ALPS2A
MCID: ATM097
MIFTS: 44

Autoimmune Lymphoproliferative Syndrome, Type Iia (ALPS2A)

Categories: Blood diseases, Cancer diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Autoimmune Lymphoproliferative Syndrome, Type Iia

MalaCards integrated aliases for Autoimmune Lymphoproliferative Syndrome, Type Iia:

Name: Autoimmune Lymphoproliferative Syndrome, Type Iia 57 70
Autoimmune Lymphoproliferative Syndrome, Type Ii 57 72 13 54
Alps2a 57 12 72
Autoimmune Lymphoproliferative Syndrome Type Iia 12 72
Autoimmune Lymphoproliferative Syndrome, Type 2a 29 6
Autoimmune Lymphoproliferative Syndrome Type 2a 12 15
Alps2 57 72
Autoimmune Lymphoproliferative Syndrome, Type Ii; Alps2 57
Autoimmune Lymphoproliferative Syndrome, Type 2 39
Autoimmune Lymphoproliferative Syndrome 2a 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy or childhood


HPO:

31
autoimmune lymphoproliferative syndrome, type iia:
Inheritance autosomal dominant inheritance
Onset and clinical course juvenile onset


Classifications:



Summaries for Autoimmune Lymphoproliferative Syndrome, Type Iia

UniProtKB/Swiss-Prot : 72 Autoimmune lymphoproliferative syndrome 2A: A disorder of apoptosis that manifests in early childhood and results in the accumulation of autoreactive lymphocytes. It is characterized by non-malignant lymphadenopathy with hepatosplenomegaly, and autoimmune hemolytic anemia, thrombocytopenia and neutropenia.

MalaCards based summary : Autoimmune Lymphoproliferative Syndrome, Type Iia, also known as autoimmune lymphoproliferative syndrome, type ii, is related to exanthem and autoimmune lymphoproliferative syndrome. An important gene associated with Autoimmune Lymphoproliferative Syndrome, Type Iia is CASP10 (Caspase 10), and among its related pathways/superpathways are Cell adhesion molecules and Yersinia infection. Affiliated tissues include t cells, smooth muscle and b cells, and related phenotypes are splenomegaly and hepatomegaly

Disease Ontology : 12 An autoimmune lymphoproliferative syndrome that has material basis in mutation in the CASP10 gene.

More information from OMIM: 603909

Related Diseases for Autoimmune Lymphoproliferative Syndrome, Type Iia

Diseases in the Lymphoproliferative Syndrome family:

Autoimmune Lymphoproliferative Syndrome Autoimmune Lymphoproliferative Syndrome, Type Iia
Lymphoproliferative Syndrome 1 Lymphoproliferative Syndrome 2
Autoimmune Lymphoproliferative Syndrome, Type Iii Autoimmune Lymphoproliferative Syndrome, Type V
Lymphoproliferative Syndrome 3

Diseases related to Autoimmune Lymphoproliferative Syndrome, Type Iia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 246)
# Related Disease Score Top Affiliating Genes
1 exanthem 30.1 CD8A CD4
2 autoimmune lymphoproliferative syndrome 29.6 CD8A CD4 CASP10
3 lymphoproliferative syndrome 10.1
4 pericarditis 10.1
5 juvenile rheumatoid arthritis 10.1
6 splenomegaly 10.1
7 periodic fever, familial, autosomal dominant 10.1
8 cork-handlers' disease 10.0 CD8A CD4
9 necrotic uveal melanoma 10.0 CD8A CD4
10 early yaws 10.0 CD8A CD4
11 ventilation pneumonitis 10.0 CD8A CD4
12 diffuse infiltrative lymphocytosis syndrome 10.0 CD8A CD4
13 latent syphilis 10.0 CD8A CD4
14 syphilis 10.0 CD8A CD4
15 type 1 diabetes mellitus 23 10.0 CD8A CD4
16 parapsoriasis 10.0 CD8A CD4
17 gastroduodenitis 10.0 CD8A CD4
18 duodenitis 10.0 CD8A CD4
19 primary syphilis 10.0 CD8A CD4
20 norwegian scabies 10.0 CD8A CD4
21 bird fancier's lung 10.0 CD8A CD4
22 skin sarcoidosis 10.0 CD8A CD4
23 metal allergy 10.0 CD8A CD4
24 variola major 10.0 CD8A CD4
25 follicular mucinosis 10.0 CD8A CD4
26 tertiary syphilis 10.0 CD8A CD4
27 spongiotic dermatitis 10.0 CD8A CD4
28 acute retinal necrosis syndrome 10.0 CD8A CD4
29 cerebral lymphoma 10.0 CD8A CD4
30 oral tuberculosis 10.0 CD8A CD4
31 cerebritis 10.0 CD8A CD4
32 invasive malignant thymoma 10.0 CD8A CD4
33 west nile encephalitis 10.0 CD8A CD4
34 granulomatous hepatitis 10.0 CD8A CD4
35 exanthema subitum 10.0 CD8A CD4
36 immunodeficiency 36 10.0 CD8A CD4
37 viral exanthem 10.0 CD8A CD4
38 secondary syphilis 10.0 CD8A CD4
39 glanders 10.0 CD8A CD4
40 oral hairy leukoplakia 10.0 CD8A CD4
41 superficial basal cell carcinoma 10.0 CD8A CD4
42 esophageal candidiasis 10.0 CD8A CD4
43 parotid disease 10.0 CD8A CD4
44 myeloid and lymphoid neoplasms associated with fgfr1 abnormalities 10.0 CD8A CD4
45 ulcerative stomatitis 10.0 CD8A CD4
46 granulomatous dermatitis 9.9 CD8A CD4
47 west nile fever 9.9 CD8A CD4
48 neurosarcoidosis 9.9 CD8A CD4
49 retinitis pigmentosa 46 9.9 CD8A CD4
50 pneumonic tularemia 9.9 CD8A CD4

Graphical network of the top 20 diseases related to Autoimmune Lymphoproliferative Syndrome, Type Iia:



Diseases related to Autoimmune Lymphoproliferative Syndrome, Type Iia

Symptoms & Phenotypes for Autoimmune Lymphoproliferative Syndrome, Type Iia

Human phenotypes related to Autoimmune Lymphoproliferative Syndrome, Type Iia:

31 (show all 34)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 very rare (1%) HP:0001744
2 hepatomegaly 31 very rare (1%) HP:0002240
3 lymphadenopathy 31 very rare (1%) HP:0002716
4 elevated erythrocyte sedimentation rate 31 very rare (1%) HP:0003565
5 autoimmune hemolytic anemia 31 very rare (1%) HP:0001890
6 rheumatoid factor positive 31 very rare (1%) HP:0002923
7 elevated proportion of cd4-negative, cd8-negative, alpha-beta regulatory t cells 31 very rare (1%) HP:0002851
8 thrombocytopenia 31 HP:0001873
9 nephrotic syndrome 31 HP:0000100
10 gastrointestinal hemorrhage 31 HP:0002239
11 petechiae 31 HP:0000967
12 urticaria 31 HP:0001025
13 vasculitis 31 HP:0002633
14 eosinophilia 31 HP:0001880
15 follicular hyperplasia 31 HP:0002729
16 increased circulating iga level 31 HP:0003261
17 antiphospholipid antibody positivity 31 HP:0003613
18 autoimmune thrombocytopenia 31 HP:0001973
19 increased circulating igm level 31 HP:0003496
20 antinuclear antibody positivity 31 HP:0003493
21 iron deficiency anemia 31 HP:0001891
22 coombs-positive hemolytic anemia 31 HP:0004844
23 neutropenia in presence of anti-neutropil antibodies 31 HP:0001904
24 increased circulating igg level 31 HP:0003237
25 nephritis 31 HP:0000123
26 chronic noninfectious lymphadenopathy 31 HP:0002730
27 malar rash 31 HP:0025300
28 smooth muscle antibody positivity 31 HP:0003262
29 antineutrophil antibody positivity 31 HP:0003453
30 increased b cell count 31 HP:0005404
31 platelet antibody positive 31 HP:0003454
32 reduced delayed hypersensitivity 31 HP:0002972
33 decreased lymphocyte apoptosis 31 HP:0002731
34 increased proportion of hla dr+ t cells 31 HP:0002853

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen Spleen:
splenomegaly

Genitourinary Kidneys:
nephrotic syndrome
nephritis
membranous glomerulonephropathy

Hematology:
eosinophilia
autoimmune hemolytic anemia
autoimmune thrombocytopenia
iron deficiency anemia
autoimmune neutropenia

Immunology:
chronic noninfectious lymphadenopathy
reduced delayed hypersensitivity
defective lymphocyte apoptosis
increased number of peripheral cd3+ t cells
increased number of cd4-/cd8- t cells expressing alpha/beta t-cell receptors
more
Abdomen Liver:
hepatomegaly

Skin Nails Hair Skin:
urticaria
malar rash
vasculitis rash

Laboratory Abnormalities:
rheumatoid factor positive
platelet antibody positive
increased levels of igg
increased levels of iga
increased levels of igm
more

Clinical features from OMIM®:

603909 (Updated 05-Apr-2021)

Drugs & Therapeutics for Autoimmune Lymphoproliferative Syndrome, Type Iia

Search Clinical Trials , NIH Clinical Center for Autoimmune Lymphoproliferative Syndrome, Type Iia

Genetic Tests for Autoimmune Lymphoproliferative Syndrome, Type Iia

Genetic tests related to Autoimmune Lymphoproliferative Syndrome, Type Iia:

# Genetic test Affiliating Genes
1 Autoimmune Lymphoproliferative Syndrome, Type 2a 29 CASP10

Anatomical Context for Autoimmune Lymphoproliferative Syndrome, Type Iia

MalaCards organs/tissues related to Autoimmune Lymphoproliferative Syndrome, Type Iia:

40
T Cells, Smooth Muscle, B Cells, Neutrophil

Publications for Autoimmune Lymphoproliferative Syndrome, Type Iia

Articles related to Autoimmune Lymphoproliferative Syndrome, Type Iia:

# Title Authors PMID Year
1
Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II. 61 54 6 57
10412980 1999
2
Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome. 57
16446975 2006
3
Clincal, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis. 57
9028957 1997
4
Mutations in apoptosis genes: a pathogenetic factor for human disease. 54 61
11397650 2001
5
Exonic deletion of CASP10 in a patient presenting with systemic juvenile idiopathic arthritis, but not with autoimmune lymphoproliferative syndrome type IIa. 61
21382177 2011
6
Revision of the diagnosis of T-zone lymphoma in the father of a patient with autoimmune lymphoproliferative syndrome type II. 61
10520011 1999
7
Reversible monoclonal lymphadenopathy in autoimmune lymphoproliferative syndrome with functional FAS (CD95/APO-1) deficiency. 61
10403307 1999

Variations for Autoimmune Lymphoproliferative Syndrome, Type Iia

ClinVar genetic disease variations for Autoimmune Lymphoproliferative Syndrome, Type Iia:

6 (show top 50) (show all 221)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CASP10 NM_032977.3(CASP10):c.853C>T (p.Leu285Phe) SNV Pathogenic 7764 rs17860403 GRCh37: 2:202072837-202072837
GRCh38: 2:201208114-201208114
2 CASP10 NM_032977.4(CASP10):c.477del (p.Gly160fs) Deletion Pathogenic 953582 GRCh37: 2:202057741-202057741
GRCh38: 2:201193018-201193018
3 CASP10 NM_032976.3(CASP10):c.*288_*294del Deletion Pathogenic 535760 rs747900630 GRCh37: 2:202074072-202074078
GRCh38: 2:201209349-201209355
4 CASP10 NM_032977.3(CASP10):c.1216A>C (p.Ile406Leu) SNV Conflicting interpretations of pathogenicity 7769 rs80358239 GRCh37: 2:202074086-202074086
GRCh38: 2:201209363-201209363
5 CASP10 NM_032977.3(CASP10):c.478G>A (p.Gly160Ser) SNV Uncertain significance 467715 rs781000749 GRCh37: 2:202057743-202057743
GRCh38: 2:201193020-201193020
6 CASP10 NM_032977.3(CASP10):c.1197G>T (p.Gln399His) SNV Uncertain significance 582472 rs199626441 GRCh37: 2:202074067-202074067
GRCh38: 2:201209344-201209344
7 CASP10 NC_000002.12:g.(?_201192964)_(201193139_?)dup Duplication Uncertain significance 833232 GRCh37: 2:202057687-202057862
GRCh38:
8 CASP10 NC_000002.12:g.(?_201185758)_(201229103_?)dup Duplication Uncertain significance 833235 GRCh37: 2:202050481-202093826
GRCh38:
9 CASP10 NM_032977.4(CASP10):c.142C>T (p.Pro48Ser) SNV Uncertain significance 839357 GRCh37: 2:202050642-202050642
GRCh38: 2:201185919-201185919
10 CASP10 NM_032977.4(CASP10):c.553A>G (p.Ile185Val) SNV Uncertain significance 857497 GRCh37: 2:202057818-202057818
GRCh38: 2:201193095-201193095
11 CASP10 NM_032977.4(CASP10):c.1288A>T (p.Ile430Phe) SNV Uncertain significance 860550 GRCh37: 2:202074158-202074158
GRCh38: 2:201209435-201209435
12 CASP10 NM_032977.3(CASP10):c.*3478T>G SNV Uncertain significance 333494 rs886055431 GRCh37: 2:202085942-202085942
GRCh38: 2:201221219-201221219
13 CASP10 NM_032977.3(CASP10):c.*333C>T SNV Uncertain significance 333448 rs886055407 GRCh37: 2:202082797-202082797
GRCh38: 2:201218074-201218074
14 CASP10 NM_032977.3(CASP10):c.*3365A>G SNV Uncertain significance 333491 rs886055429 GRCh37: 2:202085829-202085829
GRCh38: 2:201221106-201221106
15 CASP10 NM_032977.3(CASP10):c.*1909A>G SNV Uncertain significance 333468 rs886055417 GRCh37: 2:202084373-202084373
GRCh38: 2:201219650-201219650
16 CASP10 NM_032977.3(CASP10):c.*2590G>C SNV Uncertain significance 333477 rs74267227 GRCh37: 2:202085054-202085054
GRCh38: 2:201220331-201220331
17 CASP10 NM_032977.3(CASP10):c.*1038C>T SNV Uncertain significance 333457 rs886055412 GRCh37: 2:202083502-202083502
GRCh38: 2:201218779-201218779
18 CASP10 NM_032977.3(CASP10):c.*1257G>A SNV Uncertain significance 333460 rs886055414 GRCh37: 2:202083721-202083721
GRCh38: 2:201218998-201218998
19 CASP10 NM_032977.3(CASP10):c.*2844C>T SNV Uncertain significance 333483 rs886055424 GRCh37: 2:202085308-202085308
GRCh38: 2:201220585-201220585
20 CASP10 NM_032977.3(CASP10):c.*2979C>T SNV Uncertain significance 333486 rs886055427 GRCh37: 2:202085443-202085443
GRCh38: 2:201220720-201220720
21 CASP10 NM_032977.3(CASP10):c.*732T>A SNV Uncertain significance 333452 rs886055409 GRCh37: 2:202083196-202083196
GRCh38: 2:201218473-201218473
22 CASP10 NM_032977.3(CASP10):c.*3420C>T SNV Uncertain significance 333492 rs536711035 GRCh37: 2:202085884-202085884
GRCh38: 2:201221161-201221161
23 CASP10 NM_032977.3(CASP10):c.*480A>G SNV Uncertain significance 333449 rs539196058 GRCh37: 2:202082944-202082944
GRCh38: 2:201218221-201218221
24 CASP10 NM_032977.3(CASP10):c.*2425C>G SNV Uncertain significance 333475 rs886055421 GRCh37: 2:202084889-202084889
GRCh38: 2:201220166-201220166
25 CASP10 NM_032977.3(CASP10):c.1316G>T (p.Gly439Val) SNV Uncertain significance 333436 rs764646945 GRCh37: 2:202074186-202074186
GRCh38: 2:201209463-201209463
26 CASP10 NM_032977.3(CASP10):c.534A>G (p.Val178=) SNV Uncertain significance 333424 rs146233833 GRCh37: 2:202057799-202057799
GRCh38: 2:201193076-201193076
27 CASP10 NM_032977.3(CASP10):c.*1366T>C SNV Uncertain significance 333461 rs886055415 GRCh37: 2:202083830-202083830
GRCh38: 2:201219107-201219107
28 CASP10 NM_032977.3(CASP10):c.*2600G>T SNV Uncertain significance 333478 rs886055423 GRCh37: 2:202085064-202085064
GRCh38: 2:201220341-201220341
29 CASP10 NM_032977.3(CASP10):c.*2869A>C SNV Uncertain significance 333484 rs886055425 GRCh37: 2:202085333-202085333
GRCh38: 2:201220610-201220610
30 CASP10 NM_032977.3(CASP10):c.*1538T>A SNV Uncertain significance 333464 rs886055416 GRCh37: 2:202084002-202084002
GRCh38: 2:201219279-201219279
31 CASP10 NM_032977.3(CASP10):c.*2986C>T SNV Uncertain significance 333487 rs886055428 GRCh37: 2:202085450-202085450
GRCh38: 2:201220727-201220727
32 CASP10 NM_032977.3(CASP10):c.*3835G>A SNV Uncertain significance 333496 rs536525827 GRCh37: 2:202086299-202086299
GRCh38: 2:201221576-201221576
33 CASP10 NM_032977.3(CASP10):c.*657G>C SNV Uncertain significance 333450 rs886055408 GRCh37: 2:202083121-202083121
GRCh38: 2:201218398-201218398
34 CASP10 NM_032977.3(CASP10):c.361G>A (p.Glu121Lys) SNV Uncertain significance 333421 rs565907504 GRCh37: 2:202052442-202052442
GRCh38: 2:201187719-201187719
35 CASP10 NM_032977.3(CASP10):c.*3473T>G SNV Uncertain significance 333493 rs886055430 GRCh37: 2:202085937-202085937
GRCh38: 2:201221214-201221214
36 CASP10 NM_032977.3(CASP10):c.*905C>T SNV Uncertain significance 333456 rs886055411 GRCh37: 2:202083369-202083369
GRCh38: 2:201218646-201218646
37 CASP10 NM_032977.3(CASP10):c.*1125T>C SNV Uncertain significance 333459 rs886055413 GRCh37: 2:202083589-202083589
GRCh38: 2:201218866-201218866
38 CASP10 NM_032977.3(CASP10):c.*136A>G SNV Uncertain significance 333444 rs747374452 GRCh37: 2:202082600-202082600
GRCh38: 2:201217877-201217877
39 CASP10 NM_001206524.2(CASP10):c.722-899C>T SNV Uncertain significance 661762 rs748988477 GRCh37: 2:202072894-202072894
GRCh38: 2:201208171-201208171
40 CASP10 NM_032977.4(CASP10):c.786C>G (p.Asn262Lys) SNV Uncertain significance 835257 GRCh37: 2:202070669-202070669
GRCh38: 2:201205946-201205946
41 CASP10 NM_032977.4(CASP10):c.554T>G (p.Ile185Arg) SNV Uncertain significance 840409 GRCh37: 2:202057819-202057819
GRCh38: 2:201193096-201193096
42 CASP10 NM_032977.4(CASP10):c.802A>C (p.Thr268Pro) SNV Uncertain significance 847605 GRCh37: 2:202070685-202070685
GRCh38: 2:201205962-201205962
43 CASP10 NM_032977.4(CASP10):c.887C>T (p.Ser296Phe) SNV Uncertain significance 942107 GRCh37: 2:202072871-202072871
GRCh38: 2:201208148-201208148
44 CASP10 NM_032977.3(CASP10):c.853C>T (p.Leu285Phe) SNV Uncertain significance 7764 rs17860403 GRCh37: 2:202072837-202072837
GRCh38: 2:201208114-201208114
45 CASP10 NM_032977.4(CASP10):c.1537T>C (p.Phe513Leu) SNV Uncertain significance 953712 GRCh37: 2:202082432-202082432
GRCh38: 2:201217709-201217709
46 CASP10 NM_032977.4(CASP10):c.*1954C>T SNV Uncertain significance 897451 GRCh37: 2:202084418-202084418
GRCh38: 2:201219695-201219695
47 CASP10 NM_032977.4(CASP10):c.*2381G>C SNV Uncertain significance 897452 GRCh37: 2:202084845-202084845
GRCh38: 2:201220122-201220122
48 CASP10 NM_032977.4(CASP10):c.*3845C>T SNV Uncertain significance 897518 GRCh37: 2:202086309-202086309
GRCh38: 2:201221586-201221586
49 CASP10 NM_032977.4(CASP10):c.721G>C (p.Gly241Arg) SNV Uncertain significance 897315 GRCh37: 2:202068489-202068489
GRCh38: 2:201203766-201203766
50 CASP10 NM_032977.4(CASP10):c.1025A>G (p.Asn342Ser) SNV Uncertain significance 898479 GRCh37: 2:202073895-202073895
GRCh38: 2:201209172-201209172

UniProtKB/Swiss-Prot genetic disease variations for Autoimmune Lymphoproliferative Syndrome, Type Iia:

72
# Symbol AA change Variation ID SNP ID
1 CASP10 p.Leu285Phe VAR_014071 rs17860403

Expression for Autoimmune Lymphoproliferative Syndrome, Type Iia

Search GEO for disease gene expression data for Autoimmune Lymphoproliferative Syndrome, Type Iia.

Pathways for Autoimmune Lymphoproliferative Syndrome, Type Iia

Pathways related to Autoimmune Lymphoproliferative Syndrome, Type Iia according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1 11.65 CD8A CD4
2 11.59 CD8A CD4
3 11.5 CD8A CD4
4 11.48 CD4 CASP10
5
Show member pathways
11.46 CD8A CD4
6
Show member pathways
11.4 CD8A CD4
7 11.32 CD8A CD4
8 11.16 CD8A CD4
9 11.02 CD8A CD4
10 10.81 CD8A CD4
11 10.2 CD8A CD4

GO Terms for Autoimmune Lymphoproliferative Syndrome, Type Iia

Cellular components related to Autoimmune Lymphoproliferative Syndrome, Type Iia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 T cell receptor complex GO:0042101 8.62 CD8A CD4

Biological processes related to Autoimmune Lymphoproliferative Syndrome, Type Iia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.26 CD4 CASP10
2 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.16 CD8A CD4
3 T cell activation GO:0042110 8.96 CD8A CD4
4 cell surface receptor signaling pathway GO:0007166 8.8 CD8A CD4 CASP10

Molecular functions related to Autoimmune Lymphoproliferative Syndrome, Type Iia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 coreceptor activity GO:0015026 8.62 CD8A CD4

Sources for Autoimmune Lymphoproliferative Syndrome, Type Iia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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