EIEE7
MCID: EPL068
MIFTS: 32

Epileptic Encephalopathy, Early Infantile, 7 (EIEE7)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 7

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 7:

Name: Epileptic Encephalopathy, Early Infantile, 7 58 76 13 74
Early Infantile Epileptic Encephalopathy 7 12 30 6 15
Kcnq2-Related Neonatal Epileptic Encephalopathy 12 60
Kcnq2-Related Epileptic Encephalopathy 12 60
Eiee7 58 76
Early Infantile Epileptic Encephalopathy with Suppression Bursts 74
Encephalopathy, Epileptic, Early Infantile, Type 7 41
Ohtahara Syndrome 76
Kcnq2-Nee 60

Characteristics:

Orphanet epidemiological data:

60
kcnq2-related epileptic encephalopathy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
multiple seizures daily at onset
seizure frequency decreases during early childhood
most patients become seizure-free by age 3 or 4 years
variable intrafamilial severity
seizures are refractory to treatment


HPO:

33
epileptic encephalopathy, early infantile, 7:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Epileptic Encephalopathy, Early Infantile, 7

OMIM : 58 Early infantile epileptic encephalopathy-7 is an autosomal dominant seizure disorder characterized by infantile onset of refractory seizures with resultant delayed neurologic development and persistent neurologic abnormalities (Borgatti et al., 2004). EEG initially shows a burst suppression pattern and later evolves to multifocal epileptiform activity. Brain imaging may show lesions in the basal ganglia. Seizures usually remit by age 3 or 4 years, with improvement of EEG abnormalities and possibly brain imaging abnormalities, but the severe neurologic deficits persist (summary by Weckhuysen et al., 2012). (613720)

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 7, also known as early infantile epileptic encephalopathy 7, is related to ohtahara syndrome and early infantile epileptic encephalopathy, and has symptoms including tonic seizures An important gene associated with Epileptic Encephalopathy, Early Infantile, 7 is KCNQ2 (Potassium Voltage-Gated Channel Subfamily Q Member 2). Affiliated tissues include brain, globus pallidus and thalamus, and related phenotypes are intellectual disability and generalized tonic seizures

Disease Ontology : 12 An early infantile epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurological development, and persistent neurologic abnormalities that has material basis in heterozygous mutation in the KCNQ2 gene on chromosome 20q13.

UniProtKB/Swiss-Prot : 76 Epileptic encephalopathy, early infantile, 7: An autosomal dominant seizure disorder characterized by infantile onset of refractory seizures with resultant delayed neurologic development and persistent neurologic abnormalities.

Related Diseases for Epileptic Encephalopathy, Early Infantile, 7

Diseases in the Early Infantile Epileptic Encephalopathy family:

Epileptic Encephalopathy, Early Infantile, 9 Epileptic Encephalopathy, Early Infantile, 8
Epileptic Encephalopathy, Early Infantile, 2 Epileptic Encephalopathy, Early Infantile, 36
Epileptic Encephalopathy, Early Infantile, 1 Epileptic Encephalopathy, Early Infantile, 6
Epileptic Encephalopathy, Early Infantile, 3 Epileptic Encephalopathy, Early Infantile, 4
Epileptic Encephalopathy, Early Infantile, 39 Epileptic Encephalopathy, Early Infantile, 5
Epileptic Encephalopathy, Early Infantile, 7 Epileptic Encephalopathy, Early Infantile, 11
Epileptic Encephalopathy, Early Infantile, 12 Epileptic Encephalopathy, Early Infantile, 13
Epileptic Encephalopathy, Early Infantile, 14 Epileptic Encephalopathy, Early Infantile, 15
Epileptic Encephalopathy, Early Infantile, 16 Epileptic Encephalopathy, Early Infantile, 17
Epileptic Encephalopathy, Early Infantile, 18 Epileptic Encephalopathy, Early Infantile, 19
Epileptic Encephalopathy, Early Infantile, 21 Epileptic Encephalopathy, Early Infantile, 23
Epileptic Encephalopathy, Early Infantile, 24 Epileptic Encephalopathy, Early Infantile, 26
Epileptic Encephalopathy, Early Infantile, 27 Epileptic Encephalopathy, Early Infantile, 28
Epileptic Encephalopathy, Early Infantile, 29 Epileptic Encephalopathy, Early Infantile, 30
Epileptic Encephalopathy, Early Infantile, 31 Epileptic Encephalopathy, Early Infantile, 32
Epileptic Encephalopathy, Early Infantile, 33 Epileptic Encephalopathy, Early Infantile, 50
Epileptic Encephalopathy, Early Infantile, 34 Epileptic Encephalopathy, Early Infantile, 35
Epileptic Encephalopathy, Early Infantile, 37 Epileptic Encephalopathy, Early Infantile, 38
Epileptic Encephalopathy, Early Infantile, 40 Epileptic Encephalopathy, Early Infantile, 41
Epileptic Encephalopathy, Early Infantile, 42 Epileptic Encephalopathy, Early Infantile, 43
Epileptic Encephalopathy, Early Infantile, 44 Epileptic Encephalopathy, Early Infantile, 45
Epileptic Encephalopathy, Early Infantile, 46 Epileptic Encephalopathy, Early Infantile, 47
Epileptic Encephalopathy, Early Infantile, 48 Epileptic Encephalopathy, Early Infantile, 49
Epileptic Encephalopathy, Early Infantile, 51 Epileptic Encephalopathy, Early Infantile, 52
Epileptic Encephalopathy, Early Infantile, 53 Epileptic Encephalopathy, Early Infantile, 54
Epileptic Encephalopathy, Early Infantile, 55 Epileptic Encephalopathy, Early Infantile, 56
Epileptic Encephalopathy, Early Infantile, 57 Epileptic Encephalopathy, Early Infantile, 58
Epileptic Encephalopathy, Early Infantile, 59 Epileptic Encephalopathy, Early Infantile, 60
Epileptic Encephalopathy, Early Infantile, 61 Epileptic Encephalopathy, Early Infantile, 62
Epileptic Encephalopathy, Early Infantile, 63 Epileptic Encephalopathy, Early Infantile, 64
Epileptic Encephalopathy, Early Infantile, 65 Epileptic Encephalopathy, Early Infantile, 66
Epileptic Encephalopathy, Early Infantile, 67 Epileptic Encephalopathy, Early Infantile, 68
Epileptic Encephalopathy, Early Infantile, 69 Epileptic Encephalopathy, Early Infantile, 70
Epileptic Encephalopathy, Early Infantile, 71

Diseases related to Epileptic Encephalopathy, Early Infantile, 7 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
# Related Disease Score Top Affiliating Genes
1 ohtahara syndrome 12.6
2 early infantile epileptic encephalopathy 12.1
3 benign familial neonatal epilepsy 11.4
4 kcnq2-related disorders 11.4
5 epileptic encephalopathy, early infantile, 1 11.3
6 encephalopathy 10.3
7 epileptic encephalopathy, early infantile, 3 10.3
8 epileptic encephalopathy, early infantile, 4 10.3
9 epilepsy 10.3
10 early myoclonic encephalopathy 10.3
11 hemimegalencephaly 10.3
12 epileptic encephalopathy, early infantile, 15 10.1
13 west syndrome 10.1
14 proteus syndrome 10.0
15 cerebellar hypoplasia 10.0
16 biotinidase deficiency 10.0
17 microcephaly 10.0
18 megalencephaly 10.0
19 hypertonia 10.0

Graphical network of the top 20 diseases related to Epileptic Encephalopathy, Early Infantile, 7:



Diseases related to Epileptic Encephalopathy, Early Infantile, 7

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 7

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 7:

60 33 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 obligate (100%) Obligate (100%) HP:0001249
2 generalized tonic seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0010818
3 epileptic encephalopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0200134
4 eeg with burst suppression 60 33 hallmark (90%) Very frequent (99-80%) HP:0010851
5 muscular hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001252
6 pallor 60 33 frequent (33%) Frequent (79-30%) HP:0000980
7 feeding difficulties 60 33 frequent (33%) Frequent (79-30%) HP:0011968
8 dystonia 60 33 frequent (33%) Frequent (79-30%) HP:0001332
9 inability to walk 60 33 frequent (33%) Frequent (79-30%) HP:0002540
10 apnea 60 33 frequent (33%) Frequent (79-30%) HP:0002104
11 cerebral edema 60 33 frequent (33%) Frequent (79-30%) HP:0002181
12 profound global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0012736
13 epileptic spasms 60 33 frequent (33%) Frequent (79-30%) HP:0011097
14 facial erythema 60 33 frequent (33%) Frequent (79-30%) HP:0001041
15 poor gross motor coordination 60 33 frequent (33%) Frequent (79-30%) HP:0007015
16 abnormal globus pallidus morphology 33 frequent (33%) HP:0002453
17 hypoplasia of the corpus callosum 60 33 occasional (7.5%) Occasional (29-5%) HP:0002079
18 cerebral atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0002059
19 hypsarrhythmia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002521
20 seizures 60 33 Frequent (79-30%) HP:0001250
21 global developmental delay 60 33 Very frequent (99-80%) HP:0001263
22 generalized hypotonia 33 HP:0001290
23 spastic tetraparesis 33 HP:0001285
24 abnormality of the cerebral white matter 60 Very frequent (99-80%)
25 abnormality of the globus pallidus 60 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
dystonia
hypotonia
mental retardation
delayed psychomotor development
spastic quadriparesis
more

Clinical features from OMIM:

613720

UMLS symptoms related to Epileptic Encephalopathy, Early Infantile, 7:


tonic seizures

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 7

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 7

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 7

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 7:

# Genetic test Affiliating Genes
1 Early Infantile Epileptic Encephalopathy 7 30 KCNQ2

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 7

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 7:

42
Brain, Globus Pallidus, Thalamus

Publications for Epileptic Encephalopathy, Early Infantile, 7

Articles related to Epileptic Encephalopathy, Early Infantile, 7:

# Title Authors Year
1
Pointed rhythmic theta waves: a unique EEG pattern in KCNQ2-related neonatal epileptic encephalopathy. ( 28832002 )
2017

Variations for Epileptic Encephalopathy, Early Infantile, 7

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 7:

76 (show all 15)
# Symbol AA change Variation ID SNP ID
1 KCNQ2 p.Ala306Thr VAR_010931 rs74315390
2 KCNQ2 p.Ser247Trp VAR_026991 rs74315392
3 KCNQ2 p.Lys554Asn VAR_026993 rs267607198
4 KCNQ2 p.Asp266Glu VAR_078207 rs105751953
5 KCNQ2 p.Leu268Phe VAR_078208 rs105751609
6 KCNQ2 p.Arg291Ser VAR_078209 rs105751953
7 KCNQ2 p.Ala294Val VAR_078210 rs118192211
8 KCNQ2 p.Gly301Ser VAR_078211 rs105751609
9 KCNQ2 p.Arg581Gln VAR_078212 rs118192235
10 KCNQ2 p.Arg201Cys VAR_078663 rs796052623
11 KCNQ2 p.Arg210Cys VAR_078665 rs796052626
12 KCNQ2 p.Arg213Gln VAR_078666 rs397514581
13 KCNQ2 p.Thr234Pro VAR_078669 rs105751609
14 KCNQ2 p.Thr276Ile VAR_078670 rs105751609
15 KCNQ2 p.Pro561Ser VAR_078675

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 7:

6 (show top 50) (show all 197)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNQ2 NM_172107.3(KCNQ2): c.821C> T (p.Thr274Met) single nucleotide variant Pathogenic rs727503974 GRCh37 Chromosome 20, 62071057: 62071057
2 KCNQ2 NM_172107.3(KCNQ2): c.821C> T (p.Thr274Met) single nucleotide variant Pathogenic rs727503974 GRCh38 Chromosome 20, 63439704: 63439704
3 KCNQ2 NM_172107.3(KCNQ2): c.793G> A (p.Ala265Thr) single nucleotide variant Pathogenic/Likely pathogenic rs794727740 GRCh37 Chromosome 20, 62073782: 62073782
4 KCNQ2 NM_172107.3(KCNQ2): c.793G> A (p.Ala265Thr) single nucleotide variant Pathogenic/Likely pathogenic rs794727740 GRCh38 Chromosome 20, 63442429: 63442429
5 KCNQ2 NM_172107.3(KCNQ2): c.841G> A (p.Gly281Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs794727813 GRCh37 Chromosome 20, 62071037: 62071037
6 KCNQ2 NM_172107.3(KCNQ2): c.841G> A (p.Gly281Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs794727813 GRCh38 Chromosome 20, 63439684: 63439684
7 KCNQ2 NM_172107.3(KCNQ2): c.698_699insACC (p.Val233_Thr234insPro) insertion Pathogenic rs794729197 GRCh37 Chromosome 20, 62073876: 62073877
8 KCNQ2 NM_172107.3(KCNQ2): c.698_699insACC (p.Val233_Thr234insPro) insertion Pathogenic rs794729197 GRCh38 Chromosome 20, 63442523: 63442524
9 KCNQ2 NM_172107.3(KCNQ2): c.2102_2104delTCT (p.Phe701del) deletion Uncertain significance rs758334927 GRCh37 Chromosome 20, 62038512: 62038514
10 KCNQ2 NM_172107.3(KCNQ2): c.2102_2104delTCT (p.Phe701del) deletion Uncertain significance rs758334927 GRCh38 Chromosome 20, 63407159: 63407161
11 KCNQ2 NM_172107.3(KCNQ2): c.1734_1735delGCinsAA (p.Met578_Leu579delinsIleMet) indel Pathogenic rs796052665 GRCh38 Chromosome 20, 63413478: 63413479
12 KCNQ2 NM_172107.3(KCNQ2): c.1734_1735delGCinsAA (p.Met578_Leu579delinsIleMet) indel Pathogenic rs796052665 GRCh37 Chromosome 20, 62044831: 62044832
13 KCNQ2 NM_172107.3(KCNQ2): c.1734G> C (p.Met578Ile) single nucleotide variant Pathogenic rs796052655 GRCh38 Chromosome 20, 63413479: 63413479
14 KCNQ2 NM_172107.3(KCNQ2): c.1734G> C (p.Met578Ile) single nucleotide variant Pathogenic rs796052655 GRCh37 Chromosome 20, 62044832: 62044832
15 KCNQ2 NM_172107.3(KCNQ2): c.1687G> A (p.Asp563Asn) single nucleotide variant Pathogenic rs796052653 GRCh38 Chromosome 20, 63413526: 63413526
16 KCNQ2 NM_172107.3(KCNQ2): c.1687G> A (p.Asp563Asn) single nucleotide variant Pathogenic rs796052653 GRCh37 Chromosome 20, 62044879: 62044879
17 KCNQ2 NM_172107.3(KCNQ2): c.1682C> T (p.Pro561Leu) single nucleotide variant Pathogenic rs796052652 GRCh38 Chromosome 20, 63413531: 63413531
18 KCNQ2 NM_172107.3(KCNQ2): c.1682C> T (p.Pro561Leu) single nucleotide variant Pathogenic rs796052652 GRCh37 Chromosome 20, 62044884: 62044884
19 KCNQ2 NM_172107.3(KCNQ2): c.1678C> T (p.Arg560Trp) single nucleotide variant Pathogenic rs773171451 GRCh38 Chromosome 20, 63413535: 63413535
20 KCNQ2 NM_172107.3(KCNQ2): c.1678C> T (p.Arg560Trp) single nucleotide variant Pathogenic rs773171451 GRCh37 Chromosome 20, 62044888: 62044888
21 KCNQ2 NM_172107.3(KCNQ2): c.1666A> G (p.Lys556Glu) single nucleotide variant Pathogenic rs1555853593 GRCh38 Chromosome 20, 63413547: 63413547
22 KCNQ2 NM_172107.3(KCNQ2): c.1666A> G (p.Lys556Glu) single nucleotide variant Pathogenic rs1555853593 GRCh37 Chromosome 20, 62044900: 62044900
23 KCNQ2 NM_172107.3(KCNQ2): c.1657C> T (p.Arg553Trp) single nucleotide variant Pathogenic rs759584387 GRCh37 Chromosome 20, 62044909: 62044909
24 KCNQ2 NM_172107.3(KCNQ2): c.1657C> T (p.Arg553Trp) single nucleotide variant Pathogenic rs759584387 GRCh38 Chromosome 20, 63413556: 63413556
25 KCNQ2 NM_172107.3(KCNQ2): c.1058G> A (p.Arg353His) single nucleotide variant Likely pathogenic rs796052645 GRCh37 Chromosome 20, 62065222: 62065222
26 KCNQ2 NM_172107.3(KCNQ2): c.1058G> A (p.Arg353His) single nucleotide variant Likely pathogenic rs796052645 GRCh38 Chromosome 20, 63433869: 63433869
27 KCNQ2 NM_172107.3(KCNQ2): c.1010C> G (p.Ala337Gly) single nucleotide variant Pathogenic rs796052643 GRCh38 Chromosome 20, 63438638: 63438638
28 KCNQ2 NM_172107.3(KCNQ2): c.1010C> G (p.Ala337Gly) single nucleotide variant Pathogenic rs796052643 GRCh37 Chromosome 20, 62069991: 62069991
29 KCNQ2 NM_172107.3(KCNQ2): c.915C> A (p.Phe305Leu) single nucleotide variant Pathogenic rs775918190 GRCh37 Chromosome 20, 62070963: 62070963
30 KCNQ2 NM_172107.3(KCNQ2): c.915C> A (p.Phe305Leu) single nucleotide variant Pathogenic rs775918190 GRCh38 Chromosome 20, 63439610: 63439610
31 KCNQ2 NM_172107.3(KCNQ2): c.881C> T (p.Ala294Val) single nucleotide variant Pathogenic rs118192211 GRCh38 Chromosome 20, 63439644: 63439644
32 KCNQ2 NM_172107.3(KCNQ2): c.881C> T (p.Ala294Val) single nucleotide variant Pathogenic rs118192211 GRCh37 Chromosome 20, 62070997: 62070997
33 KCNQ2 NM_172107.3(KCNQ2): c.628C> T (p.Arg210Cys) single nucleotide variant Pathogenic rs796052626 GRCh38 Chromosome 20, 63444721: 63444721
34 KCNQ2 NM_172107.3(KCNQ2): c.628C> T (p.Arg210Cys) single nucleotide variant Pathogenic rs796052626 GRCh37 Chromosome 20, 62076074: 62076074
35 KCNQ2 NM_172107.3(KCNQ2): c.601C> T (p.Arg201Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs796052623 GRCh37 Chromosome 20, 62076101: 62076101
36 KCNQ2 NM_172107.3(KCNQ2): c.601C> T (p.Arg201Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs796052623 GRCh38 Chromosome 20, 63444748: 63444748
37 KCNQ2 NM_172107.3(KCNQ2): c.583T> C (p.Ser195Pro) single nucleotide variant Pathogenic rs796052620 GRCh38 Chromosome 20, 63444766: 63444766
38 KCNQ2 NM_172107.3(KCNQ2): c.583T> C (p.Ser195Pro) single nucleotide variant Pathogenic rs796052620 GRCh37 Chromosome 20, 62076119: 62076119
39 KCNQ2 NM_172107.3(KCNQ2): c.431G> A (p.Arg144Gln) single nucleotide variant Pathogenic/Likely pathogenic rs796052618 GRCh37 Chromosome 20, 62076674: 62076674
40 KCNQ2 NM_172107.3(KCNQ2): c.431G> A (p.Arg144Gln) single nucleotide variant Pathogenic/Likely pathogenic rs796052618 GRCh38 Chromosome 20, 63445321: 63445321
41 KCNQ2 NM_172107.3(KCNQ2): c.913_915delTTC (p.Phe305del) deletion Pathogenic rs118192212 GRCh37 Chromosome 20, 62070963: 62070965
42 KCNQ2 NM_172107.3(KCNQ2): c.913_915delTTC (p.Phe305del) deletion Pathogenic rs118192212 GRCh38 Chromosome 20, 63439610: 63439612
43 KCNQ2 NM_172107.3(KCNQ2): c.704C> T (p.Ala235Val) single nucleotide variant Conflicting interpretations of pathogenicity rs797045638 GRCh38 Chromosome 20, 63442518: 63442518
44 KCNQ2 NM_172107.3(KCNQ2): c.704C> T (p.Ala235Val) single nucleotide variant Conflicting interpretations of pathogenicity rs797045638 GRCh37 Chromosome 20, 62073871: 62073871
45 KCNQ2 NM_172107.3(KCNQ2): c.841G> T (p.Gly281Trp) single nucleotide variant Pathogenic rs794727813 GRCh38 Chromosome 20, 63439684: 63439684
46 KCNQ2 NM_172107.3(KCNQ2): c.841G> T (p.Gly281Trp) single nucleotide variant Pathogenic rs794727813 GRCh37 Chromosome 20, 62071037: 62071037
47 KCNQ2 NM_172107.3(KCNQ2): c.2147C> T (p.Thr716Ile) single nucleotide variant Pathogenic rs864321711 GRCh38 Chromosome 20, 63407116: 63407116
48 KCNQ2 NM_172107.3(KCNQ2): c.2147C> T (p.Thr716Ile) single nucleotide variant Pathogenic rs864321711 GRCh37 Chromosome 20, 62038469: 62038469
49 KCNQ2 NM_172107.3(KCNQ2): c.943G> C (p.Gly315Arg) single nucleotide variant Pathogenic rs864321709 GRCh37 Chromosome 20, 62070058: 62070058
50 KCNQ2 NM_172107.3(KCNQ2): c.943G> C (p.Gly315Arg) single nucleotide variant Pathogenic rs864321709 GRCh38 Chromosome 20, 63438705: 63438705

Expression for Epileptic Encephalopathy, Early Infantile, 7

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 7.

Pathways for Epileptic Encephalopathy, Early Infantile, 7

GO Terms for Epileptic Encephalopathy, Early Infantile, 7

Sources for Epileptic Encephalopathy, Early Infantile, 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....