GLUT1DS1
MCID: GLT018
MIFTS: 39

Glut1 Deficiency Syndrome 1 (GLUT1DS1)

Categories: Blood diseases, Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Glut1 Deficiency Syndrome 1

MalaCards integrated aliases for Glut1 Deficiency Syndrome 1:

Name: Glut1 Deficiency Syndrome 1 58 76 30 13 6
Glut1ds1 58 76
Glut1 Deficiency Syndrome, Type 1, Infantile Onset, Severe 41
Glut1 Deficiency Syndrome 1, Infantile Onset, Severe 58
Glucose Transport Defect, Blood-Brain Barrier 58
Glut1 Deficiency Syndrome Autosomal Recessive 76
Blood-Brain Barrier Glucose Transport Defect 76
Encephalopathy Due to Glut1 Deficiency 76
Glut-1 Deficiency Syndrome 76
Glut1 Deficiency Syndrome 74
Glut1 Deficiency 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant
autosomal recessive (rare)

Miscellaneous:
onset in infancy
phenotypic variability
favorable response to a ketogenic diet
see also glut1ds2 , an allelic disorder with a less severe phenotype


HPO:

33
glut1 deficiency syndrome 1:
Onset and clinical course phenotypic variability infantile onset
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Glut1 Deficiency Syndrome 1

OMIM : 58 GLUT1 deficiency syndrome-1 is a neurologic disorder showing wide phenotypic variability. The most severe 'classic' phenotype comprises infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, motor incoordination, and spasticity. Onset of seizures, usually characterized by apneic episodes, staring spells, and episodic eye movements, occurs within the first 4 months of life. Other paroxysmal findings include intermittent ataxia, confusion, lethargy, sleep disturbance, and headache. Varying degrees of cognitive impairment can occur, ranging from learning disabilities to severe mental retardation. Hypoglycorrhachia (low CSF glucose, less than 40 mg/dl) and low CSF lactate are essentially diagnostic for the disorder. As more cases with GLUT1 deficiency syndrome were described, the phenotype was broadened to include individuals with ataxia and mental retardation but without seizures, individuals with dystonia and choreoathetosis, and rare individuals with absence seizures and no movement disorder. The disorder, which results from a defect in the GLUT1 glucose transporter causing decreased glucose concentration in the central nervous system, is part of a spectrum of neurologic phenotypes resulting from GLUT1 deficiency. GLUT deficiency syndrome-2 (612126) represents the less severe end of the phenotypic spectrum and is associated with paroxysmal exercise-induced dystonia with or without seizures. Correct diagnosis of GLUT1 deficiency is important because a ketogenic diet often results in marked clinical improvement of the motor and seizure symptoms (reviews by Pascual et al., 2004 and Brockmann, 2009). (606777)

MalaCards based summary : Glut1 Deficiency Syndrome 1, also known as glut1ds1, is related to glucose transporter type 1 deficiency syndrome and glut1 deficiency syndrome 2, and has symptoms including ataxia, sleep disturbances and muscle spasticity. An important gene associated with Glut1 Deficiency Syndrome 1 is SLC2A1 (Solute Carrier Family 2 Member 1). Affiliated tissues include brain, eye and t cells, and related phenotypes are ataxia and spasticity

Genetics Home Reference : 26 GLUT1 deficiency syndrome is a disorder affecting the nervous system that can have a variety of neurological signs and symptoms. Approximately 90 percent of affected individuals have a form of the disorder often referred to as common GLUT1 deficiency syndrome. These individuals generally have frequent seizures (epilepsy) beginning in the first months of life. In newborns, the first sign of the disorder may be involuntary eye movements that are rapid and irregular. Babies with common GLUT1 deficiency syndrome have a normal head size at birth, but growth of the brain and skull is often slow, which can result in an abnormally small head size (microcephaly). People with this form of GLUT1 deficiency syndrome may have developmental delay or intellectual disability. Most affected individuals also have other neurological problems, such as stiffness caused by abnormal tensing of the muscles (spasticity), difficulty in coordinating movements (ataxia), and speech difficulties (dysarthria). Some experience episodes of confusion, lack of energy (lethargy), headaches, or muscle twitches (myoclonus), particularly during periods without food (fasting).

UniProtKB/Swiss-Prot : 76 GLUT1 deficiency syndrome 1: A neurologic disorder showing wide phenotypic variability. The most severe 'classic' phenotype comprises infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, motor incoordination, and spasticity. Onset of seizures, usually characterized by apneic episodes, staring spells, and episodic eye movements, occurs within the first 4 months of life. Other paroxysmal findings include intermittent ataxia, confusion, lethargy, sleep disturbance, and headache. Varying degrees of cognitive impairment can occur, ranging from learning disabilities to severe mental retardation.

Wikipedia : 77 Glucose transporter 1 (or GLUT1), also known as solute carrier family 2, facilitated glucose transporter... more...

Related Diseases for Glut1 Deficiency Syndrome 1

Graphical network of the top 20 diseases related to Glut1 Deficiency Syndrome 1:



Diseases related to Glut1 Deficiency Syndrome 1

Symptoms & Phenotypes for Glut1 Deficiency Syndrome 1

Human phenotypes related to Glut1 Deficiency Syndrome 1:

33 (show all 37)
# Description HPO Frequency HPO Source Accession
1 ataxia 33 hallmark (90%) HP:0001251
2 spasticity 33 hallmark (90%) HP:0001257
3 eeg abnormality 33 hallmark (90%) HP:0002353
4 global developmental delay 33 hallmark (90%) HP:0001263
5 dystonia 33 hallmark (90%) HP:0001332
6 status epilepticus 33 hallmark (90%) HP:0002133
7 encephalopathy 33 hallmark (90%) HP:0001298
8 progressive microcephaly 33 hallmark (90%) HP:0000253
9 hypoglycorrhachia 33 hallmark (90%) HP:0011972
10 abnormal erythrocyte morphology 33 hallmark (90%) HP:0001877
11 intellectual disability 33 frequent (33%) HP:0001249
12 seizures 33 frequent (33%) HP:0001250
13 dysarthria 33 frequent (33%) HP:0001260
14 delayed speech and language development 33 frequent (33%) HP:0000750
15 muscle stiffness 33 frequent (33%) HP:0003552
16 paralysis 33 frequent (33%) HP:0003470
17 paroxysmal involuntary eye movements 33 frequent (33%) HP:0007704
18 choreoathetosis 33 frequent (33%) HP:0001266
19 lethargy 33 frequent (33%) HP:0001254
20 headache 33 frequent (33%) HP:0002315
21 cyanosis 33 frequent (33%) HP:0000961
22 confusion 33 frequent (33%) HP:0001289
23 hemiparesis 33 frequent (33%) HP:0001269
24 extrapyramidal dyskinesia 33 frequent (33%) HP:0007308
25 generalized hyperreflexia 33 frequent (33%) HP:0007034
26 sleep disturbance 33 occasional (7.5%) HP:0002360
27 strabismus 33 occasional (7.5%) HP:0000486
28 myoclonus 33 occasional (7.5%) HP:0001336
29 apraxia 33 occasional (7.5%) HP:0002186
30 central apnea 33 occasional (7.5%) HP:0002871
31 hyperreflexia 33 HP:0001347
32 abnormality of metabolism/homeostasis 33 HP:0001939
33 specific learning disability 33 HP:0001328
34 babinski sign 33 HP:0003487
35 paroxysmal dystonia 33 HP:0002268
36 postnatal microcephaly 33 HP:0005484
37 paroxysmal lethargy 33 HP:0011973

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
ataxia
spasticity
dysarthria
hyperreflexia
developmental delay
more
Head And Neck Eyes:
abnormal eye movements, paroxysmal

Head And Neck Head:
deceleration of head growth
microcephaly, acquired

Laboratory Abnormalities:
hypoglycorrhachia (low glucose in csf)
low-to-normal csf lactate
reduced erythrocyte glucose/hexose transport

Clinical features from OMIM:

606777

UMLS symptoms related to Glut1 Deficiency Syndrome 1:


ataxia, sleep disturbances, muscle spasticity, dystonia, paroxysmal

Drugs & Therapeutics for Glut1 Deficiency Syndrome 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Diet Treatment Glucose Transporter Type 1 Deficiency (G1D) Recruiting NCT03181399 Phase 2 Triheptanoin
2 Treatment Development of Triheptanoin (G1D) Active, not recruiting NCT03041363 Phase 1 Triheptanoin
3 Compatibility of C7 With Ketogenic Diet in Patients Diagnosed With G1D Enrolling by invitation NCT03301532 Early Phase 1 Triheptanoin

Search NIH Clinical Center for Glut1 Deficiency Syndrome 1

Genetic Tests for Glut1 Deficiency Syndrome 1

Genetic tests related to Glut1 Deficiency Syndrome 1:

# Genetic test Affiliating Genes
1 Glut1 Deficiency Syndrome 1 30

Anatomical Context for Glut1 Deficiency Syndrome 1

MalaCards organs/tissues related to Glut1 Deficiency Syndrome 1:

42
Brain, Eye, T Cells

Publications for Glut1 Deficiency Syndrome 1

Articles related to Glut1 Deficiency Syndrome 1:

(show all 11)
# Title Authors Year
1
A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: c.734A>C. ( 28443597 )
2017
2
Good outcome in patients with early dietary treatment of GLUT-1 deficiency syndrome: results from a retrospective Norwegian study. ( 23448551 )
2013
3
Allelic variations of glut-1 deficiency syndrome: the chinese experience. ( 22704013 )
2012
4
Uncovering microdeletions in patients with severe Glut-1 deficiency syndrome using SNP oligonucleotide microarray analysis. ( 20382060 )
2010
5
Glut-1 deficiency syndrome masquerading as idiopathic generalized epilepsy. ( 18479384 )
2008
6
[GLUT-1 deficiency syndrome or De Vivo disease: a case report]. ( 18556184 )
2008
7
Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects. ( 15622525 )
2005
8
Seizure characterization and electroencephalographic features in Glut-1 deficiency syndrome. ( 12752470 )
2003
9
Autosomal dominant Glut-1 deficiency syndrome and familial epilepsy. ( 11603379 )
2001
10
Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome. ( 10980529 )
2000
11
GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier. ( 9462754 )
1998

Variations for Glut1 Deficiency Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Glut1 Deficiency Syndrome 1:

76 (show all 25)
# Symbol AA change Variation ID SNP ID
1 SLC2A1 p.Gly91Asp VAR_013182 rs80359814
2 SLC2A1 p.Arg126His VAR_013183 rs80359816
3 SLC2A1 p.Arg126Leu VAR_013184 rs80359816
4 SLC2A1 p.Lys256Glu VAR_013185 rs121909738
5 SLC2A1 p.Ser66Phe VAR_013283 rs80359813
6 SLC2A1 p.Glu146Lys VAR_013284 rs80359820
7 SLC2A1 p.Thr310Ile VAR_013285 rs80359824
8 SLC2A1 p.Arg333Trp VAR_013286 rs80359825
9 SLC2A1 p.Asn34Ser VAR_054756
10 SLC2A1 p.Arg126Cys VAR_054757 rs80359818
11 SLC2A1 p.Gly130Ser VAR_054758 rs80359819
12 SLC2A1 p.Arg153Cys VAR_054759
13 SLC2A1 p.Thr295Met VAR_054763 rs80359823
14 SLC2A1 p.Asn34Tyr VAR_065206
15 SLC2A1 p.Met96Val VAR_065209 rs753161833
16 SLC2A1 p.Ala155Val VAR_065211
17 SLC2A1 p.Arg212Cys VAR_065213 rs387907312
18 SLC2A1 p.Arg212His VAR_065214 rs886039517
19 SLC2A1 p.Arg223Trp VAR_065216 rs796053248
20 SLC2A1 p.Glu329Gln VAR_065220
21 SLC2A1 p.Arg333Gln VAR_065221
22 SLC2A1 p.Gly382Asp VAR_065222
23 SLC2A1 p.Ala405Asp VAR_065223
24 SLC2A1 p.Pro485Leu VAR_065224
25 SLC2A1 p.Arg468Trp VAR_069080 rs267607059

ClinVar genetic disease variations for Glut1 Deficiency Syndrome 1:

6 (show top 50) (show all 70)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC2A1 NM_006516.2(SLC2A1): c.1089delG (p.Trp363Terfs) deletion Pathogenic rs587784391 GRCh37 Chromosome 1, 43393465: 43393465
2 SLC2A1 NM_006516.2(SLC2A1): c.1089delG (p.Trp363Terfs) deletion Pathogenic rs587784391 GRCh38 Chromosome 1, 42927794: 42927794
3 SLC2A1 NM_006516.2(SLC2A1): c.1007_1009delTGC (p.Leu336del) deletion Uncertain significance rs587784389 GRCh37 Chromosome 1, 43394668: 43394670
4 SLC2A1 NM_006516.2(SLC2A1): c.1007_1009delTGC (p.Leu336del) deletion Uncertain significance rs587784389 GRCh38 Chromosome 1, 42928997: 42928999
5 SLC2A1 NM_006516.3(SLC2A1): c.847C> T (p.Gln283Ter) single nucleotide variant Pathogenic rs587784397 GRCh37 Chromosome 1, 43395284: 43395284
6 SLC2A1 NM_006516.3(SLC2A1): c.847C> T (p.Gln283Ter) single nucleotide variant Pathogenic rs587784397 GRCh38 Chromosome 1, 42929613: 42929613
7 SLC2A1 NM_006516.3(SLC2A1): c.748C> T (p.Gln250Ter) single nucleotide variant Pathogenic rs587784396 GRCh37 Chromosome 1, 43395383: 43395383
8 SLC2A1 NM_006516.3(SLC2A1): c.748C> T (p.Gln250Ter) single nucleotide variant Pathogenic rs587784396 GRCh38 Chromosome 1, 42929712: 42929712
9 SLC2A1 NM_006516.3(SLC2A1): c.680-10G> T single nucleotide variant Conflicting interpretations of pathogenicity rs587784394 GRCh37 Chromosome 1, 43395461: 43395461
10 SLC2A1 NM_006516.3(SLC2A1): c.680-10G> T single nucleotide variant Conflicting interpretations of pathogenicity rs587784394 GRCh38 Chromosome 1, 42929790: 42929790
11 SLC2A1 NM_006516.3(SLC2A1): c.679+4C> A single nucleotide variant Conflicting interpretations of pathogenicity rs139492241 GRCh37 Chromosome 1, 43395540: 43395540
12 SLC2A1 NM_006516.3(SLC2A1): c.679+4C> A single nucleotide variant Conflicting interpretations of pathogenicity rs139492241 GRCh38 Chromosome 1, 42929869: 42929869
13 SLC2A1 NM_006516.3(SLC2A1): c.100A> G (p.Asn34Asp) single nucleotide variant Likely pathogenic rs587784390 GRCh37 Chromosome 1, 43408911: 43408911
14 SLC2A1 NM_006516.3(SLC2A1): c.100A> G (p.Asn34Asp) single nucleotide variant Likely pathogenic rs587784390 GRCh38 Chromosome 1, 42943240: 42943240
15 SLC2A1 NM_006516.2(SLC2A1): c.19_28delAAGCTGACGG (p.Lys7Valfs) deletion Pathogenic rs587784393 GRCh37 Chromosome 1, 43408983: 43408992
16 SLC2A1 NM_006516.2(SLC2A1): c.19_28delAAGCTGACGG (p.Lys7Valfs) deletion Pathogenic rs587784393 GRCh38 Chromosome 1, 42943312: 42943321
17 SLC2A1 NM_006516.3(SLC2A1): c.907dup (p.Val303Glyfs) duplication Pathogenic rs80359837 GRCh37 Chromosome 1, 43394946: 43394946
18 SLC2A1 NM_006516.3(SLC2A1): c.907dup (p.Val303Glyfs) duplication Pathogenic rs80359837 GRCh38 Chromosome 1, 42929275: 42929275
19 SLC2A1 NM_006516.3(SLC2A1): c.724C> T (p.Gln242Ter) single nucleotide variant Pathogenic rs794729221 GRCh37 Chromosome 1, 43395407: 43395407
20 SLC2A1 NM_006516.3(SLC2A1): c.724C> T (p.Gln242Ter) single nucleotide variant Pathogenic rs794729221 GRCh38 Chromosome 1, 42929736: 42929736
21 SLC2A1 NM_006516.3(SLC2A1): c.988C> T (p.Arg330Ter) single nucleotide variant Pathogenic rs80359826 GRCh37 Chromosome 1, 43394689: 43394689
22 SLC2A1 NM_006516.3(SLC2A1): c.988C> T (p.Arg330Ter) single nucleotide variant Pathogenic rs80359826 GRCh38 Chromosome 1, 42929018: 42929018
23 SLC2A1 NM_006516.3(SLC2A1): c.884C> T (p.Thr295Met) single nucleotide variant Pathogenic rs80359823 GRCh37 Chromosome 1, 43394969: 43394969
24 SLC2A1 NM_006516.3(SLC2A1): c.884C> T (p.Thr295Met) single nucleotide variant Pathogenic rs80359823 GRCh38 Chromosome 1, 42929298: 42929298
25 SLC2A1 NM_006516.3(SLC2A1): c.274C> A (p.Arg92=) single nucleotide variant Conflicting interpretations of pathogenicity rs202060209 GRCh37 Chromosome 1, 43396718: 43396718
26 SLC2A1 NM_006516.3(SLC2A1): c.274C> A (p.Arg92=) single nucleotide variant Conflicting interpretations of pathogenicity rs202060209 GRCh38 Chromosome 1, 42931047: 42931047
27 SLC2A1 NC_000001.11: g.(?_42925375)_(42959176_?)del deletion Pathogenic GRCh37 Chromosome 1, 43391046: 43424847
28 SLC2A1 NC_000001.11: g.(?_42925375)_(42959176_?)del deletion Pathogenic GRCh38 Chromosome 1, 42925375: 42959176
29 SLC2A1 NM_006516.3(SLC2A1): c.1366A> T (p.Lys456Ter) single nucleotide variant Pathogenic rs80359829 GRCh37 Chromosome 1, 43392825: 43392825
30 SLC2A1 NM_006516.3(SLC2A1): c.1366A> T (p.Lys456Ter) single nucleotide variant Pathogenic rs80359829 GRCh38 Chromosome 1, 42927154: 42927154
31 SLC2A1 NM_006516.3(SLC2A1): c.1347C> A (p.Tyr449Ter) single nucleotide variant Pathogenic rs80359828 GRCh37 Chromosome 1, 43392844: 43392844
32 SLC2A1 NM_006516.3(SLC2A1): c.1347C> A (p.Tyr449Ter) single nucleotide variant Pathogenic rs80359828 GRCh38 Chromosome 1, 42927173: 42927173
33 SLC2A1 NM_006516.3(SLC2A1): c.272G> A (p.Gly91Asp) single nucleotide variant Pathogenic rs80359814 GRCh37 Chromosome 1, 43396720: 43396720
34 SLC2A1 NM_006516.3(SLC2A1): c.272G> A (p.Gly91Asp) single nucleotide variant Pathogenic rs80359814 GRCh38 Chromosome 1, 42931049: 42931049
35 SLC2A1 NM_006516.3(SLC2A1): c.377G> A (p.Arg126His) single nucleotide variant Pathogenic rs80359816 GRCh37 Chromosome 1, 43396436: 43396436
36 SLC2A1 NM_006516.3(SLC2A1): c.377G> A (p.Arg126His) single nucleotide variant Pathogenic rs80359816 GRCh38 Chromosome 1, 42930765: 42930765
37 SLC2A1 NM_006516.3(SLC2A1): c.940G> A (p.Gly314Ser) single nucleotide variant Pathogenic rs121909739 GRCh37 Chromosome 1, 43394913: 43394913
38 SLC2A1 NM_006516.3(SLC2A1): c.940G> A (p.Gly314Ser) single nucleotide variant Pathogenic rs121909739 GRCh38 Chromosome 1, 42929242: 42929242
39 SLC2A1 NM_006516.3(SLC2A1): c.823G> A (p.Ala275Thr) single nucleotide variant Pathogenic rs121909740 GRCh37 Chromosome 1, 43395308: 43395308
40 SLC2A1 NM_006516.3(SLC2A1): c.823G> A (p.Ala275Thr) single nucleotide variant Pathogenic rs121909740 GRCh38 Chromosome 1, 42929637: 42929637
41 SLC2A1 NM_006516.3(SLC2A1): c.376C> T (p.Arg126Cys) single nucleotide variant Pathogenic rs80359818 GRCh37 Chromosome 1, 43396437: 43396437
42 SLC2A1 NM_006516.3(SLC2A1): c.376C> T (p.Arg126Cys) single nucleotide variant Pathogenic rs80359818 GRCh38 Chromosome 1, 42930766: 42930766
43 SLC2A1 NM_006516.3(SLC2A1): c.45C> T (p.Ala15=) single nucleotide variant Benign rs1385129 GRCh37 Chromosome 1, 43408966: 43408966
44 SLC2A1 NM_006516.3(SLC2A1): c.45C> T (p.Ala15=) single nucleotide variant Benign rs1385129 GRCh38 Chromosome 1, 42943295: 42943295
45 SLC2A1 NM_006516.3(SLC2A1): c.588G> A (p.Pro196=) single nucleotide variant Benign rs2229682 GRCh37 Chromosome 1, 43395635: 43395635
46 SLC2A1 NM_006516.3(SLC2A1): c.588G> A (p.Pro196=) single nucleotide variant Benign rs2229682 GRCh38 Chromosome 1, 42929964: 42929964
47 SLC2A1 NM_006516.3(SLC2A1): c.777C> T (p.Ile259=) single nucleotide variant Conflicting interpretations of pathogenicity rs78388808 GRCh37 Chromosome 1, 43395354: 43395354
48 SLC2A1 NM_006516.3(SLC2A1): c.777C> T (p.Ile259=) single nucleotide variant Conflicting interpretations of pathogenicity rs78388808 GRCh38 Chromosome 1, 42929683: 42929683
49 SLC2A1 NM_006516.2(SLC2A1): c.980_981delTG (p.Val327Glyfs) deletion Pathogenic rs80359838 GRCh37 Chromosome 1, 43394696: 43394697
50 SLC2A1 NM_006516.2(SLC2A1): c.980_981delTG (p.Val327Glyfs) deletion Pathogenic rs80359838 GRCh38 Chromosome 1, 42929025: 42929026

Copy number variations for Glut1 Deficiency Syndrome 1 from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 32796 1 39600000 43900000 Deletion facilitated GLUT1 deficiency syndrome
2 32797 1 39600000 43900000 Deletion gene GLUT1 deficiency syndrome
3 32798 1 39600000 43900000 Deletion glucose GLUT1 deficiency syndrome
4 32799 1 39600000 43900000 Deletion human GLUT1 deficiency syndrome
5 32800 1 39600000 43900000 Deletion transporter GLUT1 deficiency syndrome

Expression for Glut1 Deficiency Syndrome 1

Search GEO for disease gene expression data for Glut1 Deficiency Syndrome 1.

Pathways for Glut1 Deficiency Syndrome 1

GO Terms for Glut1 Deficiency Syndrome 1

Sources for Glut1 Deficiency Syndrome 1

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