OODD
MCID: ODN009
MIFTS: 35

Odontoonychodermal Dysplasia (OODD)

Categories: Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases, Smell/Taste diseases

Aliases & Classifications for Odontoonychodermal Dysplasia

MalaCards integrated aliases for Odontoonychodermal Dysplasia:

Name: Odontoonychodermal Dysplasia 57 20 36 13 70
Odonto-Onycho-Dermal Dysplasia 58 72 29 6
Oodd 57 58 72
Tricho-Odonto-Onycho-Dermal Dysplasia 72
Dysplasia, Odontoonychodermal 39

Characteristics:

Orphanet epidemiological data:

58
odonto-onycho-dermal dysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM®:

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


HPO:

31
odontoonychodermal dysplasia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


External Ids:

OMIM® 57 257980
KEGG 36 H00646
MeSH 44 D004476
MESH via Orphanet 45 C537742
ICD10 via Orphanet 33 Q82.4
UMLS via Orphanet 71 C0796093 C1275074
Orphanet 58 ORPHA2721
MedGen 41 C0796093
UMLS 70 C0796093

Summaries for Odontoonychodermal Dysplasia

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2721 Definition Odonto-onycho-dermal dysplasia is a form of ectodermal dysplasia characterised by hyperkeratosis and hyperhidrosis of the palms and soles, atrophic malar patches, hypodontia, conical teeth, onychodysplasia, and dry and sparse hair. Epidemiology Less than 15 cases have been described so far. Etiology Homozygous mutations have been described in the WNT10A gene in six patients born to three consanguineous families. Genetic counseling Transmission is autosomal recessive.

MalaCards based summary : Odontoonychodermal Dysplasia, also known as odonto-onycho-dermal dysplasia, is related to tooth agenesis and tooth agenesis, selective, 4. An important gene associated with Odontoonychodermal Dysplasia is WNT10A (Wnt Family Member 10A), and among its related pathways/superpathways are Wnt signaling pathway and Hedgehog signaling pathway. Affiliated tissues include tongue, and related phenotypes are hyperhidrosis and photophobia

OMIM® : 57 Odontoonychodermal dysplasia (OODD) is an autosomal recessive disorder characterized by dry hair, severe hypodontia, smooth tongue with marked reduction of fungiform and filiform papillae, onychodysplasia, keratoderma and hyperhidrosis of palms and soles, and hyperkeratosis of the skin (summary by Adaimy et al., 2007). (257980) (Updated 05-Apr-2021)

KEGG : 36 Odontoonychodermal dysplasia is a rare autosomal recessive ectodermal dysplasia that presents dry hair, severe hypodontia, smooth tongue, onychodysplasia, and keratoderma of palms and soles.

UniProtKB/Swiss-Prot : 72 Odonto-onycho-dermal dysplasia: A rare autosomal recessive ectodermal dysplasia characterized by dry hair, severe hypodontia, smooth tongue with marked reduction of fungiform and filiform papillae, onychodysplasia, keratoderma and hyperhidrosis of palms and soles, and hyperkeratosis of the skin.

Related Diseases for Odontoonychodermal Dysplasia

Diseases related to Odontoonychodermal Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 tooth agenesis 10.6
2 tooth agenesis, selective, 4 10.6
3 keratosis 10.6
4 hypotrichosis 10.4
5 keratitis, hereditary 10.3
6 schopf-schulz-passarge syndrome 10.3
7 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 10.3
8 nail disorder, nonsyndromic congenital, 9 10.3
9 ifap syndrome 2 10.3
10 exanthem 10.3
11 autosomal recessive congenital ichthyosis 10.3
12 anodontia 10.3
13 palmoplantar keratosis 10.3
14 blepharitis 10.3
15 ectodermal dysplasia 10.1

Graphical network of the top 20 diseases related to Odontoonychodermal Dysplasia:



Diseases related to Odontoonychodermal Dysplasia

Symptoms & Phenotypes for Odontoonychodermal Dysplasia

Human phenotypes related to Odontoonychodermal Dysplasia:

31 (show all 25)
# Description HPO Frequency HPO Source Accession
1 hyperhidrosis 31 very rare (1%) HP:0000975
2 photophobia 31 very rare (1%) HP:0000613
3 dry skin 31 very rare (1%) HP:0000958
4 hypohidrosis 31 very rare (1%) HP:0000966
5 sparse scalp hair 31 very rare (1%) HP:0002209
6 sparse body hair 31 very rare (1%) HP:0002231
7 dystrophic toenail 31 very rare (1%) HP:0001810
8 plantar hyperkeratosis 31 very rare (1%) HP:0007556
9 agenesis of permanent teeth 31 very rare (1%) HP:0006349
10 abnormality of primary teeth 31 very rare (1%) HP:0006481
11 sparse and thin eyebrow 31 very rare (1%) HP:0000535
12 fine hair 31 HP:0002213
13 hypodontia 31 HP:0000668
14 erythema 31 HP:0010783
15 nail dysplasia 31 HP:0002164
16 sparse hair 31 HP:0008070
17 dystrophic fingernails 31 HP:0008391
18 anonychia 31 HP:0001798
19 dry hair 31 HP:0011359
20 smooth tongue 31 HP:0010298
21 epidermal acanthosis 31 HP:0025092
22 palmoplantar hyperhidrosis 31 HP:0007410
23 hypergranulosis 31 HP:0025114
24 keratosis pilaris 31 HP:0032152
25 orthokeratosis 31 HP:0040162

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skin Nails Hair Skin:
hyperkeratosis
keratosis pilaris
hyperhidrosis (palms and soles)
palmar erythema
keratoderma (palms and soles)

Head And Neck Mouth:
smooth tongue
reduced fungiform papillae
reduced filiform papillae

Skin Nails Hair Nails:
dystrophic toenails
dystrophic fingernails (onychodysplasia)
congenital absence of nails (anonychia)

Skin Nails Hair Skin Histology:
orthokeratosis in epidermis
hyperkeratosis in epidermis
hypergranulosis in epidermis
acanthosis, mild, in epidermis

Skin Nails Hair Hair:
dry hair
sparse eyebrows
thin hair
hair is absent at birth
longitudinal depressions on microscopic examination

Head And Neck Eyes:
sparse eyebrows

Head And Neck Teeth:
severe hypodontia

Clinical features from OMIM®:

257980 (Updated 05-Apr-2021)

Drugs & Therapeutics for Odontoonychodermal Dysplasia

Search Clinical Trials , NIH Clinical Center for Odontoonychodermal Dysplasia

Genetic Tests for Odontoonychodermal Dysplasia

Genetic tests related to Odontoonychodermal Dysplasia:

# Genetic test Affiliating Genes
1 Odonto-Onycho-Dermal Dysplasia 29

Anatomical Context for Odontoonychodermal Dysplasia

MalaCards organs/tissues related to Odontoonychodermal Dysplasia:

40
Tongue

Publications for Odontoonychodermal Dysplasia

Articles related to Odontoonychodermal Dysplasia:

(show all 38)
# Title Authors PMID Year
1
Distinct impacts of bi-allelic WNT10A mutations on the permanent and primary dentitions in odonto-onycho-dermal dysplasia. 57 6 61
30569517 2019
2
WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes. 57 6 61
19559398 2009
3
WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation. 57 6
28589954 2017
4
Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia. 6 57
17847007 2007
5
Variability in dentofacial phenotypes in four families with WNT10A mutations. 6 61
24398796 2014
6
Tricho-odonto-onycho-dermal dysplasia and WNT10A mutations. 6 61
24458874 2014
7
Mutations in WNT10A are present in more than half of isolated hypodontia cases. 6 61
22581971 2012
8
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. 6 61
20979233 2011
9
WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome. 61 6
19471313 2009
10
Variant of odontoonychodermal dysplasia? 61 57
8588594 1995
11
Odontoonychodermal dysplasia: a previously apparently undescribed ectodermal dysplasia. 61 57
6837628 1983
12
Turkish Ectodermal Dysplasia Cohort: From Phenotype to Genotype in 17 Families. 6
30974434 2019
13
Rare and Common Variants Conferring Risk of Tooth Agenesis. 6
29364747 2018
14
WNT10A gene is the second molecular candidate in a cohort of young Italian subjects with ectodermal derivative impairment (EDI). 6
28976000 2018
15
Dental and extra-oral clinical features in 41 patients with WNT10A gene mutations: A multicentric genotype-phenotype study. 6
28105635 2017
16
Novel EDA or EDAR Mutations Identified in Patients with X-Linked Hypohidrotic Ectodermal Dysplasia or Non-Syndromic Tooth Agenesis. 6
28981473 2017
17
Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation. 6
28166811 2017
18
WNT10A coding variants and maxillary lateral incisor agenesis with associated dental anomalies. 6
25545742 2015
19
Taurodontism, variations in tooth number, and misshapened crowns in Wnt10a null mice and human kindreds. 6
25629078 2015
20
Clinical features and WNT10A mutations in seven unrelated cases of Schöpf-Schulz-Passarge syndrome. 6
24902757 2014
21
Dento-maxillo-facial phenotype and implants-based oral rehabilitation in Ectodermal Dysplasia with WNT10A gene mutation: report of a case and literature review. 6
24702986 2014
22
WNT10A mutations also associated with agenesis of the maxillary permanent canines, a separate entity. 6
24311251 2014
23
WNT10A mutations account for ¼ of population-based isolated oligodontia and show phenotypic correlations. 6
24449199 2014
24
Nucleotide variants of genes encoding components of the Wnt signalling pathway and the risk of non-syndromic tooth agenesis. 6
23167694 2013
25
Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia. 6
23401279 2013
26
Late diagnosis of ectodermal dysplasia syndrome. 6
22670871 2013
27
Candidate gene analysis of tooth agenesis identifies novel mutations in six genes and suggests significant role for WNT and EDA signaling and allele combinations. 6
23991204 2013
28
WNT10A and isolated hypodontia. 6
21484994 2011
29
Two families confirm Schöpf-Schulz-Passarge syndrome as a discrete entity within the WNT10A phenotypic spectrum. 6
21143469 2011
30
Phenotypic variability associated with WNT10A nonsense mutations. 6
20163410 2010
31
Splicing in action: assessing disease causing sequence changes. 6
16199547 2005
32
Further delineation of the odonto-onycho-dermal dysplasia syndrome. 57
15316967 2004
33
Odonto-onycho-dermal dysplasia. 57
8555039 1995
34
Odonto-onycho-dermal dysplasia in a patient homozygous for a WNT10A nonsense mutation and mild manifestations of ectodermal dysplasia in carriers of the mutation. 61
26964878 2016
35
Characterization of medium chain length polyhydroxyalkanoate produced from olive oil deodorizer distillate. 61
26484598 2016
36
[WNT 10A-mutations as explanation for tooth agenesis]. 61
26188476 2014
37
The WNT10A gene in ectodermal dysplasias and selective tooth agenesis. 61
24700731 2014
38
Involvement of and interaction between WNT10A and EDA mutations in tooth agenesis cases in the Chinese population. 61
24312213 2013

Variations for Odontoonychodermal Dysplasia

ClinVar genetic disease variations for Odontoonychodermal Dysplasia:

6 (show top 50) (show all 168)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WNT10A NM_025216.3(WNT10A):c.1128C>A (p.Cys376Ter) SNV Pathogenic 4464 rs121908122 GRCh37: 2:219757867-219757867
GRCh38: 2:218893145-218893145
2 WNT10A NM_025216.3(WNT10A):c.27G>A (p.Trp9Ter) SNV Pathogenic 4465 rs121908123 GRCh37: 2:219745744-219745744
GRCh38: 2:218881022-218881022
3 WNT10A NM_025216.3(WNT10A):c.697G>T (p.Glu233Ter) SNV Pathogenic 4460 rs121908118 GRCh37: 2:219755026-219755026
GRCh38: 2:218890304-218890304
4 WNT10A NC_000002.12:g.(?_218880976)_(218893291_?)del Deletion Pathogenic 464177 GRCh37: 2:219745698-219758013
GRCh38: 2:218880976-218893291
5 WNT10A NM_025216.3(WNT10A):c.1176C>A (p.Cys392Ter) SNV Pathogenic 559391 rs1553623389 GRCh37: 2:219757915-219757915
GRCh38: 2:218893193-218893193
6 WNT10A NM_025216.3(WNT10A):c.898_899del (p.Ile300fs) Deletion Pathogenic 559392 rs1553623281 GRCh37: 2:219757637-219757638
GRCh38: 2:218892915-218892916
7 WNT10A NM_025216.3(WNT10A):c.826T>A (p.Cys276Ser) SNV Pathogenic 559393 rs1011303295 GRCh37: 2:219757565-219757565
GRCh38: 2:218892843-218892843
8 WNT10A NM_025216.3(WNT10A):c.949del (p.Ala317fs) Deletion Pathogenic 559394 rs775990266 GRCh37: 2:219757684-219757684
GRCh38: 2:218892962-218892962
9 WNT10A NM_025216.3(WNT10A):c.310C>T (p.Arg104Cys) SNV Pathogenic 532827 rs764658964 GRCh37: 2:219747079-219747079
GRCh38: 2:218882357-218882357
10 WNT10A NM_025216.3(WNT10A):c.694del (p.Arg232fs) Deletion Pathogenic 639357 rs1575233692 GRCh37: 2:219755021-219755021
GRCh38: 2:218890299-218890299
11 WNT10A NM_025216.3(WNT10A):c.949dup (p.Ala317fs) Duplication Pathogenic 661181 rs775990266 GRCh37: 2:219757683-219757684
GRCh38: 2:218892961-218892962
12 WNT10A NM_025216.3(WNT10A):c.383G>A (p.Arg128Gln) SNV Pathogenic 4463 rs121908121 GRCh37: 2:219754712-219754712
GRCh38: 2:218889990-218889990
13 WNT10A NM_025216.3(WNT10A):c.814C>T (p.Gln272Ter) SNV Pathogenic 841749 GRCh37: 2:219757553-219757553
GRCh38: 2:218892831-218892831
14 WNT10A NM_025216.3(WNT10A):c.717del (p.His239fs) Deletion Pathogenic 841780 GRCh37: 2:219755046-219755046
GRCh38: 2:218890324-218890324
15 WNT10A NM_025216.3(WNT10A):c.909_916del (p.His303fs) Deletion Pathogenic 844473 GRCh37: 2:219757643-219757650
GRCh38: 2:218892921-218892928
16 WNT10A NM_025216.3(WNT10A):c.756+1G>A SNV Pathogenic 929490 GRCh37: 2:219755086-219755086
GRCh38: 2:218890364-218890364
17 WNT10A NM_025216.3(WNT10A):c.664G>T (p.Glu222Ter) SNV Pathogenic 935681 GRCh37: 2:219754993-219754993
GRCh38: 2:218890271-218890271
18 WNT10A NM_025216.3(WNT10A):c.632G>A (p.Trp211Ter) SNV Pathogenic 942039 GRCh37: 2:219754961-219754961
GRCh38: 2:218890239-218890239
19 WNT10A NM_025216.3(WNT10A):c.830G>A (p.Trp277Ter) SNV Pathogenic 955942 GRCh37: 2:219757569-219757569
GRCh38: 2:218892847-218892847
20 WNT10A NM_025216.3(WNT10A):c.1165_1178delinsTTCCAGCACAACATC (p.Ser389fs) Indel Pathogenic 966598 GRCh37: 2:219757904-219757917
GRCh38: 2:218893182-218893195
21 WNT10A NM_025216.3(WNT10A):c.376+1G>A SNV Pathogenic 936775 GRCh37: 2:219747146-219747146
GRCh38: 2:218882424-218882424
22 WNT10A NM_025216.3(WNT10A):c.1199G>A (p.Cys400Tyr) SNV Pathogenic 807721 rs1575235227 GRCh37: 2:219757938-219757938
GRCh38: 2:218893216-218893216
23 WNT10A NM_025216.3(WNT10A):c.311G>A (p.Arg104His) SNV Pathogenic 633837 rs374910216 GRCh37: 2:219747080-219747080
GRCh38: 2:218882358-218882358
24 WNT10A NM_025216.3(WNT10A):c.391G>A (p.Ala131Thr) SNV Pathogenic 265292 rs372993798 GRCh37: 2:219754720-219754720
GRCh38: 2:218889998-218889998
25 WNT10A NM_025216.3(WNT10A):c.742C>T (p.Arg248Ter) SNV Pathogenic 265293 rs886039453 GRCh37: 2:219755071-219755071
GRCh38: 2:218890349-218890349
26 WNT10A NM_025216.3(WNT10A):c.382C>T (p.Arg128Ter) SNV Pathogenic 464181 rs762739726 GRCh37: 2:219754711-219754711
GRCh38: 2:218889989-218889989
27 WNT10A NM_025216.3(WNT10A):c.742C>T (p.Arg248Ter) SNV Pathogenic 265293 rs886039453 GRCh37: 2:219755071-219755071
GRCh38: 2:218890349-218890349
28 WNT10A NM_025216.3(WNT10A):c.1168G>T (p.Glu390Ter) SNV Pathogenic 378862 rs750260671 GRCh37: 2:219757907-219757907
GRCh38: 2:218893185-218893185
29 WNT10A NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter) SNV Pathogenic 4461 rs121908119 GRCh37: 2:219747090-219747090
GRCh38: 2:218882368-218882368
30 WNT10A NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter) SNV Pathogenic 4461 rs121908119 GRCh37: 2:219747090-219747090
GRCh38: 2:218882368-218882368
31 WNT10A NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) SNV Pathogenic 4462 rs121908120 GRCh37: 2:219755011-219755011
GRCh38: 2:218890289-218890289
32 WNT10A NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter) SNV Pathogenic 4461 rs121908119 GRCh37: 2:219747090-219747090
GRCh38: 2:218882368-218882368
33 WNT10A NM_025216.3(WNT10A):c.382C>T (p.Arg128Ter) SNV Likely pathogenic 464181 rs762739726 GRCh37: 2:219754711-219754711
GRCh38: 2:218889989-218889989
34 WNT10A NM_025216.3(WNT10A):c.1079G>C (p.Arg360Pro) SNV Likely pathogenic 862602 GRCh37: 2:219757818-219757818
GRCh38: 2:218893096-218893096
35 WNT10A NM_025216.3(WNT10A):c.616C>T (p.Gln206Ter) SNV Likely pathogenic 417898 rs1060499588 GRCh37: 2:219754945-219754945
GRCh38: 2:218890223-218890223
36 WNT10A NM_025216.3(WNT10A):c.383G>A (p.Arg128Gln) SNV Likely pathogenic 4463 rs121908121 GRCh37: 2:219754712-219754712
GRCh38: 2:218889990-218889990
37 WNT10A NM_025216.3(WNT10A):c.637G>A (p.Gly213Ser) SNV Conflicting interpretations of pathogenicity 139576 rs147680216 GRCh37: 2:219754966-219754966
GRCh38: 2:218890244-218890244
38 WNT10A NM_025216.3(WNT10A):c.511C>T (p.Arg171Cys) SNV Conflicting interpretations of pathogenicity 225515 rs116998555 GRCh37: 2:219754840-219754840
GRCh38: 2:218890118-218890118
39 WNT10A NM_025216.3(WNT10A):c.511C>T (p.Arg171Cys) SNV Conflicting interpretations of pathogenicity 225515 rs116998555 GRCh37: 2:219754840-219754840
GRCh38: 2:218890118-218890118
40 WNT10A NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) SNV Conflicting interpretations of pathogenicity 4462 rs121908120 GRCh37: 2:219755011-219755011
GRCh38: 2:218890289-218890289
41 WNT10A NM_025216.3(WNT10A):c.487C>T (p.Arg163Trp) SNV Uncertain significance 189351 rs368280129 GRCh37: 2:219754816-219754816
GRCh38: 2:218890094-218890094
42 WNT10A NM_025216.3(WNT10A):c.519G>T (p.Lys173Asn) SNV Uncertain significance 1042413 GRCh37: 2:219754848-219754848
GRCh38: 2:218890126-218890126
43 WNT10A NM_025216.3(WNT10A):c.1087A>C (p.Asn363His) SNV Uncertain significance 334414 rs34972707 GRCh37: 2:219757826-219757826
GRCh38: 2:218893104-218893104
44 WNT10A NM_025216.3(WNT10A):c.427C>T (p.His143Tyr) SNV Uncertain significance 972612 GRCh37: 2:219754756-219754756
GRCh38: 2:218890034-218890034
45 WNT10A NM_025216.3(WNT10A):c.796G>A (p.Gly266Ser) SNV Uncertain significance 965475 GRCh37: 2:219757535-219757535
GRCh38: 2:218892813-218892813
46 WNT10A NM_025216.3(WNT10A):c.1124T>G (p.Met375Arg) SNV Uncertain significance 947689 GRCh37: 2:219757863-219757863
GRCh38: 2:218893141-218893141
47 WNT10A NM_025216.3(WNT10A):c.1114T>G (p.Cys372Gly) SNV Uncertain significance 950198 GRCh37: 2:219757853-219757853
GRCh38: 2:218893131-218893131
48 WNT10A NM_025216.3(WNT10A):c.487C>T (p.Arg163Trp) SNV Uncertain significance 189351 rs368280129 GRCh37: 2:219754816-219754816
GRCh38: 2:218890094-218890094
49 WNT10A NM_025216.3(WNT10A):c.791G>T (p.Cys264Phe) SNV Uncertain significance 861837 GRCh37: 2:219757530-219757530
GRCh38: 2:218892808-218892808
50 WNT10A NM_025216.3(WNT10A):c.661G>A (p.Gly221Arg) SNV Uncertain significance 427045 rs775380022 GRCh37: 2:219754990-219754990
GRCh38: 2:218890268-218890268

UniProtKB/Swiss-Prot genetic disease variations for Odontoonychodermal Dysplasia:

72
# Symbol AA change Variation ID SNP ID
1 WNT10A p.Arg128Gln VAR_062510 rs121908121
2 WNT10A p.Phe228Ile VAR_062511 rs121908120
3 WNT10A p.Ala131Val VAR_077448

Expression for Odontoonychodermal Dysplasia

Search GEO for disease gene expression data for Odontoonychodermal Dysplasia.

Pathways for Odontoonychodermal Dysplasia

Pathways related to Odontoonychodermal Dysplasia according to KEGG:

36
# Name Kegg Source Accession
1 Wnt signaling pathway hsa04310
2 Hedgehog signaling pathway hsa04340
3 Melanogenesis hsa04916
4 Pathways in cancer hsa05200

GO Terms for Odontoonychodermal Dysplasia

Sources for Odontoonychodermal Dysplasia

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
Content
Loading form....