p13.1 by non-isotopic in situ hybridisation. 8
2066113 1991
14
Assignment of the human 3 beta-hydroxysteroid dehydrogenase gene (HSDB3) to the p13 band of chromosome 1. 8
2630193 1989
15
Male pseudohermaphroditism due to nonsalt-losing 3 beta-hydroxysteroid dehydrogenase deficiency: gender role change and absence of gynecomastia at puberty. 8
2826919 1987
16
A new inherited variant of the 3 beta-hydroxysteroid dehydrogenase-isomerase deficiency syndrome: evidence for the existence of two isoenzymes. 8
3088022 1986
17
FOUR CLINICAL VARIANTS OF CONGENITAL ADRENAL HYPERPLASIA. 8
14160089 1964
18
The adrenogenital syndrome with deficiency of 3 beta-hydroxysteroid dehydrogenase. 8
13968789 1962
19
Frequency and aetiology of hypercalcaemia. 38
26903499 2016
20
Clinical review of 95 patients with 46,XX disorders of sex development based on the new Chicago classification. 38
25444050 2015
21
Quality of life evaluation in juveniles with disorders of sexual development. 38
23053598 2012
22
Screening for primary aldosteronism. 38
16980200 2006
23
Serum 21-Deoxycortisol, 17-Hydroxyprogesterone, and 11-deoxycortisol in classic congenital adrenal hyperplasia: clinical and hormonal correlations and identification of patients with 11beta-hydroxylase deficiency among a large group with alleged 21-hydroxylase deficiency. 38
16551734 2006
24
Coenzyme Q10 evaluation in pituitary-adrenal axis disease: preliminary data. 38
16873946 2005
25
Newborn screening in the Philippines. 38
15906705 2003
26
[New approach in the surgical treatment of the urogenital sinus]. 38
12602002 2000
27
Bone turnover and bone mineral density in patients with congenital adrenal hyperplasia. 38
8977749 1996
28
[Disorder of gender identity in a child with asymmetric gonadal dysgenesis with complex karyotype abnormality]. 38
7987465 1994
29
Renin gene polymorphism associated with aldosterone responsiveness to the renin-angiotensin system in patients with aldosterone-producing adenomas. 38
7915644 1994
30
Subtotal de-epithelialization and partial concealment of the glans clitoris: a modification to improve the cosmetic results of feminizing genitoplasty. 38
8326615 1993
31
Altering angiotensin levels by administration of captopril or indomethacin, or by angiotensin infusion, contributes to an understanding of atrial natriuretic peptide regulation in man. 38
2978745 1988
32
Congenital adrenal hyperplasia (2). 38
3295546 1987
33
Aldosterone-producing adenomas responsive to angiotensin pose problems in diagnosis. 38
2822305 1987
34
Adrenal scintigraphy in the morphological and functional evaluation of Cushing's syndrome. 38
2996768 1985
35
19-nor-deoxycorticosterone excretion in primary aldosteronism and low renin hypertension. 38
6337172 1983
36
[Mineralocorticoid syndromes and hypertension]. 38
964885 1976

Variations for Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid...

ClinVar genetic disease variations for Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency:

6 (show all 11)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 HSD3B2 NM_001166120.1(HSD3B2): c.29C> A (p.Ala10Glu) single nucleotide variant Pathogenic rs28934880 1:119958071-119958071 1:119415448-119415448
2 HSD3B2 NM_001166120.1(HSD3B2): c.1119A> C (p.Ter373Cys) single nucleotide variant Pathogenic rs80358218 1:119965243-119965243 1:119422620-119422620
3 HSD3B2 NM_001166120.1(HSD3B2): c.424G> A (p.Glu142Lys) single nucleotide variant Pathogenic rs80358219 1:119964548-119964548 1:119421925-119421925
4 HSD3B2 NM_001166120.1(HSD3B2): c.664C> A (p.Pro222Thr) single nucleotide variant Pathogenic rs80358220 1:119964788-119964788 1:119422165-119422165
5 HSD3B2 NM_001166120.1(HSD3B2): c.776C> T (p.Thr259Met) single nucleotide variant Pathogenic rs80358221 1:119964900-119964900 1:119422277-119422277
6 HSD3B2 HSD3B2, 1-BP DEL, 867G deletion Pathogenic
7 HSD3B2 NM_001166120.1(HSD3B2): c.1022C> T (p.Pro341Leu) single nucleotide variant Pathogenic rs121964897 1:119965146-119965146 1:119422523-119422523
8 HSD3B2 NM_001166120.1(HSD3B2): c.742_743delinsAA (p.Val248Asn) indel Pathogenic rs121964896 1:119964866-119964867 1:119422243-119422244
9 HSD3B2 HSD3B2, 1-BP INS insertion Pathogenic
10 HSD3B2 NM_001166120.1(HSD3B2): c.512G> A (p.Trp171Ter) single nucleotide variant Pathogenic rs80358216 1:119964636-119964636 1:119422013-119422013
11 HSD3B2 NM_001166120.1(HSD3B2): c.1064G> A (p.Trp355Ter) single nucleotide variant Likely pathogenic rs767128094 1:119965188-119965188 1:119422565-119422565

UniProtKB/Swiss-Prot genetic disease variations for Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency:

74 (show all 27)
# Symbol AA change Variation ID SNP ID
1 HSD3B2 p.Glu142Lys VAR_000006 rs80358219
2 HSD3B2 p.Leu205Pro VAR_000007
3 HSD3B2 p.Ala245Pro VAR_000008
4 HSD3B2 p.Tyr253Asn VAR_000009 rs139900570
5 HSD3B2 p.Tyr254Asp VAR_000010 rs141102992
6 HSD3B2 p.Thr259Arg VAR_000011
7 HSD3B2 p.Ala10Glu VAR_010517 rs28934880
8 HSD3B2 p.Ala10Val VAR_010518 rs28934880
9 HSD3B2 p.Gly15Asp VAR_010519
10 HSD3B2 p.Ala82Thr VAR_010520 rs757033996
11 HSD3B2 p.Asn100Ser VAR_010521 rs138851794
12 HSD3B2 p.Leu108Trp VAR_010522
13 HSD3B2 p.Gly129Arg VAR_010523 rs587628683
14 HSD3B2 p.Pro155Leu VAR_010524 rs779418168
15 HSD3B2 p.Ala167Val VAR_010525 rs35486059
16 HSD3B2 p.Leu173Arg VAR_010526 rs762479018
17 HSD3B2 p.Pro186Leu VAR_010527
18 HSD3B2 p.Ser213Gly VAR_010528 rs759422374
19 HSD3B2 p.Lys216Glu VAR_010529
20 HSD3B2 p.Pro222His VAR_010530
21 HSD3B2 p.Pro222Gln VAR_010531 rs765547422
22 HSD3B2 p.Leu236Ser VAR_010533 rs35887327
23 HSD3B2 p.Thr259Met VAR_010534 rs80358221
24 HSD3B2 p.Gly294Val VAR_010535
25 HSD3B2 p.Pro222Thr VAR_015411 rs80358220
26 HSD3B2 p.Pro341Leu VAR_065665 rs121964897
27 HSD3B2 p.Ala82Pro VAR_070028

Expression for Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid...

Search GEO for disease gene expression data for Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency.

Pathways for Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid...

GO Terms for Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid...

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