MCID: MGL023
MIFTS: 44

Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, Somatic

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome,...

MalaCards integrated aliases for Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, Somatic:

Name: Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, Somatic 54 13
Megalencephaly Cutis Marmorata Telangiectatica Congenita 50 25 29 69
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome 25 56 71
Megalencephaly-Capillary Malformation Syndrome 25 56 71
Mcmtc 25 56 71
Mcap 25 56 71
Macrocephaly Cutis Marmorata Telangiectatica Congenita 50 25
Macrocephaly-Capillary Malformation Syndrome 25 56
Macrocephaly-Capillary Malformation 50 71
M-Cm 50 25
Mcm 56 71
Megalencephaly-Cutis Marmorata Telangiectatica Congenita Syndrome 56
Macrocephaly-Cutis Marmorata Telangiectatica Congenita Syndrome 56
Megalencephaly-Cutis Marmorata Telangiectatica Congenita 71
Megalocephaly Cutis Marmorata Telangiectatica Congenita 50
Macrocephaly-Cutis Marmorata Telangiectatica Congenita 71
M-Cmtc 50

Characteristics:

Orphanet epidemiological data:

56
megalencephaly-capillary malformation-polymicrogyria syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

54
Inheritance:
somatic mutation


HPO:

32
megalencephaly-capillary malformation-polymicrogyria syndrome, somatic:
Inheritance somatic mutation sporadic


Classifications:



Summaries for Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome,...

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 60040disease definitionmegalencephaly-capillary malformation-polymicrogyria syndrome (mcap) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.epidemiologyapproximately 170 patients have been reported in the literature without significant sex predominance.clinical descriptionsymptoms are usually recognizable at birth. their severity varies widely among patients. macrocephaly is a major clinical feature and results from megalencephaly, which sometimes progresses to hydrocephaly. vascular lesions (not cutis marmorata as previously thought) are often scattered over the limbs, palms, soles and trunk, are frequently pink/red, and are aggravated by crying and emotions. facial dysmorphism is observed with full cheeks, frontal bossing, and nevus flammeus of the nose and/or philtrum and upper lip. there is a delay in speech and motor skills. patients may present neurological symptoms, mainly neonatal hypotonia, and less frequently seizures. additional clinical manifestations include prenatal overgrowth, limb asymmetry, joint laxity, soft skin and thick subcutaneous tissue, and/or toe syndactyly. some patients develop neoplasias (risk of tumor development estimated at 5-6%). there is also an increased risk for congenital heart defects such as tetralogy of fallot (see this term).etiologyrecently, somatic mutations of the pik3ca gene (3q26), with evidence of postzygotic mosaicism, were found in several patients. pik3ca encodes the p110α catalytic subunit of phosphatidylinositide 3-kinase, an enzyme that regulates a wide range of processes such as cell growth, metabolism, angiogenesis, and brain development.diagnostic methodsthree sets of clinical diagnostic criteria have been proposed (robertson's, franceschini's, and martinez-glez's criteria) that include a combination of major (e.g. macrocephaly) and minor (e.g. neonatal hypotonia, syndactyly, asymmetric overgrowth, capillary malformation, midline facial nevus flammeus and connective tissue defects) criteria. the clinical diagnosis of mcap may be supported by mri showing structural cerebral abnormalities like polymicrogyria and focal cortical dysplasia, ventriculomegaly, cerebral/cerebellar asymmetry, cerebellar tonsil herniation, white matter and/or periventricular regions signal abnormalities with increased t2 signal intensity, thick corpus callosum, large venous sinuses and prominent perivascular spaces.differential diagnosisdifferential diagnoses include megalencephaly - polymicrogyria - post-axial polydactyly - hydrocephalus, klippel-trénaunay syndrome, beckwith-wiedemann syndrome, and pten hamartoma tumor syndrome (phts) (see these terms).antenatal diagnosisprenatal ultrasound shows marked fetal overgrowth and progressive macrocephaly in the absence of maternal hyperglycemia or fetal hyperinsulinemia, hydrocephalus, frontal bossing, polydactyly, limb asymmetry, polyhydramnios, hydrops fetalis and pleural effusion.genetic counselingall reported cases occurred sporadically; the recurrence risk for sibs is probably low.management and treatmentmanagement requires a multidisciplinary approach (involving neurology, ophthalmology, cardiology, orthopedics, audiometrics, physiotherapy, psychology and dermatology). neurosurgery can be performed depending on the severity of brain abnormalities (eg. endoscopic third ventriculostomy, posterior fossa decompression). a regular surveillance (brain mri through the first 6 years of life, renal ultrasound for wilm's tumor screening through the first 8 years of life) is recommended.prognosisprognosis depends on the severity of symptoms. early death, due to feeding difficulties, complex cardiac heart disease and arrhythmia, has been reported in rare occasions.visit the orphanet disease page for more resources. last updated: 7/1/2013

MalaCards based summary : Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, Somatic, also known as megalencephaly cutis marmorata telangiectatica congenita, is related to megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 and megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, and has symptoms including failure to thrive, optic atrophy and wide mouth. An important gene associated with Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, Somatic is PIK3CA (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha), and among its related pathways/superpathways are Toll-like Receptor Signaling Pathway and Development Endothelin-1/EDNRA signaling. Affiliated tissues include skin, brain and heart, and related phenotype is Decreased shRNA abundance (Z-score < -2).

Genetics Home Reference : 25 Megalencephaly-capillary malformation syndrome (MCAP) is a disorder characterized by overgrowth of several tissues in the body. Its primary features are a large brain (megalencephaly) and abnormalities of small blood vessels in the skin called capillaries (capillary malformations).

OMIM : 54
Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is characterized by a spectrum of anomalies including primary megalencephaly, prenatal overgrowth, brain and body asymmetry, cutaneous vascular malformations, digital anomalies consisting of syndactyly with or without postaxial polydactyly, connective tissue dysplasia involving the skin, subcutaneous tissue, and joints, and cortical brain malformations, most distinctively polymicrogyria (summary by Mirzaa et al., 2012). This disorder is also known as the macrocephaly-capillary malformation (MCM) syndrome (Conway et al., 2007). Mirzaa et al. (2012) suggested use of the term MCAP rather than MCM to reflect the very large brain size, rather than simply large head size, that characterizes this syndrome, and the importance and high frequency of perisylvian polymicrogyria. (602501)

UniProtKB/Swiss-Prot : 71 Megalencephaly-capillary malformation-polymicrogyria syndrome: A syndrome characterized by a spectrum of anomalies including primary megalencephaly, prenatal overgrowth, brain and body asymmetry, cutaneous vascular malformations, digital anomalies consisting of syndactyly with or without postaxial polydactyly, connective tissue dysplasia involving the skin, subcutaneous tissue, and joints, and cortical brain malformations, most distinctively polymicrogyria.

Wikipedia : 72 Macrocephaly-capillary malformation (M-CM) is a multiple malformation syndrome causing abnormal body and... more...

Related Diseases for Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome,...

Diseases related to Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, Somatic via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
id Related Disease Score Top Affiliating Genes
1 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 11.3
2 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 11.3
3 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 11.1
4 tetralogy of fallot 10.1
5 cutis marmorata telangiectatica congenita 10.1
6 hydrocephalus 9.9
7 thrombosis 9.9
8 polydactyly 9.9
9 sagittal sinus thrombosis 9.9
10 polymicrogyria 9.9
11 megalencephaly 9.9
12 cowden syndrome 5 9.6 AKT3 PIK3CA
13 hemoglobinemia 9.5 AKT3 PIK3CA
14 glomus tympanicum tumor 9.5 AKT3 PIK3CA
15 cowden syndrome 6 9.4 AKT3 PIK3CA
16 myelinoclastic diffuse sclerosis 9.2 AKT3 PIK3CA

Graphical network of the top 20 diseases related to Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, Somatic:



Diseases related to Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, Somatic

Symptoms & Phenotypes for Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome,...

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
hypotonia
mental retardation
ventriculomegaly
developmental delay
seizures
more
Skeletal:
joint laxity

Skin Nails & Hair- Skin:
cutis marmorata
thick, loose, doughy skin
cutaneous vascular malformations
patchy, reticular stains

Skeletal- Feet:
syndactyly
polydactyly

Neoplasia:
increased risk of leukemia
increased risk of meningioma
increased risk of wilms tumor

Growth- Weight:
increased birth weight

Head And Neck- Head:
megalencephaly
macrocephaly, progressive in infancy

Head And Neck- Nose:
flattened nasal bridge

Muscle Soft Tissue:
thickened subcutaneous tissue

Head And Neck- Eyes:
downslanting palpebral fissures
hypertelorism
epicanthus
unilateral microphthalmia

Head And Neck- Face:
broad forehead
smooth philtrum

Cardiovascular- Heart:
ventricular septal defect

Skeletal- Hands:
syndactyly
polydactyly

Growth- Height:
increased birth length

Growth- Other:
somatic overgrowth, asymmetric
hemihyperplasia

Head And Neck- Ears:
fleshy earlobes

Head And Neck- Mouth:
narrow arched palate


Clinical features from OMIM:

602501

Human phenotypes related to Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, Somatic:

56 32 (show top 50) (show all 56)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 56 32 frequent (33%) Frequent (79-30%) HP:0001508
2 optic atrophy 56 32 occasional (7.5%) Occasional (29-5%) HP:0000648
3 wide mouth 56 32 hallmark (90%) Very frequent (99-80%) HP:0000154
4 ventriculomegaly 56 32 frequent (33%) Frequent (79-30%) HP:0002119
5 high forehead 56 32 frequent (33%) Frequent (79-30%) HP:0000348
6 hydrocephalus 56 32 frequent (33%) Frequent (79-30%) HP:0000238
7 depressed nasal bridge 56 32 occasional (7.5%) Occasional (29-5%) HP:0005280
8 polymicrogyria 56 32 occasional (7.5%) Occasional (29-5%) HP:0002126
9 frontal bossing 56 32 frequent (33%) Frequent (79-30%) HP:0002007
10 global developmental delay 56 32 frequent (33%) Frequent (79-30%) HP:0001263
11 macrocephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000256
12 cutis marmorata 56 32 frequent (33%) Frequent (79-30%) HP:0000965
13 intellectual disability 56 32 frequent (33%) Frequent (79-30%) HP:0001249
14 full cheeks 56 32 frequent (33%) Frequent (79-30%) HP:0000293
15 finger syndactyly 56 32 hallmark (90%) Very frequent (99-80%) HP:0006101
16 toe syndactyly 56 32 hallmark (90%) Very frequent (99-80%) HP:0001770
17 arrhythmia 56 32 occasional (7.5%) Occasional (29-5%) HP:0011675
18 joint hyperflexibility 56 32 frequent (33%) Frequent (79-30%) HP:0005692
19 facial asymmetry 56 32 hallmark (90%) Very frequent (99-80%) HP:0000324
20 muscular hypotonia 56 32 frequent (33%) Frequent (79-30%) HP:0001252
21 nevus flammeus 56 32 hallmark (90%) Very frequent (99-80%) HP:0001052
22 arteriovenous malformation 56 32 hallmark (90%) Very frequent (99-80%) HP:0100026
23 arnold-chiari malformation 56 32 occasional (7.5%) Occasional (29-5%) HP:0002308
24 cerebral ischemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002637
25 aplasia/hypoplasia of the cerebellum 56 32 frequent (33%) Frequent (79-30%) HP:0007360
26 deeply set eye 56 32 occasional (7.5%) Occasional (29-5%) HP:0000490
27 visceral angiomatosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0100761
28 hand polydactyly 56 32 hallmark (90%) Very frequent (99-80%) HP:0001161
29 foot polydactyly 56 32 hallmark (90%) Very frequent (99-80%) HP:0001829
30 hypermelanotic macule 56 32 frequent (33%) Frequent (79-30%) HP:0001034
31 asymmetric growth 56 32 hallmark (90%) Very frequent (99-80%) HP:0100555
32 seizures 32 HP:0001250
33 hypertelorism 32 HP:0000316
34 hernia 32 HP:0100790
35 joint laxity 32 HP:0001388
36 microphthalmia 32 HP:0000568
37 broad forehead 32 HP:0000337
38 ventricular septal defect 32 HP:0001629
39 cavum septum pellucidum 32 HP:0002389
40 syndactyly 32 HP:0001159
41 downslanted palpebral fissures 32 HP:0000494
42 smooth philtrum 32 HP:0000319
43 epicanthus 32 HP:0000286
44 leukemia 32 HP:0001909
45 meningioma 32 HP:0002858
46 polydactyly 32 HP:0010442
47 megalencephaly 32 HP:0001355
48 overgrowth 32 HP:0001548
49 progressive macrocephaly 32 HP:0004481
50 nephroblastoma 32 HP:0002667

UMLS symptoms related to Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, Somatic:


seizures, joint laxity

GenomeRNAi Phenotypes related to Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, Somatic according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.1 PIK3CA
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.1 PIK3CA
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.1 PIK3CA
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.1 AKT3 PIK3CA
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.1 AKT3
6 Decreased cell migration GR00055-A-1 8.96 AKT3 PIK3CA

Drugs & Therapeutics for Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome,...

Search Clinical Trials , NIH Clinical Center for Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, Somatic

Genetic Tests for Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome,...

Genetic tests related to Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, Somatic:

id Genetic test Affiliating Genes
1 Megalencephaly Cutis Marmorata Telangiectatica Congenita 29

Anatomical Context for Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome,...

MalaCards organs/tissues related to Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, Somatic:

39
Skin, Brain, Heart, Tonsil, Cerebellum, Eye

Publications for Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome,...

Variations for Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome,...

UniProtKB/Swiss-Prot genetic disease variations for Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, Somatic:

71 (show all 15)
id Symbol AA change Variation ID SNP ID
1 PIK3CA p.Arg88Gln VAR_026167 rs121913287
2 PIK3CA p.Glu545Lys VAR_026178 rs104886003
3 PIK3CA p.Tyr1021Cys VAR_026184 rs121913288
4 PIK3CA p.Ala1035Val VAR_026189
5 PIK3CA p.Met1043Ile VAR_026190 rs121913283
6 PIK3CA p.His1047Tyr VAR_026193 rs121913281
7 PIK3CA p.Glu81Lys VAR_069251
8 PIK3CA p.Gly364Arg VAR_069252
9 PIK3CA p.Glu365Lys VAR_069253
10 PIK3CA p.Cys378Tyr VAR_069254 rs397514565
11 PIK3CA p.Glu726Lys VAR_069256 rs867262025
12 PIK3CA p.Gly914Arg VAR_069257 rs587776932
13 PIK3CA p.Thr1025Ala VAR_069258 rs397517202
14 PIK3CA p.Gly1049Ser VAR_069259 rs121913277
15 PIK3CA p.Ile112Asn VAR_075634 rs863225460

ClinVar genetic disease variations for Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, Somatic:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PIK3CA NM_006218.3(PIK3CA): c.1633G> A (p.Glu545Lys) single nucleotide variant Pathogenic/Likely pathogenic rs104886003 GRCh37 Chromosome 3, 178936091: 178936091
2 PIK3CA NM_006218.3(PIK3CA): c.2740G> A (p.Gly914Arg) single nucleotide variant Pathogenic/Likely pathogenic rs587776932 GRCh37 Chromosome 3, 178947865: 178947865
3 PIK3CA NM_006218.3(PIK3CA): c.1133G> A (p.Cys378Tyr) single nucleotide variant Pathogenic rs397514565 GRCh37 Chromosome 3, 178922364: 178922364
4 PIK3CA NM_006218.3(PIK3CA): c.3139C> T (p.His1047Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs121913281 GRCh37 Chromosome 3, 178952084: 178952084
5 PIK3CA NM_006218.3(PIK3CA): c.1357_1359delGAA (p.Glu453del) deletion Pathogenic rs587776933 GRCh37 Chromosome 3, 178928079: 178928081
6 PIK3R2 NM_005027.3(PIK3R2): c.1117G> A (p.Gly373Arg) single nucleotide variant Pathogenic/Likely pathogenic rs587776934 GRCh38 Chromosome 19, 18162974: 18162974
7 AKT3 NM_005465.4(AKT3): c.686A> G (p.Asn229Ser) single nucleotide variant Pathogenic rs397514605 GRCh37 Chromosome 1, 243776983: 243776983
8 PIK3CA NM_006218.3(PIK3CA): c.335T> A (p.Ile112Asn) single nucleotide variant Pathogenic rs863225460 GRCh37 Chromosome 3, 178916948: 178916948

Expression for Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome,...

Search GEO for disease gene expression data for Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, Somatic.

Pathways for Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome,...

Pathways related to Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, Somatic according to GeneCards Suite gene sharing:

(show top 50) (show all 70)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.52 AKT3 PIK3CA
2
Show member pathways
12.42 AKT3 PIK3CA
3
Show member pathways
12.38 AKT3 PIK3CA
4
Show member pathways
12.38 AKT3 PIK3CA
5 12.33 AKT3 PIK3CA
6
Show member pathways
12.33 AKT3 PIK3CA
7
Show member pathways
12.29 AKT3 PIK3CA
8
Show member pathways
12.27 AKT3 PIK3CA
9
Show member pathways
12.26 AKT3 PIK3CA
10
Show member pathways
12.26 AKT3 PIK3CA
11
Show member pathways
12.25 AKT3 PIK3CA
12
Show member pathways
12.21 AKT3 PIK3CA
13
Show member pathways
12.19 AKT3 PIK3CA
14
Show member pathways
12.17 AKT3 PIK3CA
15
Show member pathways
12.14 AKT3 PIK3CA
16
Show member pathways
12.13 AKT3 PIK3CA
17
Show member pathways
12.13 AKT3 PIK3CA
18
Show member pathways
12.13 AKT3 PIK3CA
19 12.12 AKT3 PIK3CA
20
Show member pathways
12.1 AKT3 PIK3CA
21
Show member pathways
12.1 AKT3 PIK3CA
22
Show member pathways
12.09 AKT3 PIK3CA
23
Show member pathways
12.07 AKT3 PIK3CA
24
Show member pathways
12.04 AKT3 PIK3CA
25
Show member pathways
12.02 AKT3 PIK3CA
26
Show member pathways
12.02 AKT3 PIK3CA
27
Show member pathways
12.01 AKT3 PIK3CA
28
Show member pathways
12.01 AKT3 PIK3CA
29 11.99 AKT3 PIK3CA
30 11.99 AKT3 PIK3CA
31
Show member pathways
11.98 AKT3 PIK3CA
32
Show member pathways
11.98 AKT3 PIK3CA
33
Show member pathways
11.94 AKT3 PIK3CA
34
Show member pathways
11.91 AKT3 PIK3CA
35
Show member pathways
11.9 AKT3 PIK3CA
36
Show member pathways
11.88 AKT3 PIK3CA
37
Show member pathways
11.87 AKT3 PIK3CA
38
Show member pathways
11.84 AKT3 PIK3CA
39
Show member pathways
11.83 AKT3 PIK3CA
40
Show member pathways
11.83 AKT3 PIK3CA
41
Show member pathways
11.82 AKT3 PIK3CA
42
Show member pathways
11.81 AKT3 PIK3CA
43 11.78 AKT3 PIK3CA
44 11.77 AKT3 PIK3CA
45
Show member pathways
11.76 AKT3 PIK3CA
46 11.73 AKT3 PIK3CA
47 11.72 AKT3 PIK3CA
48 11.71 AKT3 PIK3CA
49
Show member pathways
11.68 AKT3 PIK3CA
50
Show member pathways
11.68 AKT3 PIK3CA

GO Terms for Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome,...

Biological processes related to Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, Somatic according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 positive regulation of TOR signaling GO:0032008 8.62 AKT3 PIK3CA

Molecular functions related to Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, Somatic according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protein serine/threonine kinase activity GO:0004674 8.62 AKT3 PIK3CA

Sources for Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome,...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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