USH1C
MCID: USH039
MIFTS: 46

Usher Syndrome, Type Ic (USH1C)

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

Aliases & Classifications for Usher Syndrome, Type Ic

MalaCards integrated aliases for Usher Syndrome, Type Ic:

Name: Usher Syndrome, Type Ic 57 73
Usher Syndrome, Type 1c 57 76 53 29 13 6 40
Ush1c 57 12 53 75
Usher Syndrome Type I Acadian Variety 12 75
Usher Syndrome Type 1c 12 15
Usher Syndrome Type Ic 12 75
Usher Syndrome, Type I, Acadian Variety 57
Usher Syndrome, Acadian Variety 53
Usher's Syndrome Type 1c 75
Acadian Usher Syndrome 75
Usher Syndrome 1c 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
first described in acadian population of louisiana
allelic to deafness, neurosensory, autosomal recessive 18
later onset of hearing loss in some patients


HPO:

32
usher syndrome, type ic:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 276904
Disease Ontology 12 DOID:0110830
ICD10 33 H35.5
MedGen 42 C1848604
MeSH 44 D052245
UMLS 73 C1848604

Summaries for Usher Syndrome, Type Ic

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 USH1 (276900). (276904)

MalaCards based summary : Usher Syndrome, Type Ic, also known as usher syndrome, type 1c, is related to usher syndrome, type i and usher syndrome, type iiia. An important gene associated with Usher Syndrome, Type Ic is USH1C (USH1 Protein Network Component Harmonin), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Tight junction. Affiliated tissues include retina, eye and kidney, and related phenotypes are rod-cone dystrophy and congenital sensorineural hearing impairment

Disease Ontology : 12 An Usher syndrome type 1 that has material basis in homozygous or compound heterozygous mutation in the USH1C gene on chromosome 11p15.

UniProtKB/Swiss-Prot : 75 Usher syndrome 1C: 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.

Wikipedia : 76 Usher syndrome, also known as Hallgren syndrome, Usher´┐Ż??Hallgren syndrome, retinitis... more...

Related Diseases for Usher Syndrome, Type Ic

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 Iv
Usher Syndrome Type 2 Usher Syndrome, Type 2b

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

(show all 45)
# Related Disease Score Top Affiliating Genes
1 usher syndrome, type i 32.5 CDH23 CLRN1 MYO7A USH1C
2 usher syndrome, type iiia 31.8 CDH23 CLRN1 MYO7A USH1C
3 usher syndrome, type if 31.8 CDH23 MYO7A USH1C
4 usher syndrome type 2 31.8 CDH23 CLRN1 MYO7A USH1C
5 usher syndrome, type id 31.8 CDH23 MYO7A USH1C
6 usher syndrome, type iic 31.6 CDH23 CLRN1 MYO7A USH1C
7 usher syndrome, type iid 31.6 CACNA1D CDH23 MYO7A USH1C
8 auditory system disease 31.4 CDH23 MYO15A MYO7A USH1C
9 autosomal recessive non-syndromic sensorineural deafness type dfnb 31.4 CDH23 MYO15A MYO7A USH1C
10 nonsyndromic deafness 31.4 CDH23 MYO15A MYO7A USH1C
11 retinitis pigmentosa-deafness syndrome 30.7 CDH23 MYO7A
12 usher syndrome 30.4 CDH23 CLRN1 MYO7A USH1C USHBP1
13 deafness, autosomal recessive 18a 11.8
14 retinitis pigmentosa 11.6
15 retinal degeneration 11.5
16 deafness, autosomal recessive 11.3
17 autoimmune enteropathy 11.2
18 usher syndrome, type iia 11.1
19 deafness, autosomal dominant 20 11.1
20 bardet-biedl syndrome 11.1
21 deafness, autosomal recessive 3 10.2 MYO15A MYO7A
22 deafness, autosomal dominant 11 10.2 MYO15A MYO7A
23 deafness, autosomal dominant 48 10.2 MYO15A MYO7A
24 usher syndrome, type ig 10.2 CDH23 MYO7A
25 leber congenital amaurosis 4 10.2
26 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
27 retinitis 10.2
28 deafness, autosomal recessive 2 10.2 MYO15A MYO7A
29 polycystic kidney disease 10.2
30 deafness, autosomal dominant 22 10.1 MYO15A MYO7A
31 deafness, autosomal recessive 23 10.1 CDH23 MYO7A
32 deafness, autosomal recessive 37 10.1 MYO15A MYO7A
33 hyperinsulinism 10.1
34 deafness, autosomal dominant 17 10.1 MYO15A MYO7A
35 deafness, autosomal recessive 12 10.1 CDH23 MYO7A
36 deafness, autosomal recessive 85 10.1 CDH23 MYO15A MYO7A
37 deafness, autosomal recessive 83 10.1 CDH23 MYO15A MYO7A
38 autosomal recessive nonsyndromic deafness 3 10.1 CDH23 MYO15A MYO7A
39 munchausen by proxy 10.0 ABCC8 KCNJ11
40 cardiomyopathy, dilated, 1o 10.0 ABCC8 KCNJ11
41 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 10.0 ABCC8 KCNJ11
42 acute insulin response 10.0 ABCC8 KCNJ11
43 deafness, autosomal recessive 30 10.0 MYO15A MYO7A
44 maturity-onset diabetes of the young, type 13 9.9 ABCC8 KCNJ11
45 cantu syndrome 9.9 ABCC8 KCNJ11

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



Diseases related to Usher Syndrome, Type Ic

Symptoms & Phenotypes for Usher Syndrome, Type Ic

Symptoms via clinical synopsis from OMIM:

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

Head And Neck Eyes:
retinitis pigmentosa, progressive (prepubertal onset)
retinitis pigmentosa, sector type (in some patients)


Clinical features from OMIM:

276904

Human phenotypes related to Usher Syndrome, Type Ic:

32
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 32 HP:0000510
2 congenital sensorineural hearing impairment 32 HP:0008527
3 vestibular hypofunction 32 HP:0001756

GenomeRNAi Phenotypes related to Usher Syndrome, Type Ic according to GeneCards Suite gene sharing:

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.53 DOCK2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.53 DOCK2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.53 DOCK2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-150 9.53 DLG4 DOCK2 KCNJ11
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 9.53 DOCK2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-171 9.53 KCNJ11
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 9.53 KCNJ11
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-187 9.53 KCNJ11
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.53 DOCK2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.53 DOCK2
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 9.53 DLG4 KCNJ11
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 9.53 KCNJ11
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.53 DOCK2

MGI Mouse Phenotypes related to Usher Syndrome, Type Ic:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.91 CACNA1D CDH23 CLRN1 DLG4 DOCK2 KCNJ11
2 hearing/vestibular/ear MP:0005377 9.7 CACNA1D CDH23 CLRN1 DOCK2 MYO15A MYO7A
3 homeostasis/metabolism MP:0005376 9.7 ABCC8 CACNA1D CDH23 DLG4 DOCK2 KCNJ11
4 nervous system MP:0003631 9.32 CACNA1D CDH23 CLRN1 DLG4 DOCK2 KCNJ11

Drugs & Therapeutics for Usher Syndrome, Type Ic

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

Genetic Tests for Usher Syndrome, Type Ic

Genetic tests related to Usher Syndrome, Type Ic:

# Genetic test Affiliating Genes
1 Usher Syndrome, Type 1c 29 USH1C

Anatomical Context for Usher Syndrome, Type Ic

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

41
Retina, Eye, Kidney, Pancreas

Publications for Usher Syndrome, Type Ic

Articles related to Usher Syndrome, Type Ic:

# Title Authors Year
1
Antisense oligonucleotide therapy rescues disruptions in organization of exploratory movements associated with Usher syndrome type 1C in mice. ( 29037661 )
2018
2
Gene therapy restores auditory and vestibular function in a mouse model of Usher syndrome type 1c. ( 28165476 )
2017
3
Therapy strategies for Usher syndrome Type 1C in the retina. ( 24664766 )
2014
4
PTC124-mediated translational readthrough of a nonsense mutation causing Usher syndrome type 1C. ( 21235327 )
2011
5
Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC. ( 12107438 )
2002
6
Two families from New England with usher syndrome type IC with distinct haplotypes. ( 11239869 )
2001
7
A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C. ( 10973247 )
2000
8
A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C gene. ( 9653658 )
1998
9
Construction of a YAC contig encompassing the Usher syndrome type 1C and familial hyperinsulinism loci on chromosome 11p14-15.1. ( 8828039 )
1996
10
Fine mapping of the usher syndrome type IC to chromosome 11p14 and identification of flanking markers by haplotype analysis. ( 9238080 )
1995

Variations for Usher Syndrome, Type Ic

ClinVar genetic disease variations for Usher Syndrome, Type Ic:

6 (show top 50) (show all 232)
# Gene Variation Type Significance SNP ID Assembly Location
1 USH1C USH1C, IVS5AS, A DEL, -2 deletion Pathogenic
2 USH1C NM_005709.3(USH1C): c.238dupC (p.Arg80Profs) duplication Pathogenic rs397515359 GRCh37 Chromosome 11, 17552956: 17552956
3 USH1C NM_005709.3(USH1C): c.238dupC (p.Arg80Profs) duplication Pathogenic rs397515359 GRCh38 Chromosome 11, 17531409: 17531409
4 USH1C NM_153676.3(USH1C) NT expansion Conflicting interpretations of pathogenicity rs387906330 GRCh37 Chromosome 11, 17548667: 17548711
5 USH1C NM_153676.3(USH1C) NT expansion Conflicting interpretations of pathogenicity rs387906330 GRCh38 Chromosome 11, 17527120: 17527164
6 USH1C NM_005709.3(USH1C): c.216G> A (p.Val72=) single nucleotide variant Pathogenic/Likely pathogenic rs151045328 GRCh37 Chromosome 11, 17552978: 17552978
7 USH1C NM_005709.3(USH1C): c.216G> A (p.Val72=) single nucleotide variant Pathogenic/Likely pathogenic rs151045328 GRCh38 Chromosome 11, 17531431: 17531431
8 USH1C USH1C, IVS1DS, G-T, +1 single nucleotide variant Pathogenic
9 USH1C USH1C, IVS5DS, G-A, +1 single nucleotide variant Pathogenic
10 USH1C NM_005709.3(USH1C): c.91C> T (p.Arg31Ter) single nucleotide variant Pathogenic rs121908370 GRCh37 Chromosome 11, 17554815: 17554815
11 USH1C NM_005709.3(USH1C): c.91C> T (p.Arg31Ter) single nucleotide variant Pathogenic rs121908370 GRCh38 Chromosome 11, 17533268: 17533268
12 USH1C NM_005709.3(USH1C): c.388G> A (p.Val130Ile) single nucleotide variant Benign rs55843567 GRCh37 Chromosome 11, 17548878: 17548878
13 USH1C NM_005709.3(USH1C): c.388G> A (p.Val130Ile) single nucleotide variant Benign rs55843567 GRCh38 Chromosome 11, 17527331: 17527331
14 USH1C NM_153676.3(USH1C): c.308G> A (p.Arg103His) single nucleotide variant Conflicting interpretations of pathogenicity rs397514500 GRCh37 Chromosome 11, 17552780: 17552780
15 USH1C NM_153676.3(USH1C): c.308G> A (p.Arg103His) single nucleotide variant Conflicting interpretations of pathogenicity rs397514500 GRCh38 Chromosome 11, 17531233: 17531233
16 USH1C USH1C, IVS16AS, G-T, -1 single nucleotide variant Pathogenic
17 USH1C USH1C, 1-BP DEL, 1220G deletion Pathogenic
18 USH1C NM_005709.3(USH1C): c.1284+7552A> G single nucleotide variant Likely benign rs397517872 GRCh37 Chromosome 11, 17531396: 17531396
19 USH1C NM_005709.3(USH1C): c.497-4G> A single nucleotide variant Conflicting interpretations of pathogenicity rs397517881 GRCh37 Chromosome 11, 17548591: 17548591
20 USH1C NM_005709.3(USH1C): c.1284+7552A> G single nucleotide variant Likely benign rs397517872 GRCh38 Chromosome 11, 17509849: 17509849
21 USH1C NM_005709.3(USH1C): c.1291C> T (p.Arg431Trp) single nucleotide variant Uncertain significance rs397517874 GRCh37 Chromosome 11, 17523521: 17523521
22 USH1C NM_005709.3(USH1C): c.1291C> T (p.Arg431Trp) single nucleotide variant Uncertain significance rs397517874 GRCh38 Chromosome 11, 17501974: 17501974
23 USH1C NM_005709.3(USH1C): c.1294A> G (p.Lys432Glu) single nucleotide variant Uncertain significance rs148168494 GRCh37 Chromosome 11, 17523518: 17523518
24 USH1C NM_005709.3(USH1C): c.1294A> G (p.Lys432Glu) single nucleotide variant Uncertain significance rs148168494 GRCh38 Chromosome 11, 17501971: 17501971
25 USH1C NM_005709.3(USH1C): c.1441G> A (p.Val481Ile) single nucleotide variant Uncertain significance rs397517875 GRCh37 Chromosome 11, 17522637: 17522637
26 USH1C NM_005709.3(USH1C): c.1441G> A (p.Val481Ile) single nucleotide variant Uncertain significance rs397517875 GRCh38 Chromosome 11, 17501090: 17501090
27 USH1C NM_005709.3(USH1C): c.1518C> T (p.Asn506=) single nucleotide variant Likely benign rs397517876 GRCh37 Chromosome 11, 17519781: 17519781
28 USH1C NM_005709.3(USH1C): c.1518C> T (p.Asn506=) single nucleotide variant Likely benign rs397517876 GRCh38 Chromosome 11, 17498234: 17498234
29 USH1C NM_005709.3(USH1C): c.1541C> A (p.Thr514Asn) single nucleotide variant Uncertain significance rs397517877 GRCh37 Chromosome 11, 17519758: 17519758
30 USH1C NM_005709.3(USH1C): c.1541C> A (p.Thr514Asn) single nucleotide variant Uncertain significance rs397517877 GRCh38 Chromosome 11, 17498211: 17498211
31 USH1C NM_005709.3(USH1C): c.1558G> A (p.Ala520Thr) single nucleotide variant Uncertain significance rs397517878 GRCh37 Chromosome 11, 17519741: 17519741
32 USH1C NM_005709.3(USH1C): c.1558G> A (p.Ala520Thr) single nucleotide variant Uncertain significance rs397517878 GRCh38 Chromosome 11, 17498194: 17498194
33 USH1C NM_005709.3(USH1C): c.1646+1145G> A single nucleotide variant Conflicting interpretations of pathogenicity rs56165709 GRCh37 Chromosome 11, 17517160: 17517160
34 USH1C NM_005709.3(USH1C): c.1646+1145G> A single nucleotide variant Conflicting interpretations of pathogenicity rs56165709 GRCh38 Chromosome 11, 17495613: 17495613
35 USH1C NM_005709.3(USH1C): c.1646+1151G> A single nucleotide variant Likely benign rs201533059 GRCh37 Chromosome 11, 17517154: 17517154
36 USH1C NM_005709.3(USH1C): c.1646+1151G> A single nucleotide variant Likely benign rs201533059 GRCh38 Chromosome 11, 17495607: 17495607
37 USH1C NM_005709.3(USH1C): c.497-4G> A single nucleotide variant Conflicting interpretations of pathogenicity rs397517881 GRCh38 Chromosome 11, 17527044: 17527044
38 USH1C NM_005709.3(USH1C): c.582C> T (p.Gly194=) single nucleotide variant Likely benign rs397517882 GRCh37 Chromosome 11, 17547986: 17547986
39 USH1C NM_005709.3(USH1C): c.582C> T (p.Gly194=) single nucleotide variant Likely benign rs397517882 GRCh38 Chromosome 11, 17526439: 17526439
40 USH1C NM_005709.3(USH1C): c.76C> T (p.Leu26Phe) single nucleotide variant Uncertain significance rs267602805 GRCh37 Chromosome 11, 17554830: 17554830
41 USH1C NM_005709.3(USH1C): c.76C> T (p.Leu26Phe) single nucleotide variant Uncertain significance rs267602805 GRCh38 Chromosome 11, 17533283: 17533283
42 USH1C NM_005709.3(USH1C): c.76C> T (p.Leu26Phe) single nucleotide variant Uncertain significance rs267602805 NCBI36 Chromosome 11, 17511406: 17511406
43 USH1C NM_005709.3(USH1C): c.569C> T (p.Ser190Leu) single nucleotide variant Uncertain significance rs200319849 GRCh37 Chromosome 11, 17548310: 17548310
44 USH1C NM_005709.3(USH1C): c.569C> T (p.Ser190Leu) single nucleotide variant Uncertain significance rs200319849 GRCh38 Chromosome 11, 17526763: 17526763
45 USH1C NM_005709.3(USH1C): c.1340A> G (p.Gln447Arg) single nucleotide variant Uncertain significance rs201600193 GRCh38 Chromosome 11, 17501522: 17501522
46 USH1C NM_005709.3(USH1C): c.1340A> G (p.Gln447Arg) single nucleotide variant Uncertain significance rs201600193 GRCh37 Chromosome 11, 17523069: 17523069
47 USH1C NM_005709.3(USH1C): c.1285-7515C> T single nucleotide variant Uncertain significance rs727505187 GRCh37 Chromosome 11, 17531042: 17531042
48 USH1C NM_005709.3(USH1C): c.1285-7515C> T single nucleotide variant Uncertain significance rs727505187 GRCh38 Chromosome 11, 17509495: 17509495
49 USH1C NM_005709.3(USH1C): c.1285-7567C> T single nucleotide variant Conflicting interpretations of pathogenicity rs727505247 GRCh37 Chromosome 11, 17531094: 17531094
50 USH1C NM_005709.3(USH1C): c.1285-7567C> T single nucleotide variant Conflicting interpretations of pathogenicity rs727505247 GRCh38 Chromosome 11, 17509547: 17509547

Expression for Usher Syndrome, Type Ic

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

Pathways for Usher Syndrome, Type Ic

GO Terms for Usher Syndrome, Type Ic

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

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.77 DLG4 DOCK4 MYO15A TJP1 USH1C
2 microvillus GO:0005902 9.33 CLRN1 MYO7A USH1C
3 stereocilium bundle GO:0032421 9.26 DOCK4 MYO15A
4 stereocilium GO:0032420 9.1 CDH23 CLRN1 DOCK4 MYO15A MYO7A USH1C
5 inward rectifying potassium channel GO:0008282 8.96 ABCC8 KCNJ11
6 plasma membrane GO:0005886 10.06 ABCC8 CACNA1D CDH23 CLRN1 DLG4 DOCK4

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

# Name GO ID Score Top Affiliating Genes
1 regulation of insulin secretion GO:0050796 9.58 ABCC8 CACNA1D KCNJ11
2 inner ear morphogenesis GO:0042472 9.54 MYO15A MYO7A USH1C
3 photoreceptor cell maintenance GO:0045494 9.5 CDH23 CLRN1 USH1C
4 negative regulation of insulin secretion GO:0046676 9.48 ABCC8 KCNJ11
5 auditory receptor cell stereocilium organization GO:0060088 9.46 CLRN1 MYO7A
6 sensory perception of light stimulus GO:0050953 9.46 CDH23 CLRN1 MYO7A USH1C
7 inner ear auditory receptor cell differentiation GO:0042491 9.43 MYO7A USH1C
8 inner ear receptor cell stereocilium organization GO:0060122 9.43 CDH23 MYO7A USH1C
9 equilibrioception GO:0050957 9.26 CDH23 CLRN1 MYO7A USH1C
10 sensory perception of sound GO:0007605 9.17 CACNA1D CDH23 CLRN1 MYO15A MYO7A TJP1

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

# Name GO ID Score Top Affiliating Genes
1 PDZ domain binding GO:0030165 9.33 DLG4 DOCK4 USHBP1
2 spectrin binding GO:0030507 9.32 MYO7A USH1C
3 ankyrin binding GO:0030506 9.26 CACNA1D KCNJ11
4 protein C-terminus binding GO:0008022 9.26 DLG4 KCNJ11 PPP2CA TJP1
5 ATP-activated inward rectifier potassium channel activity GO:0015272 8.62 ABCC8 KCNJ11

Sources for Usher Syndrome, Type Ic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
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