BFIC
MCID: BNG023
MIFTS: 48

Benign Familial Infantile Epilepsy (BFIC)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Benign Familial Infantile Epilepsy

MalaCards integrated aliases for Benign Familial Infantile Epilepsy:

Name: Benign Familial Infantile Epilepsy 12 74 52 58 15
Benign Familial Infantile Seizures 12 58
Bfie 12 58
Benign Familial Infantile Convulsions 58
Benign Familial Infantile Convulsion 12
Benign Familial Infantile Seizure 36
Familial Benign Neonatal Epilepsy 71
Bfic 12
Bfis 58

Characteristics:

Orphanet epidemiological data:

58
benign familial infantile epilepsy
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Benign Familial Infantile Epilepsy

KEGG : 36 Benign familial infantile seizure (BFIS) is an autosomal dominant disease characterized by focal seizures, occurring mostly in clusters, and usually first seen between 4 and 8 months of life. Psychomotor development is normal, and seizures usually resolve within the first year of life. PRRT2 has been identified as the major gene found to be mutated in 80 to 90% of cases. Recently, mutations in the genes coding for the voltage-gated sodium channel subunits has been reported.

MalaCards based summary : Benign Familial Infantile Epilepsy, also known as benign familial infantile seizures, is related to convulsions, familial infantile, with paroxysmal choreoathetosis and seizures, benign familial infantile, 3, and has symptoms including cyanosis An important gene associated with Benign Familial Infantile Epilepsy is PRRT2 (Proline Rich Transmembrane Protein 2), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Developmental Biology. The drugs Dopamine and Methylphenidate have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and thyroid, and related phenotypes are seizures and reduced consciousness/confusion

Disease Ontology : 12 An infancy electroclinical syndrome that is characterized by convulsions, with onset at age 3 to 12 months.

Wikipedia : 74 Benign familial infantile epilepsy (BFIE) is an epilepsy syndrome. Affected children, who have no other... more...

Related Diseases for Benign Familial Infantile Epilepsy

Diseases in the Epilepsy family:

Benign Familial Infantile Epilepsy Depdc5-Related Epilepsy
Kcnt1-Related Epilepsy Infectious Disease with Epilepsy
Inflammatory and Autoimmune Disease with Epilepsy Infantile Epilepsy Syndrome
Rare Epilepsy

Diseases related to Benign Familial Infantile Epilepsy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 125)
# Related Disease Score Top Affiliating Genes
1 convulsions, familial infantile, with paroxysmal choreoathetosis 33.8 SCN8A PRRT2
2 seizures, benign familial infantile, 3 32.9 SCN2A KCNQ2
3 seizures, benign familial infantile, 5 32.9 SCN8A KCNQ3
4 seizures, benign familial neonatal, 2 32.8 KCNQ3 KCNQ2
5 benign familial neonatal epilepsy 32.7 SCN2A SCN1A PRRT2 KCNQ3 KCNQ2
6 familial hemiplegic migraine 32.7 SCN1A PRRT2 CACNA1A ATP1A2
7 seizure disorder 31.1 SCN2A SCN1A KCNQ2
8 paroxysmal dyskinesia 31.1 SCN8A PRRT2 PNKD
9 genetic epilepsy with febrile seizures plus 31.0 SCN2A SCN1A
10 febrile seizures 30.9 SCN2A SCN1B SCN1A PRRT2 GABRG2
11 kcnq2-related disorders 30.9 KCNQ3 KCNQ2
12 episodic kinesigenic dyskinesia 1 30.8 SNAP25 PRRT2 PRKD1 PNKD KCNQ2
13 familial or sporadic hemiplegic migraine 30.8 SCN1A PRRT2 CACNA1A ATP1A2
14 migraine with aura 30.7 SCN1A PRRT2 CACNA1A ATP1A2
15 visual epilepsy 30.7 SCN2A SCN1B SCN1A PRRT2 KCNQ2 GABRG2
16 reflex epilepsy 30.7 SCN1A PRRT2 PNKD GABRG2 CHRNA2
17 hemiplegic migraine 30.7 SCN1A PRRT2 CACNA1A ATP1A2
18 gastroenteritis 30.6 SCN1B SCN1A PRRT2
19 movement disease 30.6 PRRT2 PNKD CACNA1A
20 focal epilepsy 30.5 SNAP25 SCN8A SCN2A SCN1B SCN1A KCNT1
21 episodic ataxia 30.4 SCN8A SCN2A SCN1A PRRT2 PNKD KCNQ3
22 epilepsy 30.3 SNAP25 SCN8A SCN2A SCN1B SCN1A PRRT2
23 benign neonatal seizures 30.3 SCN2A SCN1B SCN1A KCNT1 KCNQ3 KCNQ2
24 migraine with or without aura 1 30.1 SNAP25 SCN8A SCN2A SCN1A PRRT2 PNKD
25 autosomal dominant nocturnal frontal lobe epilepsy 30.1 SCN8A SCN2A SCN1B SCN1A PNKD KCNT1
26 generalized epilepsy with febrile seizures plus 29.9 SCN8A SCN2A SCN1B SCN1A PRRT2 KCNT1
27 epilepsy, idiopathic generalized 29.9 SCN8A SCN2A SCN1B SCN1A PRRT2 KCNT1
28 seizures, benign familial infantile, 1 11.6
29 seizures, benign familial infantile, 2 11.6
30 seizures, benign familial neonatal, 1 11.4
31 epilepsy, nocturnal frontal lobe, 4 11.3
32 paroxysmal exertion-induced dyskinesia 11.3
33 scn2a related disorders 11.3
34 familial paroxysmal nonkinesigenic dyskinesia 10.7 PRRT2 PNKD
35 scn1a seizure disorders 10.7 SCN1B SCN1A
36 hereditary episodic ataxia 10.6 SCN2A CACNA1A
37 paroxysmal nonkinesigenic dyskinesia 1 10.6 PRRT2 PNKD
38 verbal auditory agnosia 10.6 SCN1B GABRG2
39 epileptic encephalopathy, early infantile, 13 10.6 SCN8A SCN1B SCN1A
40 low-grade astrocytoma 10.6 SCN8A SCN2A SCN1A
41 central nervous system origin vertigo 10.6 SCN2A CACNA1A
42 episodic kinesigenic dyskinesia 2 10.6 PRRT2 PNKD
43 generalized epilepsy with febrile seizures plus, type 1 10.6 SCN1B SCN1A
44 sporadic hemiplegic migraine 10.6 SCN1A CACNA1A ATP1A2
45 bartter syndrome, type 4a, neonatal, with sensorineural deafness 10.6 PNKD CHRNA2
46 myoclonic epilepsy of infancy 10.6 SCN8A SCN1A GABRG2
47 epileptic encephalopathy, early infantile, 1 10.6 SCN1A KCNQ2 CACNA1A
48 malignant migrating partial seizures of infancy 10.6 SCN2A SCN1A KCNT1
49 neuropathy, hereditary sensory and autonomic, type vii 10.6 SCN2A SCN1A
50 epilepsy, familial temporal lobe, 5 10.6 SCN1B SCN1A GABRG2

Graphical network of the top 20 diseases related to Benign Familial Infantile Epilepsy:



Diseases related to Benign Familial Infantile Epilepsy

Symptoms & Phenotypes for Benign Familial Infantile Epilepsy

Human phenotypes related to Benign Familial Infantile Epilepsy:

58 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 58 31 hallmark (90%) Very frequent (99-80%) HP:0001250
2 reduced consciousness/confusion 58 31 hallmark (90%) Very frequent (99-80%) HP:0004372
3 myoclonus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001336
4 abnormality of vision 58 31 hallmark (90%) Very frequent (99-80%) HP:0000504
5 deeply set eye 58 31 hallmark (90%) Very frequent (99-80%) HP:0000490
6 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
7 dyskinesia 58 31 frequent (33%) Frequent (79-30%) HP:0100660
8 hypertonia 58 31 frequent (33%) Frequent (79-30%) HP:0001276
9 choreoathetosis 58 31 frequent (33%) Frequent (79-30%) HP:0001266
10 dysesthesia 58 31 frequent (33%) Frequent (79-30%) HP:0012534
11 nausea and vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002017
12 dysphasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002357
13 hallucinations 58 31 occasional (7.5%) Occasional (29-5%) HP:0000738
14 fatigue 58 31 occasional (7.5%) Occasional (29-5%) HP:0012378
15 memory impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0002354
16 migraine 58 31 occasional (7.5%) Occasional (29-5%) HP:0002076
17 abnormality of the eye 58 Very frequent (99-80%)
18 abnormality of movement 58 Very frequent (99-80%)

UMLS symptoms related to Benign Familial Infantile Epilepsy:


cyanosis

MGI Mouse Phenotypes related to Benign Familial Infantile Epilepsy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.13 ATP1A2 CACNA1A CLCN6 GABRG2 KCNQ2 KCNQ3
2 nervous system MP:0003631 10.06 ATP1A2 CACNA1A CHRNA2 CLCN6 GABRG2 KCNQ2
3 normal MP:0002873 9.56 ATP1A2 CACNA1A CHRNA2 GABRG2 KCNT1 SCN1A
4 respiratory system MP:0005388 9.17 ATP1A2 CACNA1A KCNQ2 SCN1A SCN2A SCN8A

Drugs & Therapeutics for Benign Familial Infantile Epilepsy

Drugs for Benign Familial Infantile Epilepsy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
2
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
3 Neurotransmitter Agents Phase 4
4 Dopamine Uptake Inhibitors Phase 4
5 Central Nervous System Stimulants Phase 4
6 Dopamine Agents Phase 4
7 Lisdexamfetamine Dimesylate Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Treatments for Fathers With Attention Deficit/Hyperactivity Disorder (ADHD) and Their At-Risk Children (Fathers Too) Completed NCT02675400 Phase 4 Vyvanse;Methylphenidate

Search NIH Clinical Center for Benign Familial Infantile Epilepsy

Genetic Tests for Benign Familial Infantile Epilepsy

Anatomical Context for Benign Familial Infantile Epilepsy

MalaCards organs/tissues related to Benign Familial Infantile Epilepsy:

40
Brain, Eye, Thyroid, Heart, Temporal Lobe

Publications for Benign Familial Infantile Epilepsy

Articles related to Benign Familial Infantile Epilepsy:

(show all 47)
# Title Authors PMID Year
1
PRRT2-Associated Paroxysmal Movement Disorders 61 6
29334453 2018
2
Autosomal dominant SCN8A mutation with an unusually mild phenotype. 61 6
27210545 2016
3
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. 61 6
22243967 2012
4
Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation. 6
26677014 2016
5
PRRT2 and hemiplegic migraine: a complex association. 6
24928127 2014
6
PRRT2 mutations are the major cause of benign familial infantile seizures. 6
22623405 2012
7
PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population. 6
22744660 2012
8
Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions. 6
22399141 2012
9
Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias. 6
22120146 2011
10
Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. 6
22101681 2011
11
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 6
20298421 2010
12
Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy. 6
20371507 2010
13
Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. 6
15048894 2004
14
Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions. 6
12953268 2003
15
Sodium-channel defects in benign familial neonatal-infantile seizures. 6
12243921 2002
16
Benign familial infantile convulsions: mapping of a novel locus on chromosome 2q24 and evidence for genetic heterogeneity. 6
11326335 2001
17
A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction. 6
11371648 2001
18
Partial cosegregation of familial hemiplegic migraine and a benign familial infantile epileptic syndrome. 6
9579893 1997
19
Benign familial neonatal seizures: clinical and electroencephalographic characteristics. 6
3508699 1986
20
Benign familial neonatal-infantile seizures. 6
6660252 1983
21
PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation? 61
31801583 2019
22
Paroxysmal and cognitive phenotypes in Prrt2 mutant mice. 61
30884140 2019
23
Compound heterozygosity with PRRT2: Pushing the phenotypic envelope in genetic epilepsies. 61
31193310 2019
24
[Phenotype study of SCN2A gene related epilepsy]. 61
29996185 2018
25
Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort. 61
29215089 2018
26
A Novel Inherited Mutation of SCN8A in a Korean Family with Benign Familial Infantile Epilepsy Using Diagnostic Exome Sequencing. 61
29263050 2017
27
[PRRT2 mutation and infantile convulsions]. 61
28870817 2017
28
Association of a synonymous SCN1B variant affecting splicing efficiency with Benign Familial Infantile Epilepsy (BFIE). 61
28566192 2017
29
A Novel Truncation Mutation of the PRRT2 Gene Resulting in a 16-Amino-Acid Protein Causes Self-inducible Paroxysmal Kinesigenic Dyskinesia. 61
30713971 2017
30
A female patient with a hot spot mutation of PRRT2 gene suffering from several types of epileptic seizures in infancy. 61
30010281 2016
31
The evolving spectrum of PRRT2-associated paroxysmal diseases. 61
26598493 2015
32
[Progress in molecular genetics of benign familial infantile epilepsy]. 61
26182513 2015
33
Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures. 61
25794116 2015
34
PRRT2 mutations are related to febrile seizures in epileptic patients. 61
25522171 2014
35
[Phenotypes and PRRT2 mutation analysis in families with benign familial infantile epilepsy]. 61
25582463 2014
36
Re-evaluation of PRRT2 mutations in paroxysmal disorders. 61
24609974 2014
37
KCNQ3-Related Disorders 61
24851285 2014
38
Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis. 61
24370076 2013
39
Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choreoathetosis syndrome, and benign convulsions with mild gastroenteritis. 61
23073245 2013
40
Mutations in PRRT2 are not a common cause of infantile epileptic encephalopathies. 61
23566103 2013
41
Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy. 61
23343561 2013
42
PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures. 61
23077018 2012
43
PRRT2 mutations cause hemiplegic migraine. 61
23077016 2012
44
Familial PRRT2 mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraine. 61
22845787 2012
45
Familial Paroxysmal Kinesigenic Dyskinesia 61
20301633 2005
46
Benign familial infantile epilepsy. 61
8021777 1994
47
Benign familial infantile epilepsy. 61
8410514 1993

Variations for Benign Familial Infantile Epilepsy

Expression for Benign Familial Infantile Epilepsy

Search GEO for disease gene expression data for Benign Familial Infantile Epilepsy.

Pathways for Benign Familial Infantile Epilepsy

Pathways related to Benign Familial Infantile Epilepsy according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.33 SCN8A SCN2A SCN1B SCN1A PRKD1 KCNT1
2
Show member pathways
13.29 SCN8A SCN2A SCN1B SCN1A LGI4 KCNQ3
3
Show member pathways
12.78 SCN8A SCN2A SCN1B SCN1A PRKD1 CACNA1A
4
Show member pathways
12.7 SNAP25 KCNQ3 KCNQ2 GABRG2 CHRNA2 CACNA1A
5
Show member pathways
12.62 SCN8A SCN2A SCN1B SCN1A ATP1A2
6 12.27 SNAP25 SCN8A SCN2A SCN1B SCN1A KCNQ2
7
Show member pathways
12.15 SCN8A SCN2A SCN1B SCN1A PRKD1 KCNT1
8 12.11 PRKD1 KCNQ3 KCNQ2 CACNA1A
9
Show member pathways
11.81 SNAP25 CACNA1A ATP1A2
10
Show member pathways
11.78 KCNT1 CLCN6 ATP1A2
11
Show member pathways
11.73 SCN8A SCN2A SCN1B SCN1A KCNQ3 KCNQ2
12
Show member pathways
11.5 SCN8A SCN2A SCN1B SCN1A
13 11.34 KCNQ3 KCNQ2 CACNA1A
14 10.58 SCN8A SCN2A SCN1B SCN1A KCNQ3 KCNQ2

GO Terms for Benign Familial Infantile Epilepsy

Cellular components related to Benign Familial Infantile Epilepsy according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.41 SNAP25 SCN8A SCN2A SCN1B SCN1A PRRT2
2 integral component of membrane GO:0016021 10.34 SCN8A SCN2A SCN1B SCN1A PRRT2 KCNT1
3 plasma membrane GO:0005886 10.33 SNAP25 SCN8A SCN2A SCN1B SCN1A PRRT2
4 integral component of plasma membrane GO:0005887 10.07 SCN2A SCN1B KCNQ3 KCNQ2 GABRG2 CHRNA2
5 synapse GO:0045202 10.01 SNAP25 PRRT2 KCNQ3 KCNQ2 GABRG2 CHRNA2
6 glutamatergic synapse GO:0098978 9.84 SNAP25 SCN2A PRRT2 CACNA1A
7 axon GO:0030424 9.8 SNAP25 SCN8A SCN2A SCN1B SCN1A PRRT2
8 intercalated disc GO:0014704 9.73 SCN2A SCN1B SCN1A ATP1A2
9 voltage-gated potassium channel complex GO:0008076 9.69 SNAP25 KCNQ3 KCNQ2
10 T-tubule GO:0030315 9.67 SCN2A SCN1B SCN1A ATP1A2
11 sodium channel complex GO:0034706 9.5 SCN2A SCN1B SCN1A
12 axon initial segment GO:0043194 9.46 SCN8A SCN1A KCNQ3 KCNQ2
13 voltage-gated sodium channel complex GO:0001518 9.26 SCN8A SCN2A SCN1B SCN1A
14 node of Ranvier GO:0033268 9.1 SCN8A SCN2A SCN1B SCN1A KCNQ3 KCNQ2

Biological processes related to Benign Familial Infantile Epilepsy according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 10.02 SCN8A SCN2A SCN1A KCNQ3 KCNQ2 CLCN6
2 potassium ion transport GO:0006813 9.83 KCNT1 KCNQ3 KCNQ2 ATP1A2
3 regulation of membrane potential GO:0042391 9.8 SCN1A GABRG2 CHRNA2 CACNA1A
4 potassium ion transmembrane transport GO:0071805 9.77 SNAP25 KCNT1 KCNQ3 KCNQ2 ATP1A2
5 sodium ion transmembrane transport GO:0035725 9.76 SCN8A SCN2A SCN1B SCN1A
6 ion transmembrane transport GO:0034220 9.76 SCN8A SCN2A SCN1A GABRG2 CLCN6 CHRNA2
7 chemical synaptic transmission GO:0007268 9.73 SNAP25 KCNQ3 KCNQ2 GABRG2 CHRNA2 CACNA1A
8 myelination GO:0042552 9.72 SCN8A SCN2A LGI4
9 sodium ion transport GO:0006814 9.72 SCN8A SCN2A SCN1B SCN1A ATP1A2
10 nervous system process GO:0050877 9.71 GABRG2 CHRNA2 CACNA1A
11 neuronal action potential GO:0019228 9.69 SCN8A SCN2A SCN1A
12 membrane depolarization GO:0051899 9.61 SCN1B CACNA1A
13 membrane depolarization during action potential GO:0086010 9.61 SCN8A SCN2A SCN1A
14 cardiac muscle cell action potential involved in contraction GO:0086002 9.6 SCN1B SCN1A
15 synaptic vesicle fusion to presynaptic active zone membrane GO:0031629 9.59 SNAP25 PRRT2
16 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.58 SCN1B ATP1A2
17 neuronal action potential propagation GO:0019227 9.58 SCN1B SCN1A
18 neuromuscular process controlling posture GO:0050884 9.58 SCN1A PRRT2 PNKD
19 neurotransmitter uptake GO:0001504 9.57 SNAP25 ATP1A2
20 locomotion GO:0040011 9.56 SCN1B ATP1A2
21 regulation of ion transmembrane transport GO:0034765 9.5 SCN8A SCN2A SCN1B SCN1A KCNQ3 KCNQ2
22 ion transport GO:0006811 9.4 SCN8A SCN2A SCN1B SCN1A KCNT1 KCNQ3

Molecular functions related to Benign Familial Infantile Epilepsy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sodium channel activity GO:0005272 9.56 SCN8A SCN2A SCN1B SCN1A
2 potassium channel activity GO:0005267 9.54 KCNT1 KCNQ3 KCNQ2
3 voltage-gated potassium channel activity GO:0005249 9.5 SNAP25 KCNQ3 KCNQ2
4 voltage-gated sodium channel activity GO:0005248 9.46 SCN8A SCN2A SCN1B SCN1A
5 ion channel activity GO:0005216 9.43 SCN8A SCN2A SCN1A GABRG2 CHRNA2 CACNA1A
6 voltage-gated ion channel activity GO:0005244 9.17 SCN8A SCN2A SCN1B SCN1A KCNQ3 KCNQ2

Sources for Benign Familial Infantile Epilepsy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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