EIEE4
MCID: EPL027
MIFTS: 37

Epileptic Encephalopathy, Early Infantile, 4 (EIEE4)

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 4

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 4:

Name: Epileptic Encephalopathy, Early Infantile, 4 57 74 13 72
Early Infantile Epileptic Encephalopathy 4 12 53 29 6 15
Eiee4 57 53 74
Early Myoclonic Encephalopathy 74 72
Encephalopathy, Epileptic, Early Infantile, Type 4 40
Neonatal Epilepsy with Suppression-Burst Pattern 74
Stxbp1-Related Early-Onset Encephalopathy 53
Stxbp1 Disorders 53
Eme 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
onset in neonatal period or infancy
seizures are usually intractable
seizures are fever-sensitive


HPO:

32
epileptic encephalopathy, early infantile, 4:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity neonatal onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0080436
MeSH 44 D013036
MedGen 42 C2677326
UMLS 72 C0270855 C2677326

Summaries for Epileptic Encephalopathy, Early Infantile, 4

NIH Rare Diseases : 53 Early infantile epileptic encephalopathy 4 (EIEE4) is a form of early infantile epileptic encephalopathy, which refers to a group of neurological conditions characterized by severe seizures beginning in infancy. EIEE4, specifically, is often associated with partial complex or tonic-clonic seizures, although other seizure types have been reported. Other signs and symptoms may include intellectual disability, reduced muscle tone (hypotonia), hypsarrhythmia (an irregular pattern seen on EEG), dyskinesia (involuntary movement of the body), and spastic di- or quadriplegia. EIEE4 is caused by changes (mutations) in the STXBP1 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person. For example, certain medications are often prescribed to help control seizures, although they are not always effective in all people with the condition.

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 4, also known as early infantile epileptic encephalopathy 4, is related to early myoclonic encephalopathy and erythema multiforme, and has symptoms including tremor, muscle spasticity and myoclonic seizures. An important gene associated with Epileptic Encephalopathy, Early Infantile, 4 is STXBP1 (Syntaxin Binding Protein 1). Affiliated tissues include brain, and related phenotypes are tremor and developmental regression

Disease Ontology : 12 An early infantile epileptic encephalopathy that has material basis in heterozygous mutation in the STXBP1 gene on chromosome 9q34.1.

UniProtKB/Swiss-Prot : 74 Epileptic encephalopathy, early infantile, 4: A severe form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Affected individuals have neonatal or infantile onset of seizures, profound mental retardation, and MRI evidence of brain hypomyelination.

More information from OMIM: 612164 PS308350

Related Diseases for Epileptic Encephalopathy, Early Infantile, 4

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 Epileptic Encephalopathy, Early Infantile, 72
Epileptic Encephalopathy, Early Infantile, 73 Epileptic Encephalopathy, Early Infantile, 74
Epileptic Encephalopathy, Early Infantile, 75 Epileptic Encephalopathy, Early Infantile, 76

Diseases related to Epileptic Encephalopathy, Early Infantile, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 418)
# Related Disease Score Top Affiliating Genes
1 early myoclonic encephalopathy 12.9
2 erythema multiforme 12.4
3 eosinophilia-myalgia syndrome 12.2
4 epileptic encephalopathy, early infantile, 3 11.9
5 stxbp1 encephalopathy with epilepsy 11.6
6 pulmonary fibrosis, idiopathic 11.5
7 erythromelalgia 11.4
8 pulmonary embolism 11.3
9 encephalopathy, ethylmalonic 11.2
10 alpha-1-antitrypsin deficiency 11.2
11 encephalopathy 10.7
12 cardiac arrest 10.6
13 myoclonus 10.6
14 visual epilepsy 10.4
15 seizure disorder 10.4
16 early infantile epileptic encephalopathy 10.4
17 ventricular fibrillation, paroxysmal familial, 1 10.3
18 glycine encephalopathy 10.3
19 west syndrome 10.3
20 ohtahara syndrome 10.3
21 helix syndrome 10.3
22 major affective disorder 8 10.2
23 major affective disorder 9 10.2
24 bipolar disorder 10.2
25 microcephaly 10.2
26 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.2
27 diarrhea 10.1
28 bipolar i disorder 10.1
29 hypereosinophilic syndrome 10.1
30 immunodeficiency, common variable, 10 10.1
31 substance abuse 10.1
32 kidney disease 10.1
33 syncope 10.1
34 rapidly involuting congenital hemangioma 10.1
35 respiratory failure 10.1
36 nephrotic syndrome 10.1
37 hypotonia 10.1
38 acrocallosal syndrome 10.1
39 ischemia 10.1
40 herpes simplex 10.1
41 chikungunya 10.0
42 exanthem 10.0
43 gastroenteritis 10.0
44 traumatic brain injury 10.0
45 pik3ca-related overgrowth syndrome 10.0
46 neurofibromatosis, type ii 10.0
47 hepatocellular carcinoma 10.0
48 cardiac conduction defect 10.0
49 hair whorl 10.0
50 moyamoya disease 1 10.0

Graphical network of the top 20 diseases related to Epileptic Encephalopathy, Early Infantile, 4:



Diseases related to Epileptic Encephalopathy, Early Infantile, 4

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 4

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 4:

32 (show all 21)
# Description HPO Frequency HPO Source Accession
1 tremor 32 HP:0001337
2 developmental regression 32 HP:0002376
3 spastic tetraplegia 32 HP:0002510
4 intellectual disability, severe 32 HP:0010864
5 generalized hypotonia 32 HP:0001290
6 generalized myoclonic seizures 32 HP:0002123
7 severe global developmental delay 32 HP:0011344
8 absent speech 32 HP:0001344
9 generalized tonic-clonic seizures 32 HP:0002069
10 generalized tonic seizures 32 HP:0010818
11 epileptic encephalopathy 32 HP:0200134
12 status epilepticus 32 HP:0002133
13 hypsarrhythmia 32 HP:0002521
14 spastic paraplegia 32 HP:0001258
15 hypoplasia of the corpus callosum 32 HP:0002079
16 cerebral atrophy 32 HP:0002059
17 eeg with burst suppression 32 HP:0010851
18 infantile encephalopathy 32 HP:0007105
19 epileptic spasms 32 HP:0011097
20 cerebral hypomyelination 32 HP:0006808
21 impaired horizontal smooth pursuit 32 HP:0001151

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
tremor
developmental regression
epileptic encephalopathy
status epilepticus
hypsarrhythmia
more
Head And Neck Eyes:
poor visual pursuit

Clinical features from OMIM:

612164

UMLS symptoms related to Epileptic Encephalopathy, Early Infantile, 4:


tremor, muscle spasticity, myoclonic seizures, absence seizures, tonic seizures

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 4

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 4

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 4

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 4:

# Genetic test Affiliating Genes
1 Early Infantile Epileptic Encephalopathy 4 29 STXBP1

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 4

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 4:

41
Brain

Publications for Epileptic Encephalopathy, Early Infantile, 4

Articles related to Epileptic Encephalopathy, Early Infantile, 4:

(show all 13)
# Title Authors PMID Year
1
GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. 8 71
24623842 2014
2
De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy. 8 71
19557857 2009
3
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. 8 71
18469812 2008
4
STXBP1 Encephalopathy with Epilepsy 71
27905812 2016
5
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 71
23339110 2013
6
Association of genomic deletions in the STXBP1 gene with Ohtahara syndrome. 8
22211739 2012
7
Paternal mosaicism of an STXBP1 mutation in OS. 8
21062273 2011
8
Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations. 8
20876469 2010
9
Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay. 8
20493457 2010
10
Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter. 8
18065176 2008
11
Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. 71
18487195 2008
12
STXBP1 encephalopathy is associated with awake bruxism. 38
30654231 2019
13
Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene? 38
26421060 2015

Variations for Epileptic Encephalopathy, Early Infantile, 4

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 4:

6 (show all 47)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 STXBP1 NM_003165.4(STXBP1): c.902+1G> A single nucleotide variant Pathogenic rs886041978 9:130430467-130430467 9:127668188-127668188
2 STXBP1 NM_003165.4(STXBP1): c.1006C> T (p.Gln336Ter) single nucleotide variant Pathogenic rs1057519501 9:130434372-130434372 9:127672093-127672093
3 STXBP1 NM_003165.4(STXBP1): c.87+2T> C single nucleotide variant Pathogenic rs1554775960 9:130413933-130413933 9:127651654-127651654
4 STXBP1 NM_003165.4(STXBP1): c.170-2A> G single nucleotide variant Pathogenic rs1554776674 9:130420652-130420652 9:127658373-127658373
5 STXBP1 NM_003165.4(STXBP1): c.578+1G> A single nucleotide variant Pathogenic 9:130425633-130425633 9:127663354-127663354
6 STXBP1 NM_003165.4(STXBP1): c.1631G> A (p.Gly544Asp) single nucleotide variant Pathogenic rs121918317 9:130444768-130444768 9:127682489-127682489
7 STXBP1 NM_003165.4(STXBP1): c.539G> A (p.Cys180Tyr) single nucleotide variant Pathogenic rs121918318 9:130425593-130425593 9:127663314-127663314
8 STXBP1 NM_003165.4(STXBP1): c.1328T> G (p.Met443Arg) single nucleotide variant Pathogenic rs121918319 9:130439001-130439001 9:127676722-127676722
9 STXBP1 NM_003165.4(STXBP1): c.251T> A (p.Val84Asp) single nucleotide variant Pathogenic rs121918320 9:130422313-130422313 9:127660034-127660034
10 STXBP1 NM_003165.4(STXBP1): c.1162C> T (p.Arg388Ter) single nucleotide variant Pathogenic rs121918321 9:130438134-130438134 9:127675855-127675855
11 STXBP1 NM_003165.4(STXBP1): c.169+1G> A single nucleotide variant Pathogenic rs587776641 9:130416076-130416076 9:127653797-127653797
12 STXBP1 NM_003165.4(STXBP1): c.1756G> A (p.Asp586Asn) single nucleotide variant Pathogenic rs746172968 9:130446700-130446700 9:127684421-127684421
13 STXBP1 NM_003165.4(STXBP1): c.692dup (p.Ile232fs) duplication Pathogenic 9:130428473-130428473 9:127666194-127666194
14 STXBP1 NM_003165.4(STXBP1): c.79G> T (p.Glu27Ter) single nucleotide variant Pathogenic 9:130413923-130413923 9:127651644-127651644
15 STXBP1 NM_003165.4(STXBP1): c.847G> A (p.Glu283Lys) single nucleotide variant Pathogenic rs587777310 9:130430411-130430411 9:127668132-127668132
16 STXBP1 NM_003165.4(STXBP1): c.754_755del (p.Met252fs) deletion Pathogenic rs587784454 9:130428535-130428536 9:127666256-127666257
17 STXBP1 NM_003165.4(STXBP1): c.568C> T (p.Arg190Trp) single nucleotide variant Pathogenic rs796053355 9:130425622-130425622 9:127663343-127663343
18 STXBP1 NM_003165.4(STXBP1): c.703C> T (p.Arg235Ter) single nucleotide variant Pathogenic rs796053359 9:130428484-130428484 9:127666205-127666205
19 STXBP1 NM_003165.4(STXBP1): c.875G> A (p.Arg292His) single nucleotide variant Pathogenic rs796053361 9:130430439-130430439 9:127668160-127668160
20 STXBP1 NM_003165.4(STXBP1): c.1439C> T (p.Pro480Leu) single nucleotide variant Pathogenic rs796053368 9:130440789-130440789 9:127678510-127678510
21 STXBP1 NM_003165.4(STXBP1): c.1651C> T (p.Arg551Cys) single nucleotide variant Pathogenic rs796053373 9:130444788-130444788 9:127682509-127682509
22 STXBP1 NM_003165.4(STXBP1): c.1029+1G> C single nucleotide variant Pathogenic rs727504173 9:130434396-130434396 9:127672117-127672117
23 STXBP1 NM_003165.4(STXBP1): c.1217G> A (p.Arg406His) single nucleotide variant Pathogenic rs886041246 9:130438189-130438189 9:127675910-127675910
24 STXBP1 NM_003165.4(STXBP1): c.1557T> A (p.Tyr519Ter) single nucleotide variant Pathogenic 9:130444694-130444694 9:127682415-127682415
25 STXBP1 deletion Pathogenic 9:130248090-130388197 :0-0
26 STXBP1 NM_003165.4(STXBP1): c.1492dup (p.His498fs) duplication Pathogenic 9:130442466-130442466 9:127680187-127680187
27 CFAP157 ; NIBAN2 ; PTRH1 ; SH2D3C ; STXBP1 ; TOR2A ; TTC16 GRCh37/hg19 9q34.11(chr9: 130335766-130517907) copy number loss Pathogenic 9:130335766-130517907 :0-0
28 LMX1B GRCh37/hg19 9q33.3(chr9: 129414011-129460757) copy number loss Pathogenic 9:129414011-129460757 :0-0
29 STXBP1 NM_003165.4(STXBP1): c.364C> T (p.Arg122Ter) single nucleotide variant Pathogenic rs794727792 9:130423419-130423419 9:127661140-127661140
30 STXBP1 NM_003165.4(STXBP1): c.704G> A (p.Arg235Gln) single nucleotide variant Pathogenic rs794727970 9:130428485-130428485 9:127666206-127666206
31 STXBP1 NM_003165.4(STXBP1): c.416C> T (p.Pro139Leu) single nucleotide variant Pathogenic/Likely pathogenic rs796053353 9:130423471-130423471 9:127661192-127661192
32 STXBP1 NM_003165.4(STXBP1): c.1651C> A (p.Arg551Ser) single nucleotide variant Pathogenic/Likely pathogenic rs796053373 9:130444788-130444788 9:127682509-127682509
33 STXBP1 NM_003165.4(STXBP1): c.433T> C (p.Tyr145His) single nucleotide variant Likely pathogenic rs587784455 9:130425487-130425487 9:127663208-127663208
34 STXBP1 NM_003165.4(STXBP1): c.791A> G (p.Tyr264Cys) single nucleotide variant Likely pathogenic rs1316686443 9:130428572-130428572 9:127666293-127666293
35 STXBP1 NM_003165.3(STXBP1): c.325+2_325+3del deletion Likely pathogenic rs1554776853 9:130422389-130422390 9:127660110-127660111
36 STXBP1 NM_003165.4(STXBP1): c.1111-2A> G single nucleotide variant Likely pathogenic rs1554778417 9:130438081-130438081 9:127675802-127675802
37 STXBP1 NM_003165.4(STXBP1): c.874C> T (p.Arg292Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs786205598 9:130430438-130430438 9:127668159-127668159
38 STXBP1 NM_003165.4(STXBP1): c.1680C> T (p.Asn560=) single nucleotide variant Conflicting interpretations of pathogenicity rs201809337 9:130444817-130444817 9:127682538-127682538
39 STXBP1 NM_003165.4(STXBP1): c.1702+10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs147607230 9:130444849-130444849 9:127682570-127682570
40 STXBP1 NM_003165.4(STXBP1): c.734A> G (p.His245Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs587784453 9:130428515-130428515 9:127666236-127666236
41 STXBP1 NM_003165.4(STXBP1): c.533C> T (p.Thr178Ile) single nucleotide variant Uncertain significance 9:130425587-130425587 9:127663308-127663308
42 STXBP1 NM_003165.4(STXBP1): c.714C> A (p.Asp238Glu) single nucleotide variant Uncertain significance rs587784456 9:130428495-130428495 9:127666216-127666216
43 STXBP1 NM_003165.4(STXBP1): c.1004C> T (p.Pro335Leu) single nucleotide variant Uncertain significance rs398123695 9:130434370-130434370 9:127672091-127672091
44 STXBP1 NM_003165.4(STXBP1): c.902+10C> T single nucleotide variant Likely benign rs760108945 9:130430476-130430476 9:127668197-127668197
45 STXBP1 NM_003165.4(STXBP1): c.1548C> T (p.Ser516=) single nucleotide variant Benign/Likely benign rs145304925 9:130444685-130444685 9:127682406-127682406
46 STXBP1 NM_003165.4(STXBP1): c.325+8C> T single nucleotide variant Benign/Likely benign rs117372398 9:130422395-130422395 9:127660116-127660116
47 STXBP1 NM_003165.4(STXBP1): c.247-8A> G single nucleotide variant Benign/Likely benign rs199827018 9:130422301-130422301 9:127660022-127660022

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 4:

74 (show all 18)
# Symbol AA change Variation ID SNP ID
1 STXBP1 p.Val84Asp VAR_046205 rs121918320
2 STXBP1 p.Cys180Tyr VAR_046206 rs121918318
3 STXBP1 p.Met443Arg VAR_046207 rs121918319
4 STXBP1 p.Gly544Asp VAR_046208 rs121918317
5 STXBP1 p.Glu283Lys VAR_071814 rs587777310
6 STXBP1 p.Asp285Tyr VAR_071815
7 STXBP1 p.His445Pro VAR_071816
8 STXBP1 p.Leu183Arg VAR_073149
9 STXBP1 p.Ala251Thr VAR_073150
10 STXBP1 p.Arg406His VAR_073151 rs886041246
11 STXBP1 p.Pro480Leu VAR_073153 rs796053368
12 STXBP1 p.Thr574Pro VAR_073154
13 STXBP1 p.Arg406Cys VAR_078218 rs796053367
14 STXBP1 p.Ser42Phe VAR_078631
15 STXBP1 p.Arg190Trp VAR_078633 rs796053355
16 STXBP1 p.Cys354Arg VAR_078634 rs886041337
17 STXBP1 p.Leu281Pro VAR_078758
18 STXBP1 p.Arg292His VAR_078759 rs796053361

Expression for Epileptic Encephalopathy, Early Infantile, 4

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 4.

Pathways for Epileptic Encephalopathy, Early Infantile, 4

GO Terms for Epileptic Encephalopathy, Early Infantile, 4

Sources for Epileptic Encephalopathy, Early Infantile, 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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