ALPS2A
MCID: ATM097
MIFTS: 43

Autoimmune Lymphoproliferative Syndrome, Type Iia (ALPS2A)

Categories: Blood diseases, Cancer diseases, Genetic diseases, Immune diseases, Infectious diseases, Nephrological diseases, Rare diseases
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Aliases & Classifications for Autoimmune Lymphoproliferative Syndrome, Type Iia

MalaCards integrated aliases for Autoimmune Lymphoproliferative Syndrome, Type Iia:

Name: Autoimmune Lymphoproliferative Syndrome, Type Iia 57 43 71
Autoimmune Lymphoproliferative Syndrome, Type Ii 57 73 12 53 38
Autoimmune Lymphoproliferative Syndrome Type 2a 11 28 5 14
Alps2a 57 11 73
Autoimmune Lymphoproliferative Syndrome Type Iia 11 73
Alps2 57 73
Autoimmune Lymphoproliferative Syndrome 2a 73

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in infancy or childhood


Classifications:



Summaries for Autoimmune Lymphoproliferative Syndrome, Type Iia

UniProtKB/Swiss-Prot: 73 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 anemia, autoimmune hemolytic. An important gene associated with Autoimmune Lymphoproliferative Syndrome, Type Iia is CASP10 (Caspase 10), and among its related pathways/superpathways are T-cell activation SARS-CoV-2 and Hematopoietic Stem Cells and Lineage-specific Markers. Affiliated tissues include t cells, smooth muscle and b cells, and related phenotypes are splenomegaly and hepatomegaly

Disease Ontology: 11 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 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 345)
# Related Disease Score Top Affiliating Genes
1 exanthem 30.1 CD8A CD4
2 anemia, autoimmune hemolytic 30.1 CD8A CD4
3 autoimmune lymphoproliferative syndrome 29.7 CD8A CD4 CASP10
4 deficiency anemia 10.1
5 lymphoproliferative syndrome 10.1
6 pericarditis 10.1
7 juvenile rheumatoid arthritis 10.1
8 splenomegaly 10.1
9 systemic onset juvenile idiopathic arthritis 10.1
10 autoimmune hemolytic anemia, warm type 10.1
11 periodic fever, familial, autosomal dominant 10.1
12 lymphatic system disease 10.1
13 hilar lung neoplasm 9.9 CD8A CD4
14 oral tuberculosis 9.9 CD8A CD4
15 early yaws 9.9 CD8A CD4
16 ventilation pneumonitis 9.9 CD8A CD4
17 diffuse infiltrative lymphocytosis syndrome 9.9 CD8A CD4
18 wissler-fanconi syndrome 9.9 CD8A CD4
19 encephalitozoonosis 9.9 CD8A CD4
20 type 1 diabetes mellitus 23 9.9 CD8A CD4
21 cork-handlers' disease 9.9 CD8A CD4
22 follicular mucinosis 9.9 CD8A CD4
23 suppurative lymphadenitis 9.9 CD8A CD4
24 bird fancier's lung 9.9 CD8A CD4
25 parapsoriasis 9.9 CD8A CD4
26 primary syphilis 9.9 CD8A CD4
27 syphilis 9.9 CD8A CD4
28 granulomatous angiitis 9.9 CD8A CD4
29 primary cutaneous gamma-delta t-cell lymphoma 9.9 CD8A CD4
30 gastroduodenitis 9.9 CD8A CD4
31 duodenitis 9.9 CD8A CD4
32 thymic dysplasia 9.9 CD8A CD4
33 splenic abscess 9.9 CD8A CD4
34 mooren's ulcer 9.9 CD8A CD4
35 herpes simplex virus keratitis 9.9 CD8A CD4
36 granulomatous dermatitis 9.9 CD8A CD4
37 acute retinal necrosis syndrome 9.9 CD8A CD4
38 granulomatous hepatitis 9.9 CD8A CD4
39 norwegian scabies 9.9 CD8A CD4
40 scabies 9.9 CD8A CD4
41 orbital cellulitis 9.9 CD8A CD4
42 cellulitis 9.9 CD8A CD4
43 acute orbital inflammation 9.9 CD8A CD4
44 viral exanthem 9.9 CD8A CD4
45 tertiary syphilis 9.9 CD8A CD4
46 spongiotic dermatitis 9.9 CD8A CD4
47 cerebritis 9.9 CD8A CD4
48 skin sarcoidosis 9.9 CD8A CD4
49 metal allergy 9.9 CD8A CD4
50 autoimmune peripheral neuropathy 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:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Abdomen Spleen:
splenomegaly

Genitourinary Kidneys:
nephrotic syndrome
nephritis
membranous glomerulonephropathy

Hematology:
eosinophilia
iron deficiency anemia
autoimmune hemolytic anemia
autoimmune thrombocytopenia
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 08-Dec-2022)

Drugs & Therapeutics for Autoimmune Lymphoproliferative Syndrome, Type Iia

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

Cochrane evidence based reviews: 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 28 CASP10

Anatomical Context for Autoimmune Lymphoproliferative Syndrome, Type Iia

Organs/tissues related to Autoimmune Lymphoproliferative Syndrome, Type Iia:

MalaCards : 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. 53 62 57 5
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. 53 62
11397650 2001
5
Sensing membrane stresses by protein insertions. 62
24722359 2014
6
Exonic deletion of CASP10 in a patient presenting with systemic juvenile idiopathic arthritis, but not with autoimmune lymphoproliferative syndrome type IIa. 62
21382177 2011
7
Two lipid-packing sensor motifs contribute to the sensitivity of ArfGAP1 to membrane curvature. 62
17253781 2007
8
Revision of the diagnosis of T-zone lymphoma in the father of a patient with autoimmune lymphoproliferative syndrome type II. 62
10520011 1999
9
Reversible monoclonal lymphadenopathy in autoimmune lymphoproliferative syndrome with functional FAS (CD95/APO-1) deficiency. 62
10403307 1999

Variations for Autoimmune Lymphoproliferative Syndrome, Type Iia

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

5 (show top 50) (show all 310)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CASP10 NM_032977.4(CASP10):c.1504del (p.Gln502fs) DEL Pathogenic
1685600 GRCh37: 2:202082396-202082396
GRCh38: 2:201217673-201217673
2 CASP10 NM_032977.4(CASP10):c.442-14T>G SNV Conflicting Interpretations Of Pathogenicity
895421 rs755555484 GRCh37: 2:202057693-202057693
GRCh38: 2:201192970-201192970
3 CASP10 NM_032977.4(CASP10):c.913A>G (p.Lys305Glu) SNV Conflicting Interpretations Of Pathogenicity
897316 rs149912574 GRCh37: 2:202072897-202072897
GRCh38: 2:201208174-201208174
4 CASP10 NM_032977.4(CASP10):c.879C>A (p.Ser293Arg) SNV Conflicting Interpretations Of Pathogenicity
333431 rs369897442 GRCh37: 2:202072863-202072863
GRCh38: 2:201208140-201208140
5 CASP10 NM_032977.4(CASP10):c.1466G>A (p.Arg489Gln) SNV Conflicting Interpretations Of Pathogenicity
333440 rs535121774 GRCh37: 2:202082361-202082361
GRCh38: 2:201217638-201217638
6 CASP10 NM_032977.4(CASP10):c.534A>G (p.Val178=) SNV Conflicting Interpretations Of Pathogenicity
333424 rs146233833 GRCh37: 2:202057799-202057799
GRCh38: 2:201193076-201193076
7 CASP10 NM_032977.4(CASP10):c.20A>G (p.His7Arg) SNV Conflicting Interpretations Of Pathogenicity
333415 rs200935960 GRCh37: 2:202050520-202050520
GRCh38: 2:201185797-201185797
8 CASP10 NM_032977.4(CASP10):c.502A>G (p.Thr168Ala) SNV Uncertain Significance
895424 rs371962581 GRCh37: 2:202057767-202057767
GRCh38: 2:201193044-201193044
9 CASP10 NM_032977.4(CASP10):c.507C>G (p.Cys169Trp) SNV Uncertain Significance
565644 rs774005416 GRCh37: 2:202057772-202057772
GRCh38: 2:201193049-201193049
10 CASP10 NM_032977.3(CASP10):c.-314G>A SNV Uncertain Significance
896762 rs1284865224 GRCh37: 2:202047725-202047725
GRCh38: 2:201183002-201183002
11 CASP10 NM_032977.4(CASP10):c.620C>T (p.Ser207Leu) SNV Uncertain Significance
653604 rs770997816 GRCh37: 2:202060607-202060607
GRCh38: 2:201195884-201195884
12 CASP10 NM_032977.4(CASP10):c.1567T>C (p.Ter523Gln) SNV Uncertain Significance
504411 rs1465277007 GRCh37: 2:202082462-202082462
GRCh38: 2:201217739-201217739
13 CASP10 NM_032977.4(CASP10):c.1093del (p.Tyr365fs) DEL Uncertain Significance
535756 rs781003519 GRCh37: 2:202073963-202073963
GRCh38: 2:201209240-201209240
14 CASP10 NM_032977.4(CASP10):c.920C>A (p.Ala307Asp) SNV Uncertain Significance
535757 rs1291372845 GRCh37: 2:202072904-202072904
GRCh38: 2:201208181-201208181
15 CASP10 NM_032977.4(CASP10):c.953G>A (p.Gly318Glu) SNV Uncertain Significance
535758 rs138931498 GRCh37: 2:202073823-202073823
GRCh38: 2:201209100-201209100
16 CASP10 NM_032977.4(CASP10):c.247C>G (p.Leu83Val) SNV Uncertain Significance
535759 rs759913674 GRCh37: 2:202050747-202050747
GRCh38: 2:201186024-201186024
17 CASP10 NM_032977.4(CASP10):c.1202_1208del (p.Cys401fs) DEL Uncertain Significance
535760 rs747900630 GRCh37: 2:202074072-202074078
GRCh38: 2:201209349-201209355
18 CASP10 NM_032977.4(CASP10):c.683C>T (p.Pro228Leu) SNV Uncertain Significance
535761 rs143882052 GRCh37: 2:202060670-202060670
GRCh38: 2:201195947-201195947
19 CASP10 NM_032977.4(CASP10):c.791T>C (p.Leu264Pro) SNV Uncertain Significance
1715592 GRCh37: 2:202070674-202070674
GRCh38: 2:201205951-201205951
20 CASP10 NM_032977.4(CASP10):c.1376T>G (p.Ile459Ser) SNV Uncertain Significance
1715731 GRCh37: 2:202074246-202074246
GRCh38: 2:201209523-201209523
21 CASP10 NM_032977.4(CASP10):c.584A>G (p.Gln195Arg) SNV Uncertain Significance
1721609 GRCh37: 2:202060571-202060571
GRCh38: 2:201195848-201195848
22 CASP10 NM_032977.4(CASP10):c.924G>C (p.Glu308Asp) SNV Uncertain Significance
1719862 GRCh37: 2:202073794-202073794
GRCh38: 2:201209071-201209071
23 CASP10 NM_032977.4(CASP10):c.853C>T (p.Leu285Phe) SNV Uncertain Significance
7764 rs17860403 GRCh37: 2:202072837-202072837
GRCh38: 2:201208114-201208114
24 CASP10 NM_032977.4(CASP10):c.325C>T (p.Arg109Ter) SNV Uncertain Significance
801852 rs201601111 GRCh37: 2:202050825-202050825
GRCh38: 2:201186102-201186102
25 CASP10 NC_000002.12:g.(?_201192964)_(201193139_?)dup DUP Uncertain Significance
833232 GRCh37: 2:202057687-202057862
GRCh38:
26 CASP10 NC_000002.12:g.(?_201185758)_(201229103_?)dup DUP Uncertain Significance
833235 GRCh37: 2:202050481-202093826
GRCh38:
27 CASP10 NM_032977.4(CASP10):c.786C>G (p.Asn262Lys) SNV Uncertain Significance
835257 rs368675766 GRCh37: 2:202070669-202070669
GRCh38: 2:201205946-201205946
28 CASP10 NM_032977.4(CASP10):c.208C>G (p.Leu70Val) SNV Uncertain Significance
838561 rs1944402071 GRCh37: 2:202050708-202050708
GRCh38: 2:201185985-201185985
29 CASP10 NM_032977.4(CASP10):c.142C>T (p.Pro48Ser) SNV Uncertain Significance
839357 rs200012872 GRCh37: 2:202050642-202050642
GRCh38: 2:201185919-201185919
30 CASP10 NM_032977.4(CASP10):c.554T>G (p.Ile185Arg) SNV Uncertain Significance
840409 rs753049035 GRCh37: 2:202057819-202057819
GRCh38: 2:201193096-201193096
31 CASP10 NM_032977.4(CASP10):c.733A>C (p.Thr245Pro) SNV Uncertain Significance
844627 rs1312829146 GRCh37: 2:202070616-202070616
GRCh38: 2:201205893-201205893
32 CASP10 NM_032977.4(CASP10):c.802A>C (p.Thr268Pro) SNV Uncertain Significance
847605 rs770921459 GRCh37: 2:202070685-202070685
GRCh38: 2:201205962-201205962
33 CASP10 NM_032977.4(CASP10):c.797C>T (p.Ser266Phe) SNV Uncertain Significance
849666 rs148554420 GRCh37: 2:202070680-202070680
GRCh38: 2:201205957-201205957
34 CASP10 NM_032977.4(CASP10):c.1415+1G>A SNV Uncertain Significance
851636 rs757635087 GRCh37: 2:202074286-202074286
GRCh38: 2:201209563-201209563
35 CASP10 NM_032977.4(CASP10):c.136T>G (p.Leu46Val) SNV Uncertain Significance
854034 rs1047225163 GRCh37: 2:202050636-202050636
GRCh38: 2:201185913-201185913
36 CASP10 NM_032977.4(CASP10):c.553A>G (p.Ile185Val) SNV Uncertain Significance
857497 rs369231920 GRCh37: 2:202057818-202057818
GRCh38: 2:201193095-201193095
37 CASP10 NM_032977.4(CASP10):c.1288A>T (p.Ile430Phe) SNV Uncertain Significance
860550 rs762718326 GRCh37: 2:202074158-202074158
GRCh38: 2:201209435-201209435
38 CASP10 NM_032977.4(CASP10):c.1207G>C (p.Gly403Arg) SNV Uncertain Significance
935213 rs916343393 GRCh37: 2:202074077-202074077
GRCh38: 2:201209354-201209354
39 CASP10 NM_032977.4(CASP10):c.146A>G (p.Asn49Ser) SNV Uncertain Significance
936365 rs559658034 GRCh37: 2:202050646-202050646
GRCh38: 2:201185923-201185923
40 CASP10 NM_032977.4(CASP10):c.887C>T (p.Ser296Phe) SNV Uncertain Significance
942107 rs146654699 GRCh37: 2:202072871-202072871
GRCh38: 2:201208148-201208148
41 CASP10 NM_032977.4(CASP10):c.577+3A>G SNV Uncertain Significance
947590 rs780947440 GRCh37: 2:202057845-202057845
GRCh38: 2:201193122-201193122
42 CASP10 NM_032977.4(CASP10):c.1226C>A (p.Ser409Tyr) SNV Uncertain Significance
947840 rs1409279830 GRCh37: 2:202074096-202074096
GRCh38: 2:201209373-201209373
43 CASP10 NM_032977.4(CASP10):c.554T>C (p.Ile185Thr) SNV Uncertain Significance
948684 rs753049035 GRCh37: 2:202057819-202057819
GRCh38: 2:201193096-201193096
44 CASP10 NM_032977.4(CASP10):c.809C>A (p.Thr270Lys) SNV Uncertain Significance
949533 rs1945189904 GRCh37: 2:202070692-202070692
GRCh38: 2:201205969-201205969
45 CASP10 NM_032977.4(CASP10):c.477del (p.Gly160fs) DEL Uncertain Significance
953582 rs766461320 GRCh37: 2:202057741-202057741
GRCh38: 2:201193018-201193018
46 CASP10 NM_032977.4(CASP10):c.1537T>C (p.Phe513Leu) SNV Uncertain Significance
953712 rs143632134 GRCh37: 2:202082432-202082432
GRCh38: 2:201217709-201217709
47 CASP10 NM_032977.4(CASP10):c.1416-3C>A SNV Uncertain Significance
954828 rs1945611761 GRCh37: 2:202082308-202082308
GRCh38: 2:201217585-201217585
48 CASP10 NM_032977.4(CASP10):c.1418A>G (p.His473Arg) SNV Uncertain Significance
958661 rs538186121 GRCh37: 2:202082313-202082313
GRCh38: 2:201217590-201217590
49 CASP10 NM_032977.4(CASP10):c.838C>T (p.Arg280Trp) SNV Uncertain Significance
961874 rs1351292534 GRCh37: 2:202072822-202072822
GRCh38: 2:201208099-201208099
50 CASP10 NM_032977.4(CASP10):c.555A>G (p.Ile185Met) SNV Uncertain Significance
962796 rs758869726 GRCh37: 2:202057820-202057820
GRCh38: 2:201193097-201193097

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

73
# 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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.59 CD8A CD4
2 11.39 CD8A CD4
3 11.35 CD4 CASP10
4
Show member pathways
11.3 CD8A CD4
5 11.06 CD8A CD4
6
Show member pathways
10.84 CD8A CD4
7 10.49 CD8A CD4

GO Terms for Autoimmune Lymphoproliferative Syndrome, Type Iia

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

# Name GO ID Score Top Affiliating Genes
1 T cell activation GO:0042110 8.92 CD8A CD4

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 8.92 CD8A CD4

Sources for Autoimmune Lymphoproliferative Syndrome, Type Iia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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