DFNB44
MCID: DFN174
MIFTS: 41

Deafness, Autosomal Recessive 44 (DFNB44)

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

Aliases & Classifications for Deafness, Autosomal Recessive 44

MalaCards integrated aliases for Deafness, Autosomal Recessive 44:

Name: Deafness, Autosomal Recessive 44 57 29 13 6 73
Dfnb44 57 12 75
Autosomal Recessive Nonsyndromic Deafness 44 12 15
Deafness, Autosomal Recessive, Type 44 40
Deafness, Autosomal Recessive, 44 75
Autosomal Recessive Deafness 44 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
one consanguineous pakistani reported (last curated july 2015)


HPO:

32
deafness, autosomal recessive 44:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 610154
Disease Ontology 12 DOID:0110501
ICD10 33 H90.3
MedGen 42 C1857809
MeSH 44 D006319
SNOMED-CT via HPO 69 258211005
UMLS 73 C1857809

Summaries for Deafness, Autosomal Recessive 44

UniProtKB/Swiss-Prot : 75 Deafness, autosomal recessive, 44: A form of non-syndromic deafness characterized by prelingual profound hearing loss affecting all frequencies.

MalaCards based summary : Deafness, Autosomal Recessive 44, also known as dfnb44, is related to long qt syndrome 1 and long qt syndrome 15. An important gene associated with Deafness, Autosomal Recessive 44 is ADCY1 (Adenylate Cyclase 1), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Activation of cAMP-Dependent PKA. Related phenotypes are prelingual sensorineural hearing impairment and Decreased Hepatitis C Virus pseudoparticles (HCVpp; H77; genotype 1a) infection

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that has material basis in mutation in the ADCY1 gene on chromosome 7p12.

Description from OMIM: 610154

Related Diseases for Deafness, Autosomal Recessive 44

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 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
Nonsyndromic Deafness 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 105 Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 32 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Recessive Nonsyndromic Deafness 86 Otof-Related Deafness

Diseases related to Deafness, Autosomal Recessive 44 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 long qt syndrome 1 9.7 CALM1 CALM2 CALM3
2 long qt syndrome 15 9.7 CALM1 CALM2 CALM3
3 long qt syndrome 9.7 CALM1 CALM2 CALM3
4 otomycosis 9.7 CALM1 CALM2 CALM3
5 external ear disease 9.7 CALM1 CALM2 CALM3
6 emery-dreifuss muscular dystrophy 5, autosomal dominant 9.7 CALM1 CALM2 CALM3
7 sporotrichosis 9.7 CALM1 CALM2 CALM3
8 otitis externa 9.7 CALM1 CALM2 CALM3
9 spontaneous ocular nystagmus 9.7 CALM1 CALM2 CALM3
10 acute dacryocystitis 9.7 CALM1 CALM2 CALM3
11 dystonia 24 9.7 CALM1 CALM2 CALM3
12 gestational choriocarcinoma 9.7 CALM1 CALM2 CALM3
13 triosephosphate isomerase deficiency 9.7 CALM1 CALM2 CALM3
14 leber congenital amaurosis 2 9.7 CALM1 CALM2 CALM3
15 tinea unguium 9.7 CALM1 CALM2 CALM3
16 primary systemic mycosis 9.7 CALM1 CALM2 CALM3
17 clear cell acanthoma 9.6 CALM1 CALM2 CALM3
18 cardiomyopathy, dilated, 1a 9.6 CALM1 CALM2 CALM3
19 cardiomyopathy, dilated, 1p 9.6 CALM1 CALM2 CALM3
20 phaeohyphomycosis 9.6 CALM1 CALM2 CALM3
21 deafness, autosomal dominant 2a 9.6 CALM1 CALM2 CALM3
22 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 9.6 CALM1 CALM2 CALM3
23 ceroid lipofuscinosis, neuronal, 11 9.6 CALM1 CALM2 CALM3
24 primary cutaneous amyloidosis 9.6 CALM1 CALM2 CALM3
25 catecholaminergic polymorphic ventricular tachycardia 9.5 CALM1 CALM2 CALM3
26 cardiac arrest 9.4 CALM1 CALM2 CALM3

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 44:



Diseases related to Deafness, Autosomal Recessive 44

Symptoms & Phenotypes for Deafness, Autosomal Recessive 44

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
deafness, prelingual, profound (affects all frequencies)


Clinical features from OMIM:

610154

Human phenotypes related to Deafness, Autosomal Recessive 44:

32
# Description HPO Frequency HPO Source Accession
1 prelingual sensorineural hearing impairment 32 HP:0000399

GenomeRNAi Phenotypes related to Deafness, Autosomal Recessive 44 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased Hepatitis C Virus pseudoparticles (HCVpp; H77; genotype 1a) infection GR00234-A-1 8.96 CALM2 CALM3
2 Reduced mammosphere formation GR00396-S 8.92 CALM1 CALM2 CALM3 YARS

Drugs & Therapeutics for Deafness, Autosomal Recessive 44

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 44

Genetic Tests for Deafness, Autosomal Recessive 44

Genetic tests related to Deafness, Autosomal Recessive 44:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 44 29 ADCY1

Anatomical Context for Deafness, Autosomal Recessive 44

Publications for Deafness, Autosomal Recessive 44

Variations for Deafness, Autosomal Recessive 44

ClinVar genetic disease variations for Deafness, Autosomal Recessive 44:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ADCY1 NM_021116.3(ADCY1): c.3112C> T (p.Arg1038Ter) single nucleotide variant Pathogenic rs587777497 GRCh37 Chromosome 7, 45753346: 45753346
2 ADCY1 NM_021116.3(ADCY1): c.3112C> T (p.Arg1038Ter) single nucleotide variant Pathogenic rs587777497 GRCh38 Chromosome 7, 45713747: 45713747

Expression for Deafness, Autosomal Recessive 44

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 44.

Pathways for Deafness, Autosomal Recessive 44

Pathways related to Deafness, Autosomal Recessive 44 according to GeneCards Suite gene sharing:

(show top 50) (show all 123)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.35 ADCY1 CALM1 CALM2 CALM3
2
Show member pathways
13.35 ADCY1 CALM1 CALM2 CALM3
3
Show member pathways
13.23 ADCY1 CALM1 CALM2 CALM3
4
Show member pathways
13.22 ADCY1 CALM1 CALM2 CALM3
5
Show member pathways
13.16 ADCY1 CALM1 CALM2 CALM3
6
Show member pathways
13.13 ADCY1 CALM1 CALM2 CALM3
7
Show member pathways
13.06 ADCY1 CALM1 CALM2 CALM3
8
Show member pathways
12.97 ADCY1 CALM1 CALM2 CALM3
9
Show member pathways
12.95 ADCY1 CALM1 CALM2 CALM3
10
Show member pathways
12.94 ADCY1 CALM1 CALM2 CALM3
11
Show member pathways
12.94 ADCY1 CALM1 CALM2 CALM3
12
Show member pathways
12.92 ADCY1 CALM1 CALM2 CALM3
13
Show member pathways
12.91 ADCY1 CALM1 CALM2 CALM3
14
Show member pathways
12.9 ADCY1 CALM1 CALM2 CALM3
15
Show member pathways
12.89 ADCY1 CALM1 CALM2 CALM3
16
Show member pathways
12.81 ADCY1 CALM1 CALM2 CALM3
17
Show member pathways
12.78 ADCY1 CALM1 CALM2 CALM3
18
Show member pathways
12.76 ADCY1 CALM1 CALM2 CALM3
19
Show member pathways
12.75 CALM1 CALM2 CALM3
20
Show member pathways
12.74 CALM1 CALM2 CALM3
21 12.74 ADCY1 CALM1 CALM2 CALM3
22
Show member pathways
12.73 CALM1 CALM2 CALM3
23
Show member pathways
12.72 CALM1 CALM2 CALM3
24
Show member pathways
12.71 CALM1 CALM2 CALM3
25
Show member pathways
12.7 CALM1 CALM2 CALM3
26
Show member pathways
12.69 CALM1 CALM2 CALM3
27
Show member pathways
12.68 ADCY1 CALM1 CALM2 CALM3
28
Show member pathways
12.67 ADCY1 CALM1 CALM2 CALM3
29
Show member pathways
12.63 ADCY1 CALM1 CALM2 CALM3
30
Show member pathways
12.63 ADCY1 CALM1 CALM2 CALM3
31
Show member pathways
12.61 CALM1 CALM2 CALM3
32
Show member pathways
12.59 CALM1 CALM2 CALM3
33
Show member pathways
12.58 CALM1 CALM2 CALM3
34
Show member pathways
12.57 ADCY1 CALM1 CALM2 CALM3
35
Show member pathways
12.57 ADCY1 CALM1 CALM2 CALM3
36
Show member pathways
12.56 CALM1 CALM2 CALM3
37
Show member pathways
12.54 CALM1 CALM2 CALM3
38
Show member pathways
12.52 CALM1 CALM2 CALM3
39
Show member pathways
12.5 CALM1 CALM2 CALM3
40
Show member pathways
12.49 CALM1 CALM2 CALM3
41
Show member pathways
12.46 ADCY1 CALM1 CALM2 CALM3
42
Show member pathways
12.45 CALM1 CALM2 CALM3
43
Show member pathways
12.44 ADCY1 CALM1 CALM2 CALM3
44
Show member pathways
12.43 CALM1 CALM2 CALM3
45
Show member pathways
12.42 ADCY1 CALM1 CALM2 CALM3
46
Show member pathways
12.41 CALM1 CALM2 CALM3
47
Show member pathways
12.36 CALM1 CALM2 CALM3
48
Show member pathways
12.34 CALM1 CALM2 CALM3
49
Show member pathways
12.34 CALM1 CALM2 CALM3
50
Show member pathways
12.33 ADCY1 CALM1 CALM2 CALM3

GO Terms for Deafness, Autosomal Recessive 44

Cellular components related to Deafness, Autosomal Recessive 44 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 intracellular GO:0005622 9.76 ADCY1 CALM1 CALM2 CALM3
2 protein-containing complex GO:0032991 9.7 CALM1 CALM2 CALM3
3 centrosome GO:0005813 9.65 CALM1 CALM2 CALM3
4 spindle GO:0005819 9.61 CALM1 CALM2 CALM3
5 vesicle GO:0031982 9.58 CALM1 CALM2 CALM3
6 myelin sheath GO:0043209 9.54 CALM1 CALM2 CALM3
7 voltage-gated potassium channel complex GO:0008076 9.51 CALM2 CALM3
8 spindle pole GO:0000922 9.5 CALM1 CALM2 CALM3
9 synaptic vesicle membrane GO:0030672 9.49 CALM1 CALM3
10 sarcomere GO:0030017 9.43 CALM1 CALM2 CALM3
11 spindle microtubule GO:0005876 9.33 CALM1 CALM2 CALM3
12 calcium channel complex GO:0034704 9.13 CALM1 CALM2 CALM3
13 catalytic complex GO:1902494 8.8 CALM1 CALM2 CALM3

Biological processes related to Deafness, Autosomal Recessive 44 according to GeneCards Suite gene sharing:

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor signaling pathway GO:0007186 9.96 ADCY1 CALM1 CALM2 CALM3
2 calcium-mediated signaling GO:0019722 9.78 CALM1 CALM2 CALM3
3 response to calcium ion GO:0051592 9.77 CALM1 CALM2 CALM3
4 regulation of synaptic vesicle exocytosis GO:2000300 9.77 ADCY1 CALM1 CALM3
5 positive regulation of protein serine/threonine kinase activity GO:0071902 9.76 CALM1 CALM2 CALM3
6 substantia nigra development GO:0021762 9.74 CALM1 CALM2 CALM3
7 regulation of cytokinesis GO:0032465 9.73 CALM1 CALM2 CALM3
8 regulation of heart rate GO:0002027 9.72 CALM1 CALM2 CALM3
9 positive regulation of peptidyl-threonine phosphorylation GO:0010800 9.71 CALM1 CALM2 CALM3
10 positive regulation of protein dephosphorylation GO:0035307 9.7 CALM1 CALM2 CALM3
11 positive regulation of protein autophosphorylation GO:0031954 9.69 CALM1 CALM2 CALM3
12 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.67 CALM1 CALM2 CALM3
13 response to amphetamine GO:0001975 9.65 CALM1 CALM3
14 activation of adenylate cyclase activity GO:0007190 9.65 CALM1 CALM3
15 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.65 CALM1 CALM2 CALM3
16 positive regulation of DNA binding GO:0043388 9.64 CALM2 CALM3
17 positive regulation of nitric-oxide synthase activity GO:0051000 9.64 CALM1 CALM3
18 response to corticosterone GO:0051412 9.63 CALM1 CALM3
19 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.63 CALM1 CALM3
20 regulation of cardiac muscle contraction GO:0055117 9.63 CALM1 CALM2 CALM3
21 regulation of synaptic vesicle endocytosis GO:1900242 9.62 CALM1 CALM3
22 establishment of protein localization to membrane GO:0090150 9.62 CALM1 CALM3
23 regulation of high voltage-gated calcium channel activity GO:1901841 9.61 CALM1 CALM3
24 negative regulation of peptidyl-threonine phosphorylation GO:0010801 9.61 CALM1 CALM2 CALM3
25 establishment of protein localization to mitochondrial membrane GO:0090151 9.58 CALM1 CALM3
26 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.58 CALM1 CALM2 CALM3
27 detection of calcium ion GO:0005513 9.54 CALM1 CALM2 CALM3
28 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.5 CALM1 CALM2 CALM3
29 positive regulation of ryanodine-sensitive calcium-release channel activity GO:0060316 9.43 CALM1 CALM2 CALM3
30 regulation of cell communication by electrical coupling involved in cardiac conduction GO:1901844 9.33 CALM1 CALM2 CALM3
31 positive regulation of cyclic-nucleotide phosphodiesterase activity GO:0051343 9.13 CALM1 CALM2 CALM3
32 positive regulation by host of symbiont cAMP-mediated signal transduction GO:0075206 8.8 CALM1 CALM2 CALM3

Molecular functions related to Deafness, Autosomal Recessive 44 according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 9.76 CALM1 CALM2 CALM3
2 protein kinase binding GO:0019901 9.74 CALM1 CALM2 CALM3
3 protein domain specific binding GO:0019904 9.72 CALM1 CALM2 CALM3
4 ion channel binding GO:0044325 9.63 CALM1 CALM2 CALM3
5 protein N-terminus binding GO:0047485 9.58 CALM1 CALM3
6 disordered domain specific binding GO:0097718 9.58 CALM1 CALM2 CALM3
7 calcium-dependent protein binding GO:0048306 9.56 CALM1 CALM3
8 enzyme regulator activity GO:0030234 9.54 CALM1 CALM3
9 protein serine/threonine kinase activator activity GO:0043539 9.54 CALM1 CALM2 CALM3
10 phosphatidylinositol 3-kinase binding GO:0043548 9.52 CALM1 CALM3
11 nitric-oxide synthase binding GO:0050998 9.51 CALM1 CALM3
12 titin binding GO:0031432 9.5 CALM1 CALM2 CALM3
13 calcium channel inhibitor activity GO:0019855 9.49 CALM1 CALM2
14 nitric-oxide synthase regulator activity GO:0030235 9.48 CALM1 CALM3
15 type 3 metabotropic glutamate receptor binding GO:0031800 9.43 CALM1 CALM3
16 adenylate cyclase binding GO:0008179 9.43 CALM1 CALM2 CALM3
17 protein phosphatase activator activity GO:0072542 9.33 CALM1 CALM2 CALM3
18 adenylate cyclase activator activity GO:0010856 9.13 CALM1 CALM2 CALM3
19 N-terminal myristoylation domain binding GO:0031997 8.8 CALM1 CALM2 CALM3

Sources for Deafness, Autosomal Recessive 44

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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