WS2A
MCID: WRD032
MIFTS: 47

Waardenburg Syndrome, Type 2a (WS2A)

Categories: Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Waardenburg Syndrome, Type 2a

MalaCards integrated aliases for Waardenburg Syndrome, Type 2a:

Name: Waardenburg Syndrome, Type 2a 57 13 40
Waardenburg Syndrome Type 2a 12 75 53 29 6 15
Ws2a 57 12 53 74
Waardenburg Syndrome, Type Iia 57 72
Waardenburg Syndrome Without Dystopia Canthorum 57
Waardenburg Syndrome Type Iia 12
Waardenburg Syndrome 2a 74
Ws2 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable expressivity of each feature
genetic heterogeneity of waardenburg syndrome type 2
other variants of waardenburg syndrome include waardenburg syndrome type 1 (), waardenburg syndrome type 3 (), and waardenburg syndrome type 4 ()


HPO:

32
waardenburg syndrome, type 2a:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course variable expressivity


Classifications:



External Ids:

Disease Ontology 12 DOID:0110950
MeSH 44 D014849
MedGen 42 C1860339
UMLS 72 C1860339

Summaries for Waardenburg Syndrome, Type 2a

OMIM : 57 Waardenburg syndrome type 2 is an autosomal dominant auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the ocular inner canthi, which is seen in some other forms of WS (reviews by Read and Newton, 1997 and Pingault et al., 2010). (193510)

MalaCards based summary : Waardenburg Syndrome, Type 2a, also known as waardenburg syndrome type 2a, is related to waardenburg syndrome, type 4c and tietz albinism-deafness syndrome. An important gene associated with Waardenburg Syndrome, Type 2a is MITF (Melanocyte Inducing Transcription Factor), and among its related pathways/superpathways are Kit receptor signaling pathway and Neural Crest Differentiation. Affiliated tissues include skin and eye, and related phenotypes are wide nasal bridge and underdeveloped nasal alae

Disease Ontology : 12 A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has material basis in heterozygous mutation in the MITF gene on chromosome 3p13.

UniProtKB/Swiss-Prot : 74 Waardenburg syndrome 2A: WS2 is a genetically heterogeneous, autosomal dominant disorder characterized by sensorineural deafness, pigmentary disturbances, and absence of dystopia canthorum. The frequency of deafness is higher in WS2 than in WS1.

Wikipedia : 75 Waardenburg syndrome is a rare genetic disorder most often characterized by varying degrees of deafness,... more...

Related Diseases for Waardenburg Syndrome, Type 2a

Diseases in the Waardenburg's Syndrome family:

Waardenburg Syndrome, Type 3 Waardenburg Syndrome, Type 1
Waardenburg Syndrome, Type 2a Waardenburg Syndrome, Type 4a
Waardenburg Syndrome, Type 2b Waardenburg Syndrome, Type 2c
Waardenburg Syndrome, Type 2d Waardenburg Syndrome, Type 2e
Waardenburg Syndrome, Type 4b Waardenburg Syndrome, Type 4c
Waardenburg Syndrome Type 4

Diseases related to Waardenburg Syndrome, Type 2a via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 waardenburg syndrome, type 4c 33.2 SOX10 POLR2F
2 tietz albinism-deafness syndrome 31.9 TYR SOX10 PAX3 MITF
3 waardenburg syndrome, type 4b 31.0 SOX10 SNAI2 PAX3 MITF EDNRB EDN3
4 albinism, ocular, with sensorineural deafness 30.6 TYR MITF
5 megacolon 30.6 SOX10 EDNRB EDN3
6 waardenburg syndrome type 4 30.4 SOX10 MITF EDNRB EDN3
7 waardenburg syndrome, type 2e 30.1 SOX10 SNAI2 POLR2F MITF EDNRB
8 microphthalmia 28.9 TYR TFEB TFE3 PAX3 MITF KIT
9 waardenburg's syndrome 27.4 TYR TFE3 SOX10 SNAI2 POLR2F PAX3
10 waardenburg syndrome, type 2b 11.2
11 waardenburg syndrome, type 2c 11.2
12 waardenburg syndrome, type 2d 11.2
13 abcd syndrome 10.6 EDNRB-AS1 EDNRB
14 hirschsprung disease 2 10.5 EDNRB-AS1 EDNRB
15 clear cell papillary renal cell carcinoma 10.5 TFE3 MITF
16 cutaneous ganglioneuroma 10.4 MITF KIT
17 triiodothyronine receptor auxiliary protein 10.4
18 mutism 10.4 MITF GJB2
19 colonic disease 10.3 SOX10 EDNRB EDN3
20 rapidly involuting congenital hemangioma 10.3
21 renal cell carcinoma, xp11-associated 10.3 TFEB TFE3
22 pigmented basal cell carcinoma 10.3 TYR MITF
23 neurofibroma 10.3 SOX10 MITF KIT
24 hypomelanosis of ito 10.3 TYR MITF
25 branchiootic syndrome 1 10.2
26 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
27 epithelioid cell melanoma 10.2 TYR MITF
28 albinism, ocular, with late-onset sensorineural deafness 10.2 TYR SOX10 MITF
29 vitiligo-associated multiple autoimmune disease susceptibility 6 10.2 TYR MITF
30 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 10.2 MITF GJB2
31 renal cell carcinoma, papillary, 1 10.2 TFE3 MITF KIT
32 muscle cancer 10.2 TFE3 PAX3 KIT
33 waardenburg syndrome, type 3 10.1 SOX10 PAX3 MITF EDN3
34 constipation 10.1 KIT EDNRB EDN3
35 hermansky-pudlak syndrome 1 10.1 TYR SOX10 PAX3
36 albinism, oculocutaneous, type ia 10.1
37 skin/hair/eye pigmentation, variation in, 3 10.1
38 albinism, oculocutaneous, type ib 10.1
39 melanoma, cutaneous malignant 8 10.1
40 ocular albinism 10.1
41 albinism 10.1
42 ocular albinism, x-linked 10.1
43 posttransplant acute limbic encephalitis 10.1
44 fryns microphthalmia syndrome 10.1
45 albinism, oculocutaneous, type iv 10.1 TYR MITF GJB2
46 dowling-degos disease 1 10.0 TYR MITF KIT
47 angiomyolipoma 10.0 TYR MITF KIT
48 sarcomatoid squamous cell skin carcinoma 10.0 TFE3 MITF
49 waardenburg syndrome, type 4a 10.0 SOX10 MITF EDNRB-AS1 EDNRB EDN3
50 amelanotic melanoma 9.9 TYR KIT

Graphical network of the top 20 diseases related to Waardenburg Syndrome, Type 2a:



Diseases related to Waardenburg Syndrome, Type 2a

Symptoms & Phenotypes for Waardenburg Syndrome, Type 2a

Human phenotypes related to Waardenburg Syndrome, Type 2a:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 wide nasal bridge 32 HP:0000431
2 underdeveloped nasal alae 32 HP:0000430
3 heterochromia iridis 32 HP:0001100
4 premature graying of hair 32 HP:0002216
5 white forelock 32 HP:0002211
6 synophrys 32 HP:0000664
7 white eyebrow 32 HP:0002226
8 white eyelashes 32 HP:0002227
9 congenital sensorineural hearing impairment 32 HP:0008527
10 partial albinism 32 HP:0007443
11 hypoplastic iris stroma 32 HP:0007990
12 albinism 32 HP:0001022

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Nose:
wide nasal bridge
hypoplastic alae nasi

Skin Nails Hair Hair:
premature graying of hair
white forelock
white eyelashes and eyebrows

Head And Neck Ears:
deafness, congenital sensorineural

Head And Neck Eyes:
heterochromia iridis
synophrys
hypoplastic iris stoma
dystopia canthorum absent

Skin Nails Hair Skin:
congenital partial albinism (leukoderma) on face, trunk, or limbs

Clinical features from OMIM:

193510

MGI Mouse Phenotypes related to Waardenburg Syndrome, Type 2a:

46 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 10.29 CDK2 EDN3 EDNRB GJB2 KIT MITF
2 integument MP:0010771 10.29 CDK2 EDN3 EDNRB GJB2 KIT MITF
3 growth/size/body region MP:0005378 10.26 CDK2 EDNRB GJB2 KIT MITF PAX3
4 behavior/neurological MP:0005386 10.22 EDN3 EDNRB KIT MITF PAX3 SNAI2
5 mortality/aging MP:0010768 10.21 CDK2 EDN3 EDNRB GJB2 KIT MITF
6 craniofacial MP:0005382 10.16 EDNRB GJB2 KIT MITF PAX3 SNAI2
7 immune system MP:0005387 10.15 CDK2 EDNRB GJB2 KIT MITF PAX3
8 endocrine/exocrine gland MP:0005379 10.14 CDK2 EDNRB KIT MITF PAX3 SNAI2
9 nervous system MP:0003631 10.07 EDN3 EDNRB GJB2 KIT MITF PAX3
10 limbs/digits/tail MP:0005371 10 EDNRB GJB2 KIT MITF PAX3 SOX10
11 hearing/vestibular/ear MP:0005377 9.99 EDNRB GJB2 KIT MITF PAX3 TYR
12 normal MP:0002873 9.91 GJB2 KIT MITF PAX3 SOX10 TFE3
13 pigmentation MP:0001186 9.9 EDN3 EDNRB KIT MITF PAX3 SNAI2
14 neoplasm MP:0002006 9.88 CDK2 EDNRB KIT PAX3 SOX10 TYR
15 no phenotypic analysis MP:0003012 9.8 GJB2 KIT MITF PAX3 SOX10 TYR
16 skeleton MP:0005390 9.65 EDNRB GJB2 KIT MITF PAX3 SNAI2
17 vision/eye MP:0005391 9.4 CDK2 EDNRB GJB2 KIT MITF PAX3

Drugs & Therapeutics for Waardenburg Syndrome, Type 2a

Search Clinical Trials , NIH Clinical Center for Waardenburg Syndrome, Type 2a

Genetic Tests for Waardenburg Syndrome, Type 2a

Genetic tests related to Waardenburg Syndrome, Type 2a:

# Genetic test Affiliating Genes
1 Waardenburg Syndrome Type 2a 29 MITF

Anatomical Context for Waardenburg Syndrome, Type 2a

MalaCards organs/tissues related to Waardenburg Syndrome, Type 2a:

41
Skin, Eye

Publications for Waardenburg Syndrome, Type 2a

Articles related to Waardenburg Syndrome, Type 2a:

(show all 30)
# Title Authors PMID Year
1
Analyses of loss-of-function mutations of the MITF gene suggest that haploinsufficiency is a cause of Waardenburg syndrome type 2A. 38 8 71
8659547 1996
2
Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness. 8 71
27889061 2016
3
Point mutation in the MITF gene causing Waardenburg syndrome type II in a three-generation Indian family. 8 71
9856573 1998
4
Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA). 8 71
9158138 1997
5
The mutational spectrum in Waardenburg syndrome. 8 71
8589691 1995
6
Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. 8 71
7874167 1994
7
Heterogeneity in Waardenburg's syndrome. Report of a family with ocular albinism. 8 71
666627 1978
8
Hearing loss in Waardenburg syndrome: a systematic review. 8
26100139 2016
9
Ser298 of MITF, a mutation site in Waardenburg syndrome type 2, is a phosphorylation site with functional significance. 71
10587587 2000
10
Waardenburg syndrome. 8
9279758 1997
11
Ectopic expression of MITF, a gene for Waardenburg syndrome type 2, converts fibroblasts to cells with melanocyte characteristics. 8
8782819 1996
12
Analysis of variability of clinical manifestations in Waardenburg syndrome. 8
7573125 1995
13
Waardenburg syndrome type II: phenotypic findings and diagnostic criteria. 8
7702105 1995
14
Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes. 8
7942851 1994
15
A gene for Waardenburg syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12-p14.1. 8
7951321 1994
16
Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2. 8
8490648 1993
17
Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium. 8
1349198 1992
18
Mouse and hamster mutants as models for Waardenburg syndromes in humans. 8
2246770 1990
19
Waardenburg syndrome--two distinct types. 8
7187610 1980
20
Heterogeneity in Waardenburg syndrome. 8
331943 1977
21
Bilateral asymmetrical partial heterochromia of iris and fundus in Waardenburg syndrome type 2A with a novel MITF gene mutation. 38
31436206 2019
22
Whole-genome sequencing reveals a large deletion in the MITF gene in horses with white spotted coat colour and increased risk of deafness. 38
30644113 2019
23
Homozygous intronic MITF mutation causes severe Waardenburg syndrome type 2A. 38
30117279 2019
24
Creation of miniature pig model of human Waardenburg syndrome type 2A by ENU mutagenesis. 38
29094203 2017
25
Tietz/Waardenburg type 2A syndrome associated with posterior microphthalmos in two unrelated patients with novel MITF gene mutations. 38
27604145 2016
26
[Hereditary hypomelanocytoses: the role of PAX3, SOX10, MITF, SNAI2, KIT, EDN3 and EDNRB genes]. 38
24379252 2013
27
MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function. 38
23787126 2013
28
Melanocytes and the microphthalmia transcription factor network. 38
15568981 2004
29
Genomic, transcriptional and mutational analysis of the mouse microphthalmia locus. 38
10790403 2000
30
Evidence to suggest that expression of MITF induces melanocyte differentiation and haploinsufficiency of MITF causes Waardenburg syndrome type 2A. 38
9170159 1997

Variations for Waardenburg Syndrome, Type 2a

ClinVar genetic disease variations for Waardenburg Syndrome, Type 2a:

6 (show all 30)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MITF NM_000248.3(MITF): c.618G> C (p.Lys206Asn) single nucleotide variant Pathogenic rs1057519325 3:70001021-70001021 3:69951870-69951870
2 MITF NM_000248.3(MITF): c.649A> G (p.Arg217Gly) single nucleotide variant Pathogenic rs1057519326 3:70005620-70005620 3:69956469-69956469
3 MITF NM_000248.3(MITF): c.635-1G> A single nucleotide variant Pathogenic rs1057519327 3:70005605-70005605 3:69956454-69956454
4 MITF NM_000248.3(MITF): c.676G> T (p.Glu226Ter) single nucleotide variant Pathogenic 3:70005647-70005647 3:69956496-69956496
5 MITF NM_000248.3(MITF): c.33+1G> A single nucleotide variant Pathogenic rs1553701477 3:69985907-69985907 3:69936756-69936756
6 MITF NM_000248.3(MITF): c.442-2A> C single nucleotide variant Pathogenic rs1553703612 3:69998200-69998200 3:69949049-69949049
7 MITF NM_000248.3(MITF): c.748T> C (p.Ser250Pro) single nucleotide variant Pathogenic rs104893744 3:70008461-70008461 3:69959310-69959310
8 MITF NM_000248.3(MITF): c.824del (p.Glu275fs) deletion Pathogenic rs1553705282 3:70008537-70008537 3:69959386-69959386
9 MITF NM_000248.3(MITF): c.640C> T (p.Arg214Ter) single nucleotide variant Pathogenic rs104893746 3:70005611-70005611 3:69956460-69956460
10 MITF NM_000248.3(MITF): c.892T> C (p.Ser298Pro) single nucleotide variant Pathogenic rs104893747 3:70014031-70014031 3:69964880-69964880
11 MITF NM_000248.3(MITF): c.887del (p.Gly296fs) deletion Pathogenic rs878853234 3:70014026-70014026 3:69964875-69964875
12 MITF NM_000248.3(MITF): c.763C> T (p.Arg255Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1057517966 3:70008476-70008476 3:69959325-69959325
13 MITF NM_000248.3(MITF): c.[710+1G> A] single nucleotide variant Pathogenic/Likely pathogenic 3:70005682-70005682 3:69956531-69956531
14 MITF NM_000248.3(MITF): c.328C> T (p.Arg110Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1553702006 3:69988315-69988315 3:69939164-69939164
15 SOX10 NM_006941.3(SOX10): c.1091del (p.Gln364fs) deletion Likely pathogenic rs1555937398 22:38369812-38369812 22:37973805-37973805
16 SOX10 NM_006941.3(SOX10): c.430del (p.Leu144fs) deletion Likely pathogenic rs1555938422 22:38374141-38374141 22:37978134-37978134
17 SOX10 NM_006941.3(SOX10): c.403A> C (p.Ser135Arg) single nucleotide variant Likely pathogenic rs1555939415 22:38379389-38379389 22:37983382-37983382
18 SOX10 NM_006941.3(SOX10): c.44_62del (p.Val15fs) deletion Likely pathogenic rs1555939564 22:38379730-38379748 22:37983723-37983741
19 MITF NM_000248.3(MITF): c.718C> G (p.Arg240Gly) single nucleotide variant Likely pathogenic 3:70008431-70008431 3:69959280-69959280
20 MITF NM_000248.3(MITF): c.604G> A (p.Glu202Lys) single nucleotide variant Likely pathogenic rs1553704086 3:70001007-70001007 3:69951856-69951856
21 MITF NM_000248.3(MITF): c.409_410delinsCC (p.Leu137Pro) indel Likely pathogenic rs1553702406 3:69990450-69990451 3:69941299-69941300
22 MITF NM_000248.3(MITF): c.632T> C (p.Leu211Pro) single nucleotide variant Likely pathogenic rs1553704097 3:70001035-70001035 3:69951884-69951884
23 MITF NM_000248.3(MITF): c.710+4A> C single nucleotide variant Likely pathogenic rs1553704850 3:70005685-70005685 3:69956534-69956534
24 MITF NM_000248.3(MITF): c.952G> A (p.Glu318Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs149617956 3:70014091-70014091 3:69964940-69964940
25 MITF NM_000248.3(MITF): c.666C> A (p.Asp222Glu) single nucleotide variant Uncertain significance 3:70005637-70005637 3:69956486-69956486
26 MITF NM_000248.3(MITF): c.751G> A (p.Val251Met) single nucleotide variant Uncertain significance rs1271000541 3:70008464-70008464 3:69959313-69959313
27 MITF NM_000248.3(MITF): c.668G> A (p.Arg223His) single nucleotide variant Uncertain significance rs763119975 3:70005639-70005639 3:69956488-69956488
28 MITF NM_000248.3(MITF): c.676G> A (p.Glu226Lys) single nucleotide variant Uncertain significance rs147682682 3:70005647-70005647 3:69956496-69956496
29 MITF NM_000248.3(MITF): c.348G> A (p.Met116Ile) single nucleotide variant Likely benign rs1032758072 3:69990389-69990389 3:69941238-69941238
30 EDNRB NM_000115.5(EDNRB): c.914G> A (p.Ser305Asn) single nucleotide variant Benign/Likely benign rs5352 13:78475230-78475230 13:77901095-77901095

UniProtKB/Swiss-Prot genetic disease variations for Waardenburg Syndrome, Type 2a:

74
# Symbol AA change Variation ID SNP ID
1 MITF p.Ser357Pro VAR_010300 rs104893744
2 MITF p.Asn385Asp VAR_010301
3 MITF p.Ser405Pro VAR_010302 rs104893747

Expression for Waardenburg Syndrome, Type 2a

Search GEO for disease gene expression data for Waardenburg Syndrome, Type 2a.

Pathways for Waardenburg Syndrome, Type 2a

Pathways related to Waardenburg Syndrome, Type 2a according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.7 SNAI2 MITF KIT
2 11.27 SOX10 SNAI2 PAX3 MITF
3 11.25 TFEB TFE3 MITF
4 11.08 PAX3 MITF CDK2
5 10.54 SOX10 PAX3 MITF KIT

GO Terms for Waardenburg Syndrome, Type 2a

Cellular components related to Waardenburg Syndrome, Type 2a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.28 TFEC TFEB TFE3 SOX10 SNAI2 POLR2F

Biological processes related to Waardenburg Syndrome, Type 2a according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.97 SNAI2 MITF EDNRB CDKN1C CDK2
2 sensory perception of sound GO:0007605 9.73 SNAI2 PAX3 GJB2
3 negative regulation of apoptotic process GO:0043066 9.73 SOX10 SNAI2 MITF EDNRB
4 positive regulation of transcription, DNA-templated GO:0045893 9.7 TFEB TFE3 SOX10 PAX3 MITF CDKN1C
5 peripheral nervous system development GO:0007422 9.58 SOX10 EDNRB
6 vasoconstriction GO:0042310 9.55 EDNRB EDN3
7 regulation of osteoclast differentiation GO:0045670 9.52 TFE3 MITF
8 transcription by RNA polymerase II GO:0006366 9.51 POLR2F PAX3
9 neural crest cell migration GO:0001755 9.5 SOX10 EDNRB EDN3
10 enteric nervous system development GO:0048484 9.48 SOX10 EDNRB
11 developmental pigmentation GO:0048066 9.46 KIT EDNRB
12 humoral immune response GO:0006959 9.37 TFEB TFE3
13 pigmentation GO:0043473 9.35 TYR SNAI2 MITF KIT EDNRB
14 vein smooth muscle contraction GO:0014826 9.26 EDNRB EDN3
15 regulation of developmental pigmentation GO:0048070 9.1 EDN3
16 melanocyte differentiation GO:0030318 9.02 SOX10 MITF KIT EDNRB EDN3
17 regulation of transcription, DNA-templated GO:0006355 10.04 TFEC TFEB TFE3 SOX10 SNAI2 PAX3
18 positive regulation of transcription by RNA polymerase II GO:0045944 10.01 TFEC TFEB TFE3 SOX10 PAX3 MITF

Molecular functions related to Waardenburg Syndrome, Type 2a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.86 TFEC TFEB TFE3 SOX10 SNAI2 POLR2F
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.7 TFEC TFEB TFE3 SOX10 SNAI2 PAX3
3 protein dimerization activity GO:0046983 9.26 TFEC TFEB TFE3 MITF
4 DNA-binding transcription factor activity GO:0003700 9.17 TFEC TFEB TFE3 SOX10 SNAI2 PAX3

Sources for Waardenburg Syndrome, Type 2a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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