FEB
MCID: FML350
MIFTS: 35

Familial Febrile Seizures (FEB)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Familial Febrile Seizures

MalaCards integrated aliases for Familial Febrile Seizures:

Name: Familial Febrile Seizures 12 6 15
Familial Febrile Convulsions 12
Feb 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0111297

Summaries for Familial Febrile Seizures

Disease Ontology : 12 A brain disease characterized by seizures during childhood associated with febrile episodes without any evidence of intracranial infection or defined pathologic or traumatic cause with a familial pattern of inheritance.

MalaCards based summary : Familial Febrile Seizures, also known as familial febrile convulsions, is related to febrile seizures, familial, 10 and febrile seizures, familial, 8. An important gene associated with Familial Febrile Seizures is FEB1 (Febrile Convulsions 1), and among its related pathways/superpathways are Neuroscience and L1CAM interactions. Affiliated tissues include brain, testes and temporal lobe.

Related Diseases for Familial Febrile Seizures

Diseases in the Febrile Seizures family:

Febrile Seizures, Familial, 1 Febrile Seizures, Familial, 2
Febrile Seizures, Familial, 4 Febrile Seizures, Familial, 8
Febrile Seizures, Familial, 6 Febrile Seizures, Familial, 5
Febrile Seizures, Familial, 7 Febrile Seizures, Familial, 9
Febrile Seizures, Familial, 10 Febrile Seizures, Familial, 11
Familial Febrile Seizures

Diseases related to Familial Febrile Seizures via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 117)
# Related Disease Score Top Affiliating Genes
1 febrile seizures, familial, 10 34.3 SCN1A KCNMB3 FEB10
2 febrile seizures, familial, 8 34.2 SEPTIN14 SCN1B SCN1A GABRG2 GABRD ADGRV1
3 febrile seizures, familial, 1 34.1 SEPTIN14 SEPTIN1 SCN9A SCN1B SCN1A-AS1 SCN1A
4 febrile seizures, familial, 11 34.1 SEPTIN14 SCN1A GABRG2 GABRD
5 febrile seizures, familial, 6 34.1 SCN1B SCN1A GABRG2 FEB6
6 febrile seizures, familial, 5 34.1 SCN1B SCN1A GABRG2 FEB5
7 febrile seizures, familial, 2 34.1 SCN1B SCN1A GABRG2 FEB2
8 febrile seizures, familial, 4 33.9 SEPTIN14 SEPTIN1 SCN1B SCN1A GABRG2 GABRD
9 generalized epilepsy with febrile seizures plus, type 2 32.8 SCN9A SCN1B SCN1A GABRG2 GABRD
10 generalized epilepsy with febrile seizures plus, type 7 32.7 SCN9A SCN1B SCN1A-AS1 SCN1A GABRG2 GABRD
11 febrile seizures 31.2 SCN9A SCN1B SCN1A-AS1 SCN1A GABRG2 GABRD
12 visual epilepsy 31.1 SCN1B SCN1A GABRG2 DYRK1A
13 myoclonic epilepsy of infancy 30.8 SCN1A GABRG2
14 genetic epilepsy with febrile seizures plus 30.8 SCN9A SCN1A
15 early myoclonic encephalopathy 30.7 SCN1B SCN1A GABRG2 GABRD
16 generalized epilepsy with febrile seizures plus 30.7 SCN9A SCN1B SCN1A-AS1 SCN1A GABRG2 GABRD
17 febrile seizures, familial, 7 12.0
18 febrile seizures, familial, 9 12.0
19 scn1a seizure disorders 10.7 SCN9A SCN1A
20 early onset absence epilepsy 10.7 SCN1B SCN1A GABRG2
21 generalized epilepsy with febrile seizures plus, type 1 10.7 SCN1B SCN1A GABRG2
22 epilepsy, nocturnal frontal lobe, 1 10.7 SCN1B SCN1A GABRG2
23 paroxysmal extreme pain disorder 10.7 SCN9A SCN1B SCN1A-AS1 SCN1A
24 benign familial infantile epilepsy 10.7 SCN9A SCN1B SCN1A GABRG2
25 benign familial neonatal epilepsy 10.7 SCN1B SCN1A GABRG2
26 erythromelalgia 10.7 SCN9A SCN1A-AS1 SCN1A
27 epilepsy with generalized tonic-clonic seizures 10.7 SCN1B SCN1A GABRG2 GABRD
28 adolescence-adult electroclinical syndrome 10.7 SCN1B SCN1A GABRG2 GABRD
29 neonatal period electroclinical syndrome 10.7 SCN9A SCN1B SCN1A GABRG2 GABRD
30 childhood electroclinical syndrome 10.7 SCN1B SCN1A GABRG2 GABRD
31 electroclinical syndrome 10.7 SCN9A SCN1B SCN1A GABRG2 GABRD
32 photosensitive epilepsy 10.7 SCN1B SCN1A GABRG2
33 amyotrophic neuralgia 10.6 SEPTIN14 SEPTIN1 DCAF8
34 paramyotonia congenita of von eulenburg 10.6 SCN9A SCN1B SCN1A
35 brachial plexus neuropathy 10.6 SEPTIN14 SEPTIN1 DCAF8
36 lennox-gastaut syndrome 10.6 SCN9A SCN1B SCN1A GABRG2 GABRD
37 benign neonatal seizures 10.6 SCN1B SCN1A GABRG2
38 epileptic encephalopathy, early infantile, 6 10.6 SCN9A SCN1B SCN1A GABRG2 GABRD
39 autosomal dominant nocturnal frontal lobe epilepsy 10.6 SCN1B SCN1A KCNMB3 GABRG2 GABRD
40 epilepsy, familial temporal lobe, 5 10.6 SCN9A SCN1B SCN1A GABRG2 GABRD ADGRV1
41 benign epilepsy with centrotemporal spikes 10.6 SCN9A SCN1B SCN1A GABRG2 GABRD
42 indifference to pain, congenital, autosomal recessive 10.6 SCN9A SCN1A-AS1
43 epilepsy, idiopathic generalized 10.6 SCN9A SCN1B SCN1A KCNMB3 GABRG2 GABRD
44 epilepsy 10.6 SCN9A SCN1B SCN1A-AS1 SCN1A GABRG2 GABRD
45 verbal auditory agnosia 10.6 SCN1B GABRG2
46 epilepsy, myoclonic juvenile 10.6 SCN1B SCN1A GABRG2 GABRD
47 early infantile epileptic encephalopathy 10.6 SCN9A SCN1B SCN1A GABRG2 GABRD
48 episodic pain syndrome, familial, 2 10.6 SCN9A SCN1A
49 epileptic encephalopathy, early infantile, 13 10.6 SCN1B SCN1A
50 childhood absence epilepsy 10.6 SCN1B SCN1A GABRG2 GABRD

Graphical network of the top 20 diseases related to Familial Febrile Seizures:



Diseases related to Familial Febrile Seizures

Symptoms & Phenotypes for Familial Febrile Seizures

Drugs & Therapeutics for Familial Febrile Seizures

Search Clinical Trials , NIH Clinical Center for Familial Febrile Seizures

Genetic Tests for Familial Febrile Seizures

Anatomical Context for Familial Febrile Seizures

MalaCards organs/tissues related to Familial Febrile Seizures:

40
Brain, Testes, Temporal Lobe

Publications for Familial Febrile Seizures

Articles related to Familial Febrile Seizures:

(show all 22)
# Title Authors PMID Year
1
Novel GABRG2 mutations cause familial febrile seizures. 61
27066572 2015
2
Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophrenia. 61
26528127 2015
3
Duplications of 17q12 can cause familial fever-related epilepsy syndromes. 61
24049133 2013
4
NaV1.1 channels and epilepsy. 61
20194124 2010
5
Sudden death, febrile seizures, and hippocampal and temporal lobe maldevelopment in toddlers: a new entity. 61
19606910 2009
6
A case report of a family with overlapping features of autosomal dominant febrile seizures and GEFS+. 61
19054398 2009
7
A novel genetic locus for familial febrile seizures and epilepsy on chromosome 3q26.2-q26.33. 61
18830713 2008
8
[Association between familial febrile convulsions and HCN2 gene]. 61
15932727 2005
9
Febrile seizures. From molecular biology to clinical practice. 61
22473178 2005
10
[Five single nucleotide polymorphisms of casein kinase I gamma 2 gene in children with familial febrile convulsions]. 61
15300631 2004
11
Phenotypic features of familial febrile seizures: case-control study. 61
12578920 2003
12
A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures. 61
12402266 2002
13
Lack of SCN1A mutations in familial febrile seizures. 61
12027919 2002
14
Characterization and in silico mapping of a novel murine zinc finger transcription factor. 61
12036583 2002
15
Hippocampal malformation as a cause of familial febrile convulsions and subsequent hippocampal sclerosis. 1998. 61
11775604 2001
16
[Familial febrile convulsions is supposed to link to human chromosome 19p13.3]. 61
11798847 2001
17
[The genotype-based haplotype relative risk and transmission disequilibrium test analyses of familial febrile convulsions]. 61
10514535 1999
18
Hippocampal malformation as a cause of familial febrile convulsions and subsequent hippocampal sclerosis. 61
10331715 1999
19
Characteristics of the initial seizure in familial febrile seizures. 61
10325737 1999
20
Hippocampal malformation as a cause of familial febrile convulsions and subsequent hippocampal sclerosis. 61
9566371 1998
21
Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest. 61
9384604 1998
22
Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21. 61
8730286 1996

Variations for Familial Febrile Seizures

ClinVar genetic disease variations for Familial Febrile Seizures:

6 (show top 50) (show all 156) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SCN9A NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys)SNV Conflicting interpretations of pathogenicity 30357 rs200945460 2:167137018-167137018 2:166280508-166280508
2 SCN9A NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu)SNV Conflicting interpretations of pathogenicity 94090 rs4369876 2:167129256-167129256 2:166272746-166272746
3 SCN9A NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys)SNV Conflicting interpretations of pathogenicity 130260 rs199692186 2:167129258-167129258 2:166272748-166272748
4 SCN9A NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser)SNV Conflicting interpretations of pathogenicity 130265 rs141268327 2:167094638-167094638 2:166238128-166238128
5 SCN9A NM_001365536.1(SCN9A):c.2248A>G (p.Ile750Val)SNV Conflicting interpretations of pathogenicity 157597 rs182650126 2:167136962-167136962 2:166280452-166280452
6 SCN9A NM_001365536.1(SCN9A):c.1555G>A (p.Glu519Lys)SNV Conflicting interpretations of pathogenicity 193859 rs187453572 2:167142893-167142893 2:166286383-166286383
7 SCN9A NM_001365536.1(SCN9A):c.3684T>C (p.Tyr1228=)SNV Conflicting interpretations of pathogenicity 195488 rs144941725 2:167094721-167094721 2:166238211-166238211
8 SCN9A NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val)SNV Conflicting interpretations of pathogenicity 195592 rs180922748 2:167089942-167089942 2:166233432-166233432
9 SCN9A NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=)SNV Conflicting interpretations of pathogenicity 195816 rs188336294 2:167083161-167083161 2:166226651-166226651
10 SCN9A NM_001365536.1(SCN9A):c.5711G>A (p.Arg1904His)SNV Conflicting interpretations of pathogenicity 234820 rs79805025 2:167055438-167055438 2:166198928-166198928
11 SCN9A NM_001365536.1(SCN9A):c.2461G>A (p.Val821Met)SNV Conflicting interpretations of pathogenicity 254095 rs41268671 2:167134706-167134706 2:166278196-166278196
12 SCN9A NM_001365536.1(SCN9A):c.1464C>T (p.Leu488=)SNV Conflicting interpretations of pathogenicity 291185 rs200682458 2:167142984-167142984 2:166286474-166286474
13 SCN9A NM_001365536.1(SCN9A):c.*3102C>TSNV Conflicting interpretations of pathogenicity 331898 rs182687583 2:167052080-167052080 2:166195570-166195570
14 SCN9A NM_001365536.1(SCN9A):c.4495C>A (p.Arg1499=)SNV Conflicting interpretations of pathogenicity 331963 rs187558439 2:167060878-167060878 2:166204368-166204368
15 SCN9A NM_001365536.1(SCN9A):c.1980G>A (p.Thr660=)SNV Conflicting interpretations of pathogenicity 331984 rs200014315 2:167138313-167138313 2:166281803-166281803
16 SCN9A NM_001365536.1(SCN9A):c.213G>A (p.Val71=)SNV Conflicting interpretations of pathogenicity 332000 rs200240989 2:167168054-167168054 2:166311544-166311544
17 SCN9A NM_001365536.1(SCN9A):c.*3426A>TSNV Conflicting interpretations of pathogenicity 331895 rs186838828 2:167051756-167051756 2:166195246-166195246
18 SCN9A NM_001365536.1(SCN9A):c.*1014G>ASNV Conflicting interpretations of pathogenicity 331937 rs200393413 2:167054168-167054168 2:166197658-166197658
19 SCN9A NM_001365536.1(SCN9A):c.*124A>GSNV Conflicting interpretations of pathogenicity 331959 rs201137748 2:167055058-167055058 2:166198548-166198548
20 SCN9A NM_001365536.1(SCN9A):c.3368G>A (p.Ser1123Asn)SNV Conflicting interpretations of pathogenicity 331971 rs141040985 2:167108379-167108379 2:166251869-166251869
21 SCN9A NM_001365536.1(SCN9A):c.1793G>A (p.Arg598His)SNV Conflicting interpretations of pathogenicity 331986 rs201318927 2:167141144-167141144 2:166284634-166284634
22 SCN9A NM_001365536.1(SCN9A):c.1713C>T (p.Ala571=)SNV Conflicting interpretations of pathogenicity 331987 rs200876333 2:167141224-167141224 2:166284714-166284714
23 SCN9A NM_001365536.1(SCN9A):c.1619G>A (p.Arg540His)SNV Conflicting interpretations of pathogenicity 331988 rs199748300 2:167141318-167141318 2:166284808-166284808
24 SCN9A NM_001365536.1(SCN9A):c.1208T>C (p.Met403Thr)SNV Conflicting interpretations of pathogenicity 331992 rs199986805 2:167145053-167145053 2:166288543-166288543
25 SCN9A NM_001365536.1(SCN9A):c.2852T>C (p.Val951Ala)SNV Conflicting interpretations of pathogenicity 331979 rs201890077 2:167133515-167133515 2:166277005-166277005
26 SCN9A NM_001365536.1(SCN9A):c.*2226T>GSNV Conflicting interpretations of pathogenicity 331915 rs141310425 2:167052956-167052956 2:166196446-166196446
27 SCN9A NM_001365536.1(SCN9A):c.*785C>TSNV Conflicting interpretations of pathogenicity 331943 rs181229506 2:167054397-167054397 2:166197887-166197887
28 SCN9A NM_001365536.1(SCN9A):c.3944T>C (p.Ile1315Thr)SNV Conflicting interpretations of pathogenicity 331965 rs202235611 2:167085463-167085463 2:166228953-166228953
29 SCN9A NM_001365536.1(SCN9A):c.2496A>C (p.Ser832=)SNV Conflicting interpretations of pathogenicity 331981 rs200185692 2:167134671-167134671 2:166278161-166278161
30 SCN9A NM_001365536.1(SCN9A):c.965+13T>CSNV Conflicting interpretations of pathogenicity 331997 rs772337722 2:167151096-167151096 2:166294586-166294586
31 SCN9A NM_001365536.1(SCN9A):c.129T>C (p.Asp43=)SNV Conflicting interpretations of pathogenicity 332001 rs200826539 2:167168138-167168138 2:166311628-166311628
32 SCN9A NM_001365536.1(SCN9A):c.-277C>TSNV Conflicting interpretations of pathogenicity 332003 rs201445594 2:167232433-167232433 2:166375923-166375923
33 SCN9A NM_001365536.1(SCN9A):c.*2228G>TSNV Conflicting interpretations of pathogenicity 331914 rs200790957 2:167052954-167052954 2:166196444-166196444
34 SCN9A NM_001365536.1(SCN9A):c.*2191G>ASNV Conflicting interpretations of pathogenicity 331918 rs201184093 2:167052991-167052991 2:166196481-166196481
35 SCN9A NM_001365536.1(SCN9A):c.*2078C>TSNV Conflicting interpretations of pathogenicity 331923 rs548072061 2:167053104-167053104 2:166196594-166196594
36 SCN9A NM_001365536.1(SCN9A):c.*2344C>TSNV Conflicting interpretations of pathogenicity 331910 rs200962814 2:167052838-167052838 2:166196328-166196328
37 SCN9A NM_001365536.1(SCN9A):c.*669A>GSNV Conflicting interpretations of pathogenicity 331945 rs538508619 2:167054513-167054513 2:166198003-166198003
38 SCN9A NM_001365536.1(SCN9A):c.*217G>ASNV Conflicting interpretations of pathogenicity 331954 rs200625860 2:167054965-167054965 2:166198455-166198455
39 SCN9A NM_001365536.1(SCN9A):c.3801T>C (p.Asp1267=)SNV Conflicting interpretations of pathogenicity 331967 rs202047865 2:167094604-167094604 2:166238094-166238094
40 SCN9A NM_001365536.1(SCN9A):c.3343A>G (p.Ser1115Gly)SNV Conflicting interpretations of pathogenicity 331972 rs201984007 2:167128917-167128917 2:166272407-166272407
41 SCN9A NM_001365536.1(SCN9A):c.3020G>A (p.Arg1007His)SNV Conflicting interpretations of pathogenicity 331974 rs188145203 2:167129240-167129240 2:166272730-166272730
42 SCN9A NM_001365536.1(SCN9A):c.5379G>A (p.Ala1793=)SNV Conflicting interpretations of pathogenicity 331961 rs201875421 2:167055770-167055770 2:166199260-166199260
43 SCN9A NM_001365536.1(SCN9A):c.4503+8_4503+9insTinsertion Conflicting interpretations of pathogenicity 331962 rs767624579 2:167060861-167060862 2:166204351-166204352
44 SCN9A NM_001365536.1(SCN9A):c.1482G>T (p.Lys494Asn)SNV Conflicting interpretations of pathogenicity 331990 rs777699798 2:167142966-167142966 2:166286456-166286456
45 SCN9A NM_001365536.1(SCN9A):c.1347T>C (p.Ser449=)SNV Conflicting interpretations of pathogenicity 331991 rs201990547 2:167143101-167143101 2:166286591-166286591
46 SCN9A NM_001365536.1(SCN9A):c.1139T>A (p.Ile380Asn)SNV Conflicting interpretations of pathogenicity 331994 rs188798505 2:167145122-167145122 2:166288612-166288612
47 SCN9A NM_001365536.1(SCN9A):c.685C>A (p.Pro229Thr)SNV Conflicting interpretations of pathogenicity 331998 rs755653914 2:167160751-167160751 2:166304241-166304241
48 SCN9A NM_001365536.1(SCN9A):c.274A>T (p.Asn92Tyr)SNV Uncertain significance 331999 rs747265095 2:167163569-167163569 2:166307059-166307059
49 SCN9A NM_001365536.1(SCN9A):c.1207A>C (p.Met403Leu)SNV Uncertain significance 331993 rs746956041 2:167145054-167145054 2:166288544-166288544
50 SCN9A NM_001365536.1(SCN9A):c.4434_4436GAA[1] (p.Lys1480del)short repeat Uncertain significance 331964 rs886055050 2:167060934-167060936 2:166204424-166204426

Expression for Familial Febrile Seizures

Search GEO for disease gene expression data for Familial Febrile Seizures.

Pathways for Familial Febrile Seizures

Pathways related to Familial Febrile Seizures according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 12.16 SCN9A SCN1B SCN1A DYRK1A
2
Show member pathways
11.53 SCN9A SCN1B SCN1A
3
Show member pathways
11.01 SCN9A SCN1B SCN1A
4 10.39 GABRG2 GABRD
5 10.28 SCN9A SCN1B SCN1A

GO Terms for Familial Febrile Seizures

Cellular components related to Familial Febrile Seizures according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell division site GO:0032153 9.43 SEPTIN14 SEPTIN1
2 axon GO:0030424 9.43 SCN9A SCN1B SCN1A GABRG2 GABRD DYRK1A
3 GABA-A receptor complex GO:1902711 9.4 GABRG2 GABRD
4 node of Ranvier GO:0033268 9.37 SCN1B SCN1A
5 septin complex GO:0031105 9.32 SEPTIN14 SEPTIN1
6 septin ring GO:0005940 9.26 SEPTIN14 SEPTIN1
7 sodium channel complex GO:0034706 9.16 SCN1B SCN1A
8 voltage-gated sodium channel complex GO:0001518 8.8 SCN9A SCN1B SCN1A

Biological processes related to Familial Febrile Seizures according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 regulation of ion transmembrane transport GO:0034765 9.7 SCN9A SCN1B SCN1A
2 sodium ion transport GO:0006814 9.69 SCN9A SCN1B SCN1A
3 ion transmembrane transport GO:0034220 9.67 SCN9A SCN1A GABRG2 GABRD
4 regulation of membrane potential GO:0042391 9.63 SCN1A GABRG2 GABRD
5 sodium ion transmembrane transport GO:0035725 9.5 SCN9A SCN1B SCN1A
6 cytoskeleton-dependent cytokinesis GO:0061640 9.49 SEPTIN14 SEPTIN1
7 action potential GO:0001508 9.48 SCN1A KCNMB3
8 membrane depolarization during action potential GO:0086010 9.43 SCN9A SCN1A
9 ion transport GO:0006811 9.43 SCN9A SCN1B SCN1A KCNMB3 GABRG2 GABRD
10 cardiac muscle cell action potential involved in contraction GO:0086002 9.4 SCN1B SCN1A
11 nervous system process GO:0050877 9.33 GABRG2 GABRD ADGRV1
12 neuronal action potential propagation GO:0019227 9.26 SCN1B SCN1A
13 neuronal action potential GO:0019228 8.8 SCN9A SCN1A KCNMB3

Molecular functions related to Familial Febrile Seizures according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.5 SCN9A SCN1B SCN1A
2 ion channel activity GO:0005216 9.46 SCN9A SCN1A GABRG2 GABRD
3 GABA-A receptor activity GO:0004890 9.26 GABRG2 GABRD
4 sodium channel activity GO:0005272 9.13 SCN9A SCN1B SCN1A
5 voltage-gated sodium channel activity GO:0005248 8.8 SCN9A SCN1B SCN1A

Sources for Familial Febrile Seizures

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
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44 MESH via Orphanet
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50 NDF-RT
53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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