DFNB18B
MCID: DFN248
MIFTS: 31

Deafness, Autosomal Recessive 18b (DFNB18B)

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

Aliases & Classifications for Deafness, Autosomal Recessive 18b

MalaCards integrated aliases for Deafness, Autosomal Recessive 18b:

Name: Deafness, Autosomal Recessive 18b 57 29 13 6 70
Dfnb18b 57 12 72
Autosomal Recessive Nonsyndromic Deafness 18b 12 15
Deafness, Autosomal Recessive, Type 18b 39
Deafness, Autosomal Recessive, 18b 72
Autosomal Recessive Deafness 18b 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
prelingual onset


HPO:

31
deafness, autosomal recessive 18b:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110474
OMIM® 57 614945
OMIM Phenotypic Series 57 PS220290
MeSH 44 D034381
ICD10 32 H90.3
MedGen 41 C3554163
UMLS 70 C3554163

Summaries for Deafness, Autosomal Recessive 18b

UniProtKB/Swiss-Prot : 72 Deafness, autosomal recessive, 18B: A form of non-syndromic deafness characterized by a moderate hearing impairment, which can be associated with vestibular dysfunction, and a flat to shallow 'U' or slightly downsloping shaped audiograms.

MalaCards based summary : Deafness, Autosomal Recessive 18b, also known as dfnb18b, is related to deafness, autosomal recessive and peripheral vertigo. An important gene associated with Deafness, Autosomal Recessive 18b is OTOG (Otogelin). Related phenotypes are hearing impairment and hyporeflexia

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that has material basis in mutation in the OTOG gene on chromosome 11p15.

More information from OMIM: 614945 PS220290

Related Diseases for Deafness, Autosomal Recessive 18b

Diseases in the Rare Deafness family:

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
Deafness, Autosomal Dominant 78 Deafness, Autosomal Dominant 79
Deafness, Autosomal Recessive 116 Deafness, Autosomal Recessive 117
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
Autosomal Dominant Nonsyndromic Deafness 78 Autosomal Dominant Nonsyndromic Deafness 79
Autosomal Recessive Nonsyndromic Deafness 116 Autosomal Dominant Nonsyndromic Deafness 74
Autosomal Dominant Nonsyndromic Deafness 75 Autosomal Dominant Nonsyndromic Deafness 76
Autosomal Dominant Nonsyndromic Deafness 77 Nonsyndromic Deafness
Otof-Related Deafness Familial Deafness

Diseases related to Deafness, Autosomal Recessive 18b via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 25)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 10.0 TECTA OTOG
2 peripheral vertigo 9.9 OTOL1 OTOG
3 otospondylomegaepiphyseal dysplasia, autosomal dominant 9.9 TECTA OTOG
4 branchiootic syndrome 1 9.9 TECTA OTOG
5 erythrokeratodermia variabilis et progressiva 1 9.8 TECTA OTOG
6 deafness, autosomal recessive 22 9.7 TECTA STRC
7 deafness, autosomal dominant 4b 9.7 TECTA OTOGL OTOG
8 deafness, autosomal recessive 53 9.7 TECTA OTOGL OTOG
9 deafness, autosomal recessive 21 9.7 TECTA OTOGL OTOG
10 deafness, autosomal recessive 12 9.6 TECTA STRC
11 deafness, autosomal recessive 84b 9.6 STRC OTOGL OTOG
12 deafness, autosomal recessive 16 9.6 STRC OTOGL OTOG
13 vestibular disease 9.6 STRC OTOL1 OTOG
14 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.5 TECTA STRC
15 autosomal recessive nonsyndromic deafness 9.5 TECTA STRC OTOG
16 usher syndrome, type i 9.5 TECTA STRC OTOG
17 usher syndrome, type id 9.5 TECTA STRC OTOG
18 auditory system disease 9.5 TECTA STRC OTOG
19 usher syndrome type 2 9.4 TECTA STRC
20 benign paroxysmal positional nystagmus 9.4 TECTA OTOL1 OTOGL OTOG
21 sensorineural hearing loss 9.3 TECTA STRC OTOGL
22 deafness, autosomal dominant 12 9.2 TECTA STRC OTOGL OTOG
23 autosomal dominant nonsyndromic deafness 9.2 TECTA STRC OTOGL OTOG
24 rare genetic deafness 9.2 TECTA STRC OTOGL OTOG
25 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.2 TECTA STRC OTOGL OTOG

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 18b:



Diseases related to Deafness, Autosomal Recessive 18b

Symptoms & Phenotypes for Deafness, Autosomal Recessive 18b

Human phenotypes related to Deafness, Autosomal Recessive 18b:

31
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 HP:0000365
2 hyporeflexia 31 HP:0001265

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Ears:
deafness, nonprogressive, moderate
flat or shallow u-shaped audiogram
vestibular hyporeflexia

Clinical features from OMIM®:

614945 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 18b:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.92 OTOG OTOGL STRC TECTA

Drugs & Therapeutics for Deafness, Autosomal Recessive 18b

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 18b

Genetic Tests for Deafness, Autosomal Recessive 18b

Genetic tests related to Deafness, Autosomal Recessive 18b:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 18b 29 OTOG

Anatomical Context for Deafness, Autosomal Recessive 18b

Publications for Deafness, Autosomal Recessive 18b

Articles related to Deafness, Autosomal Recessive 18b:

# Title Authors PMID Year
1
Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment. 6 57
23122587 2012
2
Parental exome analysis identifies shared carrier status for a second recessive disorder in couples with an affected child. 6
33223529 2021
3
Otogelin, otogelin-like, and stereocilin form links connecting outer hair cell stereocilia to each other and the tectorial membrane. 61
31776257 2019
4
Otolith tethering in the zebrafish otic vesicle requires Otogelin and α-Tectorin. 61
25758224 2015

Variations for Deafness, Autosomal Recessive 18b

ClinVar genetic disease variations for Deafness, Autosomal Recessive 18b:

6 (show all 42)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 OTOG NM_001277269.1(OTOG):c.330C>G (p.Tyr110Ter) SNV Pathogenic 496812 rs574007567 GRCh37: 11:17574667-17574667
GRCh38: 11:17553120-17553120
2 OTOG NM_001277269.1(OTOG):c.7453C>T (p.Arg2485Ter) SNV Pathogenic 520437 rs866476223 GRCh37: 11:17655765-17655765
GRCh38: 11:17634218-17634218
3 OTOG NM_001277269.1(OTOG):c.5508del (p.Ala1838fs) Deletion Pathogenic 39817 rs1029389440 GRCh37: 11:17632316-17632316
GRCh38: 11:17610769-17610769
4 OTOG NM_001277269.1(OTOG):c.6347C>T (p.Pro2116Leu) SNV Pathogenic 39818 rs397514607 GRCh37: 11:17634185-17634185
GRCh38: 11:17612638-17612638
5 OTOG NM_001277269.1(OTOG):c.6559C>T (p.Arg2187Ter) SNV Pathogenic 39819 rs397514608 GRCh37: 11:17635243-17635243
GRCh38: 11:17613696-17613696
6 OTOG NM_001292063.2(OTOG):c.2079del (p.Ala694fs) Deletion Pathogenic 1031278 GRCh37: 11:17593749-17593749
GRCh38: 11:17572202-17572202
7 OTOG NM_001292063.2(OTOG):c.6761del (p.Gly2253_Ser2254insTer) Deletion Pathogenic 1031282 GRCh37: 11:17653297-17653297
GRCh38: 11:17631750-17631750
8 OTOG NM_001277269.1(OTOG):c.5092C>T (p.Gln1698Ter) SNV Pathogenic 489359 rs930688767 GRCh37: 11:17631903-17631903
GRCh38: 11:17610356-17610356
9 OTOG NM_001292063.2(OTOG):c.2867+2T>G SNV Pathogenic 1033814 GRCh37: 11:17608130-17608130
GRCh38: 11:17586583-17586583
10 OTOG NM_001292063.2(OTOG):c.3682+1G>A SNV Pathogenic 1033815 GRCh37: 11:17618555-17618555
GRCh38: 11:17597008-17597008
11 OTOG NM_001292063.2(OTOG):c.752G>A (p.Trp251Ter) SNV Pathogenic 1033817 GRCh37: 11:17578757-17578757
GRCh38: 11:17557210-17557210
12 OTOG NM_001277269.1(OTOG):c.2500C>T (p.Gln834Ter) SNV Likely pathogenic 417941 rs554847663 GRCh37: 11:17596437-17596437
GRCh38: 11:17574890-17574890
13 OTOG NM_001292063.2(OTOG):c.1666C>T (p.Gln556Ter) SNV Likely pathogenic 870667 GRCh37: 11:17590724-17590724
GRCh38: 11:17569177-17569177
14 OTOG NM_001277269.1(OTOG):c.7896G>A (p.Trp2632Ter) SNV Likely pathogenic 623203 rs1565129771 GRCh37: 11:17660062-17660062
GRCh38: 11:17638515-17638515
15 OTOG NM_001292063.2(OTOG):c.2561+1del Deletion Likely pathogenic 977076 GRCh37: 11:17598177-17598177
GRCh38: 11:17576630-17576630
16 OTOG NM_001292063.2(OTOG):c.5438T>G (p.Val1813Gly) SNV Likely pathogenic 987926 GRCh37: 11:17632285-17632285
GRCh38: 11:17610738-17610738
17 OTOG NM_001292063.2(OTOG):c.7418del (p.Arg2473fs) Deletion Likely pathogenic 869476 GRCh37: 11:17655766-17655766
GRCh38: 11:17634219-17634219
18 OTOG NM_001292063.2(OTOG):c.996G>T (p.Gln332His) SNV Uncertain significance 979184 GRCh37: 11:17579862-17579862
GRCh38: 11:17558315-17558315
19 OTOG NM_001277269.1(OTOG):c.7003C>T (p.Arg2335Trp) SNV Uncertain significance 203388 rs755149839 GRCh37: 11:17653668-17653668
GRCh38: 11:17632121-17632121
20 OTOG NM_001277269.1(OTOG):c.1876C>T (p.Arg626Trp) SNV Uncertain significance 417901 rs201183725 GRCh37: 11:17591822-17591822
GRCh38: 11:17570275-17570275
21 OTOG NM_001277269.1(OTOG):c.433G>A (p.Gly145Ser) SNV Uncertain significance 417886 rs186893662 GRCh37: 11:17574923-17574923
GRCh38: 11:17553376-17553376
22 OTOG NM_001277269.1(OTOG):c.1220A>C (p.Gln407Pro) SNV Uncertain significance 229084 rs876657936 GRCh37: 11:17580679-17580679
GRCh38: 11:17559132-17559132
23 OTOG NM_001277269.1(OTOG):c.935A>G (p.His312Arg) SNV Uncertain significance 229109 rs189159426 GRCh37: 11:17579765-17579765
GRCh38: 11:17558218-17558218
24 OTOG NM_001277269.1(OTOG):c.6215G>A (p.Arg2072His) SNV Uncertain significance 451001 rs188527711 GRCh37: 11:17633764-17633764
GRCh38: 11:17612217-17612217
25 OTOG NM_001277269.1(OTOG):c.952G>A (p.Ala318Thr) SNV Uncertain significance 417896 rs553079779 GRCh37: 11:17579782-17579782
GRCh38: 11:17558235-17558235
26 OTOG NM_001277269.1(OTOG):c.4877C>T (p.Pro1626Leu) SNV Uncertain significance 417883 rs897939885 GRCh37: 11:17631688-17631688
GRCh38: 11:17610141-17610141
27 OTOG NM_001277269.1(OTOG):c.5381T>C (p.Leu1794Pro) SNV Uncertain significance 417918 rs61744602 GRCh37: 11:17632192-17632192
GRCh38: 11:17610645-17610645
28 OTOG NM_001277269.1(OTOG):c.7729+1G>A SNV Uncertain significance 488980 rs548496846 GRCh37: 11:17656735-17656735
GRCh38: 11:17635188-17635188
29 OTOG NM_001277269.2(OTOG):c.[421G>A] SNV Uncertain significance 229094 rs552304627 GRCh37: 11:17574758-17574758
GRCh38: 11:17553211-17553211
30 OTOG NM_001292063.2(OTOG):c.5480C>T (p.Ser1827Phe) SNV Uncertain significance 1031279 GRCh37: 11:17632327-17632327
GRCh38: 11:17610780-17610780
31 OTOG NM_001292063.2(OTOG):c.5696C>A (p.Ser1899Tyr) SNV Uncertain significance 1031280 GRCh37: 11:17632543-17632543
GRCh38: 11:17610996-17610996
32 OTOG NM_001292063.2(OTOG):c.6197A>G (p.His2066Arg) SNV Uncertain significance 1031281 GRCh37: 11:17633782-17633782
GRCh38: 11:17612235-17612235
33 OTOG NM_001292063.1(OTOG):c.600_602CTT[1] (p.Phe202del) Microsatellite Uncertain significance 596372 rs753906203 GRCh37: 11:17577384-17577386
GRCh38: 11:17555837-17555839
34 OTOG NM_001292063.2(OTOG):c.7090G>A (p.Asp2364Asn) SNV Uncertain significance 1033816 GRCh37: 11:17655244-17655244
GRCh38: 11:17633697-17633697
35 OTOG NM_001277269.1(OTOG):c.7694G>C (p.Arg2565Pro) SNV Uncertain significance 517352 rs563003848 GRCh37: 11:17656699-17656699
GRCh38: 11:17635152-17635152
36 OTOG NM_001292063.2(OTOG):c.7057C>T (p.Arg2353Cys) SNV Uncertain significance 1031283 GRCh37: 11:17653758-17653758
GRCh38: 11:17632211-17632211
37 OTOG NM_001292063.2(OTOG):c.7121G>A (p.Cys2374Tyr) SNV Uncertain significance 1031284 GRCh37: 11:17655275-17655275
GRCh38: 11:17633728-17633728
38 OTOG NM_001292063.2(OTOG):c.7480+6T>C SNV Uncertain significance 1031285 GRCh37: 11:17655834-17655834
GRCh38: 11:17634287-17634287
39 OTOG NM_001277269.1(OTOG):c.8161G>A (p.Asp2721Asn) SNV Uncertain significance 504840 rs189910531 GRCh37: 11:17662573-17662573
GRCh38: 11:17641026-17641026
40 OTOG NM_001292063.2(OTOG):c.1148A>G (p.Tyr383Cys) SNV Uncertain significance 1033812 GRCh37: 11:17580643-17580643
GRCh38: 11:17559096-17559096
41 OTOG NM_001292063.2(OTOG):c.2542A>T (p.Ile848Phe) SNV Uncertain significance 1033813 GRCh37: 11:17598158-17598158
GRCh38: 11:17576611-17576611
42 OTOG NM_001277269.1(OTOG):c.371C>G (p.Ala124Gly) SNV Uncertain significance 229089 rs545257884 GRCh37: 11:17574708-17574708
GRCh38: 11:17553161-17553161

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 18b:

72
# Symbol AA change Variation ID SNP ID
1 OTOG p.Pro2116Leu VAR_069250 rs397514607

Expression for Deafness, Autosomal Recessive 18b

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 18b.

Pathways for Deafness, Autosomal Recessive 18b

GO Terms for Deafness, Autosomal Recessive 18b

Cellular components related to Deafness, Autosomal Recessive 18b according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.26 TECTA OTOL1 OTOGL OTOG
2 extracellular matrix GO:0031012 8.92 TECTA OTOL1 OTOGL OTOG

Biological processes related to Deafness, Autosomal Recessive 18b according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell-matrix adhesion GO:0007160 9.16 TECTA STRC
2 L-arabinose metabolic process GO:0046373 8.96 OTOGL OTOG
3 sensory perception of sound GO:0007605 8.92 TECTA STRC OTOGL OTOG

Molecular functions related to Deafness, Autosomal Recessive 18b according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.96 TECTA OTOL1
2 alpha-L-arabinofuranosidase activity GO:0046556 8.62 OTOGL OTOG

Sources for Deafness, Autosomal Recessive 18b

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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