MCID: USH032
MIFTS: 45

Usher Syndrome, Type 2a

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

Aliases & Classifications for Usher Syndrome, Type 2a

MalaCards integrated aliases for Usher Syndrome, Type 2a:

Name: Usher Syndrome, Type 2a 54 29 13
Usher Syndrome Type 2a 12 50 24 14
Ush2a 12 50 24 71
Usher Syndrome Type Iia 12 71
Retinal Disease in Usher Syndrome Type Iia, Modifier of 54
Usher's Syndrome Type 2a 71
Usher Syndrome, Type Iia 69
Usher Syndrome 2a 71
Ushiia 71
Ush2 50
Us2 50

Characteristics:

OMIM:

54
Miscellaneous:
accounts for 70% of all usher syndrome patients

Inheritance:
autosomal recessive


HPO:

32
usher syndrome, type 2a:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 276901
Disease Ontology 12 DOID:0110838
ICD10 33 H35.5
MedGen 40 C1848634
MeSH 42 D052245

Summaries for Usher Syndrome, Type 2a

NIH Rare Diseases : 50 usher syndrome type 2a is a genetic condition characterized by hearing loss from birth and progressive vision loss that begins in adolescence or adulthood. vision loss is due to retinitis pigmentosa. night vision loss begins first, followed by blind spots that develop in the side (peripheral) vision. over time, these blind spots enlarge and merge to produce tunnel vision. in some cases, vision is further impaired by clouding of the front surface of the eye (cataracts). hearing loss ranges from mild to severe and mainly affects high tones. the degree of hearing loss varies within and among families with this condition. unlike other forms of usher syndrome, people with type 2a do not have difficulties with balance caused by inner ear problems. usher syndrome type 2a is caused by mutations the ush2a gene and is inherited in an autosomal recessive manner. last updated: 9/20/2011

MalaCards based summary : Usher Syndrome, Type 2a, also known as usher syndrome type 2a, is related to usher syndrome type 2 and usher syndrome, type 2c, and has symptoms including rod-cone dystrophy and congenital sensorineural hearing impairment. An important gene associated with Usher Syndrome, Type 2a is USH2A (Usherin), and among its related pathways/superpathways are Colorectal Cancer Metastasis and IL-2 Gene Expression in Activated and Quiescent T-Cells. Affiliated tissues include eye, and related phenotypes are digestive/alimentary and endocrine/exocrine gland

Disease Ontology : 12 An Usher syndrome type 2 characterized by moderate to severe sensorineural hearing loss, mainly affecting perception of high frequency sounds and progressive retinitis pigmentosa that has material basis in homozygous or compound heterozygous mutation in the USH2A gene on chromosome 1q41.

OMIM : 54
Usher syndrome is a clinically and genetically heterogeneous autosomal recessive disorder characterized by sensorineural hearing deficiencies at birth and later development of progressive retinitis pigmentosa (RP). It is the most frequent cause of combined deafness and blindness in adults and affects 3 to 6% of children born with hearing impairment. In brief, patients with Usher syndrome type II have mild hearing impairment with normal vestibular responses. Type II is the most common of the 3 Usher syndromes (Eudy et al., 1998). See 276900 for clinical characterization of Usher syndrome types I, II, and III. (276901)

UniProtKB/Swiss-Prot : 71 Usher syndrome 2A: USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses.

Related Diseases for Usher Syndrome, Type 2a

Diseases in the Usher Syndrome family:

Usher Syndrome, Type 2a Usher Syndrome, Type 3a
Usher Syndrome, Type 2c Usher Syndrome Type 3b
Usher Syndrome, Type 2d Usher Syndrome, Type Ik
Usher Syndrome, Type 1d Usher Syndrome, Type 1f
Usher Syndrome, Type 1c Usher Syndrome, Type 1b
Usher Syndrome, Type Ij Usher Syndrome, Type 1g
Usher Syndrome Type 2 Usher Syndrome Type 1h
Usher Syndrome, Type 2b

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

(show all 27)
id Related Disease Score Top Affiliating Genes
1 usher syndrome type 2 11.1
2 usher syndrome, type 2c 10.9
3 usher syndrome, type 2d 10.9
4 usher syndrome, type 3a 10.7
5 usher syndrome type 3b 10.7
6 usher syndrome, type 1d 10.7
7 usher syndrome, type 1f 10.7
8 usher syndrome, type 1c 10.7
9 usher syndrome, type 1b 10.7
10 usher syndrome, type ij 10.7
11 usher syndrome, type 1g 10.7
12 robinow syndrome, autosomal dominant 1 10.3 GSK3B USH2A
13 deafness, autosomal recessive 12 10.2 USH1C USH2A
14 usher syndrome 10.2
15 deafness, autosomal recessive 53 10.1 EYA4 USH2A
16 celiac disease 11 10.1 EGF EYA4
17 retinitis pigmentosa 61 10.1 USH1C USH2A
18 desmoid disease, hereditary 9.9 GSK3B MAPRE2
19 herpes simplex 9.9
20 asthma-related traits 8 9.6 PDZD7 USH1C USH2A WHRN
21 trichohepatoenteric syndrome 1 9.6 PDZD7 USH1C USH2A WHRN
22 brugada syndrome 9.6 PDZD7 USH1C USH2A WHRN
23 deafness, autosomal recessive 2 9.6 GSK3B USH1C USH2A WHRN
24 fibrosclerosis of breast 9.5 EGF TGFB2
25 autosomal recessive nonsyndromic deafness 9.5 EYA4 USH1C USH2A WHRN
26 usher syndrome type 1h 9.3 GSK3B PDZD7 USH1C USH2A WHRN
27 scar contracture 9.1 PDZD7 RD3 USH1C USH2A WHRN

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



Diseases related to Usher Syndrome, Type 2a

Symptoms & Phenotypes for Usher Syndrome, Type 2a

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Ears:
normal vestibular response
hearing loss, congenital, sensorineural, moderate-severe

Head And Neck- Eyes:
retinitis pigmentosa, progressive


Clinical features from OMIM:

276901

Human phenotypes related to Usher Syndrome, Type 2a:

32
id Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 32 HP:0000510
2 congenital sensorineural hearing impairment 32 HP:0008527

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.8 EGF EYA4 GSK3B HLX TGFB2 USH1C
2 endocrine/exocrine gland MP:0005379 9.65 WHRN EGF GSK3B HLX TGFB2
3 hearing/vestibular/ear MP:0005377 9.63 TGFB2 USH1C USH2A WHRN EYA4 PDZD7
4 nervous system MP:0003631 9.56 GSK3B HLX PDZD7 RD3 TGFB2 USH1C
5 vision/eye MP:0005391 9.17 EGF PDZD7 RD3 TGFB2 USH1C USH2A

Drugs & Therapeutics for Usher Syndrome, Type 2a

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Rate of Progression in USH2A Related Retinal Degeneration Recruiting NCT03146078

Search NIH Clinical Center for Usher Syndrome, Type 2a

Genetic Tests for Usher Syndrome, Type 2a

Genetic tests related to Usher Syndrome, Type 2a:

id Genetic test Affiliating Genes
1 Usher Syndrome, Type 2a 29
2 Usher Syndrome Type 2a 24 USH2A

Anatomical Context for Usher Syndrome, Type 2a

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

39
Eye

Publications for Usher Syndrome, Type 2a

Articles related to Usher Syndrome, Type 2a:

id Title Authors Year
1
Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II. ( 15015129 )
2004
2
Semen analysis in the Usher syndrome type 2A. ( 10325550 )
1999
3
The Usher syndrome type 2A: clinical findings in obligate carriers. ( 7782174 )
1995
4
Ophthalmologic findings in Usher syndrome type 2A. ( 8749051 )
1995

Variations for Usher Syndrome, Type 2a

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

71 (show top 50) (show all 59)
id Symbol AA change Variation ID SNP ID
1 USH2A p.Cys163Tyr VAR_025761
2 USH2A p.Val218Glu VAR_025762 rs397518026
3 USH2A p.Cys319Tyr VAR_025764 rs121912599
4 USH2A p.Arg334Trp VAR_025765 rs397517963
5 USH2A p.Asn346His VAR_025766 rs369522997
6 USH2A p.Cys419Phe VAR_025767 rs121912600
7 USH2A p.Cys536Arg VAR_025769 rs111033273
8 USH2A p.Leu555Val VAR_025770 rs35818432
9 USH2A p.His610Pro VAR_025771
10 USH2A p.Cys759Phe VAR_025775 rs80338902
11 USH2A p.Pro761Arg VAR_025776
12 USH2A p.Thr1515Met VAR_025779 rs373599651
13 USH2A p.Arg4115Cys VAR_025780 rs111033275
14 USH2A p.Thr4425Met VAR_025781 rs201238640
15 USH2A p.Leu280Phe VAR_054558
16 USH2A p.Glu284Lys VAR_054559
17 USH2A p.Arg303Cys VAR_054560
18 USH2A p.Arg303Ser VAR_054561 rs748465849
19 USH2A p.Arg334Gln VAR_054563 rs758303489
20 USH2A p.Thr352Ile VAR_054564 rs780308389
21 USH2A p.Asn357Thr VAR_054565
22 USH2A p.Pro1212Leu VAR_054579
23 USH2A p.Val1833Glu VAR_054584
24 USH2A p.Ala2249Asp VAR_054588
25 USH2A p.Arg2354His VAR_054591 rs201386640
26 USH2A p.Ala2795Ser VAR_054593
27 USH2A p.Cys3251Arg VAR_054598 rs527236118
28 USH2A p.Cys3267Arg VAR_054599 rs111033263
29 USH2A p.Cys3282Arg VAR_054600
30 USH2A p.Pro3504Thr VAR_054602
31 USH2A p.Trp3521Arg VAR_054603 rs111033264
32 USH2A p.Thr3571Met VAR_054604 rs202175091
33 USH2A p.Gly3895Glu VAR_054608
34 USH2A p.Thr3976Met VAR_054609 rs142381713
35 USH2A p.Ser4054Ile VAR_054610
36 USH2A p.Pro4232Arg VAR_054611 rs745371873
37 USH2A p.Thr4337Met VAR_054612 rs527236137
38 USH2A p.Thr4439Ile VAR_054614 rs753330544
39 USH2A p.Tyr4487Cys VAR_054615 rs768893227
40 USH2A p.Gln4592His VAR_054616
41 USH2A p.Leu4795Arg VAR_054618 rs199851839
42 USH2A p.Pro4818Leu VAR_054619 rs143344549
43 USH2A p.Gly44Arg VAR_071996
44 USH2A p.Ser180Pro VAR_071997
45 USH2A p.Val382Met VAR_071998 rs750651679
46 USH2A p.Cys691Tyr VAR_071999
47 USH2A p.Gly1734Arg VAR_072003
48 USH2A p.Arg1777Trp VAR_072004 rs770329105
49 USH2A p.Gly1840Val VAR_072006
50 USH2A p.Pro1843Leu VAR_072007 rs200209833

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

6 (show top 50) (show all 123)
id Gene Variation Type Significance SNP ID Assembly Location
1 USH2A NM_206933.2(USH2A): c.2299delG (p.Glu767Serfs) deletion Pathogenic rs80338903 GRCh37 Chromosome 1, 216420437: 216420437
2 USH2A NM_206933.2(USH2A): c.2898delG (p.Thr967Leufs) deletion Pathogenic rs397518008 GRCh37 Chromosome 1, 216405390: 216405390
3 USH2A NM_007123.5(USH2A): c.4338_4339delCT (p.Cys1447Glnfs) deletion Pathogenic rs111033367 GRCh37 Chromosome 1, 216363622: 216363623
4 USH2A NM_206933.2(USH2A): c.779T> G (p.Leu260Ter) single nucleotide variant Pathogenic rs121912598 GRCh37 Chromosome 1, 216538300: 216538300
5 USH2A NM_206933.2(USH2A): c.11864G> A (p.Trp3955Ter) single nucleotide variant Pathogenic rs111033364 GRCh37 Chromosome 1, 215901574: 215901574
6 USH2A NM_206933.2(USH2A): c.949C> A (p.Arg317=) single nucleotide variant Pathogenic rs111033272 GRCh37 Chromosome 1, 216498841: 216498841
7 USH2A NM_206933.2(USH2A): c.1256G> T (p.Cys419Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121912600 GRCh37 Chromosome 1, 216497582: 216497582
8 USH2A NM_206933.2(USH2A): c.240_241insGATC (p.Gln81Aspfs) insertion Pathogenic rs587776538 GRCh37 Chromosome 1, 216595438: 216595439
9 USH2A NM_206933.2(USH2A): c.2209C> T (p.Arg737Ter) single nucleotide variant Pathogenic rs111033334 GRCh37 Chromosome 1, 216420527: 216420527
10 USH2A NM_206933.2(USH2A): c.7595-2144A> G single nucleotide variant Pathogenic/Likely pathogenic rs786200928 GRCh37 Chromosome 1, 216064540: 216064540
11 USH2A NM_206933.2(USH2A): c.3129dupT (p.Val1044Cysfs) duplication Pathogenic rs786205115 GRCh38 Chromosome 1, 216217415: 216217415
12 USH2A NM_206933.2(USH2A): c.8890dupT (p.Trp2964Leufs) duplication Pathogenic rs786205116 GRCh37 Chromosome 1, 216019331: 216019331
13 PDZD7 NM_001195263.1(PDZD7): c.166dupC (p.Arg56Profs) duplication risk factor rs587776894 GRCh37 Chromosome 10, 102789811: 102789811
14 USH2A NM_206933.2(USH2A): c.10190_10191delAA (p.Lys3397Argfs) deletion Pathogenic rs397517964 GRCh37 Chromosome 1, 215960208: 215960209
15 USH2A NM_206933.2(USH2A): c.1036A> C (p.Asn346His) single nucleotide variant Likely pathogenic rs369522997 GRCh37 Chromosome 1, 216498754: 216498754
16 USH2A NM_206933.2(USH2A): c.10450C> T (p.Arg3484Ter) single nucleotide variant Likely pathogenic rs111033379 GRCh37 Chromosome 1, 215956215: 215956215
17 USH2A NM_206933.2(USH2A): c.10561T> C (p.Trp3521Arg) single nucleotide variant Pathogenic/Likely pathogenic rs111033264 GRCh37 Chromosome 1, 215956104: 215956104
18 USH2A NM_206933.2(USH2A): c.10712C> T (p.Thr3571Met) single nucleotide variant Likely pathogenic rs202175091 GRCh37 Chromosome 1, 215955412: 215955412
19 USH2A NM_206933.2(USH2A): c.10724G> A (p.Cys3575Tyr) single nucleotide variant Likely pathogenic rs111033265 GRCh37 Chromosome 1, 215955400: 215955400
20 USH2A NM_206933.2(USH2A): c.10759C> T (p.Gln3587Ter) single nucleotide variant Likely pathogenic rs111033418 GRCh37 Chromosome 1, 215953365: 215953365
21 USH2A NM_206933.2(USH2A): c.11048-1G> A single nucleotide variant Pathogenic rs111033414 GRCh37 Chromosome 1, 215933186: 215933186
22 USH2A NM_206933.2(USH2A): c.11231+1G> T single nucleotide variant Likely pathogenic rs111033382 GRCh37 Chromosome 1, 215933001: 215933001
23 USH2A NM_206933.2(USH2A): c.11411delC (p.Pro3804Leufs) deletion Pathogenic rs397517973 GRCh37 Chromosome 1, 215916656: 215916656
24 USH2A NM_206933.2(USH2A): c.1143+1G> A single nucleotide variant Pathogenic rs397517974 GRCh37 Chromosome 1, 216498646: 216498646
25 USH2A NM_206933.2(USH2A): c.11954G> A (p.Trp3985Ter) single nucleotide variant Pathogenic rs397517976 GRCh37 Chromosome 1, 215901484: 215901484
26 USH2A NM_206933.2(USH2A): c.12067-1G> C single nucleotide variant Pathogenic rs397517977 GRCh37 Chromosome 1, 215853719: 215853719
27 USH2A NM_206933.2(USH2A): c.12067-2A> G single nucleotide variant Pathogenic rs397517978 GRCh37 Chromosome 1, 215853720: 215853720
28 USH2A NM_206933.2(USH2A): c.12295-2A> G single nucleotide variant Pathogenic rs151148854 GRCh37 Chromosome 1, 215848960: 215848960
29 USH2A NM_206933.2(USH2A): c.1227G> C (p.Trp409Cys) single nucleotide variant Likely pathogenic rs397517979 GRCh37 Chromosome 1, 216497611: 216497611
30 USH2A NM_206933.2(USH2A): c.12294+1G> C single nucleotide variant Likely pathogenic rs111033526 GRCh37 Chromosome 1, 215853490: 215853490
31 USH2A NM_206933.2(USH2A): c.12714T> G (p.Tyr4238Ter) single nucleotide variant Pathogenic rs397517981 GRCh37 Chromosome 1, 215848539: 215848539
32 USH2A NM_206933.2(USH2A): c.12739G> A (p.Gly4247Arg) single nucleotide variant Likely pathogenic rs397517982 GRCh37 Chromosome 1, 215848514: 215848514
33 USH2A NM_206933.2(USH2A): c.12868C> T (p.Gln4290Ter) single nucleotide variant Pathogenic rs397517983 GRCh37 Chromosome 1, 215848385: 215848385
34 USH2A NM_206933.2(USH2A): c.13130C> A (p.Ser4377Ter) single nucleotide variant Pathogenic/Likely pathogenic rs111033385 GRCh37 Chromosome 1, 215848123: 215848123
35 USH2A NM_206933.2(USH2A): c.13313G> A (p.Trp4438Ter) single nucleotide variant Likely pathogenic rs111033417 GRCh37 Chromosome 1, 215847940: 215847940
36 USH2A NM_206933.2(USH2A): c.14031_14032insA (p.Ala4678Serfs) insertion Pathogenic rs397517988 GRCh37 Chromosome 1, 215844416: 215844416
37 USH2A NM_206933.2(USH2A): c.14180G> A (p.Trp4727Ter) single nucleotide variant Pathogenic rs397517989 GRCh37 Chromosome 1, 215824097: 215824097
38 USH2A NM_206933.2(USH2A): c.14287G> A (p.Gly4763Arg) single nucleotide variant Likely pathogenic rs397517990 GRCh37 Chromosome 1, 215823990: 215823990
39 USH2A NM_206933.2(USH2A): c.14911C> T (p.Arg4971Ter) single nucleotide variant Pathogenic rs397517994 GRCh37 Chromosome 1, 215813957: 215813957
40 USH2A NM_206933.2(USH2A): c.1606T> C (p.Cys536Arg) single nucleotide variant Pathogenic rs111033273 GRCh37 Chromosome 1, 216495263: 216495263
41 USH2A NM_007123.5(USH2A): c.1841-2A> G single nucleotide variant Pathogenic rs397518003 GRCh37 Chromosome 1, 216462754: 216462754
42 USH2A NM_206933.2(USH2A): c.3309C> A (p.Tyr1103Ter) single nucleotide variant Pathogenic rs397518011 GRCh37 Chromosome 1, 216380622: 216380622
43 USH2A NM_206933.2(USH2A): c.3435delA (p.Val1147Serfs) deletion Pathogenic rs397518012 GRCh37 Chromosome 1, 216373345: 216373345
44 USH2A NM_206933.2(USH2A): c.3558delT (p.Cys1186Trpfs) deletion Pathogenic/Likely pathogenic rs397518014 GRCh37 Chromosome 1, 216373222: 216373222
45 USH2A NM_206933.2(USH2A): c.4133_4134dupTC (p.Asn1379Serfs) duplication Pathogenic rs397518015 GRCh37 Chromosome 1, 216370012: 216370013
46 USH2A NM_206933.2(USH2A): c.5001_5002insA (p.Gly1668Argfs) insertion Pathogenic rs397518018 GRCh37 Chromosome 1, 216258206: 216258206
47 USH2A NM_206933.2(USH2A): c.5581G> A (p.Gly1861Ser) single nucleotide variant Likely pathogenic rs375668376 GRCh37 Chromosome 1, 216246634: 216246634
48 USH2A NM_206933.2(USH2A): c.5788C> T (p.Arg1930Ter) single nucleotide variant Pathogenic rs397518021 GRCh37 Chromosome 1, 216246300: 216246300
49 USH2A NM_206933.2(USH2A): c.5858-1G> A single nucleotide variant Pathogenic rs397518023 GRCh37 Chromosome 1, 216243635: 216243635
50 USH2A NM_206933.2(USH2A): c.6224G> A (p.Trp2075Ter) single nucleotide variant Pathogenic rs111033386 GRCh37 Chromosome 1, 216219874: 216219874

Expression for Usher Syndrome, Type 2a

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

Pathways for Usher Syndrome, Type 2a

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

id Super pathways Score Top Affiliating Genes
1 11.35 EGF GSK3B TGFB2
2
Show member pathways
10.49 EGF GSK3B TGFB2

GO Terms for Usher Syndrome, Type 2a

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

id Name GO ID Score Top Affiliating Genes
1 photoreceptor connecting cilium GO:0032391 9.43 USH2A WHRN
2 photoreceptor inner segment GO:0001917 9.43 USH1C USH2A WHRN
3 stereocilium GO:0032420 9.4 USH1C WHRN
4 stereocilium bundle GO:0032421 9.37 USH2A WHRN
5 periciliary membrane compartment GO:1990075 9.32 USH2A WHRN
6 stereocilia ankle link complex GO:0002142 9.16 USH2A WHRN
7 stereocilia ankle link GO:0002141 9.13 PDZD7 USH2A WHRN
8 USH2 complex GO:1990696 8.8 PDZD7 USH2A WHRN

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

id Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.54 EYA4 RD3 USH2A
2 inner ear development GO:0048839 9.46 EYA4 TGFB2
3 epithelial to mesenchymal transition GO:0001837 9.43 GSK3B TGFB2
4 photoreceptor cell maintenance GO:0045494 9.4 USH1C USH2A
5 establishment of protein localization GO:0045184 9.33 PDZD7 USH2A WHRN
6 inner ear receptor stereocilium organization GO:0060122 9.32 USH1C WHRN
7 auditory receptor cell stereocilium organization GO:0060088 9.26 PDZD7 WHRN
8 sensory perception of sound GO:0007605 9.26 EYA4 USH1C USH2A WHRN
9 sensory perception of light stimulus GO:0050953 8.8 USH1C USH2A WHRN

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

id Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.36 EGF EYA4 GSK3B HLX MAPRE2 PDZD7

Sources for Usher Syndrome, Type 2a

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