MCID: DFN003
MIFTS: 25

Deafness and Hereditary Hearing Loss malady

Genetic diseases (common), Ear diseases categories

Aliases & Classifications for Deafness and Hereditary Hearing Loss

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Deafness and Hereditary Hearing Loss, Aliases & Descriptions:

Name: Deafness and Hereditary Hearing Loss 19 20 22


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Ear diseases


Summaries for Deafness and Hereditary Hearing Loss

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MalaCards based summary: Deafness and Hereditary Hearing Loss is related to nonsyndromic hearing loss and deafness, mitochondrial and pendred syndrome/dfnb4. An important gene associated with Deafness and Hereditary Hearing Loss is MT-TS1 (mitochondrially encoded tRNA serine 1 (UCN)), and among its related pathways are Cell adhesion Gap junctions and Gap junction trafficking. The compounds scrambled 10panx and gap 27 have been mentioned in the context of this disorder. Related mouse phenotypes are behavior/neurological and nervous system.

GeneReviews summary for deafness-overview

Related Diseases for Deafness and Hereditary Hearing Loss

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Graphical network of diseases related to Deafness and Hereditary Hearing Loss:



Diseases related to deafness and hereditary hearing loss

Symptoms for Deafness and Hereditary Hearing Loss

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Drugs & Therapeutics for Deafness and Hereditary Hearing Loss

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Drug clinical trials:

Search ClinicalTrials for Deafness and Hereditary Hearing Loss

Search NIH Clinical Center for Deafness and Hereditary Hearing Loss

Genetic Tests for Deafness and Hereditary Hearing Loss

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Genetic tests related to Deafness and Hereditary Hearing Loss:

id Genetic test Affiliating Genes
1 Hereditary Hearing Loss and Deafness20 22

Anatomical Context for Deafness and Hereditary Hearing Loss

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Animal Models for Deafness and Hereditary Hearing Loss or affiliated genes

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MGI Mouse Phenotypes related to Deafness and Hereditary Hearing Loss:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053867.4SLC26A4, MIR96, FOXI1, MYO15A, LHFPL5, POU3F4
2MP:00036316.4MARVELD2, MIR96, FOXI1, STRC, MYO15A, ESPN
3MP:00053775.6SLC26A4, LHFPL5, DFNB59, TMIE, TMPRSS3, POU4F3

Publications for Deafness and Hereditary Hearing Loss

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Articles related to Deafness and Hereditary Hearing Loss:

idTitleAuthorsYear
1
Deafness and Hereditary Hearing Loss Overview (20301607)
1993

Variations for Deafness and Hereditary Hearing Loss

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Clinvar genetic disease variations for Deafness and Hereditary Hearing Loss:

6 (show all 106)
id Gene Variation Type Significance SNP ID Assembly Location
1GJB2NM_004004.5(GJB2): c.101T> C (p.Met34Thr)single nucleotide variantPathogenicrs35887622GRCh37Chr 13, 20763620: 20763620
2GJB2NM_004004.5(GJB2): c.231G> A (p.Trp77Ter)single nucleotide variantPathogenicrs80338944GRCh37Chr 13, 20763490: 20763490
3GJB2NM_004004.5(GJB2): c.71G> A (p.Trp24Ter)single nucleotide variantPathogenicrs104894396GRCh37Chr 13, 20763650: 20763650
4GJB2NM_004004.5(GJB2): c.229T> C (p.Trp77Arg)single nucleotide variantPathogenicrs104894397GRCh37Chr 13, 20763492: 20763492
5GJB2NM_004004.5(GJB2): c.35delG (p.Gly12Valfs)deletionPathogenicrs80338939GRCh37Chr 13, 20763686: 20763686
6GJB2NM_004004.5(GJB2): c.139G> T (p.Glu47Ter)single nucleotide variantPathogenicrs104894398GRCh37Chr 13, 20763582: 20763582
7GJB2NM_004004.5(GJB2): c.358_360delGAG (p.Glu120del)deletionPathogenicrs80338947GRCh37Chr 13, 20763361: 20763363
8GJB2NM_004004.5(GJB2): c.551G> C (p.Arg184Pro)single nucleotide variantPathogenicrs80338950GRCh37Chr 13, 20763170: 20763170
9GJB2NM_004004.5(GJB2): c.427C> T (p.Arg143Trp)single nucleotide variantPathogenicrs80338948GRCh37Chr 13, 20763294: 20763294
10GJB2NM_004004.5(GJB2): c.167delT (p.Leu56Argfs)deletionPathogenicrs80338942GRCh37Chr 13, 20763554: 20763554
11GJB2NM_004004.5(GJB2): c.223C> T (p.Arg75Trp)single nucleotide variantPathogenicrs104894402GRCh37Chr 13, 20763498: 20763498
12GJB2NM_004004.5(GJB2): c.235delC (p.Leu79Cysfs)deletionPathogenicrs80338943GRCh37Chr 13, 20763486: 20763486
13GJB2NM_004004.5(GJB2): c.269T> C (p.Leu90Pro)single nucleotide variantPathogenicrs80338945GRCh37Chr 13, 20763452: 20763452
14GJB2NM_004004.5(GJB2): c.109G> A (p.Val37Ile)single nucleotide variantPathogenicrs72474224GRCh37Chr 13, 20763612: 20763612
15GJB2NM_004004.5(GJB2): c.-23+1G> Asingle nucleotide variantPathogenicrs80338940GRCh37Chr 13, 20766921: 20766921
16GJB2NM_004004.5(GJB2): c.250G> C (p.Val84Leu)single nucleotide variantPathogenicrs104894409GRCh37Chr 13, 20763471: 20763471
17GJB2NM_004004.5(GJB2): c.250G> A (p.Val84Met)single nucleotide variantPathogenicrs104894409GRCh37Chr 13, 20763471: 20763471
18GJB2NM_004004.5(GJB2): c.35G> T (p.Gly12Val)single nucleotide variantLikely pathogenic, Pathogenicrs1801002GRCh37Chr 13, 20763686: 20763686
19OTOFNM_194248.2(OTOF): c.2122C> T (p.Arg708Ter)single nucleotide variantPathogenicrs80356590GRCh37Chr 2, 26702224: 26702224
20OTOFNM_194248.2(OTOF): c.2348delG (p.Gly783Alafs)deletionPathogenicrs80356591GRCh37Chr 2, 26700342: 26700342
21TMC1NM_138691.2(TMC1): c.100C> T (p.Arg34Ter)single nucleotide variantPathogenicrs121908073GRCh37Chr 9, 75309494: 75309494
22MT-TS1m.7471_7472insCduplicationPathogenicrs111033319GRCh37Chr MT, 7471: 7472
23POU3F4NM_000307.4(POU3F4): c.499C> T (p.Arg167Ter)single nucleotide variantPathogenicrs111033345GRCh37Chr X, 82763831: 82763831
24POU3F4NM_000307.4(POU3F4): c.853_854delAT (p.Ile285Argfs)deletionPathogenicrs397516336GRCh37Chr X, 82764185: 82764186
25NM_000441.1(SLC26A4): c.-3-2A> Gsingle nucleotide variantPathogenicrs397516411GRCh37Chr 7, 107302082: 107302082
26SLC26A4NM_000441.1(SLC26A4): c.1149+3A> Gsingle nucleotide variantPathogenicrs111033314GRCh37Chr 7, 107329648: 107329648
27SLC26A4NM_000441.1(SLC26A4): c.1198delT (p.Cys400Valfs)deletionPathogenicrs397516413GRCh37Chr 7, 107330617: 107330617
28SLC26A4NM_000441.1(SLC26A4): c.1226G> A (p.Arg409His)single nucleotide variantPathogenicrs111033305GRCh37Chr 7, 107330645: 107330645
29SLC26A4NM_000441.1(SLC26A4): c.1229C> T (p.Thr410Met)single nucleotide variantPathogenicrs111033220GRCh37Chr 7, 107330648: 107330648
30SLC26A4NM_000441.1(SLC26A4): c.1264-1G> Csingle nucleotide variantPathogenicrs111033311GRCh37Chr 7, 107334847: 107334847
31SLC26A4NM_000441.1(SLC26A4): c.1336C> T (p.Gln446Ter)single nucleotide variantPathogenicrs397516416GRCh37Chr 7, 107334920: 107334920
32SLC26A4NM_000441.1(SLC26A4): c.1341+1delGdeletionPathogenicrs397516417GRCh37Chr 7, 107334926: 107334926
33SLC26A4NM_000441.1(SLC26A4): c.1437+2T> Gsingle nucleotide variantPathogenicrs397516418GRCh37Chr 7, 107335163: 107335163
34SLC26A4NM_000441.1(SLC26A4): c.1489G> A (p.Gly497Ser)single nucleotide variantPathogenicrs111033308GRCh37Chr 7, 107336429: 107336429
35SLC26A4NM_000441.1(SLC26A4): c.1614+1G> Asingle nucleotide variantPathogenicrs111033312GRCh37Chr 7, 107338557: 107338557
36SLC26A4NM_000441.1(SLC26A4): c.164+2T> Csingle nucleotide variantPathogenicrs397516420GRCh37Chr 7, 107302252: 107302252
37SLC26A4NM_000441.1(SLC26A4): c.2015G> A (p.Gly672Glu)single nucleotide variantPathogenicrs111033309GRCh37Chr 7, 107342483: 107342483
38SLC26A4NM_000441.1(SLC26A4): c.2027T> A (p.Leu676Gln)single nucleotide variantPathogenicrs111033318GRCh37Chr 7, 107342495: 107342495
39SLC26A4NM_000441.1(SLC26A4): c.2188C> T (p.Gln730Ter)single nucleotide variantPathogenicrs397516428GRCh37Chr 7, 107350597: 107350597
40NM_000441.1(SLC26A4): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicrs111033302GRCh37Chr 7, 107302088: 107302088
41NM_000441.1(SLC26A4): c.68C> A (p.Ser23Ter)single nucleotide variantPathogenicrs397516430GRCh37Chr 7, 107302154: 107302154
42SLC26A4NM_000441.1(SLC26A4): c.716T> A (p.Val239Asp)single nucleotide variantPathogenicrs111033256GRCh37Chr 7, 107315505: 107315505
43SLC26A4NM_000441.1(SLC26A4): c.765+2T> Csingle nucleotide variantPathogenicrs397516432GRCh37Chr 7, 107315556: 107315556
44GJB2NM_004004.5(GJB2): c.169C> T (p.Gln57Ter)single nucleotide variantPathogenicrs111033297GRCh37Chr 13, 20763552: 20763552
45GJB2NM_004004.5(GJB2): c.1A> G (p.Met1Val)single nucleotide variantPathogenicrs111033293GRCh37Chr 13, 20763720: 20763720
46GJB2NM_004004.5(GJB2): c.299_300delAT (p.His100Argfs)deletionPathogenicrs111033204GRCh37Chr 13, 20763421: 20763422
47GJB2NM_004004.5(GJB2): c.31_68del38 (p.Gly11Leufs)deletionPathogenicrs397516873GRCh37Chr 13, 20763653: 20763690
48GJB2NM_004004.5(GJB2): c.370C> T (p.Gln124Ter)single nucleotide variantPathogenicrs397516874GRCh37Chr 13, 20763351: 20763351
49GJB2NM_004004.5(GJB2): c.416G> A (p.Ser139Asn)single nucleotide variantPathogenicrs76434661GRCh37Chr 13, 20763305: 20763305
50GJB2NM_004004.5(GJB2): c.426C> A (p.Phe142Leu)single nucleotide variantPathogenicrs397516877GRCh37Chr 13, 20763295: 20763295
51GJB2NM_004004.5(GJB2): c.44A> C (p.Lys15Thr)single nucleotide variantPathogenicrs111033217GRCh37Chr 13, 20763677: 20763677
52GJB2NM_004004.5(GJB2): c.617A> G (p.Asn206Ser)single nucleotide variantPathogenicrs111033294GRCh37Chr 13, 20763104: 20763104
53GJB2NM_004004.5(GJB2): c.95G> A (p.Arg32His)single nucleotide variantPathogenicrs111033190GRCh37Chr 13, 20763626: 20763626
54WFS1NM_006005.3(WFS1): c.2054G> C (p.Arg685Pro)single nucleotide variantPathogenicrs142668478GRCh37Chr 4, 6303576: 6303576
55MYO15ANM_016239.3(MYO15A): c.7006dupC (p.Gln2336Profs)duplicationPathogenicrs397517286GRCh37Chr 17, 18052579: 18052580
56MYO15ANM_016239.3(MYO15A): c.8100delC (p.Lys2701Argfs)deletionPathogenicrs397517287GRCh37Chr 17, 18057456: 18057456
57MYO15ANM_016239.3(MYO15A): c.8767C> T (p.Arg2923Ter)single nucleotide variantPathogenicrs373462792GRCh37Chr 17, 18060523: 18060523
58CDH23NM_022124.5(CDH23): c.2012delT (p.Phe671Serfs)deletionPathogenicrs397517313GRCh37Chr 10, 73447429: 73447429
59NM_022124.5(CDH23): c.3481C> T (p.Arg1161Ter)single nucleotide variantPathogenicrs397517323GRCh37Chr 10, 73485179: 73485179
60NM_022124.5(CDH23): c.3628C> T (p.Gln1210Ter)single nucleotide variantPathogenicrs397517326GRCh37Chr 10, 73490274: 73490274
61NM_022124.5(CDH23): c.3706C> T (p.Arg1236Ter)single nucleotide variantPathogenicrs397517327GRCh37Chr 10, 73490352: 73490352
62CDH23NM_022124.5(CDH23): c.4309C> T (p.Arg1437Ter)single nucleotide variantPathogenicrs397517329GRCh37Chr 10, 73498354: 73498354
63CDH23NM_022124.5(CDH23): c.46delG (p.Val16Cysfs)deletionPathogenicrs397517331GRCh37Chr 10, 73199634: 73199634
64CDH23NM_022124.5(CDH23): c.5272C> T (p.Gln1758Ter)single nucleotide variantPathogenicrs397517337GRCh37Chr 10, 73539108: 73539108
65CDH23NM_022124.5(CDH23): c.5712+1G> Asingle nucleotide variantPathogenicrs397517341GRCh37Chr 10, 73544858: 73544858
66CDH23NM_022124.5(CDH23): c.5712G> A (p.Thr1904=)single nucleotide variantPathogenicrs397517342GRCh37Chr 10, 73544857: 73544857
67CDH23NM_022124.5(CDH23): c.5923+1G> Asingle nucleotide variantPathogenicrs397517346GRCh37Chr 10, 73548800: 73548800
68CDH23NM_022124.5(CDH23): c.6049+1G> Asingle nucleotide variantPathogenicrs111033247GRCh37Chr 10, 73550171: 73550171
69CDH23NM_022124.5(CDH23): c.6050-9G> Asingle nucleotide variantPathogenicrs367928692GRCh37Chr 10, 73550880: 73550880
70CDH23NM_022124.5(CDH23): c.6968delC (p.Pro2323Leufs)deletionPathogenicrs397517350GRCh37Chr 10, 73558249: 73558249
71CDH23NM_022124.5(CDH23): c.7776G> A (p.Trp2592Ter)single nucleotide variantPathogenicrs397517353GRCh37Chr 10, 73563081: 73563081
72CDH23NM_022124.5(CDH23): c.8781C> A (p.Tyr2927Ter)single nucleotide variantPathogenicrs397517362GRCh37Chr 10, 73569635: 73569635
73CDH23NM_022124.5(CDH23): c.9629_9632delTCAA (p.Ile3210Argfs)deletionPathogenicrs397517367GRCh37Chr 10, 73572643: 73572646
74TMPRSS3NM_024022.2(TMPRSS3): c.323-6G> Asingle nucleotide variantPathogenicrs374793617GRCh37Chr 21, 43808641: 43808641
75TMPRSS3NM_024022.2(TMPRSS3): c.325C> T (p.Arg109Trp)single nucleotide variantPathogenicrs201632198GRCh37Chr 21, 43808633: 43808633
76TMPRSS3NM_024022.2(TMPRSS3): c.579dupA (p.Cys194Metfs)duplicationPathogenicrs397517376GRCh37Chr 21, 43804115: 43804116
77PCDH15NM_033056.3(PCDH15): c.16delT (p.Tyr6Ilefs)deletionPathogenicrs397517451GRCh37Chr 10, 56424007: 56424007
78PCDH15NM_033056.3(PCDH15): c.1998-2A> Gsingle nucleotide variantPathogenicrs397517452GRCh37Chr 10, 55839186: 55839186
79PCDH15NM_033056.3(PCDH15): c.3316C> T (p.Arg1106Ter)single nucleotide variantPathogenicrs202033121GRCh37Chr 10, 55698632: 55698632
80TMC1NM_138691.2(TMC1): c.1165C> T (p.Arg389Ter)single nucleotide variantPathogenicrs151001642GRCh37Chr 9, 75404174: 75404174
81TMC1NM_138691.2(TMC1): c.1763+3A> Gsingle nucleotide variantPathogenicrs370898981GRCh37Chr 9, 75431129: 75431129
82LOXHD1NM_144612.6(LOXHD1): c.2497C> T (p.Arg833Ter)single nucleotide variantPathogenicrs188119157GRCh37Chr 18, 44143129: 44143129
83SLC26A4NM_000441.1(SLC26A4): c.1489G> A (p.Gly497Ser)single nucleotide variantPathogenicrs111033308GRCh37Chr 7, 107336429: 107336429
84SLC26A4NM_000441.1(SLC26A4): c.707T> C (p.Leu236Pro)single nucleotide variantPathogenicrs80338848GRCh37Chr 7, 107315496: 107315496
85SLC26A4NM_000441.1(SLC26A4): c.1246A> C (p.Thr416Pro)single nucleotide variantPathogenicrs28939086GRCh37Chr 7, 107330665: 107330665
86OTOFNM_194248.2(OTOF): c.2153G> A (p.Trp718Ter)single nucleotide variantPathogenicrs111033383GRCh37Chr 2, 26702193: 26702193
87SLC26A4NM_000441.1(SLC26A4): c.1001+1G> Asingle nucleotide variantPathogenicrs80338849GRCh37Chr 7, 107323983: 107323983
88SLC26A4NM_000441.1(SLC26A4): c.1151A> G (p.Glu384Gly)single nucleotide variantPathogenicrs111033244GRCh37Chr 7, 107330570: 107330570
89SLC26A4NM_000441.1(SLC26A4): c.626G> T (p.Gly209Val)single nucleotide variantPathogenicrs111033303GRCh37Chr 7, 107315415: 107315415
90OTOFNM_194248.2(OTOF): c.4023+1G> Asingle nucleotide variantPathogenicrs186810296GRCh37Chr 2, 26693460: 26693460
91SLC26A4NM_000441.1(SLC26A4): c.2168A> G (p.His723Arg)single nucleotide variantPathogenicrs121908362GRCh37Chr 7, 107350577: 107350577
92OTOFNM_194248.2(OTOF): c.5098G> C (p.Glu1700Gln)single nucleotide variantLikely pathogenic, Pathogenicrs199766465GRCh37Chr 2, 26686837: 26686837
93SLC26A4NM_000441.1(SLC26A4): c.1334T> G (p.Leu445Trp)single nucleotide variantPathogenicrs111033307GRCh37Chr 7, 107334918: 107334918
94SLC26A4NM_000441.1(SLC26A4): c.578C> T (p.Thr193Ile)single nucleotide variantPathogenicrs111033348GRCh37Chr 7, 107314771: 107314771
95SLC26A4NM_000441.1(SLC26A4): c.412G> T (p.Val138Phe)single nucleotide variantPathogenicrs111033199GRCh37Chr 7, 107312690: 107312690
96SLC26A4NM_000441.1(SLC26A4): c.1588T> C (p.Tyr530His)single nucleotide variantPathogenicrs111033254GRCh37Chr 7, 107338530: 107338530
97NM_000441.1(SLC26A4): c.85G> C (p.Glu29Gln)single nucleotide variantPathogenicrs111033205GRCh37Chr 7, 107302171: 107302171
98SLC26A4NM_000441.1(SLC26A4): c.919-2A> Gsingle nucleotide variantPathogenicrs111033313GRCh37Chr 7, 107323898: 107323898
99SLC26A4NM_000441.1(SLC26A4): c.1003T> C (p.Phe335Leu)single nucleotide variantLikely pathogenic, Pathogenicrs111033212GRCh37Chr 7, 107329499: 107329499
100CDH23NM_022124.5(CDH23): c.5237G> A (p.Arg1746Gln)single nucleotide variantPathogenicrs111033270GRCh37Chr 10, 73539073: 73539073
101CDH23NM_022124.5(CDH23): c.6442G> A (p.Asp2148Asn)single nucleotide variantPathogenicrs111033271GRCh37Chr 10, 73553127: 73553127
102PCDH15NM_033056.3(PCDH15): c.733C> T (p.Arg245Ter)single nucleotide variantPathogenicrs111033260GRCh37Chr 10, 56077174: 56077174
103USH1CNM_005709.3(USH1C): c.238dupC (p.Arg80Profs)duplicationPathogenicrs397515359GRCh37Chr 11, 17552956: 17552956
104USH1CNM_005709.3(USH1C): c.216G> A (p.Val72=)single nucleotide variantPathogenicrs151045328GRCh37Chr 11, 17552978: 17552978
105OTOFNM_194248.2(OTOF): c.2485C> T (p.Gln829Ter)single nucleotide variantPathogenicrs80356593GRCh37Chr 2, 26700078: 26700078
106NM_004086.2(COCH): c.151C> T (p.Pro51Ser)single nucleotide variantPathogenicrs28938175GRCh37Chr 14, 31346846: 31346846

Expression for genes affiliated with Deafness and Hereditary Hearing Loss

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Search GEO for disease gene expression data for Deafness and Hereditary Hearing Loss.

Pathways for genes affiliated with Deafness and Hereditary Hearing Loss

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Pathways related to Deafness and Hereditary Hearing Loss according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9GJB3, GJB2
2
Show member pathways
9.9GJB3, GJB2

Compounds for genes affiliated with Deafness and Hereditary Hearing Loss

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Compounds related to Deafness and Hereditary Hearing Loss according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1scrambled 10panx5910.1GJB3, GJB2
2gap 275910.1GJB2, GJB3
3carbenoxolone disodium5910.0GJB2, GJB3
410panx5910.0GJB3, GJB2
5octanol28 2410.9GJB3, GJB2
6flufenamic acid28 43 2 1212.9GJB2, GJB3
7carbenoxolone43 28 1211.8GJB2, GJB3
8ca2+289.6GJB2, GJB3

GO Terms for genes affiliated with Deafness and Hereditary Hearing Loss

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Cellular components related to Deafness and Hereditary Hearing Loss according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1connexon complexGO:00059229.6GJB2, GJB3
2apical plasma membraneGO:00163249.5LHFPL5, MARVELD2, SLC26A4
3stereociliumGO:00324209.4ESPN, MYO15A, STRC
4stereocilium bundle tipGO:00324269.3LHFPL5, ESPN, STRC

Biological processes related to Deafness and Hereditary Hearing Loss according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1detection of mechanical stimulus involved in sensory perception of soundGO:00509109.8STRC, LHFPL5
2auditory receptor cell stereocilium organizationGO:00600889.5STRC, LHFPL5
3inner ear morphogenesisGO:00424729.2TMIE, POU4F3, MYO15A, FOXI1
4sensory perception of soundGO:00076056.5SLC26A4, DFNB59, TMIE, TMPRSS3, POU4F3, POU3F4

Molecular functions related to Deafness and Hereditary Hearing Loss according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1gap junction channel activityGO:00052439.9GJB3, GJB2

Products for genes affiliated with Deafness and Hereditary Hearing Loss

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  • Antibodies
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Sources for Deafness and Hereditary Hearing Loss

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet