MCID: USH040
MIFTS: 41

Usher Syndrome, Type Id

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

Aliases & Classifications for Usher Syndrome, Type Id

MalaCards integrated aliases for Usher Syndrome, Type Id:

Name: Usher Syndrome, Type Id 57 73
Usher Syndrome, Type 1d 57 76 53 29 13 6 40
Ush1d 57 12 53 75
Usher Syndrome Type 1d 12 15
Usher Syndrome Type Id 12 75
Usher Syndrome, Type Id/f, Digenic 6
Usher Syndrome, Type 1d/f Digenic 57
Usher's Syndrome Type 1d 75
Usher's Syndrome Type 1h 75
Usher Syndrome Type Ih 75
Usher Syndrome 1d/f 75
Usher Syndrome 1d 75
Usher Syndrome 1h 75
Ush1d/f 75
Ush1df 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive
digenic recessive

Miscellaneous:
allelic to deafness, autosomal recessive 12
second most common form of usher syndrome type i
digenic form type id/f caused by digenic mutation in the cdh23 and pcdh15 genes


HPO:

32
usher syndrome, type id:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 601067
Disease Ontology 12 DOID:0110831
ICD10 33 H35.5
MeSH 44 D052245
UMLS 73 C1832845

Summaries for Usher Syndrome, Type Id

OMIM : 57 Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II (276901) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function (Moller et al., 1989). Patients with type III (USH3; 276902) have progressive hearing loss. For a discussion of genetic heterogeneity of Usher syndrome type I, see 276900. (601067)

MalaCards based summary : Usher Syndrome, Type Id, also known as usher syndrome, type 1d, is related to retinitis pigmentosa-deafness syndrome and usher syndrome. An important gene associated with Usher Syndrome, Type Id is PCDH15 (Protocadherin Related 15). Affiliated tissues include retina, and related phenotypes are hearing impairment and rod-cone dystrophy

Disease Ontology : 12 An Usher syndrome type 1 that has material basis in homozygous or compound heterozygous mutation in the CDH23 gene on chromosome 10q22.

UniProtKB/Swiss-Prot : 75 Usher syndrome 1D: 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). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. Usher syndrome 1D/F: USH1DF patients are heterozygous for mutations in CDH23 and PCDH15, indicating a digenic inheritance pattern.

Wikipedia : 76 Usher syndrome, also known as Hallgren syndrome, Usher-Hallgren syndrome, retinitis pigmentosa-dysacusis... more...

Related Diseases for Usher Syndrome, Type Id

Diseases in the Usher Syndrome family:

Usher Syndrome, Type I Usher Syndrome, Type Iia
Usher Syndrome, Type Iiia Usher Syndrome, Type Ic
Usher Syndrome, Type Id Usher Syndrome, Type if
Usher Syndrome, Type Iic Usher Syndrome, Type Ig
Usher Syndrome, Type Iid Usher Syndrome, Type Ih
Usher Syndrome, Type Iiib Usher Syndrome, Type Ij
Usher Syndrome, Type Ik Usher Syndrome Type 2
Usher Syndrome, Type 2b

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

(show all 34)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa-deafness syndrome 28.5 ADGRV1 CDH23 MYO7A PCDH15
2 usher syndrome 25.7 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
3 usher syndrome, type ih 12.3
4 deafness, autosomal recessive 85 10.3 CDH23 MYO7A
5 dfnb1 10.3 MYO7A PCDH15
6 deafness, autosomal recessive 83 10.3 CDH23 MYO7A
7 autosomal recessive nonsyndromic deafness 3 10.3 CDH23 MYO7A
8 deafness, autosomal dominant 6 10.2 CDH23 MYO7A
9 inner ear disease 10.0 CDH23 MYO7A
10 deafness, autosomal recessive 23 10.0 CDH23 MYO7A PCDH15
11 deafness, autosomal recessive 12 10.0 CDH23 MYO7A PCDH15
12 yemenite deaf-blind hypopigmentation syndrome 10.0 MYO7A USH2A
13 auditory system disease 10.0 CDH23 MYO7A PCDH15
14 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.9 CDH23 MYO7A
15 deafness, autosomal dominant 20 9.9 USH1C USH1G
16 usher syndrome, type ic 9.9 CDH23 MYO7A USH1C
17 usher syndrome, type iia 9.9 USH1C USH2A
18 deafness, autosomal dominant 13 9.8 MYO7A USH2A
19 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.5 CDH23 MYO7A PCDH15 USH1C
20 fundus dystrophy 9.4 CDHR1 MYO7A USH2A
21 usher syndrome, type ig 9.4 CDH23 MYO7A PCDH15 USH1G
22 bardet-biedl syndrome 9.4 CDH23 MYO7A PCDH15 USH1C
23 autosomal genetic disease 9.4 MYO7A USH2A
24 sensorineural hearing loss 9.2 CDH23 MYO7A PCDH15 USH2A
25 retinal disease 9.1 MYO7A PCDH15 USH1C USH2A
26 deafness, autosomal recessive 6 9.1 ADGRV1 MYO7A USH2A
27 usher syndrome, type if 8.9 CDH23 MYO7A PCDH15 USH1C USH1G
28 usher syndrome, type i 7.2 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
29 usher syndrome, type iiia 7.2 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
30 usher syndrome, type iic 7.2 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
31 usher syndrome, type iid 7.2 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
32 usher syndrome type 2 7.2 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
33 nonsyndromic deafness 7.2 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
34 retinitis pigmentosa 6.5 ADGRV1 CDH23 CDHR1 MYO7A PCDH15 USH1C

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



Diseases related to Usher Syndrome, Type Id

Symptoms & Phenotypes for Usher Syndrome, Type Id

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
hearing loss, congenital profound
vestibular dysfunction

Head And Neck Eyes:
retinitis pigmentosa


Clinical features from OMIM:

601067

Human phenotypes related to Usher Syndrome, Type Id:

32
# Description HPO Frequency HPO Source Accession
1 hearing impairment 32 HP:0000365
2 rod-cone dystrophy 32 HP:0000510
3 vestibular dysfunction 32 HP:0001751

MGI Mouse Phenotypes related to Usher Syndrome, Type Id:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.73 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
2 hearing/vestibular/ear MP:0005377 9.7 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
3 nervous system MP:0003631 9.5 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
4 vision/eye MP:0005391 9.23 ADGRV1 CDH23 CDHR1 MYO7A PCDH15 USH1C

Drugs & Therapeutics for Usher Syndrome, Type Id

Search Clinical Trials , NIH Clinical Center for Usher Syndrome, Type Id

Genetic Tests for Usher Syndrome, Type Id

Genetic tests related to Usher Syndrome, Type Id:

# Genetic test Affiliating Genes
1 Usher Syndrome, Type 1d 29 CDH23 PCDH15

Anatomical Context for Usher Syndrome, Type Id

MalaCards organs/tissues related to Usher Syndrome, Type Id:

41
Retina

Publications for Usher Syndrome, Type Id

Articles related to Usher Syndrome, Type Id:

# Title Authors Year
1
Expression of cadherin 23 isoforms is not conserved: implications for a mouse model of Usher syndrome type 1D. ( 19756182 )
2009
2
Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D. ( 11857743 )
2002
3
Clinical presentation of DFNB12 and Usher syndrome type 1D. ( 12408077 )
2002
4
Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D. ( 11138008 )
2001
5
Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. ( 11138009 )
2001
6
Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10. ( 8894709 )
1996

Variations for Usher Syndrome, Type Id

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

75 (show all 26)
# Symbol AA change Variation ID SNP ID
1 CDH23 p.Gln1496His VAR_012174
2 CDH23 p.Arg1746Gln VAR_012178
3 CDH23 p.Ala366Thr VAR_024030 rs143282422
4 CDH23 p.Thr1209Ala VAR_024031 rs41281314
5 CDH23 p.Arg1507Gln VAR_024032
6 CDH23 p.Arg3189Trp VAR_024033
7 CDH23 p.Ser3245Phe VAR_024034
8 CDH23 p.Glu247Lys VAR_027318
9 CDH23 p.Ala484Pro VAR_027321
10 CDH23 p.Pro1206Arg VAR_027325
11 CDH23 p.Gly2017Ser VAR_027334
12 CDH23 p.Ser2517Gly VAR_027340
13 CDH23 p.Gly2744Ser VAR_027342
14 CDH23 p.Arg2833Gly VAR_027343
15 CDH23 p.Arg3175His VAR_027347
16 CDH23 p.His755Tyr VAR_046407
17 CDH23 p.Val1090Ile VAR_046410
18 CDH23 p.Asn1098Ser VAR_046411 rs41281310
19 CDH23 p.Pro1788Leu VAR_046419
20 CDH23 p.Arg1912Trp VAR_046423
21 CDH23 p.Asp1930Asn VAR_046424
22 CDH23 p.Asp2376Val VAR_046429
23 CDH23 p.Thr2530Ile VAR_046432
24 CDH23 p.Gly2771Ser VAR_046434
25 CDH23 p.Val2968Ala VAR_046437
26 PCDH15 p.Asp178Gly VAR_069297

ClinVar genetic disease variations for Usher Syndrome, Type Id:

6
(show top 50) (show all 107)
# Gene Variation Type Significance SNP ID Assembly Location
1 CDH23 NM_022124.5(CDH23): c.3880C> T (p.Gln1294Ter) single nucleotide variant Pathogenic rs121908350 GRCh38 Chromosome 10, 71732151: 71732151
2 CDH23 NM_022124.5(CDH23): c.4488G> C (p.Gln1496His) single nucleotide variant Pathogenic rs121908347 GRCh37 Chromosome 10, 73499529: 73499529
3 CDH23 NM_022124.5(CDH23): c.4488G> C (p.Gln1496His) single nucleotide variant Pathogenic rs121908347 GRCh38 Chromosome 10, 71739772: 71739772
4 CDH23 NM_022124.5(CDH23): c.5237G> A (p.Arg1746Gln) single nucleotide variant Pathogenic rs111033270 GRCh37 Chromosome 10, 73539073: 73539073
5 CDH23 NM_022124.5(CDH23): c.5237G> A (p.Arg1746Gln) single nucleotide variant Pathogenic rs111033270 GRCh38 Chromosome 10, 71779316: 71779316
6 CDH23 NM_022124.5(CDH23): c.3842_3844delTGA (p.Met1281del) deletion Pathogenic rs796051860 GRCh37 Chromosome 10, 73491870: 73491872
7 CDH23 NM_022124.5(CDH23): c.3842_3844delTGA (p.Met1281del) deletion Pathogenic rs796051860 GRCh38 Chromosome 10, 71732113: 71732115
8 CDH23 NM_022124.5(CDH23): c.7362+5G> A single nucleotide variant Pathogenic rs727502931 GRCh37 Chromosome 10, 73559391: 73559391
9 CDH23 NM_022124.5(CDH23): c.7362+5G> A single nucleotide variant Pathogenic rs727502931 GRCh38 Chromosome 10, 71799634: 71799634
10 CDH23 NM_022124.5(CDH23): c.3880C> T (p.Gln1294Ter) single nucleotide variant Pathogenic rs121908350 GRCh37 Chromosome 10, 73491908: 73491908
11 CDH23 NM_022124.5(CDH23): c.193delC (p.Leu65Trpfs) deletion Pathogenic rs796051861 GRCh37 Chromosome 10, 73269886: 73269886
12 CDH23 NM_022124.5(CDH23): c.193delC (p.Leu65Trpfs) deletion Pathogenic rs796051861 GRCh38 Chromosome 10, 71510129: 71510129
13 PCDH15 NM_033056.3(PCDH15): c.733C> T (p.Arg245Ter) single nucleotide variant Pathogenic rs111033260 GRCh37 Chromosome 10, 56077174: 56077174
14 PCDH15 NM_033056.3(PCDH15): c.733C> T (p.Arg245Ter) single nucleotide variant Pathogenic rs111033260 GRCh38 Chromosome 10, 54317414: 54317414
15 PCDH15 PCDH15, 3-BP DEL, 5601AAC deletion Pathogenic
16 PCDH15 PCDH15, 1-BP DEL, 16T deletion Pathogenic
17 CDH23 NM_022124.5(CDH23): c.1246_1266del21 (p.Ala416_Glu422del) deletion Likely pathogenic rs397517305 GRCh37 Chromosome 10, 73405693: 73405713
18 CDH23 NM_022124.5(CDH23): c.1246_1266del21 (p.Ala416_Glu422del) deletion Likely pathogenic rs397517305 GRCh38 Chromosome 10, 71645936: 71645956
19 CDH23 NM_022124.5(CDH23): c.2012delT (p.Phe671Serfs) deletion Pathogenic rs397517313 GRCh37 Chromosome 10, 73447429: 73447429
20 CDH23 NM_022124.5(CDH23): c.2012delT (p.Phe671Serfs) deletion Pathogenic rs397517313 GRCh38 Chromosome 10, 71687672: 71687672
21 CDH23 NM_022124.5(CDH23): c.3481C> T (p.Arg1161Ter) single nucleotide variant Pathogenic rs397517323 GRCh37 Chromosome 10, 73485179: 73485179
22 CDH23 NM_022124.5(CDH23): c.3481C> T (p.Arg1161Ter) single nucleotide variant Pathogenic rs397517323 GRCh38 Chromosome 10, 71725422: 71725422
23 CDH23 NM_022124.5(CDH23): c.3628C> T (p.Gln1210Ter) single nucleotide variant Pathogenic rs397517326 GRCh37 Chromosome 10, 73490274: 73490274
24 CDH23 NM_022124.5(CDH23): c.3628C> T (p.Gln1210Ter) single nucleotide variant Pathogenic rs397517326 GRCh38 Chromosome 10, 71730517: 71730517
25 CDH23 NM_022124.5(CDH23): c.3706C> T (p.Arg1236Ter) single nucleotide variant Pathogenic rs397517327 GRCh37 Chromosome 10, 73490352: 73490352
26 CDH23 NM_022124.5(CDH23): c.3706C> T (p.Arg1236Ter) single nucleotide variant Pathogenic rs397517327 GRCh38 Chromosome 10, 71730595: 71730595
27 CDH23 NM_022124.5(CDH23): c.4309C> T (p.Arg1437Ter) single nucleotide variant Pathogenic rs397517329 GRCh37 Chromosome 10, 73498354: 73498354
28 CDH23 NM_022124.5(CDH23): c.4309C> T (p.Arg1437Ter) single nucleotide variant Pathogenic rs397517329 GRCh38 Chromosome 10, 71738597: 71738597
29 CDH23 NM_022124.5(CDH23): c.46delG (p.Val16Cysfs) deletion Pathogenic rs397517331 GRCh37 Chromosome 10, 73199634: 73199634
30 CDH23 NM_022124.5(CDH23): c.46delG (p.Val16Cysfs) deletion Pathogenic rs397517331 GRCh38 Chromosome 10, 71439877: 71439877
31 CDH23 NM_022124.5(CDH23): c.5272C> T (p.Gln1758Ter) single nucleotide variant Pathogenic rs397517337 GRCh37 Chromosome 10, 73539108: 73539108
32 CDH23 NM_022124.5(CDH23): c.5272C> T (p.Gln1758Ter) single nucleotide variant Pathogenic rs397517337 GRCh38 Chromosome 10, 71779351: 71779351
33 CDH23 NM_022124.5(CDH23): c.5712+1G> A single nucleotide variant Pathogenic rs397517341 GRCh37 Chromosome 10, 73544858: 73544858
34 CDH23 NM_022124.5(CDH23): c.5712+1G> A single nucleotide variant Pathogenic rs397517341 GRCh38 Chromosome 10, 71785101: 71785101
35 CDH23 NM_022124.5(CDH23): c.5712G> A (p.Thr1904=) single nucleotide variant Pathogenic rs397517342 GRCh37 Chromosome 10, 73544857: 73544857
36 CDH23 NM_022124.5(CDH23): c.5712G> A (p.Thr1904=) single nucleotide variant Pathogenic rs397517342 GRCh38 Chromosome 10, 71785100: 71785100
37 CDH23 NM_022124.5(CDH23): c.5923+1G> A single nucleotide variant Pathogenic rs397517346 GRCh37 Chromosome 10, 73548800: 73548800
38 CDH23 NM_022124.5(CDH23): c.5923+1G> A single nucleotide variant Pathogenic rs397517346 GRCh38 Chromosome 10, 71789043: 71789043
39 CDH23 NM_022124.5(CDH23): c.6049+1G> A single nucleotide variant Pathogenic rs111033247 GRCh37 Chromosome 10, 73550171: 73550171
40 CDH23 NM_022124.5(CDH23): c.6049+1G> A single nucleotide variant Pathogenic rs111033247 GRCh38 Chromosome 10, 71790414: 71790414
41 CDH23 NM_022124.5(CDH23): c.6049G> A (p.Gly2017Ser) single nucleotide variant Likely pathogenic rs183431253 GRCh37 Chromosome 10, 73550170: 73550170
42 CDH23 NM_022124.5(CDH23): c.6049G> A (p.Gly2017Ser) single nucleotide variant Likely pathogenic rs183431253 GRCh38 Chromosome 10, 71790413: 71790413
43 CDH23 NM_022124.5(CDH23): c.6050-9G> A single nucleotide variant Pathogenic rs367928692 GRCh37 Chromosome 10, 73550880: 73550880
44 CDH23 NM_022124.5(CDH23): c.6050-9G> A single nucleotide variant Pathogenic rs367928692 GRCh38 Chromosome 10, 71791123: 71791123
45 CDH23 NM_022124.5(CDH23): c.6412delG (p.Glu2138Serfs) deletion Likely pathogenic rs111033473 GRCh37 Chromosome 10, 73553097: 73553097
46 CDH23 NM_022124.5(CDH23): c.6412delG (p.Glu2138Serfs) deletion Likely pathogenic rs111033473 GRCh38 Chromosome 10, 71793340: 71793340
47 CDH23 NM_022124.5(CDH23): c.6968delC (p.Pro2323Leufs) deletion Pathogenic rs397517350 GRCh37 Chromosome 10, 73558249: 73558249
48 CDH23 NM_022124.5(CDH23): c.6968delC (p.Pro2323Leufs) deletion Pathogenic rs397517350 GRCh38 Chromosome 10, 71798492: 71798492
49 CDH23 NM_022124.5(CDH23): c.7362G> A (p.Thr2454=) single nucleotide variant Likely pathogenic rs370983472 GRCh37 Chromosome 10, 73559386: 73559386
50 CDH23 NM_022124.5(CDH23): c.7362G> A (p.Thr2454=) single nucleotide variant Likely pathogenic rs370983472 GRCh38 Chromosome 10, 71799629: 71799629

Expression for Usher Syndrome, Type Id

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

Pathways for Usher Syndrome, Type Id

GO Terms for Usher Syndrome, Type Id

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

# Name GO ID Score Top Affiliating Genes
1 synapse GO:0045202 9.73 ADGRV1 MYO7A PCDH15 USH1C
2 photoreceptor outer segment GO:0001750 9.54 MYO7A PCDH15 USH1C
3 microvillus GO:0005902 9.48 MYO7A USH1C
4 photoreceptor inner segment GO:0001917 9.46 MYO7A USH1C USH1G USH2A
5 stereocilium bundle GO:0032421 9.4 PCDH15 USH2A
6 stereocilia ankle link GO:0002141 9.32 USH1C USH2A
7 stereocilia ankle link complex GO:0002142 9.26 USH1C USH2A
8 photoreceptor connecting cilium GO:0032391 9.26 MYO7A USH1C USH1G USH2A
9 stereocilium GO:0032420 9.02 ADGRV1 CDH23 MYO7A PCDH15 USH1C
10 plasma membrane GO:0005886 10 ADGRV1 CDH23 CDHR1 PCDH15 USH1C USH1G

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.8 ADGRV1 CDH23 MYO7A PCDH15 USH2A
2 sensory perception of sound GO:0007605 9.8 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
3 inner ear receptor cell stereocilium organization GO:0060122 9.72 CDH23 MYO7A PCDH15 USH1C USH1G
4 photoreceptor cell maintenance GO:0045494 9.7 ADGRV1 CDH23 CDHR1 PCDH15 USH1C USH1G
5 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.69 CDH23 CDHR1 PCDH15
6 inner ear morphogenesis GO:0042472 9.63 MYO7A USH1C USH1G
7 inner ear auditory receptor cell differentiation GO:0042491 9.61 MYO7A PCDH15 USH1C
8 locomotory behavior GO:0007626 9.55 CDH23 PCDH15
9 inner ear development GO:0048839 9.54 MYO7A PCDH15
10 inner ear receptor cell differentiation GO:0060113 9.54 MYO7A USH1G USH2A
11 actin filament bundle assembly GO:0051017 9.52 PCDH15 USH1C
12 sensory perception of light stimulus GO:0050953 9.5 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
13 auditory receptor cell stereocilium organization GO:0060088 9.49 MYO7A PCDH15
14 maintenance of animal organ identity GO:0048496 9.48 ADGRV1 USH2A
15 equilibrioception GO:0050957 9.02 CDH23 MYO7A PCDH15 USH1C USH1G

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

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.26 ADGRV1 CDH23 CDHR1 PCDH15
2 spectrin binding GO:0030507 8.8 MYO7A USH1C USH1G

Sources for Usher Syndrome, Type Id

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