DFNB66
MCID: DFN181
MIFTS: 31

Deafness, Autosomal Recessive 66 (DFNB66)

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

Aliases & Classifications for Deafness, Autosomal Recessive 66

MalaCards integrated aliases for Deafness, Autosomal Recessive 66:

Name: Deafness, Autosomal Recessive 66 57 29 13 6 70
Dfnb66 57 12 72
Autosomal Recessive Nonsyndromic Deafness 66 12 15
Deafness, Autosomal Recessive, Type 66 39
Deafness, Autosomal Recessive, 66 72
Autosomal Recessive Deafness 66 12

Characteristics:

OMIM®:

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

Miscellaneous:
prelingual onset
one consanguineous tunisian family has been reported (last curated june 2015)


HPO:

31
deafness, autosomal recessive 66:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110517
OMIM® 57 610212
OMIM Phenotypic Series 57 PS220290
MeSH 44 D006319
ICD10 32 H90.3
MedGen 41 C1857750
SNOMED-CT via HPO 68 258211005 60700002
UMLS 70 C1857750

Summaries for Deafness, Autosomal Recessive 66

UniProtKB/Swiss-Prot : 72 Deafness, autosomal recessive, 66: A form of non-syndromic sensorineural hearing loss. 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 66, also known as dfnb66, is related to nonsyndromic deafness and deafness, autosomal recessive 67. An important gene associated with Deafness, Autosomal Recessive 66 is DCDC2 (Doublecortin Domain Containing 2). 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 DCDC2 gene on chromosome 6p22.

More information from OMIM: 610212 PS220290

Related Diseases for Deafness, Autosomal Recessive 66

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 66 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
# Related Disease Score Top Affiliating Genes
1 nonsyndromic deafness 30.2 DCDC2 COL11A2
2 deafness, autosomal recessive 67 29.8 LHFPL5 LHFPL3
3 nonsyndromic hearing loss 29.7 LHFPL5 DCDC2 COL11A2 CEACAM16
4 rare genetic deafness 29.0 STRC OTOA COL11A2 CEACAM16
5 autosomal recessive non-syndromic sensorineural deafness type dfnb 28.4 STRC PTPRQ OTOA LHFPL5 DCDC2 COL11A2
6 dyslexia 2 10.2 KAAG1 DCDC2
7 sclerosing cholangitis, neonatal 10.2 KAAG1 DCDC2
8 sclerosing cholangitis 10.2 KAAG1 DCDC2
9 deafness, autosomal recessive 6 10.2 OTOA LHFPL5
10 senior-boichis syndrome 10.2 KAAG1 DCDC2
11 deafness, autosomal recessive 85 10.1 OTOA LHFPL5
12 nephronophthisis 19 10.1 KAAG1 DCDC2
13 deafness, autosomal recessive 83 10.1 OTOA LHFPL5
14 branchiootic syndrome 1 10.1
15 deafness, autosomal recessive 63 10.0 OTOA LHFPL5
16 reading disorder 10.0 KAAG1 DCDC2
17 deafness, autosomal recessive 61 10.0 PTPRQ OTOA
18 otospondylomegaepiphyseal dysplasia, autosomal dominant 10.0 COL11A2 CEACAM16
19 band heterotopia 10.0 DCDC2B DCDC2
20 deafness, autosomal recessive 10.0 PTPRQ OTOA LHFPL5
21 deafness, autosomal recessive 53 9.9 LHFPL5 COL11A2 CEACAM16
22 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
23 deafness, autosomal dominant 3b 9.9 OTOA LHFPL5 CEACAM16
24 deafness, autosomal recessive 21 9.9 OTOA COL11A2 CEACAM16
25 autosomal recessive nonsyndromic deafness 9.8 STRC LHFPL5
26 deafness, autosomal recessive 1b 9.8 STRC CEACAM16
27 deafness, autosomal recessive 1a 9.7 STRC OTOA
28 usher syndrome, type i 9.7 STRC PTPRQ LHFPL5
29 usher syndrome, type id 9.7 STRC PTPRQ LHFPL5
30 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.7 STRC OTOA COL11A2
31 deafness, autosomal recessive 39 9.7 STRC PTPRQ OTOA
32 deafness, autosomal recessive 84b 9.6 STRC COL11A2 CEACAM16
33 usher syndrome, type iia 9.5 STRC OTOA
34 deafness, autosomal recessive 22 9.5 STRC PTPRQ OTOA LHFPL5
35 deafness, autosomal recessive 16 9.5 STRC PTPRQ OTOA LHFPL5
36 usher syndrome type 2 9.5 STRC PTPRQ OTOA LHFPL5
37 deafness, autosomal dominant 12 9.4 STRC OTOA COL11A2 CEACAM16
38 usher syndrome 9.3 STRC PTPRQ OTOA LHFPL5 COL11A2
39 auditory system disease 9.3 STRC OTOA LHFPL5 COL11A2 CEACAM16
40 deafness, autosomal recessive 12 9.2 STRC PTPRQ OTOA LHFPL5 CEACAM16
41 autosomal dominant non-syndromic sensorineural deafness type dfna 9.2 STRC PTPRQ LHFPL5 COL11A2 CEACAM16
42 autosomal dominant nonsyndromic deafness 9.0 STRC PTPRQ OTOA LHFPL5 COL11A2 CEACAM16
43 sensorineural hearing loss 9.0 STRC PTPRQ OTOA LHFPL5 COL11A2 CEACAM16

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 66:



Diseases related to Deafness, Autosomal Recessive 66

Symptoms & Phenotypes for Deafness, Autosomal Recessive 66

Human phenotypes related to Deafness, Autosomal Recessive 66:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Ears:
hearing loss, sensorineural, profound

Clinical features from OMIM®:

610212 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 66:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.1 CEACAM16 COL11A2 LHFPL5 OTOA PTPRQ STRC

Drugs & Therapeutics for Deafness, Autosomal Recessive 66

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 66

Genetic Tests for Deafness, Autosomal Recessive 66

Genetic tests related to Deafness, Autosomal Recessive 66:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 66 29 DCDC2

Anatomical Context for Deafness, Autosomal Recessive 66

Publications for Deafness, Autosomal Recessive 66

Articles related to Deafness, Autosomal Recessive 66:

# Title Authors PMID Year
1
A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation. 6 57 61
25601850 2015
2
A novel autosomal recessive non-syndromic deafness locus, DFNB66, maps to chromosome 6p21.2-22.3 in a large Tunisian consanguineous family. 61 6 57
16244493 2005
3
Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis. 6
27469900 2016
4
DFNB66 and DFNB67 loci are non allelic and rarely contribute to autosomal recessive nonsyndromic hearing loss. 61
21816241 2011
5
Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss. 61
16752389 2006

Variations for Deafness, Autosomal Recessive 66

ClinVar genetic disease variations for Deafness, Autosomal Recessive 66:

6 (show all 30)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DCDC2 NM_016356.5(DCDC2):c.529dup (p.Ile177fs) Duplication Pathogenic 417769 rs904944428 GRCh37: 6:24301970-24301971
GRCh38: 6:24301742-24301743
2 DCDC2 NM_016356.5(DCDC2):c.1271A>C (p.Gln424Pro) SNV Pathogenic 161160 rs794729665 GRCh37: 6:24178613-24178613
GRCh38: 6:24178385-24178385
3 DCDC2 NM_016356.5(DCDC2):c.639_640dup (p.Lys214fs) Duplication Pathogenic 1033409 GRCh37: 6:24291223-24291224
GRCh38: 6:24290995-24290996
4 DCDC2 NM_016356.5(DCDC2):c.549dup (p.Val184fs) Duplication Likely pathogenic 804454 rs1581640646 GRCh37: 6:24301950-24301951
GRCh38: 6:24301722-24301723
5 DCDC2 NM_016356.5(DCDC2):c.829A>T (p.Lys277Ter) SNV Likely pathogenic 802191 rs775868003 GRCh37: 6:24278370-24278370
GRCh38: 6:24278142-24278142
6 DCDC2 NM_016356.5(DCDC2):c.785C>T (p.Thr262Ile) SNV Uncertain significance 654576 rs200534758 GRCh37: 6:24278414-24278414
GRCh38: 6:24278186-24278186
7 DCDC2 NM_016356.5(DCDC2):c.1154C>T (p.Pro385Leu) SNV Uncertain significance 660101 rs773020868 GRCh37: 6:24178730-24178730
GRCh38: 6:24178502-24178502
8 DCDC2 NM_016356.5(DCDC2):c.349G>A (p.Val117Ile) SNV Uncertain significance 838322 GRCh37: 6:24302272-24302272
GRCh38: 6:24302044-24302044
9 DCDC2 NM_016356.5(DCDC2):c.1076A>T (p.Asp359Val) SNV Uncertain significance 850513 GRCh37: 6:24178808-24178808
GRCh38: 6:24178580-24178580
10 DCDC2 NM_016356.5(DCDC2):c.970G>T (p.Ala324Ser) SNV Uncertain significance 862889 GRCh37: 6:24205283-24205283
GRCh38: 6:24205055-24205055
11 DCDC2 NM_016356.5(DCDC2):c.929G>C (p.Gly310Ala) SNV Uncertain significance 582505 rs746447569 GRCh37: 6:24205324-24205324
GRCh38: 6:24205096-24205096
12 DCDC2 NM_016356.5(DCDC2):c.1199G>A (p.Arg400His) SNV Uncertain significance 593218 rs771591530 GRCh37: 6:24178685-24178685
GRCh38: 6:24178457-24178457
13 DCDC2 NM_016356.5(DCDC2):c.685A>G (p.Thr229Ala) SNV Uncertain significance 1035839 GRCh37: 6:24291179-24291179
GRCh38: 6:24290951-24290951
14 DCDC2 NM_016356.5(DCDC2):c.728C>G (p.Pro243Arg) SNV Uncertain significance 942438 GRCh37: 6:24289111-24289111
GRCh38: 6:24288883-24288883
15 DCDC2 , KAAG1 NM_016356.5(DCDC2):c.278C>A (p.Ala93Asp) SNV Uncertain significance 1033408 GRCh37: 6:24357701-24357701
GRCh38: 6:24357473-24357473
16 DCDC2 NM_016356.5(DCDC2):c.355C>T (p.Pro119Ser) SNV Uncertain significance 466325 rs1056029060 GRCh37: 6:24302266-24302266
GRCh38: 6:24302038-24302038
17 DCDC2 NM_016356.5(DCDC2):c.715T>G (p.Ser239Ala) SNV Likely benign 594128 rs144695853 GRCh37: 6:24289124-24289124
GRCh38: 6:24288896-24288896
18 DCDC2 NM_016356.5(DCDC2):c.349-9C>G SNV Likely benign 595384 rs765613994 GRCh37: 6:24302281-24302281
GRCh38: 6:24302053-24302053
19 DCDC2 NM_016356.5(DCDC2):c.543C>A (p.Ser181Arg) SNV Likely benign 594123 rs141060456 GRCh37: 6:24301957-24301957
GRCh38: 6:24301729-24301729
20 DCDC2 , KAAG1 NM_016356.5(DCDC2):c.222C>A (p.Ile74=) SNV Likely benign 502350 rs138670560 GRCh37: 6:24357757-24357757
GRCh38: 6:24357529-24357529
21 DCDC2 NM_016356.5(DCDC2):c.543C>T (p.Ser181=) SNV Likely benign 595441 rs141060456 GRCh37: 6:24301957-24301957
GRCh38: 6:24301729-24301729
22 DCDC2 , KAAG1 NM_016356.5(DCDC2):c.68G>T (p.Arg23Leu) SNV Likely benign 575006 rs745333409 GRCh37: 6:24357911-24357911
GRCh38: 6:24357683-24357683
23 DCDC2 NM_016356.5(DCDC2):c.1208G>A (p.Arg403His) SNV Likely benign 466322 rs139858268 GRCh37: 6:24178676-24178676
GRCh38: 6:24178448-24178448
24 DCDC2 NM_016356.5(DCDC2):c.750T>G (p.Ser250=) SNV Likely benign 767488 rs372157851 GRCh37: 6:24289089-24289089
GRCh38: 6:24288861-24288861
25 DCDC2 , KAAG1 NM_016356.5(DCDC2):c.183C>T (p.Ala61=) SNV Benign 466323 rs33943110 GRCh37: 6:24357796-24357796
GRCh38: 6:24357568-24357568
26 DCDC2 NM_016356.5(DCDC2):c.454C>G (p.Pro152Ala) SNV Benign 466326 rs33914824 GRCh37: 6:24302046-24302046
GRCh38: 6:24301818-24301818
27 DCDC2 NM_016356.5(DCDC2):c.294-21GTTT[2] Microsatellite Benign 466324 rs374485384 GRCh37: 6:24353861-24353864
GRCh38: 6:24353633-24353636
28 DCDC2 NM_016356.5(DCDC2):c.478A>C (p.Arg160=) SNV Benign 514414 rs201204772 GRCh37: 6:24302022-24302022
GRCh38: 6:24301794-24301794
29 DCDC2 NM_016356.5(DCDC2):c.855A>G (p.Ser285=) SNV Benign 466327 rs141519329 GRCh37: 6:24278344-24278344
GRCh38: 6:24278116-24278116
30 DCDC2 NM_016356.5(DCDC2):c.1044C>T (p.Asp348=) SNV Benign 466321 rs143313706 GRCh37: 6:24178840-24178840
GRCh38: 6:24178612-24178612

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 66:

72
# Symbol AA change Variation ID SNP ID
1 DCDC2 p.Gln424Pro VAR_074667 rs794729665

Expression for Deafness, Autosomal Recessive 66

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 66.

Pathways for Deafness, Autosomal Recessive 66

GO Terms for Deafness, Autosomal Recessive 66

Cellular components related to Deafness, Autosomal Recessive 66 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cortical actin cytoskeleton GO:0030864 9.26 DCDC2B DCDC2
2 stereocilium bundle GO:0032421 9.16 PTPRQ LHFPL5
3 kinocilium GO:0060091 8.96 STRC DCDC2
4 stereocilium tip GO:0032426 8.8 STRC LHFPL5 CEACAM16

Biological processes related to Deafness, Autosomal Recessive 66 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen fibril organization GO:0030199 9.26 PTPRQ COL11A2
2 sensory perception of sound GO:0007605 9.17 STRC OTOA LHFPL5 LHFPL3 DCDC2 COL11A2
3 auditory receptor cell stereocilium organization GO:0060088 9.16 STRC LHFPL5
4 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.13 STRC PTPRQ LHFPL5

Sources for Deafness, Autosomal Recessive 66

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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