MCID: EPL068
MIFTS: 35

Epileptic Encephalopathy, Early Infantile, 7

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 7

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

Name: Epileptic Encephalopathy, Early Infantile, 7 53 71 13 69
Eiee7 53 71
Early Infantile Epileptic Encephalopathy with Suppression Bursts 69
Kcnq2-Related Neonatal Epileptic Encephalopathy 55
Early Infantile Epileptic Encephalopathy 7 28
Kcnq2-Related Epileptic Encephalopathy 55
Ohtahara Syndrome 71
Kcnq2-Nee 55

Characteristics:

Orphanet epidemiological data:

55
kcnq2-related epileptic encephalopathy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
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:

31
epileptic encephalopathy, early infantile, 7:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 55  
Rare neurological diseases


Summaries for Epileptic Encephalopathy, Early Infantile, 7

OMIM : 53 EIEE7 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). Mutation in the KCNQ2 gene can also cause benign familial neonatal seizures-1 (BFNS1; 121200). (613720)

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 7, also known as eiee7, is related to epileptic encephalopathy, early infantile, 15 and benign familial neonatal epilepsy, and has symptoms including seizures, dystonia and intellectual disability. 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.

UniProtKB/Swiss-Prot : 71 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 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, 25
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

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

(show all 21)
# Related Disease Score Top Affiliating Genes
1 epileptic encephalopathy, early infantile, 15 12.0
2 benign familial neonatal epilepsy 11.2
3 kcnq2-related disorders 11.2
4 epileptic encephalopathy, early infantile, 1 11.2
5 scn2a related disorders 10.9
6 encephalopathy 10.3
7 infantile epileptic encephalopathy 10.2
8 epileptic encephalopathy, early infantile, 3 10.1
9 epileptic encephalopathy, early infantile, 4 10.1
10 epilepsy 10.1
11 early myoclonic encephalopathy 10.1
12 hemimegalencephaly 10.1
13 west syndrome 9.9
14 lipomatosis, multiple 9.8
15 proteus syndrome 9.8
16 cerebellar hypoplasia 9.8
17 macrocephaly/megalencephaly syndrome, autosomal recessive 9.8
18 biotinidase deficiency 9.8
19 microcephaly 9.8
20 hypertonia 9.8
21 megalencephaly 9.8

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

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
dystonia
seizures, tonic
hypotonia
mental retardation
delayed psychomotor development
more

Clinical features from OMIM:

613720

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

55 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 55 31 Frequent (79-30%) HP:0001250
2 dystonia 55 31 frequent (33%) Frequent (79-30%) HP:0001332
3 intellectual disability 55 31 obligate (100%) Obligate (100%) HP:0001249
4 muscular hypotonia 55 31 frequent (33%) Frequent (79-30%) HP:0001252
5 global developmental delay 55 31 Very frequent (99-80%) HP:0001263
6 pallor 55 31 frequent (33%) Frequent (79-30%) HP:0000980
7 feeding difficulties 55 31 frequent (33%) Frequent (79-30%) HP:0011968
8 inability to walk 55 31 frequent (33%) Frequent (79-30%) HP:0002540
9 apnea 55 31 frequent (33%) Frequent (79-30%) HP:0002104
10 cerebral edema 55 31 frequent (33%) Frequent (79-30%) HP:0002181
11 hypoplasia of the corpus callosum 55 31 occasional (7.5%) Occasional (29-5%) HP:0002079
12 cerebral atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0002059
13 hypsarrhythmia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002521
14 generalized tonic seizures 55 31 hallmark (90%) Very frequent (99-80%) HP:0010818
15 epileptic encephalopathy 55 31 hallmark (90%) Very frequent (99-80%) HP:0200134
16 profound global developmental delay 55 31 frequent (33%) Frequent (79-30%) HP:0012736
17 epileptic spasms 55 31 frequent (33%) Frequent (79-30%) HP:0011097
18 eeg with burst suppression 55 31 hallmark (90%) Very frequent (99-80%) HP:0010851
19 facial erythema 55 31 frequent (33%) Frequent (79-30%) HP:0001041
20 poor gross motor coordination 55 31 frequent (33%) Frequent (79-30%) HP:0007015
21 spastic tetraparesis 31 HP:0001285
22 generalized hypotonia 31 HP:0001290
23 abnormality of the cerebral white matter 55 Very frequent (99-80%)
24 abnormality of the globus pallidus 55 Frequent (79-30%)
25 abnormal globus pallidus morphology 31 frequent (33%) HP:0002453

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 28 KCNQ2

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 7

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

38
Brain, Globus Pallidus, Thalamus

Publications for Epileptic Encephalopathy, Early Infantile, 7

Articles related to Epileptic Encephalopathy, Early Infantile, 7:

(show all 11)
# Title Authors Year
1
STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern. ( 20887364 )
2010
2
A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome). ( 17668384 )
2007
3
Early-infantile epileptic encephalopathy with suppression-bursts, Ohtahara syndrome; its overview referring to our 16 cases. ( 11751020 )
2002
4
Neuropathology of early-infantile epileptic encephalopathy with suppression-bursts; comparison with those of early myoclonic encephalopathy and West syndrome. ( 11701285 )
2001
5
Video/EEG aspects of early-infantile epileptic encephalopathy with suppression-bursts (Ohtahara syndrome). ( 11701283 )
2001
6
Surgical treatment of early-infantile epileptic encephalopathy with suppression-bursts associated with focal cortical dysplasia. ( 11701286 )
2001
7
Surgical treatment of a case of early infantile epileptic encephalopathy with suppression-bursts associated with focal cortical dysplasia. ( 10080520 )
1999
8
MRI findings in early infantile epileptic encephalopathy with suppression-burst. ( 3241488 )
1988
9
Clinical evaluation and MRI findings in early infantile epileptic encephalopathy with suppression-burst. ( 3386190 )
1988
10
Early infantile epileptic encephalopathy with suppression burst: Ohtahara syndrome. ( 3678631 )
1987
11
The early-infantile epileptic encephalopathy with suppression-burst: developmental aspects. ( 3434712 )
1987

Variations for Epileptic Encephalopathy, Early Infantile, 7

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

71 (show all 14)
# 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 rs1057519536Epileptic
5 KCNQ2 p.Leu268Phe VAR_078208 rs1057516094Epileptic
6 KCNQ2 p.Arg291Ser VAR_078209 rs1057519535Epileptic
7 KCNQ2 p.Ala294Val VAR_078210 rs118192211
8 KCNQ2 p.Gly301Ser VAR_078211 rs1057516099Epileptic
9 KCNQ2 p.Arg581Gln VAR_078212 rs118192235
10 KCNQ2 p.Arg210Cys VAR_078665 rs796052626
11 KCNQ2 p.Arg213Gln VAR_078666 rs397514581
12 KCNQ2 p.Thr234Pro VAR_078669 rs1057516091Epileptic
13 KCNQ2 p.Thr276Ile VAR_078670 rs1057516095Epileptic
14 KCNQ2 p.Pro561Ser VAR_078675

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

6 (show top 50) (show all 83)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNQ2 NM_172107.3(KCNQ2): c.997C> T (p.Arg333Trp) single nucleotide variant Pathogenic rs118192215 GRCh37 Chromosome 20, 62070004: 62070004
2 KCNQ2 NM_172107.3(KCNQ2): c.638G> A (p.Arg213Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397514581 GRCh37 Chromosome 20, 62076064: 62076064
3 KCNQ2 NM_172107.3(KCNQ2): c.1636A> G (p.Met546Val) single nucleotide variant Pathogenic rs397515420 GRCh37 Chromosome 20, 62044930: 62044930
4 KCNQ2 NM_172107.3(KCNQ2): c.869G> A (p.Gly290Asp) single nucleotide variant Pathogenic rs397514582 GRCh37 Chromosome 20, 62071009: 62071009
5 KCNQ2 NM_172107.3(KCNQ2): c.794C> T (p.Ala265Val) single nucleotide variant Pathogenic/Likely pathogenic rs587777219 GRCh37 Chromosome 20, 62073781: 62073781
6 KCNQ2 NM_172107.3(KCNQ2): c.1197delT (p.Ser399Argfs) deletion Pathogenic rs587780365 GRCh37 Chromosome 20, 62059740: 62059740
7 KCNQ2 NM_172107.3(KCNQ2): c.793G> A (p.Ala265Thr) single nucleotide variant Pathogenic/Likely pathogenic rs794727740 GRCh37 Chromosome 20, 62073782: 62073782
8 KCNQ2 NM_172107.3(KCNQ2): c.698_699insACC (p.Val233_Thr234insPro) insertion Pathogenic rs794729197 GRCh38 Chromosome 20, 63442523: 63442524
9 KCNQ2 KCNQ2, 10-BP DEL/1-BP INS, NT761 indel Pathogenic
10 KCNQ2 NM_172107.3(KCNQ2): c.1662G> T (p.Lys554Asn) single nucleotide variant Pathogenic rs267607198 GRCh37 Chromosome 20, 62044904: 62044904
11 KCNQ2 NM_172107.3(KCNQ2): c.740C> G (p.Ser247Trp) single nucleotide variant Pathogenic rs74315392 GRCh37 Chromosome 20, 62073835: 62073835
12 KCNQ2 NM_172107.3(KCNQ2): c.620G> A (p.Arg207Gln) single nucleotide variant Pathogenic rs118192200 GRCh37 Chromosome 20, 62076082: 62076082
13 KCNQ2 NM_172107.3(KCNQ2): c.1734_1735delGCinsAA (p.Met578_Leu579delinsIleMet) indel Pathogenic rs796052665 GRCh38 Chromosome 20, 63413478: 63413479
14 KCNQ2 NM_172107.3(KCNQ2): c.1734G> C (p.Met578Ile) single nucleotide variant Pathogenic rs796052655 GRCh38 Chromosome 20, 63413479: 63413479
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.1682C> T (p.Pro561Leu) single nucleotide variant Pathogenic rs796052652 GRCh38 Chromosome 20, 63413531: 63413531
17 KCNQ2 NM_172107.3(KCNQ2): c.1678C> T (p.Arg560Trp) single nucleotide variant Pathogenic rs773171451 GRCh38 Chromosome 20, 63413535: 63413535
18 KCNQ2 NM_172107.3(KCNQ2): c.1666A> G (p.Lys556Glu) single nucleotide variant Pathogenic rs796052651 GRCh38 Chromosome 20, 63413547: 63413547
19 KCNQ2 NM_172107.3(KCNQ2): c.1657C> T (p.Arg553Trp) single nucleotide variant Pathogenic rs759584387 GRCh37 Chromosome 20, 62044909: 62044909
20 KCNQ2 NM_172107.3(KCNQ2): c.1058G> A (p.Arg353His) single nucleotide variant Pathogenic/Likely pathogenic rs796052645 GRCh37 Chromosome 20, 62065222: 62065222
21 KCNQ2 NM_172107.3(KCNQ2): c.1010C> G (p.Ala337Gly) single nucleotide variant Pathogenic rs796052643 GRCh38 Chromosome 20, 63438638: 63438638
22 KCNQ2 NM_172107.3(KCNQ2): c.915C> A (p.Phe305Leu) single nucleotide variant Pathogenic rs775918190 GRCh37 Chromosome 20, 62070963: 62070963
23 KCNQ2 NM_172107.3(KCNQ2): c.881C> T (p.Ala294Val) single nucleotide variant Pathogenic rs118192211 GRCh38 Chromosome 20, 63439644: 63439644
24 KCNQ2 NM_172107.3(KCNQ2): c.628C> T (p.Arg210Cys) single nucleotide variant Pathogenic rs796052626 GRCh38 Chromosome 20, 63444721: 63444721
25 KCNQ2 NM_172107.3(KCNQ2): c.601C> T (p.Arg201Cys) single nucleotide variant Pathogenic rs796052623 GRCh37 Chromosome 20, 62076101: 62076101
26 KCNQ2 NM_172107.3(KCNQ2): c.583T> C (p.Ser195Pro) single nucleotide variant Pathogenic rs796052620 GRCh37 Chromosome 20, 62076119: 62076119
27 KCNQ2 NM_172107.3(KCNQ2): c.431G> A (p.Arg144Gln) single nucleotide variant Pathogenic/Likely pathogenic rs796052618 GRCh37 Chromosome 20, 62076674: 62076674
28 KCNQ2 NM_172107.3(KCNQ2): c.913_915delTTC (p.Phe305del) deletion Pathogenic rs118192212 GRCh37 Chromosome 20, 62070963: 62070965
29 KCNQ2 NM_172107.3(KCNQ2): c.704C> T (p.Ala235Val) single nucleotide variant Likely pathogenic rs797045638 GRCh38 Chromosome 20, 63442518: 63442518
30 KCNQ2 NM_172107.3(KCNQ2): c.841G> T (p.Gly281Trp) single nucleotide variant Pathogenic rs794727813 GRCh38 Chromosome 20, 63439684: 63439684
31 KCNQ2 NM_172107.3(KCNQ2): c.2147C> T (p.Thr716Ile) single nucleotide variant Pathogenic rs864321711 GRCh38 Chromosome 20, 63407116: 63407116
32 KCNQ2 NM_172107.3(KCNQ2): c.943G> C (p.Gly315Arg) single nucleotide variant Pathogenic rs864321709 GRCh37 Chromosome 20, 62070058: 62070058
33 KCNQ2 NM_172107.3(KCNQ2): c.917C> T (p.Ala306Val) single nucleotide variant Pathogenic/Likely pathogenic rs864321707 GRCh38 Chromosome 20, 63439608: 63439608
34 KCNQ2 NM_172107.3(KCNQ2): c.850T> G (p.Tyr284Asp) single nucleotide variant Pathogenic rs864321706 GRCh37 Chromosome 20, 62071028: 62071028
35 KCNQ2 NM_172107.3(KCNQ2): c.803T> C (p.Leu268Pro) single nucleotide variant Pathogenic rs864321708 GRCh37 Chromosome 20, 62073772: 62073772
36 KCNQ2 NM_172107.3(KCNQ2): c.388G> A (p.Glu130Lys) single nucleotide variant Pathogenic rs864321710 GRCh38 Chromosome 20, 63445364: 63445364
37 KCNQ2 NM_172107.3(KCNQ2): c.1741C> G (p.Arg581Gly) single nucleotide variant Pathogenic rs118192236 GRCh37 Chromosome 20, 62044825: 62044825
38 KCNQ2 NM_172107.3(KCNQ2): c.629G> A (p.Arg210His) single nucleotide variant Pathogenic rs886041262 GRCh37 Chromosome 20, 62076073: 62076073
39 KCNQ2 NM_172107.3(KCNQ2): c.629G> C (p.Arg210Pro) single nucleotide variant Pathogenic rs886041262 GRCh37 Chromosome 20, 62076073: 62076073
40 KCNQ2 NM_172109.2(KCNQ2): c.1120T> C (p.Tyr374His) single nucleotide variant Pathogenic rs886042605 GRCh37 Chromosome 20, 62065160: 62065160
41 KCNQ2 NM_172107.3(KCNQ2): c.1956G> A (p.Pro652=) single nucleotide variant Pathogenic rs749070370 GRCh38 Chromosome 20, 63407307: 63407307
42 KCNQ2 NM_172107.3(KCNQ2): c.1689C> G (p.Asp563Glu) single nucleotide variant Pathogenic rs35450031 GRCh37 Chromosome 20, 62044877: 62044877
43 KCNQ2 NM_172107.3(KCNQ2): c.1658G> T (p.Arg553Leu) single nucleotide variant Pathogenic rs118192234 GRCh38 Chromosome 20, 63413555: 63413555
44 KCNQ2 NM_172107.3(KCNQ2): c.1655A> C (p.Lys552Thr) single nucleotide variant Pathogenic rs1057516122 GRCh38 Chromosome 20, 63413558: 63413558
45 KCNQ2 NM_172107.3(KCNQ2): c.1641G> A (p.Arg547=) single nucleotide variant Pathogenic rs775925162 GRCh37 Chromosome 20, 62044925: 62044925
46 KCNQ2 NM_172107.3(KCNQ2): c.1621A> G (p.Arg541Gly) single nucleotide variant Pathogenic rs1057516120 GRCh37 Chromosome 20, 62045451: 62045451
47 KCNQ2 NM_172107.3(KCNQ2): c.1501G> C (p.Ala501Pro) single nucleotide variant Pathogenic rs1057516118 GRCh38 Chromosome 20, 63414927: 63414927
48 KCNQ2 NM_172107.3(KCNQ2): c.1382A> C (p.Gln461Pro) single nucleotide variant Pathogenic rs1057516116 GRCh38 Chromosome 20, 63415046: 63415046
49 KCNQ2 NM_172107.3(KCNQ2): c.1203T> C (p.Ser401=) single nucleotide variant Pathogenic rs756007198 GRCh37 Chromosome 20, 62059734: 62059734
50 KCNQ2 NM_172107.3(KCNQ2): c.1066C> G (p.Leu356Val) single nucleotide variant Pathogenic rs1057516109 GRCh37 Chromosome 20, 62065214: 62065214

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

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