Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Datasets Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
DFNB98
MCID: DFN269
MIFTS: 35

Deafness, Autosomal Recessive 98 (DFNB98)

Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
Sources

Aliases & Classifications for Deafness, Autosomal Recessive 98

About this section

MalaCards integrated aliases for Deafness, Autosomal Recessive 98:

Name: Deafness, Autosomal Recessive 98 56 29 13 6 71
Dfnb98 56 12 73
Autosomal Recessive Nonsyndromic Deafness 98 12 15
Deafness, Autosomal Recessive, Type 98 39
Deafness, Autosomal Recessive, 98 73
Autosomal Recessive Deafness 98 12

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
prelingual onset


HPO:

31
deafness, autosomal recessive 98:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Ear diseases Neuronal diseases Blood diseases Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:0110540
OMIM 56 614861
OMIM Phenotypic Series 56 PS220290
MeSH 43 D006319
ICD10 32 H90.3
SNOMED-CT via HPO 68 258211005 60700002
UMLS 71 C3553932
Sources

Summaries for Deafness, Autosomal Recessive 98

About this section
UniProtKB/Swiss-Prot : 73 Deafness, autosomal recessive, 98: A form of non-syndromic sensorineural hearing loss with prelingual onset. 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 98, also known as dfnb98, is related to deafness, autosomal recessive 8 and autosomal recessive non-syndromic sensorineural deafness type dfnb. An important gene associated with Deafness, Autosomal Recessive 98 is TSPEAR (Thrombospondin Type Laminin G Domain And EAR Repeats), and among its related pathways/superpathways are Cardiac conduction and Dopamine-DARPP32 Feedback onto cAMP Pathway. Affiliated tissues include brain, and related phenotypes are sensorineural hearing impairment and hearing/vestibular/ear

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that has material basis in mutation in the TSPEAR gene on chromosome 21q22.

OMIM : 56 This form of autosomal recessive nonsyndromic deafness is sensorineural and shows prelingual onset (Delmaghani et al., 2012). (614861)

Sources

Related Diseases for Deafness, Autosomal Recessive 98

About this section

Diseases in the Rare 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 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 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 Deafness, Autosomal Recessive 57
Deafness, Autosomal Recessive 109 Deafness, Autosomal Recessive 110
Deafness, Autosomal Dominant 74 Deafness, Autosomal Recessive 111
Deafness, Autosomal Recessive 112 Deafness, Autosomal Recessive 113
Deafness, Autosomal Recessive 100 Deafness, Autosomal Recessive 94
Deafness, Autosomal Recessive 114 Deafness, Autosomal Recessive 115
Deafness, Autosomal Recessive 99 Deafness, Autosomal Dominant 37
Deafness, Autosomal Dominant 75 Deafness, Autosomal Dominant 76
Deafness, Autosomal Dominant 77 Autosomal Dominant Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness 106
Autosomal Recessive Nonsyndromic Deafness 107 Autosomal Recessive Nonsyndromic Deafness 108
Autosomal Dominant Nonsyndromic Deafness 71 Autosomal Dominant Nonsyndromic Deafness 72
Autosomal Dominant Nonsyndromic Deafness 73 Autosomal Dominant Nonsyndromic Deafness 34
Autosomal Recessive Nonsyndromic Deafness 3 Autosomal Recessive Nonsyndromic Deafness 32
Autosomal Recessive Nonsyndromic Deafness 36 Nonsyndromic Deafness
Otof-Related Deafness Familial Deafness

Diseases related to Deafness, Autosomal Recessive 98 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 8 30.7 TSPEAR TMPRSS4 TMPRSS3
2 autosomal recessive non-syndromic sensorineural deafness type dfnb 30.5 TSPEAR TMPRSS3 CLDN14
3 petroclival meningioma 10.3 TMPRSS4 TMPRSS3
4 deafness, autosomal dominant 7 10.3 TMPRSS4 TMPRSS3
5 deafness, autosomal recessive 83 10.3 TMPRSS4 TMPRSS3
6 deafness, autosomal recessive 39 10.2 TMPRSS3 CLDN14
7 epilepsy, familial temporal lobe, 3 10.2 LGI2 LGI1
8 branchiootic syndrome 1 10.2
9 deafness, autosomal recessive 10.2
10 audiogenic seizures 10.2
11 deafness, autosomal recessive 6 10.2 TMPRSS3 ADGRV1
12 deafness, autosomal recessive 29 10.2 TSPEAR CLDN14
13 usher syndrome, type iiib 10.1 EPRS1 ADGRV1
14 vestibular disease 10.0 TMPRSS3 KCNE3 KCNE1
15 hereditary hearing loss and deafness 10.0 KCNE1 CLDN14
16 autosomal dominant nonsyndromic deafness 9.9 TMPRSS4 TMPRSS3 KCNE1 ADGRV1
17 epilepsy, familial temporal lobe, 1 9.8 LGI2 LGI1 EPRS1 ADGRV1
18 long qt syndrome 14 9.8 KCNQ1 KCNE1
19 auditory system disease 9.7 TMPRSS4 TMPRSS3 EPRS1 CLDN14 ADGRV1
20 cardiac arrhythmia 9.7 KCNQ1 KCNE2
21 hypokalemic periodic paralysis, type 1 9.7 KCNE5 KCNE4 KCNE3 KCNE1
22 peripheral vertigo 9.7 KCNE3 KCNE1
23 rare genetic deafness 9.6 TMPRSS3 KCNQ1 ADGRV1
24 familial long qt syndrome 9.5 KCNQ1 KCNE2 KCNE1
25 long qt syndrome 13 9.5 KCNQ1 KCNE2 KCNE1
26 long qt syndrome 12 9.5 KCNQ1 KCNE2 KCNE1
27 long qt syndrome 10 9.5 KCNQ1 KCNE2 KCNE1
28 long qt syndrome 6 9.5 KCNQ1 KCNE2 KCNE1
29 long qt syndrome 11 9.5 KCNQ1 KCNE2 KCNE1
30 ventricular fibrillation, paroxysmal familial, 1 9.5 KCNQ1 KCNE2 KCNE1
31 long qt syndrome 9 9.5 KCNQ1 KCNE2 KCNE1
32 long qt syndrome 3 9.5 KCNQ1 KCNE2 KCNE1
33 cardiac arrhythmia, ankyrin-b-related 9.5 KCNQ1 KCNE2 KCNE1
34 timothy syndrome 9.5 KCNQ1 KCNE2 KCNE1
35 sinoatrial node disease 9.5 KCNQ1 KCNE2
36 myasthenic syndrome, congenital, 5 9.5 KCNQ1 KCNE2 KCNE1
37 atrioventricular block 9.5 KCNQ1 KCNE2 KCNE1
38 wolff-parkinson-white syndrome 9.5 KCNQ1 KCNE2 KCNE1
39 intrinsic cardiomyopathy 9.2 KCNQ1 KCNE2 KCNE1 EPRS1
40 andersen cardiodysrhythmic periodic paralysis 9.2 KCNQ1 KCNE3 KCNE2 KCNE1
41 long qt syndrome 2 9.2 KCNQ1 KCNE3 KCNE2 KCNE1
42 heart conduction disease 9.2 KCNQ1 KCNE3 KCNE2 KCNE1
43 catecholaminergic polymorphic ventricular tachycardia 9.2 KCNQ1 KCNE3 KCNE2 KCNE1
44 long qt syndrome 5 9.0 KCNQ1 KCNE5 KCNE3 KCNE2 KCNE1
45 long qt syndrome 9.0 KCNQ1 KCNE5 KCNE3 KCNE2 KCNE1
46 sensorineural hearing loss 8.9 TSPEAR TMPRSS3 KCNQ1 KCNE5 KCNE1 CLDN14
47 jervell and lange-nielsen syndrome 1 8.7 KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
48 short qt syndrome 8.7 KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
49 long qt syndrome 1 8.7 KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
50 familial atrial fibrillation 8.7 KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 98:



Diseases related to Deafness, Autosomal Recessive 98
Sources

Symptoms & Phenotypes for Deafness, Autosomal Recessive 98

About this section

Human phenotypes related to Deafness, Autosomal Recessive 98:

31
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
sensorineural deafness, profound
no auditory brainstem response to 100-db stimulus
transient evoked otoacoustic emissions cannot be detected

Clinical features from OMIM:

614861

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 98:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.02 ADGRV1 CLDN14 KCNE3 KCNQ1 TMPRSS3
Sources

Drugs & Therapeutics for Deafness, Autosomal Recessive 98

About this section

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 98

Sources

Genetic Tests for Deafness, Autosomal Recessive 98

About this section

Genetic tests related to Deafness, Autosomal Recessive 98:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 98 29 TSPEAR
Sources

Anatomical Context for Deafness, Autosomal Recessive 98

About this section

MalaCards organs/tissues related to Deafness, Autosomal Recessive 98:

40
Brain
Sources

Publications for Deafness, Autosomal Recessive 98

About this section

Articles related to Deafness, Autosomal Recessive 98:

# Title Authors PMID Year
1
Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness. 61 6 56
22678063 2012
2
Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis. 6
27736875 2016
3
Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis. 61
30046887 2018
Sources

Variations for Deafness, Autosomal Recessive 98

About this section

ClinVar genetic disease variations for Deafness, Autosomal Recessive 98:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TSPEAR NM_144991.3(TSPEAR):c.1728del (p.Lys577fs)deletion Pathogenic 37311 rs782540538 21:45929108-45929108 21:44509225-44509225
2 TSPEAR NM_144991.3(TSPEAR):c.1675T>C (p.Tyr559His)SNV not provided 684487 21:45929161-45929161 21:44509278-44509278
Sources

Expression for Deafness, Autosomal Recessive 98

About this section
Search GEO for disease gene expression data for Deafness, Autosomal Recessive 98.
Sources

Pathways for Deafness, Autosomal Recessive 98

About this section

Pathways related to Deafness, Autosomal Recessive 98 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Cardiac conduction 65
Show member pathways
 12.46 KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
2
Dopamine-DARPP32 Feedback onto cAMP Pathway 63
11.91 KCNQ1 KCNE4 KCNE3 KCNE2 KCNE1
3
Phase 0 - rapid depolarisation 65
Show member pathways
 11.31 KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
4
Antiarrhythmic Pathway, Pharmacodynamics 60
10.85 KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
5
TarBasePathway 1
10.65 KCNQ1 KCNE1
6
LGI-ADAM interactions 65
10.5 LGI2 LGI1
Sources

GO Terms for Deafness, Autosomal Recessive 98

About this section

Cellular components related to Deafness, Autosomal Recessive 98 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.7 TMPRSS4 TMPRSS3 LGR5 KCNQ1 KCNE5 KCNE4
2 voltage-gated potassium channel complex GO:0008076 9.1 KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1

Biological processes related to Deafness, Autosomal Recessive 98 according to GeneCards Suite gene sharing:

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 10.05 KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
2 regulation of ion transmembrane transport GO:0034765 9.91 KCNQ1 KCNE4 KCNE3 KCNE2 KCNE1
3 sensory perception of sound GO:0007605 9.89 TSPEAR TMPRSS3 KCNQ1 KCNE1 ADGRV1
4 potassium ion transport GO:0006813 9.85 KCNQ1 KCNE4 KCNE3 KCNE2 KCNE1
5 regulation of heart rate by cardiac conduction GO:0086091 9.85 KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
6 potassium ion transmembrane transport GO:0071805 9.83 KCNQ1 KCNE4 KCNE3 KCNE2 KCNE1
7 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.8 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
8 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.8 KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
9 inner ear development GO:0048839 9.77 LGR5 KCNQ1 ADGRV1
10 cardiac conduction GO:0061337 9.76 KCNQ1 KCNE2 KCNE1
11 regulation of potassium ion transmembrane transport GO:1901379 9.73 KCNE5 KCNE2 KCNE1
12 ventricular cardiac muscle cell action potential GO:0086005 9.73 KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
13 positive regulation of potassium ion transmembrane transport GO:1901381 9.72 KCNQ1 KCNE5 KCNE1
14 membrane repolarization GO:0086009 9.71 KCNQ1 KCNE2 KCNE1
15 regulation of membrane repolarization GO:0060306 9.7 KCNQ1 KCNE5 KCNE2
16 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.65 KCNQ1 KCNE5 KCNE1
17 cardiac muscle cell action potential involved in contraction GO:0086002 9.63 KCNE2 KCNE1
18 potassium ion export across plasma membrane GO:0097623 9.63 KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
19 positive regulation of voltage-gated calcium channel activity GO:1901387 9.62 KCNE3 KCNE2
20 atrial cardiac muscle cell action potential GO:0086014 9.62 KCNQ1 KCNE5
21 regulation of delayed rectifier potassium channel activity GO:1902259 9.61 KCNE2 KCNE1
22 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.61 KCNQ1 KCNE5
23 negative regulation of voltage-gated potassium channel activity GO:1903817 9.59 KCNE3 KCNE2
24 negative regulation of potassium ion export across plasma membrane GO:1903765 9.57 KCNE5 KCNE3
25 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.43 KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
26 membrane repolarization during action potential GO:0086011 9.1 KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1

Molecular functions related to Deafness, Autosomal Recessive 98 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.83 KCNQ1 KCNE4 KCNE3 KCNE2 KCNE1
2 ion channel binding GO:0044325 9.8 KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
3 potassium channel activity GO:0005267 9.77 KCNQ1 KCNE4 KCNE3 KCNE2 KCNE1
4 potassium channel regulator activity GO:0015459 9.65 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
5 voltage-gated potassium channel activity GO:0005249 9.63 KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
6 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.58 KCNQ1 KCNE5 KCNE1
7 delayed rectifier potassium channel activity GO:0005251 9.43 KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
8 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.1 KCNQ1 KCNE5 KCNE4 KCNE3 KCNE2 KCNE1
Sources

Sources for Deafness, Autosomal Recessive 98

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....