MCID: DFN133
MIFTS: 35

Deafness, Autosomal Recessive 9

Categories: Genetic diseases, Rare diseases, Ear diseases, Fetal diseases, Cardiovascular diseases, Blood diseases, Neuronal diseases

Aliases & Classifications for Deafness, Autosomal Recessive 9

MalaCards integrated aliases for Deafness, Autosomal Recessive 9:

Name: Deafness, Autosomal Recessive 9 53 28 69
Auditory Neuropathy, Autosomal Recessive, 1 53 71 28 13
Neurosensory Nonsyndromic Recessive Deafness 9 53 12 71
Dfnb9 53 12 71
Autosomal Recessive Nonsyndromic Deafness 9 12 14
Nsrd9 53 71
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 9 71
Neurosensory Nonsyndromic Recessive Deafness 9; Nsrd9 53
Nonsyndromic Auditory Neuropathy Autosomal Recessive 71
Deafness Neurosensory Autosomal Recessive 9 71
Auditory Neuropathy, Nonsyndromic Recessive 69
Non-Syndromic Recessive Hearing Loss 9 71
Deafness, Autosomal Recessive, 9 71
Autosomal Recessive Deafness 9 12
Nrsd9 12
Nsran 71
Aunb1 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
congenital onset or onset before 2 years (prelingual)
nonsyndromic disorder


HPO:

31
deafness, autosomal recessive 9:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 601071
Disease Ontology 12 DOID:0110535
ICD10 32 H90.3
MeSH 41 D006319
SNOMED-CT via HPO 65 258211005 60700002

Summaries for Deafness, Autosomal Recessive 9

UniProtKB/Swiss-Prot : 71 Auditory neuropathy, autosomal recessive, 1: A form of sensorineural hearing loss with absent or severely abnormal auditory brainstem response, in the presence of normal cochlear outer hair cell function and normal otoacoustic emissions. Auditory neuropathies result from a lesion in the area including the inner hair cells, connections between the inner hair cells and the cochlear branch of the auditory nerve, the auditory nerve itself and auditory pathways of the brainstem. In some cases AUNB1 phenotype can be temperature sensitive. Deafness, autosomal recessive, 9: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.

MalaCards based summary : Deafness, Autosomal Recessive 9, also known as auditory neuropathy, autosomal recessive, 1, is related to otof-related deafness and dysferlinopathy, and has symptoms including sensorineural hearing impairment, absent brainstem auditory responses and absence of acoustic reflex. An important gene associated with Deafness, Autosomal Recessive 9 is OTOF (Otoferlin). Affiliated tissues include brain, and related phenotype is hearing/vestibular/ear.

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually severe to profound, stable hearing loss and has material basis in mutation in the OTOF gene on chromosome 2p23.

Description from OMIM: 601071

Related Diseases for Deafness, Autosomal Recessive 9

Diseases in the Familial Deafness family:

Deafness, Autosomal Dominant 1 Deafness, Autosomal Recessive 1a
Deafness, Autosomal Recessive 2 Deafness, Autosomal Dominant 2a
Deafness, Autosomal Recessive 3 Deafness, Autosomal Dominant 4a
Deafness, Autosomal Recessive 5 Deafness, Autosomal Dominant 6
Deafness, Autosomal Recessive 6 Deafness, Autosomal Recessive 7
Deafness, Autosomal Dominant 5 Deafness, Autosomal Recessive 9
Deafness, Autosomal Recessive 8 Deafness, Autosomal Dominant 10
Deafness, Autosomal Dominant 11 Deafness, Autosomal Dominant 9
Deafness, Autosomal Recessive 12 Deafness, Autosomal Dominant 7
Deafness, Autosomal Dominant 12 Deafness, Autosomal Dominant 3a
Deafness, Autosomal Dominant 13 Deafness, Autosomal Recessive 15
Deafness, Autosomal Recessive 18a Deafness, Autosomal Dominant 15
Deafness, Autosomal Recessive 17 Deafness, Autosomal Recessive 13
Deafness, Autosomal Dominant 17 Deafness, Autosomal Recessive 21
Deafness, Autosomal Recessive 14 Deafness, Autosomal Recessive 16
Deafness, Autosomal Dominant 16 Deafness, Autosomal Recessive 20
Deafness, Autosomal Dominant 20 Deafness, Autosomal Dominant 23
Deafness, Autosomal Recessive 26 Deafness, Autosomal Dominant 25
Deafness, Autosomal Recessive 27 Deafness, Autosomal Dominant 18
Deafness, Autosomal Dominant 24 Deafness, Autosomal Dominant 22
Deafness, Autosomal Dominant 30 Deafness, Autosomal Dominant 36
Deafness, Autosomal Dominant 21 Deafness, Autosomal Recessive 22
Deafness, Autosomal Recessive 31 Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive Deafness, Autosomal Recessive 33
Deafness, Autosomal Dominant 44 Deafness, Autosomal Dominant 52
Deafness, Autosomal Recessive 37 Deafness, Autosomal Dominant 48
Deafness, Autosomal Recessive 38 Deafness, Autosomal Dominant 41
Deafness, Autosomal Recessive 40 Deafness, Autosomal Recessive 39
Deafness, Autosomal Dominant 49 Deafness, Autosomal Dominant 43
Deafness, Autosomal Recessive 35 Deafness, Autosomal Dominant 28
Deafness, Autosomal Dominant 31 Deafness, Autosomal Dominant 47
Deafness, Autosomal Recessive 32 Deafness, Autosomal Recessive 48
Deafness, Autosomal Recessive 23 Deafness, Autosomal Recessive 42
Deafness, Autosomal Recessive 46 Deafness, Autosomal Recessive 53
Deafness, Autosomal Recessive 28 Deafness, Autosomal Recessive 51
Deafness, Autosomal Recessive 47 Deafness, Autosomal Recessive 55
Deafness, Autosomal Dominant 53 Deafness, Autosomal Recessive 62
Deafness, Autosomal Recessive 49 Deafness, Autosomal Recessive 44
Deafness, Autosomal Recessive 66 Deafness, Autosomal Recessive 59
Deafness, Autosomal Recessive 65 Deafness, Autosomal Recessive 67
Deafness, Autosomal Recessive 68 Deafness, Autosomal Recessive 24
Deafness, Autosomal Recessive 63 Deafness, Autosomal Dominant 27
Deafness, Autosomal Recessive 45 Deafness, Autosomal Dominant 59
Deafness, Autosomal Dominant 3b Deafness, Autosomal Dominant 2b
Deafness, Autosomal Recessive 1b Deafness, Autosomal Recessive 71
Deafness, Autosomal Dominant 50 Deafness, Autosomal Recessive 77
Deafness, Autosomal Recessive 25 Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 84a Deafness, Autosomal Recessive 85
Deafness, Autosomal Recessive 91 Deafness, Autosomal Dominant 51
Deafness, Autosomal Recessive 83 Deafness, Autosomal Recessive 74
Deafness, Autosomal Recessive 61 Deafness, Autosomal Recessive 89
Deafness, Autosomal Recessive 29 Deafness, Autosomal Dominant 64
Deafness, Autosomal Dominant 33 Deafness, Autosomal Recessive 96
Deafness, Autosomal Dominant 4b Deafness, Autosomal Recessive 86
Deafness, Autosomal Recessive 98 Deafness, Autosomal Recessive 93
Deafness, Autosomal Recessive 70 Deafness, Autosomal Recessive 84b
Deafness, Autosomal Recessive 18b Deafness, Autosomal Recessive 88
Deafness, Autosomal Recessive 76 Deafness, Autosomal Dominant 56
Deafness, Autosomal Dominant 54 Deafness, Autosomal Dominant 58
Deafness, Autosomal Recessive 101 Deafness, Autosomal Recessive 102
Deafness, Autosomal Recessive 103 Deafness, Autosomal Dominant 65
Deafness, Autosomal Dominant 67 Deafness, Autosomal Dominant 40
Deafness, Autosomal Recessive 104 Deafness, Autosomal Dominant 69
Deafness, Autosomal Recessive 97 Deafness, Autosomal Dominant 68
Deafness, Autosomal Recessive 105 Deafness, Autosomal Dominant 70
Deafness, Autosomal Dominant 66 Deafness, Autosomal Dominant 71
Deafness, Autosomal Dominant 72 Deafness, Autosomal Recessive 106
Deafness, Autosomal Recessive 107 Deafness, Autosomal Recessive 108
Deafness, Autosomal Dominant 73 Nonsyndromic Deafness
Autosomal Dominant Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness 3 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Recessive Nonsyndromic Deafness 86

Diseases related to Deafness, Autosomal Recessive 9 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
# Related Disease Score Top Affiliating Genes
1 otof-related deafness 11.1
2 dysferlinopathy 10.1 MYOF OTOF
3 deafness, autosomal recessive 59 10.1 GJB2 OTOF
4 auditory neuropathy, autosomal dominant, 1 10.1 GJB2 OTOF
5 dfnb1 10.1 GJB2 OTOF
6 deafness, autosomal recessive 16 10.0 GJB2 OTOF
7 deafness, autosomal dominant 6 10.0 GJB2 OTOF
8 autosomal recessive nonsyndromic deafness 10.0 GJB2 OTOF
9 deafness, autosomal recessive 21 10.0 GJB2 TECTA
10 deafness, autosomal dominant 13 9.9 GJB2 OTOF
11 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.9 GJB2 OTOF
12 sensorineural hearing loss 9.8 GJB2 OTOF
13 autosomal dominant non-syndromic sensorineural deafness type dfna 9.8 GJB2 TECTA
14 deafness, autosomal recessive 26 9.7 GJB2 OTOF TECTA
15 deafness, autosomal recessive 2 9.7 GJB2 OTOF TECTA
16 non-syndromic genetic deafness 9.7 GJB2 OTOF TECTA
17 autosomal recessive nonsyndromic deafness 3 9.7 GJB2 OTOF TECTA
18 deafness, autosomal recessive 9.7 GJB2 OTOF
19 auditory system disease 9.7 GJB2 OTOF TECTA
20 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.7 GJB2 OTOF TECTA
21 autosomal dominant nonsyndromic deafness 9.7 GJB2 OTOF TECTA
22 nonsyndromic deafness 9.6 GJB2 OTOF TECTA

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 9:



Diseases related to Deafness, Autosomal Recessive 9

Symptoms & Phenotypes for Deafness, Autosomal Recessive 9

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Ears:
deafness, sensorineural (severe to profound)
no auditory brainstem response (abr)
absence of acoustic middle ear muscle reflexes
u- or bowl-shaped audiogram
normal otoacoustic emissions (oae), indicating intact outer ear hair cell function
more
Neurologic Central Nervous System:
deafness, sensorineural


Clinical features from OMIM:

601071

Human phenotypes related to Deafness, Autosomal Recessive 9:

31
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407
2 absent brainstem auditory responses 31 HP:0004463
3 absence of acoustic reflex 31 HP:0008529

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 9:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.8 GJB2 OTOF TECTA

Drugs & Therapeutics for Deafness, Autosomal Recessive 9

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 9

Genetic Tests for Deafness, Autosomal Recessive 9

Genetic tests related to Deafness, Autosomal Recessive 9:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 9 28 OTOF
2 Auditory Neuropathy, Autosomal Recessive, 1 28

Anatomical Context for Deafness, Autosomal Recessive 9

MalaCards organs/tissues related to Deafness, Autosomal Recessive 9:

38
Brain

Publications for Deafness, Autosomal Recessive 9

Articles related to Deafness, Autosomal Recessive 9:

# Title Authors Year
1
Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan. ( 19250381 )
2009
2
Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness. ( 12127154 )
2002
3
OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9. ( 10903124 )
2000
4
A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness. ( 10192385 )
1999

Variations for Deafness, Autosomal Recessive 9

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 9:

71 (show all 12)
# Symbol AA change Variation ID SNP ID
1 OTOF p.Pro490Gln VAR_032228 rs80356585
2 OTOF p.Ile515Thr VAR_032229 rs80356586
3 OTOF p.Arg794His VAR_032232 rs80356592
4 OTOF p.Leu1011Pro VAR_032234 rs80356596
5 OTOF p.Arg1157Gln VAR_032236 rs56054534
6 OTOF p.Pro1825Ala VAR_032239 rs28937591
7 OTOF p.Arg1939Gln VAR_032241 rs80356605
8 OTOF p.Pro1987Arg VAR_032242 rs80356606
9 OTOF p.Gln255His VAR_046003 rs397515611
10 OTOF p.Ala964Glu VAR_046004 rs201329629
11 OTOF p.Leu1138Pro VAR_046005 rs397515599
12 OTOF p.Phe1795Cys VAR_046008 rs397515606

ClinVar genetic disease variations for Deafness, Autosomal Recessive 9:

6 (show top 50) (show all 81)
# Gene Variation Type Significance SNP ID Assembly Location
1 OTOF NM_194248.2(OTOF): c.1469C> A (p.Pro490Gln) single nucleotide variant Pathogenic rs80356585 GRCh37 Chromosome 2, 26705384: 26705384
2 OTOF NM_194248.2(OTOF): c.1651delG (p.Glu551Serfs) deletion Pathogenic rs80356587 GRCh37 Chromosome 2, 26703806: 26703806
3 OTOF NM_194248.2(OTOF): c.1886dupA (p.Pro630Alafs) duplication Pathogenic rs80356588 GRCh37 Chromosome 2, 26703097: 26703097
4 OTOF NM_194248.2(OTOF): c.2122C> T (p.Arg708Ter) single nucleotide variant Pathogenic rs80356590 GRCh37 Chromosome 2, 26702224: 26702224
5 OTOF NM_194248.2(OTOF): c.2214+1G> T single nucleotide variant Pathogenic rs80356589 GRCh37 Chromosome 2, 26702131: 26702131
6 OTOF NM_194248.2(OTOF): c.2348delG (p.Gly783Alafs) deletion Pathogenic rs80356591 GRCh37 Chromosome 2, 26700342: 26700342
7 OTOF NM_194248.2(OTOF): c.2887C> T (p.Arg963Ter) single nucleotide variant Pathogenic rs80356595 GRCh37 Chromosome 2, 26698886: 26698886
8 OTOF NM_194248.2(OTOF): c.2991+1G> A single nucleotide variant Pathogenic rs80356594 GRCh37 Chromosome 2, 26698781: 26698781
9 OTOF NM_194248.2(OTOF): c.3571-2A> C single nucleotide variant Pathogenic rs80356597 GRCh37 Chromosome 2, 26696164: 26696164
10 OTOF NM_194248.2(OTOF): c.4275G> A (p.Trp1425Ter) single nucleotide variant Pathogenic rs80356598 GRCh37 Chromosome 2, 26690054: 26690054
11 OTOF NM_194248.2(OTOF): c.4500+2T> G single nucleotide variant Pathogenic rs80356599 GRCh37 Chromosome 2, 26689580: 26689580
12 OTOF NM_194248.2(OTOF): c.4559G> A (p.Arg1520Gln) single nucleotide variant Pathogenic rs80356601 GRCh37 Chromosome 2, 26688886: 26688886
13 OTOF NM_194248.2(OTOF): c.5712+1G> A single nucleotide variant Pathogenic rs80356604 GRCh37 Chromosome 2, 26683719: 26683719
14 OTOF NM_194248.1: c.5860_5862delATC deletion Pathogenic
15 OTOF NM_194248.2(OTOF): c.5960C> G (p.Pro1987Arg) single nucleotide variant Pathogenic rs80356606 GRCh37 Chromosome 2, 26682927: 26682927
16 OTOF NM_194248.2(OTOF): c.1621G> A (p.Gly541Ser) single nucleotide variant Pathogenic rs397515435 GRCh37 Chromosome 2, 26703836: 26703836
17 OTOF NM_194248.2(OTOF): c.4718T> C (p.Ile1573Thr) single nucleotide variant Likely pathogenic rs111033405 GRCh37 Chromosome 2, 26688621: 26688621
18 OTOF NM_194248.2(OTOF): c.5098G> C (p.Glu1700Gln) single nucleotide variant Pathogenic/Likely pathogenic rs199766465 GRCh37 Chromosome 2, 26686837: 26686837
19 OTOF NM_194248.2(OTOF): c.5193-1G> A single nucleotide variant Likely pathogenic rs111033373 GRCh37 Chromosome 2, 26685050: 26685050
20 OTOF NM_194248.2(OTOF): c.1103_1104delGGinsC (p.Gly368Alafs) indel Pathogenic rs397515579 GRCh37 Chromosome 2, 26707443: 26707444
21 OTOF NM_194248.2(OTOF): c.1180dupG (p.Glu394Glyfs) duplication Pathogenic rs397515580 GRCh37 Chromosome 2, 26707367: 26707367
22 OTOF NM_194248.2(OTOF): c.1236delC (p.Glu413Asnfs) deletion Pathogenic rs397515581 GRCh37 Chromosome 2, 26706486: 26706486
23 OTOF NM_194248.2(OTOF): c.1273C> T (p.Arg425Ter) single nucleotide variant Pathogenic rs397515582 GRCh37 Chromosome 2, 26706449: 26706449
24 OTOF NM_194248.1: c.1552-1567del16 deletion Pathogenic
25 OTOF NM_194248.2(OTOF): c.1601delC (p.Pro534Glnfs) deletion Pathogenic rs397515583 GRCh37 Chromosome 2, 26703856: 26703856
26 OTOF NM_194248.2(OTOF): c.1607G> A (p.Trp536Ter) single nucleotide variant Pathogenic rs397515584 GRCh37 Chromosome 2, 26703850: 26703850
27 OTOF NM_194248.2(OTOF): c.1609delG (p.Val537Terfs) deletion Pathogenic rs397515585 GRCh37 Chromosome 2, 26703848: 26703848
28 OTOF NM_194248.2(OTOF): c.1718T> G (p.Leu573Arg) single nucleotide variant Pathogenic rs397515586 GRCh37 Chromosome 2, 26703739: 26703739
29 OTOF NM_194248.2(OTOF): c.1740delC (p.Ser581Profs) deletion Pathogenic rs397515587 GRCh37 Chromosome 2, 26703717: 26703717
30 OTOF NM_194248.2(OTOF): c.1780G> A (p.Glu594Lys) single nucleotide variant Pathogenic rs397515588 GRCh37 Chromosome 2, 26703677: 26703677
31 OTOF NM_194248.2(OTOF): c.1841G> A (p.Gly614Glu) single nucleotide variant Pathogenic rs397515589 GRCh37 Chromosome 2, 26703142: 26703142
32 OTOF NM_194248.1: c.1912-2C> T single nucleotide variant Pathogenic
33 OTOF NM_194248.2(OTOF): c.1966delC (p.Arg656Glyfs) deletion Pathogenic rs397515590 GRCh37 Chromosome 2, 26702468: 26702468
34 OTOF NM_194248.2(OTOF): c.2239G> T (p.Glu747Ter) single nucleotide variant Pathogenic rs397515591 GRCh37 Chromosome 2, 26700593: 26700593
35 OTOF NM_194248.1: c.2295_2297delG deletion Pathogenic
36 OTOF NM_194248.2(OTOF): c.2316C> A (p.Cys772Ter) single nucleotide variant Pathogenic rs397515592 GRCh37 Chromosome 2, 26700374: 26700374
37 OTOF NM_194248.2(OTOF): c.2649C> A (p.Cys883Ter) single nucleotide variant Pathogenic rs397515593 GRCh37 Chromosome 2, 26699786: 26699786
38 OTOF NM_194248.2(OTOF): c.2684_2685delGG (p.Gly895Glufs) deletion Pathogenic rs397515594 GRCh37 Chromosome 2, 26699177: 26699178
39 OTOF NM_194248.2(OTOF): c.2732_2735dupAGCT (p.Tyr913Alafs) duplication Pathogenic rs397515595 GRCh37 Chromosome 2, 26699127: 26699130
40 OTOF NM_194248.2(OTOF): c.2891C> A (p.Ala964Glu) single nucleotide variant Pathogenic rs201329629 GRCh37 Chromosome 2, 26698882: 26698882
41 OTOF NM_194248.2(OTOF): c.2905_2923del19insCTCCGAGCGCA (p.Ala969Leufs) indel Pathogenic rs397515596 GRCh37 Chromosome 2, 26698850: 26698868
42 OTOF NM_194248.2(OTOF): c.3239G> C (p.Arg1080Pro) single nucleotide variant Pathogenic rs397515598 GRCh37 Chromosome 2, 26697430: 26697430
43 OTOF NM_194248.2(OTOF): c.3269C> A (p.Ala1090Glu) single nucleotide variant Pathogenic rs370609551 GRCh37 Chromosome 2, 26697400: 26697400
44 OTOF NM_194248.2(OTOF): c.3400C> T (p.Arg1134Ter) single nucleotide variant Pathogenic rs199848801 GRCh37 Chromosome 2, 26696867: 26696867
45 OTOF NM_194248.2(OTOF): c.3413T> C (p.Leu1138Pro) single nucleotide variant Pathogenic rs397515599 GRCh37 Chromosome 2, 26696431: 26696431
46 OTOF NM_194248.1: c.3704-3720delACCGCTCGGCCCCCAG deletion Pathogenic
47 OTOF NM_194248.2(OTOF): c.4157C> T (p.Thr1386Ile) single nucleotide variant Pathogenic rs397515600 GRCh37 Chromosome 2, 26690303: 26690303
48 OTOF NM_194248.2(OTOF): c.4227+1G> T single nucleotide variant Pathogenic rs397515601 GRCh37 Chromosome 2, 26690232: 26690232
49 OTOF NM_194248.2(OTOF): c.4351G> T (p.Gly1451Ter) single nucleotide variant Pathogenic rs397515602 GRCh37 Chromosome 2, 26689978: 26689978
50 OTOF NM_194248.2(OTOF): c.4483C> T (p.Arg1495Ter) single nucleotide variant Pathogenic rs147321712 GRCh37 Chromosome 2, 26689599: 26689599

Expression for Deafness, Autosomal Recessive 9

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 9.

Pathways for Deafness, Autosomal Recessive 9

GO Terms for Deafness, Autosomal Recessive 9

Cellular components related to Deafness, Autosomal Recessive 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 8.8 CTBP2 GJB2 OTOF

Biological processes related to Deafness, Autosomal Recessive 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 8.8 GJB2 OTOF TECTA

Sources for Deafness, Autosomal Recessive 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....