MCID: FRS002
MIFTS: 51

Frasier Syndrome

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

Aliases & Classifications for Frasier Syndrome

MalaCards integrated aliases for Frasier Syndrome:

Name: Frasier Syndrome 53 37 12 72 49 24 55 71 28 13 51 41 14 69
Fs 24 71

Characteristics:

Orphanet epidemiological data:

55
frasier syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

53
Inheritance:
autosomal dominant
somatic mutation

Miscellaneous:
phenotypic overlap with denys-drash syndrome .


HPO:

31
frasier syndrome:
Inheritance somatic mutation autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 136680
Disease Ontology 12 DOID:0050438
MeSH 41 D052159
NCIt 46 C122805
SNOMED-CT 64 445431000
Orphanet 55 ORPHA347
MESH via Orphanet 42 D052159
UMLS via Orphanet 70 C0950122
ICD10 via Orphanet 33 N04.1
MedGen 39 C0950122
UMLS 69 C0950122

Summaries for Frasier Syndrome

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 347Disease definitionFrasier syndrome is characterised by the association of male pseudohermaphrodism and glomerular nephropathy. This syndrome is associated with a high risk of developing gonadoblastoma.EpidemiologyPrevalence of this rare disease is unknown.Clinical descriptionPatients with Frasier syndrome present with normal female external genitalia and streak gonads, and have a 46,XY karyotype. Nephropathy presents during childhood with proteinuria and nephrotic syndrome, and progresses to end-stage renal disease in adolescence or adulthood.EtiologyHeterozygousmutations in the WT1 gene have been found in women affected by Frasier syndrome. The WT1 gene contains 10 exons and codes for a zinc-finger DNA-binding protein. This protein plays an important role in renal and gonadal development. Mutations responsible for Frasier syndrome are located in intron 9, an alternative splicing site, and lead to the loss or haploinsufficiency of the WT1+KTS isoform, a transcription factor.Diagnostic methodsHistologically, glomerular lesions are not specific. They consist of minimal glomerular lesions associated with segmental and focal glomerular hyalinosis. In women, the diagnosis may be made during investigation for primary amenorrhea, or, in some cases, after renal transplant when nephropathy has progressed to renal failure.Visit the Orphanet disease page for more resources. Last updated: 2/14/2007

MalaCards based summary : Frasier Syndrome, also known as fs, is related to denys-drash syndrome and gonadoblastoma, and has symptoms including hypertension, renal insufficiency and proteinuria. An important gene associated with Frasier Syndrome is WT1 (Wilms Tumor 1), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include Kidney, kidney and ovary, and related phenotypes are cardiovascular system and homeostasis/metabolism

OMIM : 53 Frasier syndrome is a rare disorder defined by pseudohermaphroditism and progressive glomerulopathy (Frasier et al., 1964; Haning et al., 1985; Kinberg et al., 1987). Patients present with normal female external genitalia, streak gonads, and XY karyotype, and frequently develop gonadoblastoma (Blanchet et al., 1977). Glomerular symptoms consist of childhood proteinuria and nephrotic syndrome, characterized by nonspecific focal and segmental glomerular sclerosis, progressing to end-stage renal failure in adolescence or early adulthood. Wilms tumor is not a usual feature (Barbaux et al., 1997). (136680)

UniProtKB/Swiss-Prot : 71 Frasier syndrome: Characterized by a slowly progressing nephropathy leading to renal failure in adolescence or early adulthood, male pseudohermaphroditism, and no Wilms tumor. As for histological findings of the kidneys, focal glomerular sclerosis is often observed. There is phenotypic overlap with Denys-Drash syndrome. Inheritance is autosomal dominant.

Genetics Home Reference : 24 Frasier syndrome is a condition that affects the kidneys and genitalia.

Wikipedia : 72 Frasier syndrome is a urogenital anomaly associated with the WT1 (Wilms tumor 1 gene)... more...

Related Diseases for Frasier Syndrome

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

(show all 48)
# Related Disease Score Top Affiliating Genes
1 denys-drash syndrome 30.9 CD2AP NPHS1 NPHS2 NR5A1 PDGFA WT1
2 gonadoblastoma 30.8 SOX9 SRY WT1
3 46 xy gonadal dysgenesis 30.0 NR5A1 SOX9 SRY WT1
4 end stage renal failure 29.9 NPHS1 NPHS2 PLCE1 WT1
5 gonadal dysgenesis 29.7 AMH FGF9 NR5A1 SOX9 SRY WT1
6 focal segmental glomerulosclerosis 1 29.4 ACTN4 CD2AP NPHS1 NPHS2 PLCE1 WT1
7 focal segmental glomerulosclerosis 29.4 ACTN4 CD2AP NPHS1 NPHS2 PLCE1 WT1
8 sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 10.5 CD2AP NPHS2
9 familial idiopathic steroid-resistant nephrotic syndrome with minimal changes 10.5 NPHS1 NPHS2
10 sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis 10.5 PLCE1 WT1
11 hereditary wilms' tumor 10.4
12 atrial septal defect 3 10.4 CD2AP NPHS1 NPHS2
13 46,xx sex reversal 1 10.3 NR5A1 SOX9 SRY
14 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis 10.3 NPHS1 PLCE1 WT1
15 hypoparathyroidism, sensorineural deafness, and renal disease 10.3 ACTN4 NPHS1 NPHS2
16 anorchia 10.3 NR5A1 SRY
17 lipoid nephrosis 10.3 CD2AP NPHS1 NPHS2
18 galloway-mowat syndrome 10.3 ACTN4 NPHS1 NPHS2
19 membranous nephropathy 10.2 CD2AP NPHS1 NPHS2
20 mixed gonadal dysgenesis 10.2 AMH SOX9 SRY
21 46,xy partial gonadal dysgenesis 10.2 NR5A1 SOX9 SRY WT1
22 iga glomerulonephritis 10.2 CD2AP NPHS1 NPHS2
23 gonadal agenesis 10.2 LHX9 NR5A1
24 kidney hypertrophy 10.2 NPHS1 NPHS2
25 freemartinism 10.2 AMH SRY
26 hypospadias 10.2 NR5A1 SOX9 SRY WT1
27 chiasmal syndrome 10.1 CD2AP PAX6
28 wilms tumor 1 10.1 NPHS2 NR5A1 SRY WT1
29 gonadal disease 10.1 AMH NR5A1 SRY
30 reproductive system disease 10.1 AMH NR5A1 SRY
31 nephrotic syndrome, type 1 10.0 ACTN4 CD2AP NPHS1 NPHS2 WT1
32 hermaphroditism 10.0 SOX9 SRY
33 cryptorchidism, unilateral or bilateral 10.0 AMH NR5A1 SRY WT1
34 premature ovarian failure 1 10.0 AMH NR5A1 WT1
35 kidney disease 10.0 ACTN4 CD2AP NPHS1 NPHS2 WT1
36 wilms tumor 5 9.9
37 wilms tumor 6 9.9
38 persistent mullerian duct syndrome 9.9 AMH NR5A1 SOX9 SRY WT1
39 familial nephrotic syndrome 9.8 ACTN4 CD2AP NPHS1 NPHS2 PLCE1 WT1
40 nephrotic syndrome 9.8 ACTN4 CD2AP NPHS1 NPHS2 PLCE1 WT1
41 diffuse mesangial sclerosis 9.8 NPHS1 NPHS2 PDGFA PLCE1 WT1
42 alport syndrome, x-linked 9.8
43 nephronophthisis 9.8
44 amenorrhea 9.8
45 astrocytoma 9.8
46 sertoli cell tumor 9.8
47 seminoma 9.8
48 pilocytic astrocytoma 9.8

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



Diseases related to Frasier Syndrome

Symptoms & Phenotypes for Frasier Syndrome

Symptoms via clinical synopsis from OMIM:

53
Endocrine Features:
primary amenorrhea

Genitourinary Internal Genitalia Female:
gonadoblastoma
pure gonadal dysgenesis

Genitourinary Kidneys:
nephrotic syndrome
chronic renal failure
focal and segmental glomerular sclerosis

Genitourinary Internal Genitalia Male:
gonadoblastoma
pure gonadal dysgenesis

Neoplasia:
gonadoblastoma

Genitourinary External Genitalia Male:
male pseudohermaphroditism


Clinical features from OMIM:

136680

Human phenotypes related to Frasier Syndrome:

55 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 55 31 frequent (33%) Frequent (79-30%) HP:0000822
2 renal insufficiency 55 31 frequent (33%) Frequent (79-30%) HP:0000083
3 proteinuria 55 31 hallmark (90%) Very frequent (99-80%) HP:0000093
4 increased circulating gonadotropin level 55 31 hallmark (90%) Very frequent (99-80%) HP:0000837
5 primary amenorrhea 55 31 hallmark (90%) Very frequent (99-80%) HP:0000786
6 gonadoblastoma 55 31 frequent (33%) Frequent (79-30%) HP:0000150
7 nephrotic syndrome 55 31 frequent (33%) Frequent (79-30%) HP:0000100
8 glomerulopathy 55 31 obligate (100%) Obligate (100%) HP:0100820
9 hypergonadotropic hypogonadism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000815
10 male pseudohermaphroditism 55 31 obligate (100%) Obligate (100%) HP:0000037
11 nephroblastoma 55 31 very rare (1%) Very rare (<4-1%) HP:0002667
12 ambiguous genitalia, male 55 31 obligate (100%) Obligate (100%) HP:0000033
13 decreased serum estradiol 55 31 hallmark (90%) Very frequent (99-80%) HP:0008214
14 gonadal dysgenesis with female appearance, male 55 31 hallmark (90%) Very frequent (99-80%) HP:0008723
15 streak ovary 55 31 frequent (33%) Frequent (79-30%) HP:0010464
16 focal segmental glomerulosclerosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000097
17 gonadal dysgenesis 31 HP:0000133
18 stage 5 chronic kidney disease 31 HP:0003774
19 ovarian gonadoblastoma 31 HP:0000149

MGI Mouse Phenotypes related to Frasier Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.22 ACTN4 CD2AP CMIP FGF9 NPHS2 NR5A1
2 homeostasis/metabolism MP:0005376 10.18 WT1 ACTN4 AMH CD2AP FGF9 LHX9
3 growth/size/body region MP:0005378 10.14 NR5A1 PAX6 PDGFA SOX9 TIA1 WT1
4 endocrine/exocrine gland MP:0005379 10.13 AMH CD2AP CMIP FGF9 LHX9 NR5A1
5 mortality/aging MP:0010768 10.1 ACTN4 CD2AP CMIP FGF9 NPHS1 NPHS2
6 embryo MP:0005380 10.06 ACTN4 CMIP FGF9 NR5A1 PAX6 PDGFA
7 muscle MP:0005369 9.8 ACTN4 FGF9 PAX6 PDGFA PLCE1 SOX9
8 neoplasm MP:0002006 9.63 ACTN4 AMH CMIP PAX6 PLCE1 WT1
9 renal/urinary system MP:0005367 9.56 ACTN4 CD2AP NPHS1 NPHS2 PAX6 PDGFA
10 reproductive system MP:0005389 9.23 AMH FGF9 LHX9 NR5A1 PAX6 PDGFA

Drugs & Therapeutics for Frasier Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Registry for Patients With Wilms' Tumor Suppressor Gene 1 (WT1) Mutation Associated Diseases Completed NCT01252901
2 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Frasier Syndrome

Cochrane evidence based reviews: frasier syndrome

Genetic Tests for Frasier Syndrome

Genetic tests related to Frasier Syndrome:

# Genetic test Affiliating Genes
1 Frasier Syndrome 28 WT1

Anatomical Context for Frasier Syndrome

MalaCards organs/tissues related to Frasier Syndrome:

38
Kidney, Ovary
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Frasier Syndrome:
# Tissue Anatomical CompartmentCell Relevance
1 Kidney Metanephric Mesenchyme Metanephric Mesenchyme Cells Affected by disease

Publications for Frasier Syndrome

Articles related to Frasier Syndrome:

(show all 46)
# Title Authors Year
1
Laparoscopically Removed Streak Gonad Revealed Gonadoblastoma in Frasier Syndrome. ( 28668903 )
2017
2
Total Laparoscopic Colocolpopoiesis in a Kidney transplant Recipient With Frasier Syndrome. ( 26516816 )
2015
3
Gonadal Tumor in Frasier Syndrome: A Review and Classification. ( 25623218 )
2015
4
Proteinuria in Frasier syndrome. ( 24364235 )
2013
5
Sertoli cell tumor and gonadoblastoma in an untreated 29-year-old 46,XY phenotypic male with Frasier syndrome carrying a WT1 IVS9+4C>T mutation. ( 22908070 )
2012
6
Frasier syndrome: four new cases with unusual presentations. ( 23295293 )
2012
7
Recurrence of a dysgerminoma in Frasier syndrome. ( 20408995 )
2011
8
Frasier syndrome in 17-year-old girl--case report. ( 21853939 )
2011
9
Frasier syndrome: early gonadoblastoma and cyclosporine responsiveness. ( 20419325 )
2010
10
A female infant with Frasier syndrome showing splice site mutation in Wilms' tumor gene (WT1) intron 9. ( 20497763 )
2010
11
Frasier syndrome, a potential cause of end-stage renal failure in childhood. ( 19921279 )
2010
12
Bilateral gonadoblastoma with dysgerminoma and pilocytic astrocytoma with WT1 GT-IVS9 mutation: A 46 XY phenotypic female with Frasier syndrome. ( 19653292 )
2009
13
[WT1 mutation as a cause of progressive nephropathy in Frasier syndrome--case report]. ( 19711733 )
2009
14
Characteristics of testicular dysgenesis syndrome and decreased expression of SRY and SOX9 in Frasier syndrome. ( 18271004 )
2008
15
Expanding the clinical spectrum of Frasier syndrome. ( 17378674 )
2008
16
WT1 mutation and podocyte molecular expression in a Chinese Frasier syndrome patient. ( 17694336 )
2007
17
[Frasier syndrome: a rare syndrome with WT1 gene mutation in pediatric urology]. ( 16440249 )
2006
18
Prophylactic bilateral salpingo-oopherectomy in a 17-year-old with Frasier syndrome reveals gonadoblastoma and seminoma: a case report. ( 17101338 )
2006
19
Frasier syndrome in a pre-menarchal girl: laparoscopic resection of gonadoblastoma. ( 16915373 )
2006
20
Frasier syndrome: a rare cause of delayed puberty. ( 16760553 )
2006
21
Lack of puberty despite elevated estradiol in a 46,XY phenotypic female with Frasier syndrome. ( 16717397 )
2006
22
Frasier syndrome comes full circle: genetic studies performed in an original patient. ( 15973330 )
2005
23
Twenty-eight-year-old female with primary amenorrhea and chronic renal failure: a case of Frasier syndrome? ( 14977287 )
2004
24
46, XY gonadal dysgenesis and chronic renal failure: first reported case with Frasier syndrome from Turkey. ( 15658629 )
2004
25
WT1 gene mutation responsible for male sex reversal and renal failure: the Frasier syndrome. ( 12932885 )
2003
26
Alport syndrome-like basement membrane changes in Frasier syndrome: an electron microscopy study. ( 12722046 )
2003
27
Gonad development in Drash and Frasier syndromes depends on WT1 mutations. ( 15357247 )
2003
28
A girl with bilateral ovarian tumours: Frasier syndrome. ( 11954756 )
2002
29
Gonadoblastoma and dysgerminoma associated with XY gonadal dysgenesis in an adolescent with chronic renal failure: a case of Frasier syndrome. ( 12106750 )
2002
30
An unusual phenotype of Frasier syndrome due to IVS9 +4C>T mutation in the WT1 gene: predominantly male ambiguous genitalia and absence of gonadal dysgenesis. ( 12050205 )
2002
31
Gonadal mosaicism of Frasier syndrome in 3 Chinese siblings with donor splice site mutation of Wilms' tumour gene. ( 12119492 )
2002
32
Molecular analysis of Frasier syndrome: mutation in the WT1 gene in a girl with gonadal dysgenesis and nephronophthisis. ( 12199335 )
2002
33
Clinical spectrum of Denys-Drash and Frasier syndrome. ( 11354777 )
2001
34
Frasier syndrome with childhood-onset renal failure. ( 11509863 )
2001
35
Frasier syndrome, part of the Denys Drash continuum or simply a WT1 gene associated disorder of intersex and nephropathy? ( 10762296 )
2000
36
Absent pubertal development in a child with chronic renal failure: the case of Frasier syndrome. ( 11007843 )
2000
37
Frasier syndrome: a cause of focal segmental glomerulosclerosis in a 46,XX female. ( 10505699 )
1999
38
A Japanese case with Frasier syndrome caused by the splice junction mutation of WT1 gene. ( 10670748 )
1999
39
The same mutation affecting the splicing of WT1 gene is present on Frasier syndrome patients with or without Wilms' tumor. ( 10094551 )
1999
40
Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome. ( 10571943 )
1999
41
Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms. ( 9499425 )
1998
42
Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome? ( 9475094 )
1998
43
Donor splice-site mutations in WT1 are responsible for Frasier syndrome. ( 9398852 )
1997
44
Frasier syndrome. ( 15251548 )
1996
45
Distinct molecular origins for Denys-Drash and Frasier syndromes. ( 8386697 )
1993
46
Molecular analysis of the sex-determining region from the Y chromosome in two patients with Frasier syndrome. ( 1478624 )
1992

Variations for Frasier Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Frasier Syndrome:

71
# Symbol AA change Variation ID SNP ID
1 WT1 p.Phe392Leu VAR_015060

ClinVar genetic disease variations for Frasier Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 WT1 NM_001198551.1(WT1): c.787+15T> A single nucleotide variant Pathogenic rs587776575 GRCh38 Chromosome 11, 32391966: 32391966
2 WT1 NM_024426.4(WT1): c.1384C> T (p.Arg462Trp) single nucleotide variant Pathogenic rs121907900 GRCh37 Chromosome 11, 32413566: 32413566
3 WT1 NM_024426.4(WT1): c.1432+5G> A single nucleotide variant Pathogenic rs587776576 GRCh38 Chromosome 11, 32391967: 32391967
4 WT1 NM_024426.4(WT1): c.1372C> T (p.Arg458Ter) single nucleotide variant Pathogenic rs121907909 GRCh37 Chromosome 11, 32413578: 32413578
5 WT1 NM_024426.4(WT1): c.1432+4C> T single nucleotide variant Pathogenic rs587776577 GRCh38 Chromosome 11, 32391968: 32391968
6 WT1 NM_024426.4(WT1): c.1378T> C (p.Phe460Leu) single nucleotide variant Pathogenic rs28941779 GRCh37 Chromosome 11, 32413572: 32413572
7 WT1 NM_001198551.1(WT1): c.161delC (p.Pro54Argfs) deletion Pathogenic rs1060501253 GRCh38 Chromosome 11, 32428031: 32428031
8 WT1 NC_000011.10: g.(?_32396251)_(32417660_?)del deletion Pathogenic GRCh38 Chromosome 11, 32396251: 32417660
9 WT1 NM_024426.4(WT1): c.319delG (p.Asp107Thrfs) deletion Pathogenic GRCh38 Chromosome 11, 32435027: 32435027
10 WT1 NM_024426.4(WT1): c.667dup (p.Asp223Glyfs) duplication Pathogenic GRCh37 Chromosome 11, 32450145: 32450145

Copy number variations for Frasier Syndrome from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 53589 11 31000000 36400000 Copy number WT1 Frasier syndrome

Expression for Frasier Syndrome

Search GEO for disease gene expression data for Frasier Syndrome.

Pathways for Frasier Syndrome

GO Terms for Frasier Syndrome

Cellular components related to Frasier Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 slit diaphragm GO:0036057 8.62 NPHS1 NPHS2

Biological processes related to Frasier Syndrome according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.96 NR5A1 PAX6 SOX9 SRY WT1
2 regulation of transcription by RNA polymerase II GO:0006357 9.95 NR5A1 PAX6 SOX9 SRY WT1
3 cell differentiation GO:0030154 9.95 AMH FGF9 NR5A1 PAX6 SOX9 SRY
4 positive regulation of gene expression GO:0010628 9.88 AMH FGF9 NR5A1 PAX6 SOX9
5 cell-cell signaling GO:0007267 9.87 AMH FGF9 NR5A1 PDGFA
6 sex differentiation GO:0007548 9.59 AMH SRY
7 adrenal gland development GO:0030325 9.58 NR5A1 WT1
8 tissue development GO:0009888 9.58 NR5A1 WT1
9 gonad development GO:0008406 9.54 AMH WT1
10 glomerulus development GO:0032835 9.52 PLCE1 WT1
11 glomerular basement membrane development GO:0032836 9.51 NPHS1 WT1
12 positive regulation of mesenchymal cell proliferation GO:0002053 9.5 FGF9 PDGFA SOX9
13 lacrimal gland development GO:0032808 9.49 PAX6 SOX9
14 regulation of timing of cell differentiation GO:0048505 9.46 FGF9 PAX6
15 positive regulation of epithelial cell differentiation GO:0030858 9.43 PAX6 SOX9
16 male sex determination GO:0030238 9.43 FGF9 SOX9 SRY
17 negative regulation of female gonad development GO:2000195 9.37 NR5A1 WT1
18 male gonad development GO:0008584 9.35 FGF9 LHX9 NR5A1 SOX9 WT1
19 sex determination GO:0007530 9.33 AMH NR5A1 WT1
20 positive regulation of male gonad development GO:2000020 8.92 NR5A1 SOX9 SRY WT1

Molecular functions related to Frasier Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding transcription factor activity GO:0003700 9.73 NR5A1 PAX6 SOX9 SRY WT1 ZNF274
2 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.13 NR5A1 SOX9 SRY
3 sequence-specific DNA binding GO:0043565 9.1 LHX9 NR5A1 PAX6 SOX9 WT1 ZNF274
4 protein binding GO:0005515 10.06 ACTN4 CD2AP CMIP LHX9 NPHS1 NPHS2

Sources for Frasier Syndrome

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