GD2
MCID: GCH016
MIFTS: 54

Gaucher Disease, Type Ii (GD2)

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Eye diseases, Genetic diseases, Immune diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Gaucher Disease, Type Ii

MalaCards integrated aliases for Gaucher Disease, Type Ii:

Name: Gaucher Disease, Type Ii 57 13 55 38
Gaucher Disease, Acute Neuronopathic Type 57 12 53
Acute Neuronopathic Gaucher's Disease 29 6 40
Gaucher Disease Type 2 76 53 59
Gd Ii 57 12 75
Acute Neuronopathic Gaucher Disease 59 75
Infantile Cerebral Gaucher Disease 12 59
Gaucher's Disease Type Ii 12 15
Gaucher Disease, Infantile Cerebral 53
Gaucher Disease Type Ii 75
Gaucher Disease, Type 2 73
Type 2 Gaucher Disease 55
Gaucher Disease 2 75
Gd 2 53
Gd2 75

Characteristics:

Orphanet epidemiological data:

59
gaucher disease type 2
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe); Age of onset: Infancy; Age of death: early childhood,infantile;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset between 3 and 6 months of age
death often by age 2 years
see also perinatal lethal variant , which is more severe
see also gaucher disease type iii , which is much less severe


HPO:

32
gaucher disease, type ii:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Gaucher Disease, Type Ii

NIH Rare Diseases : 53 Gaucher disease type 2 is an inheritedmetabolic disorder in which harmful quantities of a fatty substance called glucocerebroside accumulate in the spleen, liver, lungs, bone marrow, and brain. Symptoms usually develop by 3 months of age and include brain damage, seizures, abnormal eye movements, poor ability to suck and swallow, and enlargement of the liver and spleen. Many children die by 2 to 4 years of age. Gaucher disease type 2 is caused by mutations in the GBA gene. It is inherited in an autosomal recessive pattern. While enzyme replacement therapy is available for some types of Gaucher disease, children with Gaucher disease type 2 generally don't respond to this treatment. Evaluation at a comprehensive center specializing in Gaucher disease and supportive care is appropriate for all affected children. 

MalaCards based summary : Gaucher Disease, Type Ii, also known as gaucher disease, acute neuronopathic type, is related to gaucher disease, type iii and gaucher disease, type i, and has symptoms including seizures, apnea and muscle rigidity. An important gene associated with Gaucher Disease, Type Ii is GBA (Glucosylceramidase Beta), and among its related pathways/superpathways are Akt Signaling and Cytokine Signaling in Immune system. Affiliated tissues include bone, lung and brain, and related phenotypes are spasticity and dysphagia

Disease Ontology : 12 A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has material basis in an autosomal recessive mutation of GBA on chromosome 1q22.

OMIM : 57 Type II Gaucher disease is an acute neuronopathic form of the disorder with onset in infancy and death often by 2 years of age. Patients are usually normal at birth, but develop hepatosplenomegaly, developmental regression, and growth arrest within a few months of age. Neurologic deterioration proceeds rapidly, with cranial nerve and extrapyramidal tract involvement (Stone et al., 2000). (230900)

UniProtKB/Swiss-Prot : 75 Gaucher disease 2: The most severe form of Gaucher disease. It manifests soon after birth, with death generally occurring before patients reach two years of age.

Wikipedia : 76 Gaucher''s disease or Gaucher disease (/ɡo�?�?�?eɪ/) (GD) is a genetic disorder in which... more...

Related Diseases for Gaucher Disease, Type Ii

Diseases in the Gaucher's Disease family:

Gaucher Disease, Type I Gaucher Disease, Type Ii
Gaucher Disease, Type Iii Gaucher Disease, Type Iiic
Pseudo-Gaucher Disease

Diseases related to Gaucher Disease, Type Ii via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 188)
# Related Disease Score Top Affiliating Genes
1 gaucher disease, type iii 32.7 GBA IL5 PSAP
2 gaucher disease, type i 32.0 GBA PSAP
3 gaucher's disease 30.1 GBA PSAP
4 genital herpes 29.8 IL10 IL4
5 multiple sclerosis 29.2 IL10 IL2 IL4 IL5
6 gaucher disease, perinatal lethal 11.1
7 sphingolipidosis 10.1 GBA PSAP
8 niemann-pick disease 10.1 GBA PSAP
9 carney complex, type 1 10.1
10 retinoblastoma 10.1
11 caronte 10.1
12 wells syndrome 10.1 IL2 IL5
13 lipid storage disease 10.1 GBA PSAP
14 virus associated hemophagocytic syndrome 10.1 IL2 IL4
15 stevens-johnson syndrome/toxic epidermal necrolysis 10.1 IL2 IL5
16 cough variant asthma 10.1 IL4 IL5
17 autoimmune vasculitis 10.1 IL2 IL4
18 scleritis 10.1 IL4 IL5
19 egg allergy 10.1 IL4 IL5
20 sulfamethoxazole allergy 10.1 IL4 IL5
21 jak3-deficient severe combined immunodeficiency 10.1 IL2 IL4
22 intrinsic asthma 10.1 IL4 IL5
23 trichinosis 10.1 IL4 IL5
24 inflammatory bowel disease 4 10.1 IL4 IL5
25 non-suppurative otitis media 10.1 IL4 IL5
26 latex allergy 10.0 IL4 IL5
27 intestinal schistosomiasis 10.0 IL4 IL5
28 chronic tic disorder 10.0 IL4 IL5
29 chronic conjunctivitis 10.0 IL4 IL5
30 eosinophilic gastritis 10.0 IL4 IL5
31 kimura disease 10.0 IL4 IL5
32 vernal keratoconjunctivitis 10.0 IL4 IL5
33 toxic oil syndrome 10.0 IL4 IL5
34 urinary schistosomiasis 10.0 IL4 IL5
35 vulvovaginal candidiasis 10.0 IL2 IL4
36 folliculitis 10.0 IL4 IL5
37 enterobiasis 10.0 IL4 IL5
38 conjunctival disease 10.0 IL4 IL5
39 severe combined immunodeficiency, x-linked 10.0 IL2 IL4
40 allergic bronchopulmonary aspergillosis 10.0 IL4 IL5
41 vernal conjunctivitis 10.0 IL2 IL4
42 pulmonary eosinophilia 10.0 IL4 IL5
43 allergic conjunctivitis 10.0 IL4 IL5
44 hand, foot and mouth disease 10.0 GBA IL10
45 yellow fever 10.0 IL4 IL5
46 cephalosporin allergy 10.0 IL10 IL5
47 tonsillitis 10.0 IL2 IL4
48 necatoriasis 10.0 IL10 IL5
49 cow milk allergy 10.0 IL10 IL5
50 clonorchiasis 10.0 IL10 IL2

Graphical network of the top 20 diseases related to Gaucher Disease, Type Ii:



Diseases related to Gaucher Disease, Type Ii

Symptoms & Phenotypes for Gaucher Disease, Type Ii

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
spasticity
hyperreflexia
bulbar signs
rigidity
more
Abdomen Gastrointestinal:
dysphagia
poor feeding
uncoordinated swallowing

Abdomen Liver:
hepatomegaly

Head And Neck Eyes:
strabismus
oculomotor apraxia
convergent squint
ocular paresis

Head And Neck Mouth:
trismus

Growth Weight:
poor weight gain

Abdomen External Features:
protruberant abdomen

Growth Other:
failure to thrive

Abdomen Spleen:
splenomegaly

Hematology:
anemia
thrombocytopenia

Respiratory:
apnea

Respiratory Lung:
recurrent aspiration pneumonia

Respiratory Larynx:
laryngeal spasms

Laboratory Abnormalities:
decreased acid beta galactosidase protein and activity


Clinical features from OMIM:

230900

Human phenotypes related to Gaucher Disease, Type Ii:

59 32 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spasticity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001257
2 dysphagia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002015
3 splenomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001744
4 recurrent respiratory infections 59 32 frequent (33%) Frequent (79-30%) HP:0002205
5 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
6 flexion contracture 59 32 frequent (33%) Frequent (79-30%) HP:0001371
7 generalized myoclonic seizures 59 32 frequent (33%) Frequent (79-30%) HP:0002123
8 strabismus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000486
9 respiratory distress 59 32 frequent (33%) Frequent (79-30%) HP:0002098
10 dystonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001332
11 cough 59 32 frequent (33%) Frequent (79-30%) HP:0012735
12 ophthalmoplegia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000602
13 encephalopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001298
14 cardiac arrest 59 32 occasional (7.5%) Occasional (29-5%) HP:0001695
15 abnormal pattern of respiration 59 32 hallmark (90%) Very frequent (99-80%) HP:0002793
16 seizures 32 HP:0001250
17 hyperreflexia 32 HP:0001347
18 failure to thrive 32 HP:0001508
19 global developmental delay 32 HP:0001263
20 anemia 32 HP:0001903
21 feeding difficulties 32 HP:0011968
22 thrombocytopenia 32 HP:0001873
23 apnea 32 HP:0002104
24 bulbar signs 32 HP:0002483
25 rigidity 32 HP:0002063
26 trismus 32 HP:0000211
27 oculomotor apraxia 32 HP:0000657
28 cerebral atrophy 32 HP:0002059
29 esotropia 32 HP:0000565
30 protuberant abdomen 32 HP:0001538
31 progressive neurologic deterioration 32 HP:0002344
32 recurrent aspiration pneumonia 32 HP:0002100

UMLS symptoms related to Gaucher Disease, Type Ii:


seizures, apnea, muscle rigidity, muscle spasticity

MGI Mouse Phenotypes related to Gaucher Disease, Type Ii:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.88 GBA IL10 IL2 IL4 IL5 PSAP
2 digestive/alimentary MP:0005381 9.85 IL10 IL2 IL4 IL5 PSAP
3 hematopoietic system MP:0005397 9.85 GBA IL10 IL2 IL4 IL5 PSAP
4 endocrine/exocrine gland MP:0005379 9.83 GBA IL10 IL2 IL4 PSAP
5 homeostasis/metabolism MP:0005376 9.8 GBA IL10 IL2 IL4 IL5 PSAP
6 immune system MP:0005387 9.73 GBA IL10 IL2 IL4 IL5 PSAP
7 liver/biliary system MP:0005370 9.63 GBA IL10 IL2 IL4 IL5 PSAP
8 reproductive system MP:0005389 9.35 IL10 IL2 IL4 IL5 PSAP
9 respiratory system MP:0005388 9.1 GBA IL10 IL2 IL4 IL5 PSAP

Drugs & Therapeutics for Gaucher Disease, Type Ii

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Multicenter Extension Study of Velaglucerase Alfa in Japanese Patients With Gaucher Disease Completed NCT01842841 Phase 3 velaglucerase alfa
2 Study of Velaglucerase Alfa Enzyme Replacement Therapy in Japanese Patients With Gaucher Disease Completed NCT01614574 Phase 3
3 Efficacy and Safety Study of Velaglucerase Alfa in Children and Adolescents With Type 3 Gaucher Disease Completed NCT01685216 Phase 1, Phase 2
4 Gene Therapy for Gaucher's and Fabry Disease Using Viruses and Blood-Forming Cells Completed NCT00001234 Phase 1
5 PEG-Glucocerebrosidase for the Treatment of Gaucher Disease Completed NCT00001410 Phase 1 Lysodase
6 Convection-Enhanced Delivery of Glucocerebrosidase to Treat Type 2 Gaucher Disease Completed NCT00244582
7 Effects of Enzyme Replacement in Gaucher's Disease Completed NCT00001289
8 Gaucherite - A Study to Stratify Gaucher Disease Recruiting NCT03240653
9 Nervous System Degeneration in Glycosphingolipid Storage Disorders Recruiting NCT00029965

Search NIH Clinical Center for Gaucher Disease, Type Ii

Genetic Tests for Gaucher Disease, Type Ii

Genetic tests related to Gaucher Disease, Type Ii:

# Genetic test Affiliating Genes
1 Acute Neuronopathic Gaucher's Disease 29 GBA

Anatomical Context for Gaucher Disease, Type Ii

MalaCards organs/tissues related to Gaucher Disease, Type Ii:

41
Bone, Lung, Brain, Liver, Spleen, Bone Marrow, Eye

Publications for Gaucher Disease, Type Ii

Articles related to Gaucher Disease, Type Ii:

# Title Authors Year
1
Four Gaucher disease type II patients with three novel mutations: a single centre experience from Turkey. ( 29656334 )
2018
2
The cytokine and chemokine profiles in rhabdomyolysis in a patient with Gaucher disease type II. ( 20571990 )
2010

Variations for Gaucher Disease, Type Ii

UniProtKB/Swiss-Prot genetic disease variations for Gaucher Disease, Type Ii:

75
# Symbol AA change Variation ID SNP ID
1 GBA p.Leu483Pro VAR_003321 rs421016
2 GBA p.Glu80Lys VAR_009033
3 GBA p.Arg170Cys VAR_009035 rs398123530
4 GBA p.Asp513Tyr VAR_009050

ClinVar genetic disease variations for Gaucher Disease, Type Ii:

6 (show all 28)
# Gene Variation Type Significance SNP ID Assembly Location
1 GBA NM_000157.3(GBA): c.1448T> C (p.Leu483Pro) single nucleotide variant risk factor rs421016 GRCh37 Chromosome 1, 155205043: 155205043
2 GBA NM_000157.3(GBA): c.1448T> C (p.Leu483Pro) single nucleotide variant risk factor rs421016 GRCh38 Chromosome 1, 155235252: 155235252
3 GBA NM_001005741.2(GBA): c.1361C> G (p.Pro454Arg) single nucleotide variant Pathogenic rs121908295 GRCh37 Chromosome 1, 155205499: 155205499
4 GBA NM_001005741.2(GBA): c.1361C> G (p.Pro454Arg) single nucleotide variant Pathogenic rs121908295 GRCh38 Chromosome 1, 155235708: 155235708
5 GBA NM_001005741.2(GBA): c.1226A> G (p.Asn409Ser) single nucleotide variant risk factor rs76763715 GRCh37 Chromosome 1, 155205634: 155205634
6 GBA NM_001005741.2(GBA): c.1226A> G (p.Asn409Ser) single nucleotide variant risk factor rs76763715 GRCh38 Chromosome 1, 155235843: 155235843
7 GBA NM_000157.3(GBA): c.1342G> C (p.Asp448His) single nucleotide variant Pathogenic/Likely pathogenic rs1064651 GRCh37 Chromosome 1, 155205518: 155205518
8 GBA NM_000157.3(GBA): c.1342G> C (p.Asp448His) single nucleotide variant Pathogenic/Likely pathogenic rs1064651 GRCh38 Chromosome 1, 155235727: 155235727
9 GBA NM_000157.3(GBA): c.1504C> T (p.Arg502Cys) single nucleotide variant Pathogenic rs80356771 GRCh37 Chromosome 1, 155204987: 155204987
10 GBA NM_000157.3(GBA): c.1504C> T (p.Arg502Cys) single nucleotide variant Pathogenic rs80356771 GRCh38 Chromosome 1, 155235196: 155235196
11 GBA NM_000157.3(GBA): c.754T> A (p.Phe252Ile) single nucleotide variant Pathogenic rs381737 GRCh37 Chromosome 1, 155207932: 155207932
12 GBA NM_000157.3(GBA): c.754T> A (p.Phe252Ile) single nucleotide variant Pathogenic rs381737 GRCh38 Chromosome 1, 155238141: 155238141
13 GBA NM_001005741.2(GBA): c.1085C> T (p.Thr362Ile) single nucleotide variant Pathogenic rs76539814 GRCh37 Chromosome 1, 155206175: 155206175
14 GBA NM_001005741.2(GBA): c.1085C> T (p.Thr362Ile) single nucleotide variant Pathogenic rs76539814 GRCh38 Chromosome 1, 155236384: 155236384
15 GBA NM_001005741.2(GBA): c.1090G> A (p.Gly364Arg) single nucleotide variant Likely pathogenic rs121908305 GRCh37 Chromosome 1, 155206170: 155206170
16 GBA NM_001005741.2(GBA): c.1090G> A (p.Gly364Arg) single nucleotide variant Likely pathogenic rs121908305 GRCh38 Chromosome 1, 155236379: 155236379
17 GBA NM_001005741.2(GBA): c.1141T> G (p.Cys381Gly) single nucleotide variant Pathogenic rs121908306 GRCh37 Chromosome 1, 155206119: 155206119
18 GBA NM_001005741.2(GBA): c.1141T> G (p.Cys381Gly) single nucleotide variant Pathogenic rs121908306 GRCh38 Chromosome 1, 155236328: 155236328
19 GBA NM_001005741.2(GBA): c.882T> G (p.His294Gln) single nucleotide variant Uncertain significance rs367968666 GRCh37 Chromosome 1, 155207249: 155207249
20 GBA NM_001005741.2(GBA): c.882T> G (p.His294Gln) single nucleotide variant Uncertain significance rs367968666 GRCh38 Chromosome 1, 155237458: 155237458
21 GBA NM_001005741.2(GBA): c.1483G> C (p.Ala495Pro) single nucleotide variant Benign rs368060 GRCh37 Chromosome 1, 155205008: 155205008
22 GBA NM_001005741.2(GBA): c.1483G> C (p.Ala495Pro) single nucleotide variant Benign rs368060 GRCh38 Chromosome 1, 155235217: 155235217
23 GBA NM_001005741.2(GBA): c.1497G> C (p.Val499=) single nucleotide variant Benign/Likely benign rs1135675 GRCh37 Chromosome 1, 155204994: 155204994
24 GBA NM_001005741.2(GBA): c.1497G> C (p.Val499=) single nucleotide variant Benign/Likely benign rs1135675 GRCh38 Chromosome 1, 155235203: 155235203
25 GBA NM_001005741.2(GBA): c.115+1G> A single nucleotide variant Pathogenic rs104886460 GRCh37 Chromosome 1, 155210420: 155210420
26 GBA NM_001005741.2(GBA): c.115+1G> A single nucleotide variant Pathogenic rs104886460 GRCh38 Chromosome 1, 155240629: 155240629
27 GBA NM_001005741.2(GBA): c.1448T> G (p.Leu483Arg) single nucleotide variant Pathogenic/Likely pathogenic rs421016 GRCh37 Chromosome 1, 155205043: 155205043
28 GBA NM_001005741.2(GBA): c.1448T> G (p.Leu483Arg) single nucleotide variant Pathogenic/Likely pathogenic rs421016 GRCh38 Chromosome 1, 155235252: 155235252

Expression for Gaucher Disease, Type Ii

Search GEO for disease gene expression data for Gaucher Disease, Type Ii.

Pathways for Gaucher Disease, Type Ii

Pathways related to Gaucher Disease, Type Ii according to GeneCards Suite gene sharing:

(show all 29)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.08 IL10 IL2 IL4 IL5
2
Show member pathways
13.03 IL10 IL2 IL4 IL5
3
Show member pathways
12.97 IL10 IL2 IL4 IL5
4
Show member pathways
12.62 IL10 IL2 IL4 IL5
5
Show member pathways
12.36 IL10 IL2 IL4 IL5
6
Show member pathways
12.34 IL10 IL2 IL4
7 12.28 IL10 IL2 IL4
8
Show member pathways
12.14 IL10 IL2 IL4 IL5
9
Show member pathways
12.12 IL10 IL2 IL4 IL5
10
Show member pathways
12.02 IL10 IL2 IL4 IL5
11
Show member pathways
11.86 IL10 IL2 IL4 IL5
12 11.69 IL10 IL2 IL4 IL5
13 11.65 IL2 IL4 IL5
14
Show member pathways
11.59 IL2 IL4 IL5
15 11.53 IL10 IL5
16 11.52 IL10 IL2 IL4
17 11.51 IL10 IL2
18 11.46 IL10 IL2 IL4 IL5
19
Show member pathways
11.45 IL2 IL4
20 11.45 IL10 IL4 IL5
21 11.42 IL4 IL5
22 11.29 IL10 IL4
23 11.12 IL10 IL2 IL4 IL5
24 11.1 IL2 IL4 IL5
25 11.09 IL4 IL5
26 10.9 IL10 IL2 IL4 IL5
27 10.77 IL10 IL2 IL4 IL5
28 10.72 IL10 IL2 IL4 IL5
29 10.34 IL10 IL2 IL4 IL5

GO Terms for Gaucher Disease, Type Ii

Cellular components related to Gaucher Disease, Type Ii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.35 IL10 IL2 IL4 IL5 PSAP
2 extracellular space GO:0005615 9.1 GBA IL10 IL2 IL4 IL5 PSAP

Biological processes related to Gaucher Disease, Type Ii according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.73 IL10 IL2 IL4 IL5
2 regulation of signaling receptor activity GO:0010469 9.71 IL10 IL2 IL4 IL5
3 B cell differentiation GO:0030183 9.57 IL10 IL4
4 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.56 IL2 IL4
5 positive regulation of T cell proliferation GO:0042102 9.55 IL2 IL4
6 sphingolipid metabolic process GO:0006665 9.54 GBA PSAP
7 negative regulation of inflammatory response GO:0050728 9.54 GBA IL10 IL2
8 negative regulation of endothelial cell apoptotic process GO:2000352 9.52 IL10 IL4
9 negative regulation of interleukin-6 production GO:0032715 9.51 GBA IL10
10 positive regulation of T cell differentiation GO:0045582 9.49 IL2 IL4
11 positive regulation of immunoglobulin secretion GO:0051024 9.48 IL2 IL5
12 positive regulation of isotype switching to IgG isotypes GO:0048304 9.46 IL2 IL4
13 positive regulation of MHC class II biosynthetic process GO:0045348 9.32 IL10 IL4
14 regulation of isotype switching GO:0045191 9.26 IL10 IL4
15 cytokine-mediated signaling pathway GO:0019221 9.26 IL10 IL2 IL4 IL5
16 type 2 immune response GO:0042092 9.16 IL10 IL4
17 positive regulation of B cell proliferation GO:0030890 8.8 IL2 IL4 IL5

Molecular functions related to Gaucher Disease, Type Ii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.26 IL10 IL2 IL4 IL5
2 growth factor activity GO:0008083 8.92 IL10 IL2 IL4 IL5

Sources for Gaucher Disease, Type Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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