MCID: CRB069
MIFTS: 40

Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases

Aliases & Classifications for Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar...

MalaCards integrated aliases for Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome:

Name: Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome 57 53 75 29 13 6 44 40 73
Cednik Syndrome 57 12 53 59 75 37 15
Neurocutaneous Syndromes 44 73
Cerebral Dysgenesis-Neuropathy-Ichthyosis-Palmoplantar Keratoderma Syndrome 59
Cerebral Dysgenesis, Neuropathy, Ichthyosis and Keratoderma Syndrome 12
Cerebral Dysgenesis-Neuropathy-Ichthyosis-Keratoderma Syndrome 76
Cednik 75

Characteristics:

Orphanet epidemiological data:

59
cednik syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in first months of life


HPO:

32
cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar...

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 66631Disease definitionCEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis.EpidemiologyIt has been described so far in seven affected individuals (four boys and three girls) from two consanguineous families.Clinical descriptionClinically, the patients display a unique constellation of clinical signs described with the acronym CEDNIK: CErebral Dysgenesis, Neuropathy, Ichthyosis, and palmoplantar Keratoderma.EtiologyIt is caused by mutations in the SNAP29 gene (22q11.2) which encodes a SNARE protein involved in vesicle fusion.Genetic counselingThe disease is inherited as an autosomal recessive condition.Visit the Orphanet disease page for more resources.

MalaCards based summary : Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome, also known as cednik syndrome, is related to cutis laxa, autosomal recessive, type iiia and trichothiodystrophy 4, nonphotosensitive. An important gene associated with Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome is SNAP29 (Synaptosome Associated Protein 29), and among its related pathways/superpathways is SNARE interactions in vesicular transport. Affiliated tissues include brain, eye and skin, and related phenotypes are proteinuria and nephrotic syndrome

Disease Ontology : 12 An autosomal recessive disease that has material basis in homozygous mutation in the SNAP29 gene and characterized by a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, facial dysmoprhism, palmoplantar keratoderma and late-onset ichthyosis.

OMIM : 57 CEDNIK (cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma) syndrome refers to a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, and facial dysmorphism, as well as palmoplantar keratoderma and late-onset ichthyosis. Brain magnetic resonance imaging (MRI) shows various degrees of cerebral dysgenesis including absence of corpus callosum and cortical dysplasia. The syndrome has been found to be uniformly fatal between the ages of 5 and 12 years (Fuchs-Telem et al., 2011). (609528)

UniProtKB/Swiss-Prot : 75 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome: A neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis and palmoplantar keratoderma.

Wikipedia : 76 Cerebral dysgenesis–neuropathy–ichthyosis–keratoderma syndrome (also known as \"CEDNIK syndrome\") is a... more...

Related Diseases for Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar...

Diseases related to Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 cutis laxa, autosomal recessive, type iiia 11.1
2 trichothiodystrophy 4, nonphotosensitive 11.1
3 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 10.9
4 gomez-lopez-hernandez syndrome 10.9
5 phace association 10.9
6 macules hereditary congenital hypopigmented and hyperpigmented 10.9
7 encephalocraniocutaneous lipomatosis 10.2
8 lipomatosis 10.2
9 ichthyosis 10.1
10 cerebritis 10.1
11 neuropathy 10.1
12 hypomelanosis of ito 9.9
13 incontinentia pigmenti 9.9
14 leukodystrophy, hypomyelinating, 2 9.9 PI4KA SNAP29
15 velocardiofacial syndrome 9.7 PI4KA SNAP29

Graphical network of the top 20 diseases related to Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome:



Diseases related to Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome

Symptoms & Phenotypes for Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar...

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive

Neurologic Peripheral Nervous System:
peripheral neuropathy
areflexia

Neurologic Central Nervous System:
pachygyria
polymicrogyria
cortical dysplasia
poor head control
mental retardation, severe
more
Head And Neck Ears:
sensorineural deafness

Head And Neck Nose:
flat, broad nasal root

Skin Nails Hair Skin:
ichthyosis
palmoplantar keratoderma

Head And Neck Face:
long face

Head And Neck Eyes:
downslanting palpebral fissures
hypoplastic optic discs
hypertelorism, mild

Head And Neck Head:
microcephaly, progressive

Skin Nails Hair Skin Histology:
spinous, granular, and stratum corneum layers contain clear vesicles
abnormal lamellar granule maturation
abnormal distribution of glucosylceramides


Clinical features from OMIM:

609528

Human phenotypes related to Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome:

59 32 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 proteinuria 59 32 occasional (7.5%) Occasional (29-5%) HP:0000093
2 nephrotic syndrome 59 32 occasional (7.5%) Occasional (29-5%) HP:0000100
3 hypogonadism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000135
4 abnormality of the dentition 59 32 occasional (7.5%) Occasional (29-5%) HP:0000164
5 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
6 dolichocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000268
7 long face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000276
8 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
9 macrotia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000400
10 sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000407
11 prominent nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000426
12 depressed nasal ridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0000457
13 downslanted palpebral fissures 59 32 hallmark (90%) Very frequent (99-80%) HP:0000494
14 abnormality of eye movement 59 32 frequent (33%) Frequent (79-30%) HP:0000496
15 abnormality of vision 59 32 occasional (7.5%) Occasional (29-5%) HP:0000504
16 optic atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0000648
17 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
18 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
19 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
20 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
21 abnormality of the corpus callosum 59 32 frequent (33%) Frequent (79-30%) HP:0001273
22 areflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001284
23 stroke 59 32 occasional (7.5%) Occasional (29-5%) HP:0001297
24 pachygyria 59 32 frequent (33%) Frequent (79-30%) HP:0001302
25 congestive heart failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001635
26 polymicrogyria 59 32 frequent (33%) Frequent (79-30%) HP:0002126
27 poor head control 59 32 hallmark (90%) Very frequent (99-80%) HP:0002421
28 abnormality of peripheral nerve conduction 59 32 frequent (33%) Frequent (79-30%) HP:0003134
29 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
30 diffuse palmoplantar keratoderma 59 32 hallmark (90%) Very frequent (99-80%) HP:0007435
31 ichthyosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008064
32 peripheral neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0009830
33 abnormality of the eye 59 Occasional (29-5%)
34 progressive microcephaly 32 HP:0000253
35 wide nasal bridge 32 HP:0000431
36 palmoplantar keratoderma 32 HP:0000982
37 muscular hypotonia 32 HP:0001252
38 polyneuropathy 32 HP:0001271
39 failure to thrive 32 HP:0001508
40 cortical dysplasia 32 HP:0002539
41 depressed nasal bridge 32 HP:0005280
42 intellectual disability, progressive 32 HP:0006887
43 optic disc hypoplasia 32 HP:0007766
44 intellectual disability, severe 32 HP:0010864

GenomeRNAi Phenotypes related to Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 9.1 PI4KA
2 Decreased viability GR00231-A 9.1 PI4KA SQSTM1
3 Decreased viability GR00381-A-1 9.1 SQSTM1
4 Decreased viability GR00402-S-2 9.1 PI4KA SQSTM1

MGI Mouse Phenotypes related to Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.7 ABCA12 DDIT3 EHD1 PI4KA SNAP29 SQSTM1
2 homeostasis/metabolism MP:0005376 9.43 ABCA12 DDIT3 EHD1 SNAP29 SQSTM1 TF
3 mortality/aging MP:0010768 9.1 ABCA12 EHD1 PI4KA SNAP29 SQSTM1 TF

Drugs & Therapeutics for Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar...

Search Clinical Trials , NIH Clinical Center for Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome

Cochrane evidence based reviews: neurocutaneous syndromes

Genetic Tests for Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar...

Genetic tests related to Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome:

# Genetic test Affiliating Genes
1 Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome 29 SNAP29

Anatomical Context for Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar...

MalaCards organs/tissues related to Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome:

41
Brain, Eye, Skin, Heart

Publications for Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar...

Articles related to Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome:

# Title Authors Year
1
Establishment of Two Mouse Models for CEDNIK Syndrome Reveals the Pivotal Role of SNAP29 in Epidermal Differentiation. ( 26747696 )
2016
2
CEDNIK syndrome results from loss-of-function mutations in SNAP29. ( 21073448 )
2011

Variations for Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar...

ClinVar genetic disease variations for Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome:

6
(show top 50) (show all 176)
# Gene Variation Type Significance SNP ID Assembly Location
1 SNAP29 SNAP29, 1-BP DEL, 220G deletion Pathogenic
2 SNAP29 NM_004782.3(SNAP29): c.487_488insA (p.Ser163Lysfs) insertion Pathogenic rs387907363 GRCh37 Chromosome 22, 21235389: 21235389
3 SNAP29 NM_004782.3(SNAP29): c.487_488insA (p.Ser163Lysfs) insertion Pathogenic rs387907363 GRCh38 Chromosome 22, 20881101: 20881101
4 SNAP29 NM_004782.3(SNAP29): c.223delG (p.Val75Serfs) deletion Pathogenic rs869312906 GRCh37 Chromosome 22, 21213621: 21213621
5 SNAP29 NM_004782.3(SNAP29): c.223delG (p.Val75Serfs) deletion Pathogenic rs869312906 GRCh38 Chromosome 22, 20859333: 20859333
6 SNAP29 NM_004782.3(SNAP29): c.487A> G (p.Ser163Gly) single nucleotide variant Benign/Likely benign rs116892729 GRCh37 Chromosome 22, 21235389: 21235389
7 SNAP29 NM_004782.3(SNAP29): c.487A> G (p.Ser163Gly) single nucleotide variant Benign/Likely benign rs116892729 GRCh38 Chromosome 22, 20881101: 20881101
8 SNAP29 NM_004782.3(SNAP29): c.-5G> A single nucleotide variant Likely benign rs139884576 GRCh38 Chromosome 22, 20859106: 20859106
9 SNAP29 NM_004782.3(SNAP29): c.-5G> A single nucleotide variant Likely benign rs139884576 GRCh37 Chromosome 22, 21213394: 21213394
10 SNAP29 NM_004782.3(SNAP29): c.6A> G (p.Ser2=) single nucleotide variant Uncertain significance rs770386845 GRCh38 Chromosome 22, 20859116: 20859116
11 SNAP29 NM_004782.3(SNAP29): c.6A> G (p.Ser2=) single nucleotide variant Uncertain significance rs770386845 GRCh37 Chromosome 22, 21213404: 21213404
12 SNAP29 NM_004782.3(SNAP29): c.18A> G (p.Lys6=) single nucleotide variant Benign rs1061064 GRCh37 Chromosome 22, 21213416: 21213416
13 SNAP29 NM_004782.3(SNAP29): c.18A> G (p.Lys6=) single nucleotide variant Benign rs1061064 GRCh38 Chromosome 22, 20859128: 20859128
14 SNAP29 NM_004782.3(SNAP29): c.550A> G (p.Met184Val) single nucleotide variant Uncertain significance rs770234475 GRCh37 Chromosome 22, 21237788: 21237788
15 SNAP29 NM_004782.3(SNAP29): c.550A> G (p.Met184Val) single nucleotide variant Uncertain significance rs770234475 GRCh38 Chromosome 22, 20883500: 20883500
16 SNAP29 NM_004782.3(SNAP29): c.*519_*520delAC deletion Uncertain significance rs886057267 GRCh37 Chromosome 22, 21242643: 21242644
17 SNAP29 NM_004782.3(SNAP29): c.*519_*520delAC deletion Uncertain significance rs886057267 GRCh38 Chromosome 22, 20888355: 20888356
18 SNAP29 NM_004782.3(SNAP29): c.*614C> G single nucleotide variant Uncertain significance rs192171507 GRCh38 Chromosome 22, 20888450: 20888450
19 SNAP29 NM_004782.3(SNAP29): c.*614C> G single nucleotide variant Uncertain significance rs192171507 GRCh37 Chromosome 22, 21242738: 21242738
20 SNAP29 NM_004782.3(SNAP29): c.*780G> T single nucleotide variant Uncertain significance rs543150102 GRCh38 Chromosome 22, 20888616: 20888616
21 SNAP29 NM_004782.3(SNAP29): c.*780G> T single nucleotide variant Uncertain significance rs543150102 GRCh37 Chromosome 22, 21242904: 21242904
22 SNAP29 NM_004782.3(SNAP29): c.*1490T> C single nucleotide variant Likely benign rs12168260 GRCh38 Chromosome 22, 20889326: 20889326
23 SNAP29 NM_004782.3(SNAP29): c.*1490T> C single nucleotide variant Likely benign rs12168260 GRCh37 Chromosome 22, 21243614: 21243614
24 SNAP29 NM_004782.3(SNAP29): c.*1519T> C single nucleotide variant Benign rs165861 GRCh38 Chromosome 22, 20889355: 20889355
25 SNAP29 NM_004782.3(SNAP29): c.*1519T> C single nucleotide variant Benign rs165861 GRCh37 Chromosome 22, 21243643: 21243643
26 SNAP29 NM_004782.3(SNAP29): c.*1563T> G single nucleotide variant Benign rs11577 GRCh38 Chromosome 22, 20889399: 20889399
27 SNAP29 NM_004782.3(SNAP29): c.*1563T> G single nucleotide variant Benign rs11577 GRCh37 Chromosome 22, 21243687: 21243687
28 SNAP29 NM_004782.3(SNAP29): c.*2111G> T single nucleotide variant Uncertain significance rs551094177 GRCh37 Chromosome 22, 21244235: 21244235
29 SNAP29 NM_004782.3(SNAP29): c.*2111G> T single nucleotide variant Uncertain significance rs551094177 GRCh38 Chromosome 22, 20889947: 20889947
30 SNAP29 NM_004782.3(SNAP29): c.*2179G> A single nucleotide variant Uncertain significance rs553271593 GRCh37 Chromosome 22, 21244303: 21244303
31 SNAP29 NM_004782.3(SNAP29): c.*2179G> A single nucleotide variant Uncertain significance rs553271593 GRCh38 Chromosome 22, 20890015: 20890015
32 SNAP29 NM_004782.3(SNAP29): c.*2501G> A single nucleotide variant Uncertain significance rs112984030 GRCh37 Chromosome 22, 21244625: 21244625
33 SNAP29 NM_004782.3(SNAP29): c.*2501G> A single nucleotide variant Uncertain significance rs112984030 GRCh38 Chromosome 22, 20890337: 20890337
34 SNAP29 NM_004782.3(SNAP29): c.*2692C> T single nucleotide variant Likely benign rs148419415 GRCh37 Chromosome 22, 21244816: 21244816
35 SNAP29 NM_004782.3(SNAP29): c.*2692C> T single nucleotide variant Likely benign rs148419415 GRCh38 Chromosome 22, 20890528: 20890528
36 SNAP29 NM_004782.3(SNAP29): c.*2816A> G single nucleotide variant Benign rs165739 GRCh37 Chromosome 22, 21244940: 21244940
37 SNAP29 NM_004782.3(SNAP29): c.*2816A> G single nucleotide variant Benign rs165739 GRCh38 Chromosome 22, 20890652: 20890652
38 SNAP29 NM_004782.3(SNAP29): c.*2872G> A single nucleotide variant Likely benign rs111581119 GRCh37 Chromosome 22, 21244996: 21244996
39 SNAP29 NM_004782.3(SNAP29): c.*2872G> A single nucleotide variant Likely benign rs111581119 GRCh38 Chromosome 22, 20890708: 20890708
40 SNAP29 NM_004782.3(SNAP29): c.*2937_*2944delAAAAAAAA deletion Uncertain significance rs886057277 GRCh38 Chromosome 22, 20890773: 20890780
41 SNAP29 NM_004782.3(SNAP29): c.*2937_*2944delAAAAAAAA deletion Uncertain significance rs886057277 GRCh37 Chromosome 22, 21245061: 21245068
42 SNAP29 NM_004782.3(SNAP29): c.*2944delA deletion Uncertain significance rs361606 GRCh38 Chromosome 22, 20890780: 20890780
43 SNAP29 NM_004782.3(SNAP29): c.*2944delA deletion Uncertain significance rs361606 GRCh37 Chromosome 22, 21245068: 21245068
44 SNAP29 NM_004782.3(SNAP29): c.*2961T> C single nucleotide variant Benign rs165715 GRCh38 Chromosome 22, 20890797: 20890797
45 SNAP29 NM_004782.3(SNAP29): c.*2961T> C single nucleotide variant Benign rs165715 GRCh37 Chromosome 22, 21245085: 21245085
46 SNAP29 NM_004782.3(SNAP29): c.-68A> T single nucleotide variant Likely benign rs117593372 GRCh38 Chromosome 22, 20859043: 20859043
47 SNAP29 NM_004782.3(SNAP29): c.-68A> T single nucleotide variant Likely benign rs117593372 GRCh37 Chromosome 22, 21213331: 21213331
48 SNAP29 NM_004782.3(SNAP29): c.-40T> G single nucleotide variant Uncertain significance rs886057263 GRCh38 Chromosome 22, 20859071: 20859071
49 SNAP29 NM_004782.3(SNAP29): c.-40T> G single nucleotide variant Uncertain significance rs886057263 GRCh37 Chromosome 22, 21213359: 21213359
50 SNAP29 NM_004782.3(SNAP29): c.130T> C (p.Tyr44His) single nucleotide variant Likely benign rs116644127 GRCh37 Chromosome 22, 21213528: 21213528

Expression for Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar...

Search GEO for disease gene expression data for Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome.

Pathways for Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar...

Pathways related to Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome according to KEGG:

37
# Name Kegg Source Accession
1 SNARE interactions in vesicular transport hsa04130

GO Terms for Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar...

Cellular components related to Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 autophagosome GO:0005776 9.32 SNAP29 SQSTM1
2 endocytic vesicle GO:0030139 9.26 EHD1 TF
3 ciliary membrane GO:0060170 9.16 EHD1 SNAP29
4 late endosome GO:0005770 9.13 DDIT3 SQSTM1 TF
5 ciliary pocket membrane GO:0020018 8.62 EHD1 SNAP29

Biological processes related to Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endosomal transport GO:0016197 8.62 EHD1 SQSTM1

Sources for Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar...

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