WOSAS
MCID: WDH003
MIFTS: 52

Woodhouse-Sakati Syndrome (WOSAS)

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Woodhouse-Sakati Syndrome

MalaCards integrated aliases for Woodhouse-Sakati Syndrome:

Name: Woodhouse-Sakati Syndrome 57 76 24 53 25 75 37 13
Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation and Electrocardiographic Abnormalities 25 29 6
Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, Deafness, and Extrapyramidal Syndrome 57 25
Extrapyramidal Disorder, Progressive, with Primary Hypogonadism, Mental Retardation, and Alopecia 57 25
Diabetes-Hypogonadism-Deafness-Intellectual Disability Syndrome 53 25
Woodhouse Sakati Syndrome 53 73
Wss 25 75
Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation, and Electrocardiographic Abnormalities 53
Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome 25
Intellectual Disability,extrapyramidal Syndrome 24
Syndrome, Woodhouse-Sakati 40
Woodhousesakati Syndrome 76
Diabetes Mellitus 24
Hypogonadism 24
Alopecia 24
Wosas 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
onset of mental impairment in early childhood
onset of other symptoms in adolescence or early adulthood
patients do not have clinical hypothyroidism


HPO:

32
woodhouse-sakati syndrome:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Woodhouse-Sakati Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3464Disease definitionWoodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.EpidemiologyApproximately 30 patients from consanguineous Middle Eastern families, together with one Caucasian woman and three sibs from an Indian family, have been reported so far.Clinical descriptionThe onset is usually in adolescence. Additional manifestations may include sensorineural deafness, flattened T waves on ECG, seizures, sensory polyneuropathy, dysarthria, various craniofacial abnormalities (high forehead, flat occiput, triangular face, prominent nasal root, hypertelorism, and down-slanting palpebral fissures), scoliosis, hyperreflexia, and camptodactyly.EtiologyWoodhouse-Sakati syndrome is associated with mutations in the DCAF17 gene (2q31.1), encoding a nucleolar protein of unknown function.Genetic counselingThe disease is transmitted in an autosomal recessive manner.Visit the Orphanet disease page for more resources.

MalaCards based summary : Woodhouse-Sakati Syndrome, also known as hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities, is related to diabetes mellitus, noninsulin-dependent and diabetes mellitus, insulin-dependent, and has symptoms including abnormality of extrapyramidal motor function An important gene associated with Woodhouse-Sakati Syndrome is DCAF17 (DDB1 And CUL4 Associated Factor 17). Affiliated tissues include endothelial, heart and kidney, and related phenotypes are diabetes mellitus and hypothyroidism

Genetics Home Reference : 25 Woodhouse-Sakati syndrome is a disorder that primarily affects the body's network of hormone-producing glands (the endocrine system) and the nervous system. The signs and symptoms of this condition, which gradually get worse, vary widely among affected individuals, even within the same family.

UniProtKB/Swiss-Prot : 75 Woodhouse-Sakati syndrome: Rare autosomal recessive disorder characterized by hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.

Wikipedia : 76 Woodhouse�??Sakati syndrome, also called hypogonadism, alopecia, diabetes mellitus, intellectual... more...

Description from OMIM: 241080
GeneReviews: NBK378974

Related Diseases for Woodhouse-Sakati Syndrome

Diseases related to Woodhouse-Sakati Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1882)
# Related Disease Score Top Affiliating Genes
1 diabetes mellitus, noninsulin-dependent 13.0
2 diabetes mellitus, insulin-dependent 13.0
3 diabetes mellitus, permanent neonatal 12.9
4 diabetes mellitus, transient neonatal, 1 12.8
5 neonatal diabetes mellitus 12.7
6 alopecia areata 12.7
7 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 12.7
8 alopecia universalis congenita 12.6
9 diabetes mellitus, insulin-dependent, 20 12.6
10 diabetes mellitus, insulin-dependent, 22 12.6
11 type 1 diabetes mellitus 10 12.6
12 type 1 diabetes mellitus 12 12.6
13 type 1 diabetes mellitus 15 12.6
14 type 1 diabetes mellitus 18 12.6
15 diabetes mellitus, insulin-dependent, 10 12.6
16 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 12.6
17 diabetes mellitus, noninsulin-dependent, 1 12.6
18 diabetes mellitus, insulin-dependent, 19 12.6
19 diabetes mellitus, 6q24-related transient neonatal 12.6
20 diabetes mellitus, insulin-dependent, 21 12.6
21 diabetes mellitus, insulin-dependent, 23 12.6
22 diabetes mellitus, insulin-dependent, 24 12.6
23 hypogonadotropic hypogonadism 7 with or without anosmia 12.5
24 diabetes mellitus, neonatal, with congenital hypothyroidism 12.5
25 diabetes mellitus, insulin-resistant, with acanthosis nigricans 12.5
26 alopecia, androgenetic, 1 12.5
27 insulinomatosis and diabetes mellitus 12.5
28 type 1 diabetes mellitus 2 12.5
29 type 1 diabetes mellitus 3 12.5
30 type 1 diabetes mellitus 4 12.5
31 type 1 diabetes mellitus 5 12.5
32 type 1 diabetes mellitus 6 12.5
33 type 1 diabetes mellitus 7 12.5
34 type 1 diabetes mellitus 11 12.5
35 type 1 diabetes mellitus 17 12.5
36 diabetes mellitus, transient neonatal, 3 12.5
37 diabetes mellitus, insulin-dependent, 5 12.5
38 diabetes mellitus, transient neonatal, 2 12.5
39 diabetes mellitus, insulin-dependent, 2 12.5
40 t-cell immunodeficiency, congenital alopecia, and nail dystrophy 12.5
41 diabetes mellitus, insulin-dependent, 12 12.5
42 alopecia totalis 12.4
43 diabetes mellitus, noninsulin-dependent, 5 12.4
44 frontal fibrosing alopecia 12.4
45 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 12.4
46 mandibulofacial dysostosis with alopecia 12.4
47 alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus 12.4
48 ataxia - hypogonadism - choroidal dystrophy 12.4
49 hypogonadotropic hypogonadism 1 with or without anosmia 12.4
50 renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial dna 12.4

Graphical network of the top 20 diseases related to Woodhouse-Sakati Syndrome:



Diseases related to Woodhouse-Sakati Syndrome

Symptoms & Phenotypes for Woodhouse-Sakati Syndrome

Symptoms via clinical synopsis from OMIM:

57
Endocrine Features:
diabetes mellitus
hypergonadotropic hypogonadism
hypogonadotropic hypergonadism
failure of secondary sexual development

Genitourinary:
hypogonadism

Genitourinary Internal Genitalia Female:
primary ovarian failure
hypoplastic uterus
rudimentary fallopian tubes
streak ovaries

Genitourinary Internal Genitalia Male:
small testes
testicular biopsy shows hypospermatogenesis
atrophic seminiferous tubules

Head And Neck Face:
triangular facies (in some patients)

Head And Neck Teeth:
anodontia (in some patients)

Skin Nails Hair Hair:
alopecia, partial, primarily involving scalp and eyebrows
short, sparse, fine hair
loss of eyebrow hair

Neurologic Central Nervous System:
dysarthria
dystonia
choreoathetosis
mental retardation
psychosis (rare)
more
Laboratory Abnormalities:
hyperlipidemia
decreased testosterone
decreased estradiol
decreased serum insulin-like growth factor 1 (igf1)
increased thyroid-stimulating hormone (tsh)
more
Genitourinary External Genitalia Male:
small penis

Head And Neck Ears:
deafness, sensorineural
prominent ears (in some patients)

Head And Neck Nose:
prominent nasal root (in some patients)

Cardiovascular Heart:
ecg shows flattened t waves


Clinical features from OMIM:

241080

Human phenotypes related to Woodhouse-Sakati Syndrome:

32 (show all 37)
# Description HPO Frequency HPO Source Accession
1 diabetes mellitus 32 HP:0000819
2 hypothyroidism 32 hallmark (90%) HP:0000821
3 intellectual disability 32 hallmark (90%) HP:0001249
4 dysarthria 32 hallmark (90%) HP:0001260
5 hallucinations 32 occasional (7.5%) HP:0000738
6 sensorineural hearing impairment 32 HP:0000407
7 premature ovarian insufficiency 32 hallmark (90%) HP:0008209
8 alopecia 32 hallmark (90%) HP:0001596
9 dystonia 32 hallmark (90%) HP:0001332
10 hypogonadotrophic hypogonadism 32 HP:0000044
11 protruding ear 32 occasional (7.5%) HP:0000411
12 prominent nasal bridge 32 occasional (7.5%) HP:0000426
13 psychosis 32 occasional (7.5%) HP:0000709
14 hypergonadotropic hypogonadism 32 hallmark (90%) HP:0000815
15 decreased testicular size 32 hallmark (90%) HP:0008734
16 decreased serum testosterone level 32 hallmark (90%) HP:0040171
17 hyperlipidemia 32 hallmark (90%) HP:0003077
18 fine hair 32 HP:0002213
19 abnormality of extrapyramidal motor function 32 HP:0002071
20 mental deterioration 32 hallmark (90%) HP:0001268
21 choreoathetosis 32 hallmark (90%) HP:0001266
22 aplasia/hypoplasia of the eyebrow 32 hallmark (90%) HP:0100840
23 triangular face 32 occasional (7.5%) HP:0000325
24 sparse hair 32 HP:0008070
25 abnormal spermatogenesis 32 hallmark (90%) HP:0008669
26 micropenis 32 hallmark (90%) HP:0000054
27 prominent nose 32 occasional (7.5%) HP:0000448
28 hypoplasia of the uterus 32 hallmark (90%) HP:0000013
29 decreased serum estradiol 32 hallmark (90%) HP:0008214
30 streak ovary 32 hallmark (90%) HP:0010464
31 insulin-resistant diabetes mellitus 32 hallmark (90%) HP:0000831
32 decreased serum insulin-like growth factor 1 32 HP:0030353
33 bilateral sensorineural hearing impairment 32 hallmark (90%) HP:0008619
34 anodontia 32 occasional (7.5%) HP:0000674
35 abnormal t-wave 32 hallmark (90%) HP:0005135
36 increased thyroid-stimulating hormone level 32 HP:0002925
37 hypoplasia of the fallopian tube 32 hallmark (90%) HP:0008697

UMLS symptoms related to Woodhouse-Sakati Syndrome:


abnormality of extrapyramidal motor function

Drugs & Therapeutics for Woodhouse-Sakati Syndrome

Search Clinical Trials , NIH Clinical Center for Woodhouse-Sakati Syndrome

Genetic Tests for Woodhouse-Sakati Syndrome

Genetic tests related to Woodhouse-Sakati Syndrome:

# Genetic test Affiliating Genes
1 Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation and Electrocardiographic Abnormalities 29 DCAF17

Anatomical Context for Woodhouse-Sakati Syndrome

MalaCards organs/tissues related to Woodhouse-Sakati Syndrome:

41
Endothelial, Heart, Kidney, Testes, Liver, Bone, Pancreas

Publications for Woodhouse-Sakati Syndrome

Articles related to Woodhouse-Sakati Syndrome:

(show all 18)
# Title Authors Year
1
Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome. ( 29574468 )
2018
2
Brain MR Imaging Findings in Woodhouse-Sakati Syndrome. ( 30409855 )
2018
3
Woodhouse-Sakati Syndrome: Report of the First Tunisian Family with the C2orf37 Gene Mutation. ( 27240811 )
2016
4
Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome (WSS). ( 26612766 )
2015
5
The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome. ( 26664771 )
2015
6
Novel compound heterozygous frameshift mutations of C2orf37 in a familial Indian case of Woodhouse-Sakati syndrome. ( 26440089 )
2015
7
Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature. ( 24464444 )
2014
8
Alopecia and Hypotrichosis as Characteristic Findings in Woodhouse-Sakati Syndrome: Report of a Family with Mutation in the C2orf37 Gene. ( 24015686 )
2013
9
Woodhouse-Sakati syndrome in an Israeli-Arab family presenting with youth-onset diabetes mellitus and delayed puberty. ( 21304230 )
2011
10
Phenotypic heterogeneity in Woodhouse-Sakati syndrome: two new families with a mutation in the C2orf37 gene. ( 21964978 )
2011
11
A novel splice site mutation in gene C2orf37 underlying Woodhouse-Sakati syndrome (WSS) in a consanguineous family of Pakistani origin. ( 21963443 )
2011
12
C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients. ( 20507343 )
2010
13
A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome. ( 21044051 )
2010
14
Three siblings with Woodhouse-Sakati syndrome in an Indian family. ( 18049083 )
2008
15
Dystonia in the Woodhouse Sakati syndrome: A new family and literature review. ( 18175354 )
2008
16
Woodhouse-Sakati syndrome: case report and symptoms review. ( 17710875 )
2007
17
Woodhouse Sakati syndrome associated with bilateral keratoconus. ( 16361682 )
2006
18
Woodhouse-Sakati Syndrome ( 27489925 )
1993

Variations for Woodhouse-Sakati Syndrome

ClinVar genetic disease variations for Woodhouse-Sakati Syndrome:

6 (show top 50) (show all 166)
# Gene Variation Type Significance SNP ID Assembly Location
1 DCAF17 NM_025000.3: c.50delC deletion Pathogenic
2 DCAF17 NM_025000.3(DCAF17): c.1422+5G> T single nucleotide variant Pathogenic GRCh38 Chromosome 2, 171480198: 171480198
3 DCAF17 NM_025000.3(DCAF17): c.1422+5G> T single nucleotide variant Pathogenic GRCh37 Chromosome 2, 172336708: 172336708
4 DCAF17 NM_025000.3(DCAF17): c.1091+6T> G single nucleotide variant Pathogenic GRCh38 Chromosome 2, 171473981: 171473981
5 DCAF17 NM_025000.3(DCAF17): c.1091+6T> G single nucleotide variant Pathogenic GRCh37 Chromosome 2, 172330491: 172330491
6 DCAF17 NM_025000.3(DCAF17): c.387G> A (p.Trp129Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 172305256: 172305256
7 DCAF17 NM_025000.3(DCAF17): c.387G> A (p.Trp129Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 171448746: 171448746
8 DCAF17 NM_025000.3(DCAF17): c.906G> A (p.Trp302Ter) single nucleotide variant Pathogenic rs761229686 GRCh38 Chromosome 2, 171468955: 171468955
9 DCAF17 NM_025000.3(DCAF17): c.906G> A (p.Trp302Ter) single nucleotide variant Pathogenic rs761229686 GRCh37 Chromosome 2, 172325465: 172325465
10 DCAF17 NM_025000.3(DCAF17): c.341C> A (p.Ser114Ter) single nucleotide variant Pathogenic rs760978794 GRCh38 Chromosome 2, 171448700: 171448700
11 DCAF17 NM_025000.3(DCAF17): c.341C> A (p.Ser114Ter) single nucleotide variant Pathogenic rs760978794 GRCh37 Chromosome 2, 172305210: 172305210
12 DCAF17 DCAF17, 3-BP DEL/2-BP INS, 127TAG/AA indel Pathogenic
13 DCAF17 NM_025000.3(DCAF17): c.1267-7C> T single nucleotide variant Benign rs3731981 GRCh37 Chromosome 2, 172336541: 172336541
14 DCAF17 NM_025000.3(DCAF17): c.1267-7C> T single nucleotide variant Benign rs3731981 GRCh38 Chromosome 2, 171480031: 171480031
15 DCAF17 NM_025000.3(DCAF17): c.1320T> C (p.Ala440=) single nucleotide variant Benign/Likely benign rs3731980 GRCh37 Chromosome 2, 172336601: 172336601
16 DCAF17 NM_025000.3(DCAF17): c.1320T> C (p.Ala440=) single nucleotide variant Benign/Likely benign rs3731980 GRCh38 Chromosome 2, 171480091: 171480091
17 DCAF17 NM_025000.3(DCAF17): c.150C> T (p.Val50=) single nucleotide variant Benign rs6751956 GRCh37 Chromosome 2, 172291616: 172291616
18 DCAF17 NM_025000.3(DCAF17): c.150C> T (p.Val50=) single nucleotide variant Benign rs6751956 GRCh38 Chromosome 2, 171435106: 171435106
19 DCAF17 NM_025000.3(DCAF17): c.555T> A (p.His185Gln) single nucleotide variant Likely benign rs3731984 GRCh37 Chromosome 2, 172309651: 172309651
20 DCAF17 NM_025000.3(DCAF17): c.555T> A (p.His185Gln) single nucleotide variant Likely benign rs3731984 GRCh38 Chromosome 2, 171453141: 171453141
21 DCAF17 NM_025000.3(DCAF17): c.939G> A (p.Gln313=) single nucleotide variant Benign/Likely benign rs61731491 GRCh37 Chromosome 2, 172325498: 172325498
22 DCAF17 NM_025000.3(DCAF17): c.939G> A (p.Gln313=) single nucleotide variant Benign/Likely benign rs61731491 GRCh38 Chromosome 2, 171468988: 171468988
23 DCAF17 NM_025000.3(DCAF17): c.999A> G (p.Gln333=) single nucleotide variant Benign rs3731983 GRCh37 Chromosome 2, 172330393: 172330393
24 DCAF17 NM_025000.3(DCAF17): c.999A> G (p.Gln333=) single nucleotide variant Benign rs3731983 GRCh38 Chromosome 2, 171473883: 171473883
25 DCAF17 NM_025000.3(DCAF17): c.322-14C> T single nucleotide variant Benign rs192861143 GRCh37 Chromosome 2, 172305177: 172305177
26 DCAF17 NM_025000.3(DCAF17): c.322-14C> T single nucleotide variant Benign rs192861143 GRCh38 Chromosome 2, 171448667: 171448667
27 DCAF17 NM_025000.3(DCAF17): c.436delC (p.Ala147Hisfs) deletion Pathogenic rs797045038 GRCh37 Chromosome 2, 172305305: 172305305
28 DCAF17 NM_025000.3(DCAF17): c.436delC (p.Ala147Hisfs) deletion Pathogenic rs797045038 GRCh38 Chromosome 2, 171448795: 171448795
29 DCAF17 NM_025000.3(DCAF17): c.270delA (p.Lys90Asnfs) deletion Pathogenic rs879253799 GRCh37 Chromosome 2, 172300072: 172300072
30 DCAF17 NM_025000.3(DCAF17): c.270delA (p.Lys90Asnfs) deletion Pathogenic rs879253799 GRCh38 Chromosome 2, 171443562: 171443562
31 DCAF17 NM_025000.3(DCAF17): c.289dupA (p.Ile97Asnfs) duplication Pathogenic rs863224865 GRCh37 Chromosome 2, 172300091: 172300091
32 DCAF17 NM_025000.3(DCAF17): c.289dupA (p.Ile97Asnfs) duplication Pathogenic rs863224865 GRCh38 Chromosome 2, 171443581: 171443581
33 DCAF17 NM_025000.3(DCAF17): c.-204C> T single nucleotide variant Uncertain significance rs147113116 GRCh38 Chromosome 2, 171434374: 171434374
34 DCAF17 NM_025000.3(DCAF17): c.-204C> T single nucleotide variant Uncertain significance rs147113116 GRCh37 Chromosome 2, 172290884: 172290884
35 DCAF17 NM_025000.3(DCAF17): c.127-15C> A single nucleotide variant Conflicting interpretations of pathogenicity rs146556466 GRCh38 Chromosome 2, 171435068: 171435068
36 DCAF17 NM_025000.3(DCAF17): c.127-15C> A single nucleotide variant Conflicting interpretations of pathogenicity rs146556466 GRCh37 Chromosome 2, 172291578: 172291578
37 DCAF17 NM_025000.3(DCAF17): c.214C> T (p.Arg72Trp) single nucleotide variant Uncertain significance rs886055106 GRCh38 Chromosome 2, 171435170: 171435170
38 DCAF17 NM_025000.3(DCAF17): c.214C> T (p.Arg72Trp) single nucleotide variant Uncertain significance rs886055106 GRCh37 Chromosome 2, 172291680: 172291680
39 DCAF17 NM_025000.3(DCAF17): c.1030T> C (p.Trp344Arg) single nucleotide variant Uncertain significance rs78488864 GRCh38 Chromosome 2, 171473914: 171473914
40 DCAF17 NM_025000.3(DCAF17): c.1030T> C (p.Trp344Arg) single nucleotide variant Uncertain significance rs78488864 GRCh37 Chromosome 2, 172330424: 172330424
41 DCAF17 NM_025000.3(DCAF17): c.*48A> T single nucleotide variant Uncertain significance rs753380867 GRCh38 Chromosome 2, 171481162: 171481162
42 DCAF17 NM_025000.3(DCAF17): c.*48A> T single nucleotide variant Uncertain significance rs753380867 GRCh37 Chromosome 2, 172337672: 172337672
43 DCAF17 NM_025000.3(DCAF17): c.*188T> A single nucleotide variant Uncertain significance rs142315519 GRCh38 Chromosome 2, 171481302: 171481302
44 DCAF17 NM_025000.3(DCAF17): c.*188T> A single nucleotide variant Uncertain significance rs142315519 GRCh37 Chromosome 2, 172337812: 172337812
45 DCAF17 NM_025000.3(DCAF17): c.*1258dupT duplication Uncertain significance rs886055110 GRCh38 Chromosome 2, 171482372: 171482372
46 DCAF17 NM_025000.3(DCAF17): c.*1258dupT duplication Uncertain significance rs886055110 GRCh37 Chromosome 2, 172338882: 172338882
47 DCAF17 NM_025000.3(DCAF17): c.*1565delT deletion Benign rs886055112 GRCh38 Chromosome 2, 171482679: 171482679
48 DCAF17 NM_025000.3(DCAF17): c.*1565delT deletion Benign rs886055112 GRCh37 Chromosome 2, 172339189: 172339189
49 DCAF17 NM_025000.3(DCAF17): c.*1747C> A single nucleotide variant Uncertain significance rs747014569 GRCh38 Chromosome 2, 171482861: 171482861
50 DCAF17 NM_025000.3(DCAF17): c.*1747C> A single nucleotide variant Uncertain significance rs747014569 GRCh37 Chromosome 2, 172339371: 172339371

Expression for Woodhouse-Sakati Syndrome

Search GEO for disease gene expression data for Woodhouse-Sakati Syndrome.

Pathways for Woodhouse-Sakati Syndrome

GO Terms for Woodhouse-Sakati Syndrome

Sources for Woodhouse-Sakati Syndrome

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