MCID: LYM114
MIFTS: 47

Lymphoproliferative Syndrome, X-Linked, 2

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

Aliases & Classifications for Lymphoproliferative Syndrome, X-Linked, 2

MalaCards integrated aliases for Lymphoproliferative Syndrome, X-Linked, 2:

Name: Lymphoproliferative Syndrome, X-Linked, 2 57 53 75 13 73
Xiap Deficiency 57 12 53 75
Xlp2 57 12 53 75
X-Linked Lymphoproliferative Syndrome 2 12 53 15
Lymphoproliferative Syndrome 2, X-Linked 29 6
Xiap-Related Lymphoproliferative Disease, X-Linked 53
Lymphoproliferative Syndrome, X-Linked, Type 2 40

Characteristics:

OMIM:

57
Miscellaneous:
highly variable phenotype
onset in first decades of life, usually early childhood
later onset can occur
death can occur
males are more severely affected
some female carries may have milder manifestations
the incidence of mutation in xiap leading to xlp2 is estimated to be 1 to 2 cases per million live births

Inheritance:
x-linked recessive


HPO:

32
lymphoproliferative syndrome, x-linked, 2:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 57 300635
Disease Ontology 12 DOID:0060706
ICD10 33 D82.3
MedGen 42 C1845076
MeSH 44 D008232
UMLS 73 C1845076

Summaries for Lymphoproliferative Syndrome, X-Linked, 2

OMIM : 57 XLP2 is an X-linked primary immune deficiency with symptom onset usually in the first years of life, although later onset may occur. Features are compatible with immune dysregulation and include hemophagocytic lymphohistiocytosis (HLH), often associated with chronic Epstein-Barr virus (EBV) infection, splenomegaly, fever, colitis or inflammatory bowel disease (IBD), and recurrent infections. Laboratory abnormalities are variable, but can include hypogammaglobulinemia, cytopenias, and low levels of a particular subset of T cells known as NKT (or iNKT) cells. Functional studies show increased sensitivity of T cells to apoptosis (activation-induced cell death, AICD), impaired cytokine production, including of TNF-alpha (TNFA; 191160), and general dysregulation of the immune pathway, such as increased levels of IL18 (600953). However, circulating levels of lymphocytes and NK cells are usually normal. Many patients die from fulminant HLH, and the only curative treatment is a hematopoietic stem cell transplant, although this procedure has been associated with a poor prognosis. Female mutation carriers are usually asymptomatic, although some female carriers may have less severe manifestations, which appears to depend on X-inactivation patterns (summary by Yang et al., 2012; review by Latour and Aguilar, 2015). Latour and Aguilar (2015) provided a detailed review of XIAP deficiency, including clinical features, molecular genetics, and pathophysiology. For a general phenotypic description and a discussion of genetic heterogeneity of X-linked lymphoproliferative syndrome, see XLP1 (308240). (300635)

MalaCards based summary : Lymphoproliferative Syndrome, X-Linked, 2, also known as xiap deficiency, is related to hemophagocytic lymphohistiocytosis and lymphoproliferative syndrome. An important gene associated with Lymphoproliferative Syndrome, X-Linked, 2 is XIAP (X-Linked Inhibitor Of Apoptosis), and among its related pathways/superpathways are Toll-like Receptor Signaling Pathway and Deubiquitination. The drugs Krestin and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include t cells, nk cells and b cells, and related phenotypes are splenomegaly and fever

Disease Ontology : 12 A lymphoproliferative syndrome characterized by X-linked inheritance, immune dysregulation after viral infect that may include lymphohystiocytosis, hypogammaglobulinemia and/or splenomegaly and that has material basis in mutation in the XIAP gene on chromosome Xq25.

UniProtKB/Swiss-Prot : 75 Lymphoproliferative syndrome, X-linked, 2: A rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus (EBV). Symptoms include severe or fatal mononucleosis, acquired hypogammaglobulinemia, pancytopenia and malignant lymphoma.

Related Diseases for Lymphoproliferative Syndrome, X-Linked, 2

Diseases in the Lymphoproliferative Syndrome, X-Linked, 1 family:

Lymphoproliferative Syndrome, X-Linked, 2

Diseases related to Lymphoproliferative Syndrome, X-Linked, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 hemophagocytic lymphohistiocytosis 29.4 SH2D1A STXBP2 XIAP
2 lymphoproliferative syndrome 29.1 SH2D1A XIAP
3 lymphoproliferative syndrome, x-linked, 1 28.9 SH2D1A STXBP2 XIAP
4 dysgammaglobulinemia 10.1 SH2D1A XIAP
5 selective immunoglobulin deficiency disease 10.0 SH2D1A STXBP2
6 niemann-pick disease, type c1 9.7
7 crohn's disease 9.7
8 niemann-pick disease 9.7
9 inflammatory bowel disease 9.7
10 lymphatic system disease 9.7 SH2D1A STXBP2
11 inflammatory bowel disease 9 9.6 NOD1 NOD2
12 inflammatory bowel disease 1 9.5 NOD1 NOD2
13 inflammatory bowel disease 3 9.4 NOD1 NOD2
14 blau syndrome 9.3 NOD1 NOD2

Graphical network of the top 20 diseases related to Lymphoproliferative Syndrome, X-Linked, 2:



Diseases related to Lymphoproliferative Syndrome, X-Linked, 2

Symptoms & Phenotypes for Lymphoproliferative Syndrome, X-Linked, 2

Symptoms via clinical synopsis from OMIM:

57
AbdomenSpleen:
splenomegaly

Abdomen Liver:
hepatomegaly

Immunology:
recurrent infections
hypogammaglobulinemia (in some patients)
recurrent fever
primary immunodeficiency
hemophagocytic lymphohistiocytosis (hlh)
more
Hematology:
pancytopenia (in some patients)
aplastic anemia (rare)

Respiratory:
recurrent respiratory infections

Skin Nails Hair Skin:
acne
erythema nodosum
folliculitis
skin infections

Abdomen Gastrointestinal:
colitis
inflammatory bowel disease


Clinical features from OMIM:

300635

Human phenotypes related to Lymphoproliferative Syndrome, X-Linked, 2:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 32 very rare (1%) HP:0001744
2 fever 32 very rare (1%) HP:0001945
3 hypertriglyceridemia 32 very rare (1%) HP:0002155
4 increased serum ferritin 32 very rare (1%) HP:0003281
5 decreased antibody level in blood 32 HP:0004313
6 hypofibrinogenemia 32 very rare (1%) HP:0011900
7 hepatitis 32 very rare (1%) HP:0012115
8 hemophagocytosis 32 very rare (1%) HP:0012156

GenomeRNAi Phenotypes related to Lymphoproliferative Syndrome, X-Linked, 2 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.53 NOD1 NOD2 RIPK2 XIAP
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.53 NOD1 NOD2 RIPK2 XIAP

MGI Mouse Phenotypes related to Lymphoproliferative Syndrome, X-Linked, 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.43 NOD1 NOD2 RIPK2 SH2D1A STXBP2 XIAP
2 immune system MP:0005387 9.1 NOD1 NOD2 RIPK2 SH2D1A STXBP2 XIAP

Drugs & Therapeutics for Lymphoproliferative Syndrome, X-Linked, 2

Drugs for Lymphoproliferative Syndrome, X-Linked, 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Krestin Phase 3
2 Pharmaceutical Solutions Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Therapeutic Use of Tadekinig Alfa in NLRC4 Mutation and XIAP Deficiency as Open Label Extension Recruiting NCT03512314 Phase 3 Tadekinig alfa
2 Therapeutic Use of Tadekinig Alfa in NLRC4 Mutation and XIAP Deficiency Recruiting NCT03113760 Phase 3 Tadekinig alfa;Placebo
3 Study of Gut Microbiota in Primary Immune Deficiency, Possibly Associated With Inflammatory Bowel Disease Completed NCT02909244

Search NIH Clinical Center for Lymphoproliferative Syndrome, X-Linked, 2

Genetic Tests for Lymphoproliferative Syndrome, X-Linked, 2

Genetic tests related to Lymphoproliferative Syndrome, X-Linked, 2:

# Genetic test Affiliating Genes
1 Lymphoproliferative Syndrome 2, X-Linked 29 XIAP

Anatomical Context for Lymphoproliferative Syndrome, X-Linked, 2

MalaCards organs/tissues related to Lymphoproliferative Syndrome, X-Linked, 2:

41
T Cells, Nk Cells, B Cells, Monocytes, Skin, Testes

Publications for Lymphoproliferative Syndrome, X-Linked, 2

Articles related to Lymphoproliferative Syndrome, X-Linked, 2:

(show all 12)
# Title Authors Year
1
How genetic testing can lead to targeted management of XIAP deficiency-related inflammatory bowel disease. ( 27416006 )
2017
2
XIAP deficiency and MEFV variants resulting in an autoinflammatory lymphoproliferative syndrome. ( 27681353 )
2016
3
Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease. ( 26953272 )
2016
4
XIAP deficiency syndrome in humans. ( 25666262 )
2015
5
Symptomatic males and female carriers in a large Caucasian kindred with XIAP deficiency. ( 25943627 )
2015
6
Sustained elevation of serum interleukin-18 and its association with hemophagocytic lymphohistiocytosis in XIAP deficiency. ( 24084330 )
2014
7
Successful stem cell transplant with antibody-based conditioning for XIAP deficiency with refractory hemophagocytic lymphohistiocytosis. ( 23766462 )
2013
8
X-linked inhibitor of apoptosis (XIAP) deficiency: the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis. ( 23973892 )
2013
9
SAP and XIAP deficiency in hemophagocytic lymphohistiocytosis. ( 22672194 )
2012
10
XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease. ( 20489057 )
2010
11
A rapid flow cytometric screening test for X-linked lymphoproliferative disease due to XIAP deficiency. ( 19288545 )
2009
12
XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. ( 17080092 )
2006

Variations for Lymphoproliferative Syndrome, X-Linked, 2

ClinVar genetic disease variations for Lymphoproliferative Syndrome, X-Linked, 2:

6
(show all 39)
# Gene Variation Type Significance SNP ID Assembly Location
1 XIAP NM_001167.3(XIAP): c.292delC (p.Glu99Lysfs) deletion Pathogenic GRCh37 Chromosome X, 123019804: 123019804
2 XIAP NM_001167.3(XIAP): c.292delC (p.Glu99Lysfs) deletion Pathogenic GRCh38 Chromosome X, 123885954: 123885954
3 XIAP NM_001167.3(XIAP): c.352G> T (p.Glu118Ter) single nucleotide variant Pathogenic rs104894764 GRCh37 Chromosome X, 123019864: 123019864
4 XIAP NM_001167.3(XIAP): c.352G> T (p.Glu118Ter) single nucleotide variant Pathogenic rs104894764 GRCh38 Chromosome X, 123886014: 123886014
5 XIAP XIAP, 2606-BP DEL deletion Pathogenic
6 XIAP NM_001167.3(XIAP): c.608G> A (p.Cys203Tyr) single nucleotide variant Pathogenic rs387907301 GRCh37 Chromosome X, 123020120: 123020120
7 XIAP NM_001167.3(XIAP): c.608G> A (p.Cys203Tyr) single nucleotide variant Pathogenic rs387907301 GRCh38 Chromosome X, 123886270: 123886270
8 XIAP NM_001167.3(XIAP): c.1048_1050delGAG (p.Glu350del) deletion Uncertain significance rs1085307106 GRCh37 Chromosome X, 123025158: 123025160
9 XIAP NM_001167.3(XIAP): c.1048_1050delGAG (p.Glu350del) deletion Uncertain significance rs1085307106 GRCh38 Chromosome X, 123891308: 123891310
10 XIAP NM_001167.3(XIAP): c.1268A> C (p.Gln423Pro) single nucleotide variant Benign rs5956583 GRCh37 Chromosome X, 123034511: 123034511
11 XIAP NM_001167.3(XIAP): c.1268A> C (p.Gln423Pro) single nucleotide variant Benign rs5956583 GRCh38 Chromosome X, 123900661: 123900661
12 XIAP NM_001167.3(XIAP): c.844G> A (p.Glu282Lys) single nucleotide variant Uncertain significance rs777303823 GRCh37 Chromosome X, 123020356: 123020356
13 XIAP NM_001167.3(XIAP): c.844G> A (p.Glu282Lys) single nucleotide variant Uncertain significance rs777303823 GRCh38 Chromosome X, 123886506: 123886506
14 XIAP NM_001167.3(XIAP): c.1021_1022delAA (p.Asn341Tyrfs) deletion Pathogenic GRCh37 Chromosome X, 123025131: 123025132
15 XIAP NM_001167.3(XIAP): c.1021_1022delAA (p.Asn341Tyrfs) deletion Pathogenic GRCh38 Chromosome X, 123891281: 123891282
16 XIAP NM_001167.3(XIAP): c.651delG (p.Trp217Cysfs) deletion Pathogenic GRCh37 Chromosome X, 123020163: 123020163
17 XIAP NM_001167.3(XIAP): c.651delG (p.Trp217Cysfs) deletion Pathogenic GRCh38 Chromosome X, 123886313: 123886313
18 XIAP NM_001167.3(XIAP): c.672dup (p.Pro225Serfs) duplication Pathogenic GRCh38 Chromosome X, 123886334: 123886334
19 XIAP NM_001167.3(XIAP): c.672dup (p.Pro225Serfs) duplication Pathogenic GRCh37 Chromosome X, 123020184: 123020184
20 XIAP NM_001167.3(XIAP): c.171A> G (p.Glu57=) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 123885833: 123885833
21 XIAP NM_001167.3(XIAP): c.171A> G (p.Glu57=) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 123019683: 123019683
22 XIAP NM_001167.3(XIAP): c.769C> G (p.Pro257Ala) single nucleotide variant Benign rs138783302 GRCh37 Chromosome X, 123020281: 123020281
23 XIAP NM_001167.3(XIAP): c.769C> G (p.Pro257Ala) single nucleotide variant Benign rs138783302 GRCh38 Chromosome X, 123886431: 123886431
24 XIAP NM_001167.3(XIAP): c.878-5C> T single nucleotide variant Benign rs367801081 GRCh38 Chromosome X, 123888614: 123888614
25 XIAP NM_001167.3(XIAP): c.878-5C> T single nucleotide variant Benign rs367801081 GRCh37 Chromosome X, 123022464: 123022464
26 XIAP NM_001167.3(XIAP): c.276T> C (p.Phe92=) single nucleotide variant Benign rs45575532 GRCh38 Chromosome X, 123885938: 123885938
27 XIAP NM_001167.3(XIAP): c.276T> C (p.Phe92=) single nucleotide variant Benign rs45575532 GRCh37 Chromosome X, 123019788: 123019788
28 XIAP NM_001167.3(XIAP): c.455C> G (p.Thr152Ser) single nucleotide variant Benign rs150317928 GRCh38 Chromosome X, 123886117: 123886117
29 XIAP NM_001167.3(XIAP): c.455C> G (p.Thr152Ser) single nucleotide variant Benign rs150317928 GRCh37 Chromosome X, 123019967: 123019967
30 XIAP NM_001167.3(XIAP): c.688G> A (p.Val230Ile) single nucleotide variant Likely benign rs144884904 GRCh38 Chromosome X, 123886350: 123886350
31 XIAP NM_001167.3(XIAP): c.688G> A (p.Val230Ile) single nucleotide variant Likely benign rs144884904 GRCh37 Chromosome X, 123020200: 123020200
32 XIAP NM_001167.3(XIAP): c.389_392delACAG (p.Asp130Glyfs) deletion Pathogenic GRCh37 Chromosome X, 123019901: 123019904
33 XIAP NM_001167.3(XIAP): c.389_392delACAG (p.Asp130Glyfs) deletion Pathogenic GRCh38 Chromosome X, 123886051: 123886054
34 XIAP NM_001167.3(XIAP): c.435G> T (p.Gln145His) single nucleotide variant Uncertain significance rs759909620 GRCh37 Chromosome X, 123019947: 123019947
35 XIAP NM_001167.3(XIAP): c.435G> T (p.Gln145His) single nucleotide variant Uncertain significance rs759909620 GRCh38 Chromosome X, 123886097: 123886097
36 XIAP NM_001167.3(XIAP): c.73G> C (p.Glu25Gln) single nucleotide variant Likely benign rs781204574 GRCh38 Chromosome X, 123885735: 123885735
37 XIAP NM_001167.3(XIAP): c.73G> C (p.Glu25Gln) single nucleotide variant Likely benign rs781204574 GRCh37 Chromosome X, 123019585: 123019585
38 XIAP NM_001167.3(XIAP): c.664C> T (p.Arg222Ter) single nucleotide variant Pathogenic GRCh38 Chromosome X, 123886326: 123886326
39 XIAP NM_001167.3(XIAP): c.664C> T (p.Arg222Ter) single nucleotide variant Pathogenic GRCh37 Chromosome X, 123020176: 123020176

Expression for Lymphoproliferative Syndrome, X-Linked, 2

Search GEO for disease gene expression data for Lymphoproliferative Syndrome, X-Linked, 2.

Pathways for Lymphoproliferative Syndrome, X-Linked, 2

Pathways related to Lymphoproliferative Syndrome, X-Linked, 2 according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.52 NOD1 NOD2 RIPK2 XIAP
2
Show member pathways
12.39 NOD1 NOD2 RIPK2
3 12.17 NOD1 RIPK2 SH2D1A
4
Show member pathways
12.04 NOD1 NOD2 RIPK2
5
Show member pathways
11.89 NOD1 NOD2 RIPK2
6 11.76 NOD1 RIPK2 XIAP
7
Show member pathways
11.49 NOD1 NOD2 RIPK2
8 11.14 NOD1 NOD2 RIPK2
9 10.79 NOD2 RIPK2
10 10.7 NOD1 NOD2 RIPK2
11 10.54 NOD1 NOD2 RIPK2 XIAP

GO Terms for Lymphoproliferative Syndrome, X-Linked, 2

Cellular components related to Lymphoproliferative Syndrome, X-Linked, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.1 NOD1 NOD2 RIPK2 SH2D1A STXBP2 XIAP

Biological processes related to Lymphoproliferative Syndrome, X-Linked, 2 according to GeneCards Suite gene sharing:

(show all 38)
# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.89 NOD1 NOD2 RIPK2 SH2D1A
2 innate immune response GO:0045087 9.88 NOD1 NOD2 RIPK2 SH2D1A
3 apoptotic process GO:0006915 9.85 NOD1 RIPK2 XIAP
4 inflammatory response GO:0006954 9.83 NOD1 NOD2 RIPK2
5 regulation of apoptotic process GO:0042981 9.81 NOD1 NOD2 RIPK2
6 protein deubiquitination GO:0016579 9.8 NOD1 NOD2 RIPK2
7 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.79 NOD1 NOD2 RIPK2
8 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.77 NOD1 NOD2 RIPK2
9 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.76 NOD1 NOD2 RIPK2
10 activation of MAPK activity GO:0000187 9.73 NOD1 NOD2 RIPK2
11 interleukin-1-mediated signaling pathway GO:0070498 9.69 NOD1 NOD2 RIPK2
12 negative regulation of inflammatory response GO:0050728 9.67 NOD1 NOD2
13 defense response to Gram-positive bacterium GO:0050830 9.67 NOD1 RIPK2
14 negative regulation of NF-kappaB transcription factor activity GO:0032088 9.67 NOD1 NOD2
15 protein complex oligomerization GO:0051259 9.66 NOD1 NOD2
16 positive regulation of protein ubiquitination GO:0031398 9.66 RIPK2 XIAP
17 positive regulation of cell death GO:0010942 9.65 NOD1 RIPK2
18 regulation of cytokine production GO:0001817 9.65 NOD1 NOD2
19 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.64 NOD1 NOD2
20 signaling GO:0023052 9.63 NOD1 NOD2
21 regulation of inflammatory response GO:0050727 9.63 NOD1 NOD2 XIAP
22 regulation of I-kappaB kinase/NF-kappaB signaling GO:0043122 9.62 NOD1 NOD2
23 negative regulation of immune response GO:0050777 9.62 NOD1 NOD2
24 positive regulation of interleukin-1 beta secretion GO:0050718 9.61 NOD2 RIPK2
25 positive regulation of JNK cascade GO:0046330 9.61 NOD1 NOD2 RIPK2
26 positive regulation of interleukin-1 beta production GO:0032731 9.57 NOD1 NOD2
27 detection of bacterium GO:0016045 9.55 NOD1 NOD2
28 positive regulation of dendritic cell antigen processing and presentation GO:0002606 9.54 NOD1 NOD2
29 JNK cascade GO:0007254 9.54 NOD1 NOD2 RIPK2
30 nucleotide-binding oligomerization domain containing 2 signaling pathway GO:0070431 9.52 NOD2 RIPK2
31 positive regulation of interleukin-6 production GO:0032755 9.5 NOD1 NOD2 RIPK2
32 cellular response to peptidoglycan GO:0071224 9.49 NOD2 RIPK2
33 positive regulation of xenophagy GO:1904417 9.48 NOD1 RIPK2
34 positive regulation of tumor necrosis factor production GO:0032760 9.43 NOD1 NOD2 RIPK2
35 detection of biotic stimulus GO:0009595 9.4 NOD1 NOD2
36 nucleotide-binding oligomerization domain containing signaling pathway GO:0070423 9.33 NOD1 NOD2 RIPK2
37 positive regulation of stress-activated MAPK cascade GO:0032874 9.13 NOD1 NOD2 RIPK2
38 cellular response to muramyl dipeptide GO:0071225 8.8 NOD1 NOD2 RIPK2

Molecular functions related to Lymphoproliferative Syndrome, X-Linked, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptidoglycan binding GO:0042834 8.96 NOD1 NOD2
2 CARD domain binding GO:0050700 8.8 NOD1 NOD2 RIPK2

Sources for Lymphoproliferative Syndrome, X-Linked, 2

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
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30 HGMD
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32 HPO
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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