MCID: KRT028
MIFTS: 32

Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant

Categories: Genetic diseases, Skin diseases, Ear diseases

Aliases & Classifications for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant

MalaCards integrated aliases for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant:

Name: Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant 57 29 6 40
Keratitis-Ichthyosis-Deafness Syndrome 57 25 75 37 13 6 73
Kid Syndrome 25 75
Ichthyosiform Erythroderma, Corneal Involvement, and Deafness 25
Autosomal Dominant Keratitis-Ichthyosis-Deafness Syndrome 12
Keratitis, Ichthyosis, and Deafness 25
Kid Syndrome, Autosomal Dominant 57
Autosomal Dominant Kid Syndrome 12
Senter Syndrome 73

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
kid is an acronym of keratitis, ichthyosis, deafness
hid (hystrix-like ichthyosis with deafness, ) is identical to kid at the molecular level
onset - present at birth


HPO:

32
keratitis-ichthyosis-deafness syndrome, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant

UniProtKB/Swiss-Prot : 75 Keratitis-ichthyosis-deafness syndrome: An autosomal dominant form of ectodermal dysplasia. Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Keratitis- ichthyosis-deafness syndrome is characterized by the association of hyperkeratotic skin lesions with vascularizing keratitis and profound sensorineural hearing loss. Clinical features include deafness, ichthyosis, photophobia, absent or decreased eyebrows, sparse or absent scalp hair, decreased sweating and dysplastic finger and toenails.

MalaCards based summary : Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant, also known as keratitis-ichthyosis-deafness syndrome, is related to ichthyosiform erythroderma, corneal involvement, and deafness and kid syndrome, and has symptoms including photophobia An important gene associated with Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant is GJB2 (Gap Junction Protein Beta 2). Affiliated tissues include skin, eye and tongue, and related phenotypes are sensorineural hearing impairment and ichthyosis

Genetics Home Reference : 25 Keratitis-ichthyosis-deafness (KID) syndrome is characterized by eye problems, skin abnormalities, and hearing loss.

Disease Ontology : 12 An autosomal dominant disease characterized by congenital deafness, keratopachydermia and constrictions of fingers and toes that has material basis in heterozygous mutation in the GJB2 gene on chromosome 13q.

Description from OMIM: 148210

Related Diseases for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant

Diseases related to Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ichthyosiform erythroderma, corneal involvement, and deafness 12.5
2 kid syndrome 11.4

Symptoms & Phenotypes for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
blindness
photophobia
keratoconjunctivitis sicca
trichiasis
corneal ulceration
more
Head And Neck Mouth:
oral leukoplakia
scrotal tongue

Head And Neck Ears:
sensorineural deafness

Skin Nails Hair Hair:
scant eyebrows
scant eyelashes
scant scalp hair

Skin Nails Hair Nails:
nail dystrophy, variable

Skeletal Feet:
pes cavus
tight heel cords

Immunology:
recurrent bacterial skin infections
recurrent cutaneous mycoses

Skin Nails Hair Skin:
decreased sweating
congenital erythrokeratodermia
mild lamellar ichthyosis
hyperkeratosis (palms, soles, elbows, knees)

Skeletal Limbs:
elbow contractures
knee contractures

Neoplasia:
squamous cell carcinoma (skin and tongue)


Clinical features from OMIM:

148210

Human phenotypes related to Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant:

32 (show all 23)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407
2 ichthyosis 32 HP:0008064
3 blindness 32 HP:0000618
4 photophobia 32 HP:0000613
5 hyperkeratosis 32 HP:0000962
6 nail dystrophy 32 HP:0008404
7 hypohidrosis 32 HP:0000966
8 pes cavus 32 HP:0001761
9 keratoconjunctivitis sicca 32 HP:0001097
10 nail dysplasia 32 HP:0002164
11 furrowed tongue 32 HP:0000221
12 squamous cell carcinoma 32 HP:0002860
13 oral leukoplakia 32 HP:0002745
14 recurrent bacterial skin infections 32 HP:0005406
15 sparse eyelashes 32 HP:0000653
16 knee flexion contracture 32 HP:0006380
17 elbow flexion contracture 32 HP:0002987
18 trichiasis 32 HP:0001128
19 corneal ulceration 32 HP:0012804
20 corneal scarring 32 HP:0000559
21 recurrent corneal erosions 32 HP:0000495
22 sparse and thin eyebrow 32 HP:0000535
23 abnormality of corneal stroma 32 HP:0011492

UMLS symptoms related to Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant:


photophobia

Drugs & Therapeutics for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant

Genetic Tests for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant

Genetic tests related to Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant 29 GJB2

Anatomical Context for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant

MalaCards organs/tissues related to Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant:

41
Skin, Eye, Tongue, Testes, T Cells

Publications for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant

Articles related to Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant:

(show all 43)
# Title Authors Year
1
Two Cases of Chronic Candidiasis in Keratitis-Ichthyosis-Deafness Syndrome. ( 29742560 )
2018
2
Severe Phenotype of Keratitis-Ichthyosis-Deafness Syndrome With Presumed Ocular Surface Squamous Neoplasia. ( 29023238 )
2018
3
Vegetating Candidiasis: A Mimicker of Squamous Cell Carcinoma in Keratitis Ichthyosis Deafness Syndrome. ( 28111777 )
2017
4
Keratitis-ichthyosis-deafness syndrome accompanied by disseminated cutaneous fungal infection. ( 28635012 )
2017
5
Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26. ( 28158657 )
2017
6
Keratitis-ichthyosis-deafness syndrome with recurrent pneumonia but no mucocutaneous infection. ( 27097757 )
2016
7
Successful treatment of pityriasis lichenoides chronica with narrow-band ultraviolet B therapy in a patient with Keratitis-Ichthyosis-Deafness syndrome: a case report. ( 27617521 )
2016
8
From Hyperactive Connexin26 Hemichannels to Impairments in Epidermal Calcium Gradient and Permeability Barrier in the Keratitis-Ichthyosis-Deafness Syndrome. ( 26777423 )
2016
9
A case of cutaneous vegetating candidiasis in a patient with Keratitis-Ichthyosis-Deafness Syndrome. ( 25600479 )
2015
10
Oral squamous cell carcinoma in a patient with keratitis-ichthyosis-deafness syndrome: a rare case. ( 25758847 )
2015
11
Mutations of connexin 26 (GJB2) gene in a Chinese keratitis-ichthyosis-deafness syndrome patient with squamous cell carcinoma. ( 26444850 )
2015
12
Ichthyosis prematurity syndrome mimics keratitis-ichthyosis-deafness syndrome at birth: Use of electron microscopy and genetic testing. ( 26341232 )
2015
13
Keratitis-ichthyosis-deafness syndrome-associated Cx26 mutants produce nonfunctional gap junctions but hyperactive hemichannels when co-expressed with wild type Cx43. ( 25625422 )
2015
14
Keratitis-ichthyosis-deafness syndrome: first affected family reported in the Middle East. ( 24741331 )
2014
15
Aberrant Connexin26 Hemichannels Underlying Keratitis-Ichthyosis-Deafness Syndrome Are Potently Inhibited by Mefloquine. ( 25229253 )
2014
16
Altered inhibition of Cx26 hemichannels by pH and Zn2+ in the A40V mutation associated with keratitis-ichthyosis-deafness syndrome. ( 24939841 )
2014
17
Aberrant Cx26 hemichannels and keratitis-ichthyosis-deafness syndrome: insights into syndromic hearing loss. ( 25386120 )
2014
18
Lethal form of keratitis-ichthyosis-deafness syndrome caused by the GJB2 mutation p.Ser17Phe. ( 24531573 )
2014
19
The human Cx26-D50A and Cx26-A88V mutations causing keratitis-ichthyosis-deafness syndrome display increased hemichannel activity. ( 23447037 )
2013
20
Drowning out communication. Focus on "The human Cx26-D50A and Cx26-A88V mutations causing keratitis-ichthyosis-deafness syndrome display increased hemichannel activity". ( 23576574 )
2013
21
Successful treatment with alitretinoin of dissecting cellulitis of the scalp in keratitis-ichthyosis-deafness syndrome. ( 23150172 )
2013
22
Squamous cell carcinoma arising from Keratitis-ichthyosis-deafness syndrome. ( 23388822 )
2013
23
Keratitis-Ichthyosis-Deafness syndrome: A rare congenital disorder. ( 23130264 )
2012
24
Pathological hemichannels associated with human Cx26 mutations causing Keratitis-Ichthyosis-Deafness syndrome. ( 21933663 )
2012
25
Cochlear implantation in keratitis-ichthyosis-deafness syndrome: 10-year follow-up of two patients. ( 22340753 )
2012
26
Possible modifier effects of keratin 17 gene mutation on keratitis-ichthyosis-deafness syndrome. ( 21999526 )
2012
27
Connexin 26 (GJB2) mutations in keratitis-ichthyosis-deafness syndrome presenting with squamous cell carcinoma. ( 22098592 )
2012
28
[Diagnostics of keratitis-ichthyosis-deafness syndrome (KID- syndrome)]. ( 22951689 )
2012
29
Extending the phenotypic spectrum of keratitis-ichthyosis-deafness syndrome: report of a patient with GJB2 (G12R) Connexin 26 mutation and unusual clinical findings. ( 22011219 )
2012
30
The Cx26-G45E mutation displays increased hemichannel activity in a mouse model of the lethal form of keratitis-ichthyosis-deafness syndrome. ( 22031297 )
2011
31
Keratitis-Ichthyosis-Deafness Syndrome, Atypical Connexin GJB2 Gene Mutation, and Peripheral T-Cell Lymphoma: More Than a Random Association? ( 22937313 )
2011
32
Differentially altered Ca2+ regulation and Ca2+ permeability in Cx26 hemichannels formed by the A40V and G45E mutations that cause keratitis ichthyosis deafness syndrome. ( 20584891 )
2010
33
A novel dominant and a de novo mutation in the GJB2 gene (connexin-26) cause keratitis-ichthyosis-deafness syndrome: implication for cochlear implantation. ( 20101161 )
2010
34
Keratitis-ichthyosis-deafness syndrome caused by GJB2 maternal mosaicism. ( 18843290 )
2009
35
Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients. ( 17381453 )
2007
36
Cochleosaccular dysplasia associated with a connexin 26 mutation in keratitis-ichthyosis-deafness syndrome. ( 16885744 )
2006
37
A novel N14Y mutation in Connexin26 in keratitis-ichthyosis-deafness syndrome: analyses of altered gap junctional communication and molecular structure of N terminus of mutated Connexin26. ( 16877344 )
2006
38
GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form. ( 15633193 )
2005
39
Keratitis-ichthyosis-deafness syndrome in association with follicular occlusion triad. ( 16172043 )
2005
40
A novel connexin 26 gene mutation associated with features of the keratitis-ichthyosis-deafness syndrome and the follicular occlusion triad. ( 15337980 )
2004
41
Keratitis-ichthyosis-deafness syndrome and carotenaemia. ( 12823302 )
2003
42
Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome. ( 12752120 )
2003
43
Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. ( 11912510 )
2002

Variations for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant

UniProtKB/Swiss-Prot genetic disease variations for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant:

75
# Symbol AA change Variation ID SNP ID
1 GJB2 p.Gly12Arg VAR_015453 rs104894408
2 GJB2 p.Ser17Phe VAR_015454 rs28929485
3 GJB2 p.Asp50Asn VAR_015456 rs28931594
4 GJB2 p.Asp50Tyr VAR_015935 rs28931594

ClinVar genetic disease variations for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant:

6
(show top 50) (show all 78)
# Gene Variation Type Significance SNP ID Assembly Location
1 GJB2 NM_004004.5(GJB2): c.71G> A (p.Trp24Ter) single nucleotide variant Pathogenic rs104894396 GRCh37 Chromosome 13, 20763650: 20763650
2 GJB2 NM_004004.5(GJB2): c.71G> A (p.Trp24Ter) single nucleotide variant Pathogenic rs104894396 GRCh38 Chromosome 13, 20189511: 20189511
3 GJB2 NM_004004.5(GJB2): c.35delG (p.Gly12Valfs) deletion Pathogenic rs80338939 GRCh37 Chromosome 13, 20763686: 20763686
4 GJB2 NM_004004.5(GJB2): c.35delG (p.Gly12Valfs) deletion Pathogenic rs80338939 GRCh38 Chromosome 13, 20189547: 20189547
5 GJB2 NM_004004.5(GJB2): c.139G> T (p.Glu47Ter) single nucleotide variant Pathogenic rs104894398 GRCh37 Chromosome 13, 20763582: 20763582
6 GJB2 NM_004004.5(GJB2): c.139G> T (p.Glu47Ter) single nucleotide variant Pathogenic rs104894398 GRCh38 Chromosome 13, 20189443: 20189443
7 GJB2 NM_004004.5(GJB2): c.427C> T (p.Arg143Trp) single nucleotide variant Pathogenic rs80338948 GRCh37 Chromosome 13, 20763294: 20763294
8 GJB2 NM_004004.5(GJB2): c.427C> T (p.Arg143Trp) single nucleotide variant Pathogenic rs80338948 GRCh38 Chromosome 13, 20189155: 20189155
9 GJB2 NM_004004.5(GJB2): c.269T> C (p.Leu90Pro) single nucleotide variant Pathogenic rs80338945 GRCh37 Chromosome 13, 20763452: 20763452
10 GJB2 NM_004004.5(GJB2): c.269T> C (p.Leu90Pro) single nucleotide variant Pathogenic rs80338945 GRCh38 Chromosome 13, 20189313: 20189313
11 GJB2 NM_004004.5(GJB2): c.148G> A (p.Asp50Asn) single nucleotide variant Pathogenic rs28931594 GRCh37 Chromosome 13, 20763573: 20763573
12 GJB2 NM_004004.5(GJB2): c.148G> A (p.Asp50Asn) single nucleotide variant Pathogenic rs28931594 GRCh38 Chromosome 13, 20189434: 20189434
13 GJB2 NM_004004.5(GJB2): c.34G> C (p.Gly12Arg) single nucleotide variant Pathogenic rs104894408 GRCh37 Chromosome 13, 20763687: 20763687
14 GJB2 NM_004004.5(GJB2): c.34G> C (p.Gly12Arg) single nucleotide variant Pathogenic rs104894408 GRCh38 Chromosome 13, 20189548: 20189548
15 GJB2 NM_004004.5(GJB2): c.50C> T (p.Ser17Phe) single nucleotide variant Pathogenic rs28929485 GRCh37 Chromosome 13, 20763671: 20763671
16 GJB2 NM_004004.5(GJB2): c.50C> T (p.Ser17Phe) single nucleotide variant Pathogenic rs28929485 GRCh38 Chromosome 13, 20189532: 20189532
17 GJB2 NM_004004.5(GJB2): c.148G> T (p.Asp50Tyr) single nucleotide variant Pathogenic rs28931594 GRCh37 Chromosome 13, 20763573: 20763573
18 GJB2 NM_004004.5(GJB2): c.148G> T (p.Asp50Tyr) single nucleotide variant Pathogenic rs28931594 GRCh38 Chromosome 13, 20189434: 20189434
19 GJB2 NM_004004.5(GJB2): c.134G> A (p.Gly45Glu) single nucleotide variant Likely pathogenic rs72561723 GRCh37 Chromosome 13, 20763587: 20763587
20 GJB2 NM_004004.5(GJB2): c.134G> A (p.Gly45Glu) single nucleotide variant Likely pathogenic rs72561723 GRCh38 Chromosome 13, 20189448: 20189448
21 GJB2 NM_004004.5(GJB2): c.283G> A (p.Val95Met) single nucleotide variant Pathogenic/Likely pathogenic rs111033299 GRCh37 Chromosome 13, 20763438: 20763438
22 GJB2 NM_004004.5(GJB2): c.283G> A (p.Val95Met) single nucleotide variant Pathogenic/Likely pathogenic rs111033299 GRCh38 Chromosome 13, 20189299: 20189299
23 GJB2 NM_004004.5(GJB2): c.416G> A (p.Ser139Asn) single nucleotide variant Pathogenic/Likely pathogenic rs76434661 GRCh37 Chromosome 13, 20763305: 20763305
24 GJB2 NM_004004.5(GJB2): c.416G> A (p.Ser139Asn) single nucleotide variant Pathogenic/Likely pathogenic rs76434661 GRCh38 Chromosome 13, 20189166: 20189166
25 GJB2 NM_004004.5(GJB2): c.617A> G (p.Asn206Ser) single nucleotide variant Pathogenic rs111033294 GRCh37 Chromosome 13, 20763104: 20763104
26 GJB2 NM_004004.5(GJB2): c.617A> G (p.Asn206Ser) single nucleotide variant Pathogenic rs111033294 GRCh38 Chromosome 13, 20188965: 20188965
27 GJB2 NM_004004.5(GJB2): c.493C> T (p.Arg165Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs376898963 GRCh37 Chromosome 13, 20763228: 20763228
28 GJB2 NM_004004.5(GJB2): c.493C> T (p.Arg165Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs376898963 GRCh38 Chromosome 13, 20189089: 20189089
29 GJB2 NM_004004.5(GJB2): c.355G> A (p.Glu119Lys) single nucleotide variant Likely benign rs150529554 GRCh38 Chromosome 13, 20189227: 20189227
30 GJB2 NM_004004.5(GJB2): c.355G> A (p.Glu119Lys) single nucleotide variant Likely benign rs150529554 GRCh37 Chromosome 13, 20763366: 20763366
31 GJB2 NM_004004.5(GJB2): c.131G> A (p.Trp44Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104894413 GRCh38 Chromosome 13, 20189451: 20189451
32 GJB2 NM_004004.5(GJB2): c.131G> A (p.Trp44Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104894413 GRCh37 Chromosome 13, 20763590: 20763590
33 GJB2 NM_004004.5(GJB2): c.120A> C (p.Ala40=) single nucleotide variant Conflicting interpretations of pathogenicity rs561870637 GRCh37 Chromosome 13, 20763601: 20763601
34 GJB2 NM_004004.5(GJB2): c.120A> C (p.Ala40=) single nucleotide variant Conflicting interpretations of pathogenicity rs561870637 GRCh38 Chromosome 13, 20189462: 20189462
35 GJB2 NM_004004.5(GJB2): c.*1206T> G single nucleotide variant Uncertain significance rs886050026 GRCh38 Chromosome 13, 20187695: 20187695
36 GJB2 NM_004004.5(GJB2): c.*1206T> G single nucleotide variant Uncertain significance rs886050026 GRCh37 Chromosome 13, 20761834: 20761834
37 GJB2 NM_004004.5(GJB2): c.*114T> C single nucleotide variant Likely benign rs182085649 GRCh37 Chromosome 13, 20762926: 20762926
38 GJB2 NM_004004.5(GJB2): c.*114T> C single nucleotide variant Likely benign rs182085649 GRCh38 Chromosome 13, 20188787: 20188787
39 GJB2 NM_004004.5(GJB2): c.*1197T> A single nucleotide variant Benign rs11841182 GRCh37 Chromosome 13, 20761843: 20761843
40 GJB2 NM_004004.5(GJB2): c.*1197T> A single nucleotide variant Benign rs11841182 GRCh38 Chromosome 13, 20187704: 20187704
41 GJB2 NM_004004.5(GJB2): c.*1152G> A single nucleotide variant Benign rs7623 GRCh38 Chromosome 13, 20187749: 20187749
42 GJB2 NM_004004.5(GJB2): c.*1152G> A single nucleotide variant Benign rs7623 GRCh37 Chromosome 13, 20761888: 20761888
43 GJB2 NM_004004.5(GJB2): c.*1033G> A single nucleotide variant Likely benign rs185790172 GRCh37 Chromosome 13, 20762007: 20762007
44 GJB2 NM_004004.5(GJB2): c.*1033G> A single nucleotide variant Likely benign rs185790172 GRCh38 Chromosome 13, 20187868: 20187868
45 GJB2 NM_004004.5(GJB2): c.*1016A> G single nucleotide variant Likely benign rs537683957 GRCh37 Chromosome 13, 20762024: 20762024
46 GJB2 NM_004004.5(GJB2): c.*1016A> G single nucleotide variant Likely benign rs537683957 GRCh38 Chromosome 13, 20187885: 20187885
47 GJB2 NM_004004.5(GJB2): c.*800A> G single nucleotide variant Uncertain significance rs886050027 GRCh37 Chromosome 13, 20762240: 20762240
48 GJB2 NM_004004.5(GJB2): c.*800A> G single nucleotide variant Uncertain significance rs886050027 GRCh38 Chromosome 13, 20188101: 20188101
49 GJB2 NM_004004.5(GJB2): c.*544T> C single nucleotide variant Likely benign rs564755659 GRCh37 Chromosome 13, 20762496: 20762496
50 GJB2 NM_004004.5(GJB2): c.*544T> C single nucleotide variant Likely benign rs564755659 GRCh38 Chromosome 13, 20188357: 20188357

Expression for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant

Search GEO for disease gene expression data for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant.

Pathways for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant

GO Terms for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant

Sources for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant

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