DFNA23
MCID: DFN192
MIFTS: 31

Deafness, Autosomal Dominant 23 (DFNA23)

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

Aliases & Classifications for Deafness, Autosomal Dominant 23

MalaCards integrated aliases for Deafness, Autosomal Dominant 23:

Name: Deafness, Autosomal Dominant 23 57 29 13 6 70
Dfna23 57 12 72
Autosomal Dominant Nonsyndromic Deafness 23 12 15
Deafness, Autosomal Dominant, Type 23 39
Deafness, Autosomal Dominant, 23 72
Autosomal Dominant Deafness 23 12

Characteristics:

OMIM®:

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

Miscellaneous:
based on report of 1 swiss german kindred and 1 tunisian kindred (last curated august 2015)


HPO:

31
deafness, autosomal dominant 23:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110553
OMIM® 57 605192
OMIM Phenotypic Series 57 PS124900
MeSH 44 D006319
ICD10 32 H90.3
MedGen 41 C1854594
UMLS 70 C1854594

Summaries for Deafness, Autosomal Dominant 23

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset with high frequency progressive hearing loss and has material basis in mutation in the SIX1 gene on chromosome 14q23.

MalaCards based summary : Deafness, Autosomal Dominant 23, also known as dfna23, is related to branchiootic syndrome 3 and branchiootic syndrome. An important gene associated with Deafness, Autosomal Dominant 23 is SIX1 (SIX Homeobox 1). Affiliated tissues include kidney, and related phenotypes are conductive hearing impairment and preauricular pit

UniProtKB/Swiss-Prot : 72 Deafness, autosomal dominant, 23: A form of non-syndromic deafness characterized by prelingual, bilateral, symmetric hearing loss with a conductive component present in some but not all patients.

More information from OMIM: 605192 PS124900

Related Diseases for Deafness, Autosomal Dominant 23

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 Dominant 23 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 branchiootic syndrome 3 10.1 SIX1 MIR9718
2 branchiootic syndrome 10.0 SIX1 MIR9718
3 deafness, autosomal dominant 53 10.0 STXBP6 SLC22A17
4 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
5 branchiootorenal spectrum disorder 9.9
6 nonsyndromic hearing loss 9.9
7 autosomal dominant non-syndromic sensorineural deafness type dfna 9.9
8 renal hypodysplasia/aplasia 1 9.9 TMCO1 SIX1
9 traumatic glaucoma 9.9 TMCO1 GMDS
10 deafness, autosomal recessive 5 9.8 STXBP6 SLC22A17 NGRN
11 optic nerve hypoplasia, bilateral 9.7 TMCO1 GAS7
12 anterior segment dysgenesis 9.6 TMCO1 GMDS
13 glaucoma, normal tension 9.6 TMCO1 SIX1 GAS7
14 open-angle glaucoma 9.3 TMCO1 SIX1 GMDS GAS7
15 glaucoma, primary open angle 9.0 TMCO1 SIX1 GMDS GAS7 FNDC3B

Graphical network of the top 20 diseases related to Deafness, Autosomal Dominant 23:



Diseases related to Deafness, Autosomal Dominant 23

Symptoms & Phenotypes for Deafness, Autosomal Dominant 23

Human phenotypes related to Deafness, Autosomal Dominant 23:

31
# Description HPO Frequency HPO Source Accession
1 conductive hearing impairment 31 frequent (33%) HP:0000405
2 preauricular pit 31 occasional (7.5%) HP:0004467
3 sensorineural hearing impairment 31 HP:0000407
4 vesicoureteral reflux 31 HP:0000076

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Ears:
hearing loss, bilateral, moderate to profound (normal to mild at low frequencies, normal to profound in middle frequencies, and moderate to profound at high frequencies)
preauricular pits (in some patients)

Genitourinary Ureters:
vesicoureteral reflux (in 1 swiss german patient)

Genitourinary Kidneys:
solitary left hypodysplastic kidney (in 1 swiss german patient)

Clinical features from OMIM®:

605192 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 23:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 skeleton MP:0005390 9.1 FNDC3B GAS7 GMDS SIX1 SLC22A17 TMCO1

Drugs & Therapeutics for Deafness, Autosomal Dominant 23

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 23

Genetic Tests for Deafness, Autosomal Dominant 23

Genetic tests related to Deafness, Autosomal Dominant 23:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 23 29 SIX1

Anatomical Context for Deafness, Autosomal Dominant 23

MalaCards organs/tissues related to Deafness, Autosomal Dominant 23:

40
Kidney

Publications for Deafness, Autosomal Dominant 23

Articles related to Deafness, Autosomal Dominant 23:

# Title Authors PMID Year
1
A novel locus (DFNA23) for prelingual autosomal dominant nonsyndromic hearing loss maps to 14q21-q22 in a Swiss German kindred. 57 6 61
10777717 2000
2
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. 6 57
15141091 2004
3
A novel dominant mutation in SIX1, affecting a highly conserved residue, result in only auditory defects in humans. 61 6
21700001 2011
4
Biochemical and functional characterization of six SIX1 Branchio-oto-renal syndrome mutations. 6
19497856 2009
5
A novel locus for autosomal dominant non-syndromic deafness, DFNA53, maps to chromosome 14q11.2-q12. 61
15958501 2006
6
A novel autosomal recessive non-syndromic deafness locus (DFNB35) maps to 14q24.1-14q24.3 in large consanguineous kindred from Pakistan. 61
12529709 2003

Variations for Deafness, Autosomal Dominant 23

ClinVar genetic disease variations for Deafness, Autosomal Dominant 23:

6 (show top 50) (show all 54)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SIX1 NM_005982.4(SIX1):c.373G>A (p.Glu125Lys) SNV Pathogenic 208361 rs797044960 GRCh37: 14:61115535-61115535
GRCh38: 14:60648817-60648817
2 SIX1 NM_005982.4(SIX1):c.397_399del (p.Glu133del) Deletion Pathogenic 8310 rs80356460 GRCh37: 14:61115509-61115511
GRCh38: 14:60648791-60648793
3 SIX1 NM_005982.4(SIX1):c.386A>G (p.Tyr129Cys) SNV Pathogenic 8308 rs104894478 GRCh37: 14:61115522-61115522
GRCh38: 14:60648804-60648804
4 SIX1 NM_005982.4(SIX1):c.386A>G (p.Tyr129Cys) SNV Pathogenic 8308 rs104894478 GRCh37: 14:61115522-61115522
GRCh38: 14:60648804-60648804
5 SIX1 NM_005982.4(SIX1):c.460A>T (p.Lys154Ter) SNV Likely pathogenic 417916 rs1060499595 GRCh37: 14:61115448-61115448
GRCh38: 14:60648730-60648730
6 SIX1 NM_005982.4(SIX1):c.644G>T (p.Ser215Ile) SNV Uncertain significance 466173 rs540778343 GRCh37: 14:61113212-61113212
GRCh38: 14:60646494-60646494
7 SIX1 NM_005982.4(SIX1):c.*688C>T SNV Uncertain significance 880739 GRCh37: 14:61112313-61112313
GRCh38: 14:60645595-60645595
8 SIX1 , MIR9718 NM_005982.4(SIX1):c.495C>T (p.Thr165=) SNV Uncertain significance 880804 GRCh37: 14:61115413-61115413
GRCh38: 14:60648695-60648695
9 SIX1 NM_005982.4(SIX1):c.*1251A>G SNV Uncertain significance 882088 GRCh37: 14:61111750-61111750
GRCh38: 14:60645032-60645032
10 SIX1 NM_005982.4(SIX1):c.*1232T>C SNV Uncertain significance 882089 GRCh37: 14:61111769-61111769
GRCh38: 14:60645051-60645051
11 SIX1 NM_005982.4(SIX1):c.-185T>C SNV Uncertain significance 313473 rs745791461 GRCh37: 14:61116092-61116092
GRCh38: 14:60649374-60649374
12 SIX1 NM_005982.4(SIX1):c.-84C>G SNV Uncertain significance 313468 rs886050572 GRCh37: 14:61115991-61115991
GRCh38: 14:60649273-60649273
13 SIX1 NM_005982.4(SIX1):c.-161G>C SNV Uncertain significance 313471 rs886050573 GRCh37: 14:61116068-61116068
GRCh38: 14:60649350-60649350
14 SIX1 NM_005982.4(SIX1):c.*755T>G SNV Uncertain significance 313452 rs868568764 GRCh37: 14:61112246-61112246
GRCh38: 14:60645528-60645528
15 SIX1 NM_005982.4(SIX1):c.*736T>G SNV Uncertain significance 313453 rs768828257 GRCh37: 14:61112265-61112265
GRCh38: 14:60645547-60645547
16 SIX1 NM_005982.4(SIX1):c.-213C>G SNV Uncertain significance 313474 rs771815597 GRCh37: 14:61116120-61116120
GRCh38: 14:60649402-60649402
17 SIX1 NM_005982.4(SIX1):c.822C>T (p.Pro274=) SNV Uncertain significance 313464 rs368353344 GRCh37: 14:61113034-61113034
GRCh38: 14:60646316-60646316
18 SIX1 NM_005982.4(SIX1):c.*1001T>C SNV Uncertain significance 313447 rs886050568 GRCh37: 14:61112000-61112000
GRCh38: 14:60645282-60645282
19 SIX1 NM_005982.4(SIX1):c.*371A>G SNV Uncertain significance 313458 rs538935374 GRCh37: 14:61112630-61112630
GRCh38: 14:60645912-60645912
20 SIX1 NM_005982.4(SIX1):c.*161C>A SNV Uncertain significance 313463 rs886050571 GRCh37: 14:61112840-61112840
GRCh38: 14:60646122-60646122
21 SIX1 NM_005982.4(SIX1):c.191G>A (p.Arg64His) SNV Uncertain significance 444331 rs1051653507 GRCh37: 14:61115717-61115717
GRCh38: 14:60648999-60648999
22 overlap with 3 genes NC_000014.8:g.(?_60976117)_(61191013_?)dup Duplication Uncertain significance 999901 GRCh37: 14:60976117-61191013
GRCh38:
23 SIX1 NM_005982.4(SIX1):c.*1080A>T SNV Uncertain significance 882090 GRCh37: 14:61111921-61111921
GRCh38: 14:60645203-60645203
24 SIX1 NM_005982.4(SIX1):c.*858C>T SNV Uncertain significance 883235 GRCh37: 14:61112143-61112143
GRCh38: 14:60645425-60645425
25 SIX1 NM_005982.4(SIX1):c.*266C>A SNV Uncertain significance 883288 GRCh37: 14:61112735-61112735
GRCh38: 14:60646017-60646017
26 SIX1 NM_005982.4(SIX1):c.*249A>G SNV Uncertain significance 883289 GRCh37: 14:61112752-61112752
GRCh38: 14:60646034-60646034
27 SIX1 NM_005982.4(SIX1):c.*766T>A SNV Uncertain significance 884035 GRCh37: 14:61112235-61112235
GRCh38: 14:60645517-60645517
28 SIX1 NM_005982.4(SIX1):c.*140C>T SNV Uncertain significance 883290 GRCh37: 14:61112861-61112861
GRCh38: 14:60646143-60646143
29 SIX1 NM_005982.4(SIX1):c.746C>T (p.Pro249Leu) SNV Uncertain significance 884094 GRCh37: 14:61113110-61113110
GRCh38: 14:60646392-60646392
30 SIX1 NM_005982.4(SIX1):c.681C>A (p.Asp227Glu) SNV Uncertain significance 884095 GRCh37: 14:61113175-61113175
GRCh38: 14:60646457-60646457
31 SIX1 NM_005982.4(SIX1):c.679G>T (p.Asp227Tyr) SNV Uncertain significance 633689 rs144481204 GRCh37: 14:61113177-61113177
GRCh38: 14:60646459-60646459
32 SIX1 NM_005982.4(SIX1):c.-213C>T SNV Uncertain significance 884151 GRCh37: 14:61116120-61116120
GRCh38: 14:60649402-60649402
33 SIX1 NM_005982.4(SIX1):c.578A>T (p.Asn193Ile) SNV Likely benign 313465 rs142301715 GRCh37: 14:61113278-61113278
GRCh38: 14:60646560-60646560
34 SIX1 NM_005982.4(SIX1):c.180C>G (p.Arg60=) SNV Likely benign 313466 rs781519092 GRCh37: 14:61115728-61115728
GRCh38: 14:60649010-60649010
35 SIX1 NM_005982.4(SIX1):c.-137C>T SNV Likely benign 313470 rs139621918 GRCh37: 14:61116044-61116044
GRCh38: 14:60649326-60649326
36 SIX1 NM_005982.4(SIX1):c.*443A>G SNV Likely benign 313456 rs186530769 GRCh37: 14:61112558-61112558
GRCh38: 14:60645840-60645840
37 SIX1 NM_005982.4(SIX1):c.*767A>T SNV Likely benign 313449 rs574976629 GRCh37: 14:61112234-61112234
GRCh38: 14:60645516-60645516
38 SIX1 NM_005982.4(SIX1):c.-14G>T SNV Likely benign 313467 rs374228886 GRCh37: 14:61115921-61115921
GRCh38: 14:60649203-60649203
39 SIX1 NM_005982.4(SIX1):c.*1044G>T SNV Likely benign 313445 rs3742637 GRCh37: 14:61111957-61111957
GRCh38: 14:60645239-60645239
40 SIX1 NM_005982.4(SIX1):c.705G>T (p.Gln235His) SNV Likely benign 689601 rs747474509 GRCh37: 14:61113151-61113151
GRCh38: 14:60646433-60646433
41 SIX1 NM_005982.4(SIX1):c.-184A>C SNV Likely benign 313472 rs187402923 GRCh37: 14:61116091-61116091
GRCh38: 14:60649373-60649373
42 SIX1 NM_005982.4(SIX1):c.162G>A (p.Ala54=) SNV Likely benign 227075 rs150550985 GRCh37: 14:61115746-61115746
GRCh38: 14:60649028-60649028
43 SIX1 NM_005982.4(SIX1):c.*1079T>A SNV Likely benign 313444 rs559116477 GRCh37: 14:61111922-61111922
GRCh38: 14:60645204-60645204
44 SIX1 NM_005982.4(SIX1):c.-24C>T SNV Likely benign 882199 GRCh37: 14:61115931-61115931
GRCh38: 14:60649213-60649213
45 SIX1 NM_005982.4(SIX1):c.330G>A (p.Arg110=) SNV Likely benign 497460 rs73309461 GRCh37: 14:61115578-61115578
GRCh38: 14:60648860-60648860
46 SIX1 NM_005982.4(SIX1):c.474C>T (p.Ala158=) SNV Likely benign 466172 rs199743522 GRCh37: 14:61115434-61115434
GRCh38: 14:60648716-60648716
47 SIX1 NM_005982.4(SIX1):c.162G>A (p.Ala54=) SNV Benign 227075 rs150550985 GRCh37: 14:61115746-61115746
GRCh38: 14:60649028-60649028
48 SIX1 NM_005982.4(SIX1):c.-121C>G SNV Benign 313469 rs375002099 GRCh37: 14:61116028-61116028
GRCh38: 14:60649310-60649310
49 SIX1 NM_005982.4(SIX1):c.*602G>C SNV Benign 313454 rs78909843 GRCh37: 14:61112399-61112399
GRCh38: 14:60645681-60645681
50 SIX1 NM_005982.4(SIX1):c.*334C>G SNV Benign 313459 rs10144415 GRCh37: 14:61112667-61112667
GRCh38: 14:60645949-60645949

Expression for Deafness, Autosomal Dominant 23

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 23.

Pathways for Deafness, Autosomal Dominant 23

GO Terms for Deafness, Autosomal Dominant 23

Sources for Deafness, Autosomal Dominant 23

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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