FHM1
MCID: MGR032
MIFTS: 38

Migraine, Familial Hemiplegic, 1 (FHM1)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Migraine, Familial Hemiplegic, 1

MalaCards integrated aliases for Migraine, Familial Hemiplegic, 1:

Name: Migraine, Familial Hemiplegic, 1 57 75 13
Familial Hemiplegic Migraine Type 1 53 29 6
Fhm1 57 53 75
Mhp1 57 53 75
Hemiplegic Migraine, Familial Type 1 53 73
Fhm 57 75
Migraine, Familial Hemiplegic, 1, with Progressive Cerebellar Ataxia 57
Migraine, Familial Hemiplegic 1, with Progressive Cerebellar Ataxia 53
Migraine Familial Hemiplegic with Progressive Cerebellar Ataxia 75
Migraine, Hemiplegic, Familial, Type 1 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity
subtype of migraine with aura
onset 5-30 years
symptoms usually last 30-60 minutes
pulsatile headache lasts hours to days
in severe attacks, hemiplegia or coma may last days to weeks
triggered by minor head trauma
marked clinical variability within families
allelic disorder to episodic ataxia-2 (ea2, ) and spinocerebellar ataxia-6 (sca6, )


HPO:

32
migraine, familial hemiplegic, 1:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Migraine, Familial Hemiplegic, 1

NIH Rare Diseases : 53 Familial hemiplegic migraine (FHM) is a form of migraine headache that runs in families. Migraines usually cause intense, throbbing pain in one area of the head, often accompanied by nausea, vomiting, and extreme sensitivity to light and sound. These recurrent headaches typically begin in childhood or adolescence and may last from a few hours to a few days. People with familial hemiplegic migraine experience an aura that comes before the headache. The most common symptoms associated with an aura are temporary visual changes such as blind spots (scotomas), flashing lights, zig-zagging lines, and double vision. In people with familial hemiplegic migraine, auras are also characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). An aura typically develops gradually over a few minutes and lasts about an hour. Researchers have identified three forms of familial hemiplegic migraine known as FHM1, FHM2, and FHM3. Each of the three types is caused by mutations in a different gene. Treatment varies depending on signs and symptoms and may include use of anti migraine or anti seizure medications.

MalaCards based summary : Migraine, Familial Hemiplegic, 1, also known as familial hemiplegic migraine type 1, is related to familial hemiplegic migraine and alternating hemiplegia of childhood 1, and has symptoms including fever, hemiplegia and hemiparesis. An important gene associated with Migraine, Familial Hemiplegic, 1 is CACNA1A (Calcium Voltage-Gated Channel Subunit Alpha1 A). Affiliated tissues include brain, bone and eye, and related phenotypes are nystagmus and seizures

UniProtKB/Swiss-Prot : 75 Migraine, familial hemiplegic, 1: A subtype of migraine with aura associated with ictal hemiparesis and, in some families, cerebellar ataxia and atrophy. Migraine is a disabling symptom complex of periodic headaches, usually temporal and unilateral. Headaches are often accompanied by irritability, nausea, vomiting and photophobia, preceded by constriction of the cranial arteries. Migraine with aura is characterized by recurrent attacks of reversible neurological symptoms (aura) that precede or accompany the headache. Aura may include a combination of sensory disturbances, such as blurred vision, hallucinations, vertigo, numbness and difficulty in concentrating and speaking.

Description from OMIM: 141500

Related Diseases for Migraine, Familial Hemiplegic, 1

Diseases in the Hemiplegic Migraine family:

Migraine, Familial Hemiplegic, 1 Migraine, Familial Hemiplegic, 2
Migraine, Familial Hemiplegic, 3 Familial Hemiplegic Migraine
Sporadic Hemiplegic Migraine Familial or Sporadic Hemiplegic Migraine

Diseases related to Migraine, Familial Hemiplegic, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 familial hemiplegic migraine 11.4
2 alternating hemiplegia of childhood 1 11.0
3 migraine with or without aura 1 11.0
4 migraine, familial hemiplegic, 2 11.0
5 migraine, familial hemiplegic, 3 11.0
6 depression 10.4
7 spinocerebellar ataxia 6 10.1
8 autosomal dominant cerebellar ataxia 10.1
9 encephalopathy 10.1
10 migraine with aura 10.1
11 pathologic nystagmus 10.1
12 hemiplegic migraine 10.1

Graphical network of the top 20 diseases related to Migraine, Familial Hemiplegic, 1:



Diseases related to Migraine, Familial Hemiplegic, 1

Symptoms & Phenotypes for Migraine, Familial Hemiplegic, 1

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysphasia
migraine
hemiplegia
confusion
hemiparesis
more
Neurologic Behavioral Psychiatric Manifestations:
visual hallucinations
auditory hallucinations
anxiety attacks
paranoid psychosis

Metabolic Features:
fever

Head And Neck Eyes:
hemianopic blurring of vision
nystagmus (may be permanent in 50% of patients)


Clinical features from OMIM:

141500

Human phenotypes related to Migraine, Familial Hemiplegic, 1:

32 (show all 21)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 seizures 32 occasional (7.5%) HP:0001250
3 ataxia 32 HP:0001251
4 tremor 32 occasional (7.5%) HP:0001337
5 dysphasia 32 HP:0002357
6 fever 32 HP:0001945
7 anxiety 32 HP:0000739
8 migraine 32 HP:0002076
9 psychosis 32 HP:0000709
10 agitation 32 HP:0000713
11 coma 32 HP:0001259
12 cerebellar atrophy 32 HP:0001272
13 hemiplegia 32 HP:0002301
14 confusion 32 HP:0001289
15 hemiparesis 32 HP:0001269
16 visual hallucinations 32 HP:0002367
17 drowsiness 32 HP:0002329
18 dyscalculia 32 HP:0002442
19 auditory hallucinations 32 HP:0008765
20 migraine with aura 32 HP:0002077
21 transient unilateral blurring of vision 32 HP:0001125

UMLS symptoms related to Migraine, Familial Hemiplegic, 1:


fever, hemiplegia, hemiparesis, cerebellar ataxia, hallucinations, auditory, hallucinations, visual

Drugs & Therapeutics for Migraine, Familial Hemiplegic, 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effect of Tolvaptan on Renal Plasma Flow (RPF) and Glomerular Filtration Rate (GFR) in ADPKD Completed NCT03803124 Phase 3 Tolvaptan;Placebo

Search NIH Clinical Center for Migraine, Familial Hemiplegic, 1

Genetic Tests for Migraine, Familial Hemiplegic, 1

Genetic tests related to Migraine, Familial Hemiplegic, 1:

# Genetic test Affiliating Genes
1 Familial Hemiplegic Migraine Type 1 29 CACNA1A

Anatomical Context for Migraine, Familial Hemiplegic, 1

MalaCards organs/tissues related to Migraine, Familial Hemiplegic, 1:

41
Brain, Bone, Eye, Trigeminal Ganglion, Cerebellum

Publications for Migraine, Familial Hemiplegic, 1

Articles related to Migraine, Familial Hemiplegic, 1:

(show all 29)
# Title Authors Year
1
Ten years of follow-up in a large family with familial hemiplegic migraine type 1: Clinical course and implications for treatment. ( 28856914 )
2017
2
Cerebellar Atrophy and Changes in Cytokines Associated with the CACNA1A R583Q Mutation in a Russian Familial Hemiplegic Migraine Type 1 Family. ( 28900389 )
2017
3
Hyperpolarization-activated current Ih in mouse trigeminal sensory neurons in a transgenic mouse model of familial hemiplegic migraine type-1. ( 28363781 )
2017
4
Loss of inhibition by brain natriuretic peptide over P2X3 receptors contributes to enhanced spike firing of trigeminal ganglion neurons in a mouse model of familial hemiplegic migraine type-1. ( 27346147 )
2016
5
Activity-dependent calcium, oxygen, and vascular responses in a mouse model of familial hemiplegic migraine type 1. ( 27314908 )
2016
6
Time course of downbeat positioning nystagmus in familial hemiplegic migraine type 1 treated with acetazolamide. ( 27538634 )
2016
7
Abnormal synaptic Ca(2+) homeostasis and morphology in cortical neurons of familial hemiplegic migraine type 1 mutant mice. ( 26032020 )
2015
8
Familial hemiplegic migraine type 1 associated with parkinsonism: a case report. ( 25969684 )
2015
9
Familial hemiplegic migraine type-1 mutated cav2.1 calcium channels alter inhibitory and excitatory synaptic transmission in the lateral superior olive of mice. ( 25481823 )
2015
10
Stress hormone corticosterone enhances susceptibility to cortical spreading depression in familial hemiplegic migraine type 1 mutant mice. ( 25447936 )
2015
11
Repeated encephalopathy and hemicerebral atrophy in a patient with familial hemiplegic migraine type 1. ( 25274239 )
2014
12
An altered GABA-A receptor function in spinocerebellar ataxia type 6 and familial hemiplegic migraine type 1 associated with the CACNA1A gene mutation. ( 26675662 )
2014
13
RNA expression profiling in brains of familial hemiplegic migraine type 1 knock-in mice. ( 23985897 )
2014
14
A hyperexcitability phenotype in mouse trigeminal sensory neurons expressing the R192Q Cacna1a missense mutation of familial hemiplegic migraine type-1. ( 24583041 )
2014
15
Calcium channels and synaptic transmission in familial hemiplegic migraine type 1 animal models. ( 28509957 )
2014
16
The familial hemiplegic migraine type 1 mutation K1336E affects direct G protein-mediated regulation of neuronal P/Q-type Ca2+ channels. ( 23430985 )
2013
17
The mechanism of functional up-regulation of P2X3 receptors of trigeminal sensory neurons in a genetic mouse model of familial hemiplegic migraine type 1 (FHM-1). ( 23577145 )
2013
18
Effects of familial hemiplegic migraine type 1 mutation T666M on voltage-gated calcium channel activities in trigeminal ganglion neurons. ( 22190617 )
2012
19
Familial hemiplegic migraine type 1 mutations W1684R and V1696I alter G protein-mediated regulation of Ca(V)2.1 voltage-gated calcium channels. ( 22549042 )
2012
20
Enhanced subcortical spreading depression in familial hemiplegic migraine type 1 mutant mice. ( 21490217 )
2011
21
Severe and progressive neurotransmitter release aberrations in familial hemiplegic migraine type 1 Cacna1a S218L knock-in mice. ( 20631222 )
2010
22
Androgenic suppression of spreading depression in familial hemiplegic migraine type 1 mutant mice. ( 19847904 )
2009
23
Genetic and hormonal factors modulate spreading depression and transient hemiparesis in mouse models of familial hemiplegic migraine type 1. ( 19104150 )
2009
24
Expansion of the phenotypic spectrum of the CACNA1A T666M mutation: a family with familial hemiplegic migraine type 1, cerebellar atrophy and mental retardation. ( 18279427 )
2008
25
Familial hemiplegic migraine type 1 shows no hypersensitivity to nitric oxide. ( 18384418 )
2008
26
1H-MRS alterations in the cerebellum of patients with familial hemiplegic migraine type 1. ( 15728280 )
2005
27
Effects of familial hemiplegic migraine type 1 mutations on neuronal P/Q-type Ca2+ channel activity and inhibitory synaptic transmission. ( 15699344 )
2005
28
Gating deficiency in a familial hemiplegic migraine type 1 mutant P/Q-type calcium channel. ( 15795222 )
2005
29
Familial hemiplegic migraine type 1 mutations K1336E, W1684R, and V1696I alter Cav2.1 Ca2+ channel gating: evidence for beta-subunit isoform-specific effects. ( 15448138 )
2004

Variations for Migraine, Familial Hemiplegic, 1

UniProtKB/Swiss-Prot genetic disease variations for Migraine, Familial Hemiplegic, 1:

75 (show all 15)
# Symbol AA change Variation ID SNP ID
1 CACNA1A p.Arg192Gln VAR_001491 rs121908211
2 CACNA1A p.Thr665Met VAR_001492 rs121908212
3 CACNA1A p.Val713Ala VAR_001493 rs121908213
4 CACNA1A p.Ile1809Leu VAR_001494 rs121908214
5 CACNA1A p.Arg195Lys VAR_043820 rs121908222
6 CACNA1A p.Ser218Leu VAR_043821 rs121908225
7 CACNA1A p.Arg582Gln VAR_043826 rs121908217
8 CACNA1A p.Asp714Glu VAR_043827 rs121908218
9 CACNA1A p.Lys1334Glu VAR_043829 rs121908223
10 CACNA1A p.Arg1345Gln VAR_043830 rs121908230
11 CACNA1A p.Tyr1383Cys VAR_043831 rs121908219
12 CACNA1A p.Val1455Leu VAR_043833 rs121908237
13 CACNA1A p.Arg1666Trp VAR_043838 rs121908220
14 CACNA1A p.Trp1682Arg VAR_043839 rs121908221
15 CACNA1A p.Val1694Ile VAR_063706 rs121908224

ClinVar genetic disease variations for Migraine, Familial Hemiplegic, 1:

6 (show top 50) (show all 68)
# Gene Variation Type Significance SNP ID Assembly Location
1 CACNA1A NM_001127221.1(CACNA1A): c.575G> A (p.Arg192Gln) single nucleotide variant Pathogenic rs121908211 GRCh37 Chromosome 19, 13482558: 13482558
2 CACNA1A NM_001127221.1(CACNA1A): c.575G> A (p.Arg192Gln) single nucleotide variant Pathogenic rs121908211 GRCh38 Chromosome 19, 13371744: 13371744
3 CACNA1A NM_001127221.1(CACNA1A): c.1997C> T (p.Thr666Met) single nucleotide variant Pathogenic rs121908212 GRCh37 Chromosome 19, 13414691: 13414691
4 CACNA1A NM_001127221.1(CACNA1A): c.1997C> T (p.Thr666Met) single nucleotide variant Pathogenic rs121908212 GRCh38 Chromosome 19, 13303877: 13303877
5 CACNA1A NM_001127221.1(CACNA1A): c.2141T> C (p.Val714Ala) single nucleotide variant Pathogenic rs121908213 GRCh37 Chromosome 19, 13414394: 13414394
6 CACNA1A NM_001127221.1(CACNA1A): c.2141T> C (p.Val714Ala) single nucleotide variant Pathogenic rs121908213 GRCh38 Chromosome 19, 13303580: 13303580
7 CACNA1A NM_001127221.1(CACNA1A): c.5428A> C (p.Ile1810Leu) single nucleotide variant Pathogenic rs121908214 GRCh37 Chromosome 19, 13340999: 13340999
8 CACNA1A NM_001127221.1(CACNA1A): c.5428A> C (p.Ile1810Leu) single nucleotide variant Pathogenic rs121908214 GRCh38 Chromosome 19, 13230185: 13230185
9 CACNA1A NM_001127221.1(CACNA1A): c.2145C> A (p.Asp715Glu) single nucleotide variant Pathogenic rs121908218 GRCh37 Chromosome 19, 13414390: 13414390
10 CACNA1A NM_001127221.1(CACNA1A): c.2145C> A (p.Asp715Glu) single nucleotide variant Pathogenic rs121908218 GRCh38 Chromosome 19, 13303576: 13303576
11 CACNA1A NM_001127221.1(CACNA1A): c.4151A> G (p.Tyr1384Cys) single nucleotide variant Pathogenic rs121908219 GRCh37 Chromosome 19, 13372366: 13372366
12 CACNA1A NM_001127221.1(CACNA1A): c.4151A> G (p.Tyr1384Cys) single nucleotide variant Pathogenic rs121908219 GRCh38 Chromosome 19, 13261552: 13261552
13 CACNA1A NM_001127221.1(CACNA1A): c.4366G> T (p.Val1456Leu) single nucleotide variant Pathogenic rs121908237 GRCh37 Chromosome 19, 13370403: 13370403
14 CACNA1A NM_001127221.1(CACNA1A): c.4366G> T (p.Val1456Leu) single nucleotide variant Pathogenic rs121908237 GRCh38 Chromosome 19, 13259589: 13259589
15 CACNA1A NM_001127221.1(CACNA1A): c.653C> T (p.Ser218Leu) single nucleotide variant Pathogenic rs121908225 GRCh37 Chromosome 19, 13476262: 13476262
16 CACNA1A NM_001127221.1(CACNA1A): c.653C> T (p.Ser218Leu) single nucleotide variant Pathogenic rs121908225 GRCh38 Chromosome 19, 13365448: 13365448
17 CACNA1A NM_001127221.1(CACNA1A): c.1748G> A (p.Arg583Gln) single nucleotide variant Pathogenic rs121908217 GRCh37 Chromosome 19, 13419266: 13419266
18 CACNA1A NM_001127221.1(CACNA1A): c.1748G> A (p.Arg583Gln) single nucleotide variant Pathogenic rs121908217 GRCh38 Chromosome 19, 13308452: 13308452
19 CACNA1A NM_001127221.1(CACNA1A): c.5126T> C (p.Ile1709Thr) single nucleotide variant Pathogenic rs121909326 GRCh37 Chromosome 19, 13346033: 13346033
20 CACNA1A NM_001127221.1(CACNA1A): c.5126T> C (p.Ile1709Thr) single nucleotide variant Pathogenic rs121909326 GRCh38 Chromosome 19, 13235219: 13235219
21 CACNA1A NM_001127221.1(CACNA1A): c.4037G> A (p.Arg1346Gln) single nucleotide variant Pathogenic rs121908230 GRCh37 Chromosome 19, 13373603: 13373603
22 CACNA1A NM_001127221.1(CACNA1A): c.4037G> A (p.Arg1346Gln) single nucleotide variant Pathogenic rs121908230 GRCh38 Chromosome 19, 13262789: 13262789
23 CACNA1A NG_011569.1: g.(286795_296853)_(303563_305019)del deletion Pathogenic GRCh38 Chromosome 19, 13206442: 13224666
24 CACNA1A NG_011569.1: g.(286795_296853)_(303563_305019)del deletion Pathogenic GRCh37 Chromosome 19, 13317256: 13335480
25 CACNA1A NG_011569.1: g.(286795_296853)_(303563_305019)del deletion Pathogenic GRCh38 Chromosome 19, 13206442: 13224666
26 CACNA1A NG_011569.1: g.(286795_296853)_(303563_305019)del deletion Pathogenic GRCh37 Chromosome 19, 13317256: 13335480
27 CACNA1A NM_001127221.1(CACNA1A): c.2145C> G (p.Asp715Glu) single nucleotide variant not provided rs121908218 GRCh37 Chromosome 19, 13414390: 13414390
28 CACNA1A NM_001127221.1(CACNA1A): c.2145C> G (p.Asp715Glu) single nucleotide variant not provided rs121908218 GRCh38 Chromosome 19, 13303576: 13303576
29 CACNA1A NM_001127221.1(CACNA1A): c.2754G> C (p.Glu918Asp) single nucleotide variant Benign rs16022 GRCh37 Chromosome 19, 13409696: 13409696
30 CACNA1A NM_001127221.1(CACNA1A): c.2754G> C (p.Glu918Asp) single nucleotide variant Benign rs16022 GRCh38 Chromosome 19, 13298882: 13298882
31 CACNA1A NM_001127221.1(CACNA1A): c.2978A> T (p.Glu993Val) single nucleotide variant Benign rs16023 GRCh37 Chromosome 19, 13409472: 13409472
32 CACNA1A NM_001127221.1(CACNA1A): c.2978A> T (p.Glu993Val) single nucleotide variant Benign rs16023 GRCh38 Chromosome 19, 13298658: 13298658
33 CACNA1A NM_001127221.1(CACNA1A): c.3313G> A (p.Gly1105Ser) single nucleotide variant Benign rs16027 GRCh37 Chromosome 19, 13397560: 13397560
34 CACNA1A NM_001127221.1(CACNA1A): c.3313G> A (p.Gly1105Ser) single nucleotide variant Benign rs16027 GRCh38 Chromosome 19, 13286746: 13286746
35 CACNA1A NM_001127221.1(CACNA1A): c.4003A> G (p.Lys1335Glu) single nucleotide variant not provided rs121908223 GRCh37 Chromosome 19, 13373637: 13373637
36 CACNA1A NM_001127221.1(CACNA1A): c.4003A> G (p.Lys1335Glu) single nucleotide variant not provided rs121908223 GRCh38 Chromosome 19, 13262823: 13262823
37 CACNA1A NM_001127221.1(CACNA1A): c.4999C> T (p.Arg1667Trp) single nucleotide variant Pathogenic rs121908220 GRCh37 Chromosome 19, 13346499: 13346499
38 CACNA1A NM_001127221.1(CACNA1A): c.4999C> T (p.Arg1667Trp) single nucleotide variant Pathogenic rs121908220 GRCh38 Chromosome 19, 13235685: 13235685
39 CACNA1A NM_001127221.1(CACNA1A): c.5047T> C (p.Trp1683Arg) single nucleotide variant not provided rs121908221 GRCh37 Chromosome 19, 13346451: 13346451
40 CACNA1A NM_001127221.1(CACNA1A): c.5047T> C (p.Trp1683Arg) single nucleotide variant not provided rs121908221 GRCh38 Chromosome 19, 13235637: 13235637
41 CACNA1A NM_001127221.1(CACNA1A): c.5083G> A (p.Val1695Ile) single nucleotide variant not provided rs121908224 GRCh37 Chromosome 19, 13346076: 13346076
42 CACNA1A NM_001127221.1(CACNA1A): c.5083G> A (p.Val1695Ile) single nucleotide variant not provided rs121908224 GRCh38 Chromosome 19, 13235262: 13235262
43 CACNA1A NM_001127221.1(CACNA1A): c.584G> A (p.Arg195Lys) single nucleotide variant not provided rs121908222 GRCh37 Chromosome 19, 13482549: 13482549
44 CACNA1A NM_001127221.1(CACNA1A): c.584G> A (p.Arg195Lys) single nucleotide variant not provided rs121908222 GRCh38 Chromosome 19, 13371735: 13371735
45 CACNA1A NM_001127221.1(CACNA1A): c.3549C> T (p.Val1183=) single nucleotide variant Benign rs16029 GRCh37 Chromosome 19, 13397324: 13397324
46 CACNA1A NM_001127221.1(CACNA1A): c.3549C> T (p.Val1183=) single nucleotide variant Benign rs16029 GRCh38 Chromosome 19, 13286510: 13286510
47 CACNA1A NM_001127221.1(CACNA1A): c.2094G> A (p.Thr698=) single nucleotide variant Benign rs16016 GRCh37 Chromosome 19, 13414594: 13414594
48 CACNA1A NM_001127221.1(CACNA1A): c.2094G> A (p.Thr698=) single nucleotide variant Benign rs16016 GRCh38 Chromosome 19, 13303780: 13303780
49 CACNA1A NM_001127221.1(CACNA1A): c.3060G> A (p.Arg1020=) single nucleotide variant Benign rs16025 GRCh37 Chromosome 19, 13409390: 13409390
50 CACNA1A NM_001127221.1(CACNA1A): c.3060G> A (p.Arg1020=) single nucleotide variant Benign rs16025 GRCh38 Chromosome 19, 13298576: 13298576

Expression for Migraine, Familial Hemiplegic, 1

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Pathways for Migraine, Familial Hemiplegic, 1

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