APDS
MCID: IMM102
MIFTS: 49

Immunodeficiency 14 (APDS)

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

Aliases & Classifications for Immunodeficiency 14

MalaCards integrated aliases for Immunodeficiency 14:

Name: Immunodeficiency 14 57 25 75 29 6
Activated Pi3k-Delta Syndrome 57 53 25 59 75 37 40 73
Apds 57 53 25 59 75
Pasli 57 25 75
P110-Delta-Activating Mutation Causing Senescent T Cells, Lymphadenopathy, and Immunodeficiency 57 75
Imd14 57 75
P110-Delta-Activating Mutation Causing Senescent T Cells, Lymphadenopathy, and Immunodeficiency; Pasli 57
Senescent T-Cells-Lymphadenopathy-Immunodeficiency Syndrome Due to P110delta-Activating Mutation 59
P110 Delta-Activating Mutation Causing Senescent T Cells, Lymphadenopathy, and Immunodeficiency 53
Activated Pi3k-Delta Immunodeficiency Syndrome 75
Activated Pi3k-Delta Syndrome; Apds 57
Pasli Disease 53

Characteristics:

Orphanet epidemiological data:

59
activated pi3k-delta syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult,Childhood,Infancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy or early childhood


HPO:

32
immunodeficiency 14:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

OMIM 57 615513
Orphanet 59 ORPHA397596
UMLS via Orphanet 74 C3714976
ICD10 via Orphanet 34 D81.8
MeSH 44 D007153
KEGG 37 H01387
UMLS 73 C3714976

Summaries for Immunodeficiency 14

Genetics Home Reference : 25 Activated PI3K-delta syndrome is a disorder that impairs the immune system. Individuals with this condition often have low numbers of white blood cells (lymphopenia), particularly B cells and T cells. Normally, these cells recognize and attack foreign invaders, such as viruses and bacteria, to prevent infection. Beginning in childhood, people with activated PI3K-delta syndrome develop recurrent infections, particularly in the lungs, sinuses, and ears. Over time, recurrent respiratory tract infections can lead to a condition called bronchiectasis, which damages the passages leading from the windpipe to the lungs (bronchi) and can cause breathing problems. People with activated PI3K-delta syndrome may also have chronic active viral infections, commonly Epstein-Barr virus or cytomegalovirus infections.

MalaCards based summary : Immunodeficiency 14, also known as activated pi3k-delta syndrome, is related to autoimmune progesterone dermatitis and paget's disease of bone. An important gene associated with Immunodeficiency 14 is PIK3CD (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Delta), and among its related pathways/superpathways are Inositol phosphate metabolism and PI3K-Akt signaling pathway. The drugs Miconazole and Everolimus have been mentioned in the context of this disorder. Affiliated tissues include t cells, b cells and lung, and related phenotypes are splenomegaly and immunodeficiency

OMIM : 57 Immunodeficiency-14 is an autosomal dominant primary immunodeficiency characterized by onset of recurrent sinopulmonary and other infections in early childhood. Laboratory studies show defects in both B- and T-cell populations, with an inability to control infection with Epstein Barr-virus (EBV) and cytomegalovirus (CMV). Patient CD8+ T cells are skewed toward differentiation and senescence. Many patients develop lymphadenopathy, mucosal lymphoid aggregates, and/or increased serum IgM. There is also an increased susceptibility to B-cell lymphomas (summary by Lucas et al., 2014). (615513)

UniProtKB/Swiss-Prot : 75 Activated PI3K-delta syndrome: A disorder characterized by recurrent respiratory infections, progressive airway damage, lymphopenia, increased circulating transitional B cells, increased immunoglobulin M, reduced immunoglobulin G2 levels in serum, and impaired vaccine responses.

Related Diseases for Immunodeficiency 14

Graphical network of the top 20 diseases related to Immunodeficiency 14:



Diseases related to Immunodeficiency 14

Symptoms & Phenotypes for Immunodeficiency 14

Symptoms via clinical synopsis from OMIM:

57
Abdomen Spleen:
splenomegaly

Skin Nails Hair Skin:
cellulitis
abscess formation

Respiratory Lung:
bronchiectasis

Abdomen Gastrointestinal:
lymphoid nodules on mucosal surfaces

Respiratory:
recurrent respiratory infections
lymphoid nodules on respiratory mucosal surfaces

Immunology:
lymphadenopathy
recurrent sinopulmonary infections
hypogammaglobulinemia
increased serum igm (in some patients)
poor t-cell mitogen response
more
Head And Neck Ears:
recurrent ear infections

Neoplasia:
increased susceptibility to b-cell lymphoma


Clinical features from OMIM:

615513

Human phenotypes related to Immunodeficiency 14:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 32 HP:0001744
2 immunodeficiency 32 HP:0002721
3 decreased antibody level in blood 32 HP:0004313
4 cellulitis 32 HP:0100658
5 lymphadenopathy 32 HP:0002716
6 bronchiectasis 32 HP:0002110
7 recurrent sinopulmonary infections 32 HP:0005425
8 recurrent ear infections 32 HP:0410018

GenomeRNAi Phenotypes related to Immunodeficiency 14 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability after gemcitabine stimulation GR00107-A-2 8.96 PIK3CD PIK3R1
2 Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435) GR00104-A-0 8.62 PIK3R1 PTEN

Drugs & Therapeutics for Immunodeficiency 14

Drugs for Immunodeficiency 14 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
2
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177
3
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 46835353 6436030 5284616
4 Antibiotics, Antitubercular Phase 1, Phase 2
5 Anti-Infective Agents Phase 1, Phase 2
6 Immunosuppressive Agents Phase 1, Phase 2
7 Immunologic Factors Phase 1, Phase 2
8 Anti-Bacterial Agents Phase 1, Phase 2
9 Antifungal Agents Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Safety, Pharmacokinetic (PK) and Pharmacodynamic (PD) Study of Repeat Doses of Inhaled GSK2269557 in Patients With APDS/PASLI Recruiting NCT02593539 Phase 2 GSK2269557 DPI 500 mcg
2 Rapamycin Treatment for Activated Phosphoinositide 3-Kinase δ Syndrome Recruiting NCT03383380 Phase 1, Phase 2 Rapamycin

Search NIH Clinical Center for Immunodeficiency 14

Genetic Tests for Immunodeficiency 14

Genetic tests related to Immunodeficiency 14:

# Genetic test Affiliating Genes
1 Immunodeficiency 14 29 PIK3CD

Anatomical Context for Immunodeficiency 14

MalaCards organs/tissues related to Immunodeficiency 14:

41
T Cells, B Cells, Lung, Bone

Publications for Immunodeficiency 14

Articles related to Immunodeficiency 14:

# Title Authors Year
1
Long-term follow-up of an activated PI3K-δ syndrome 2 in patient presenting with an agammaglobulinemia phenotype. ( 30081089 )
2018
2
Immunodeficiency-Associated Lymphoid Hyperplasia As a Cause of Intussusception in a Case of Activated PI3K-δ Syndrome. ( 28469999 )
2017
3
Hematopoietic stem cell transplant in patients with activated PI3K delta syndrome. ( 27847301 )
2017
4
Mutations in the adaptor-binding domain and associated linker region of p110δ cause Activated PI3K-δ Syndrome 1 (APDS1). ( 28428270 )
2017
5
Persistent Impairment of T-Cell Regeneration in a Patient with Activated PI3K δ Syndrome. ( 28432485 )
2017

Variations for Immunodeficiency 14

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 14:

75
# Symbol AA change Variation ID SNP ID
1 PIK3CD p.Glu1021Lys VAR_070918 rs397518423

ClinVar genetic disease variations for Immunodeficiency 14:

6 (show top 50) (show all 90)
# Gene Variation Type Significance SNP ID Assembly Location
1 PIK3CD NM_005026.4(PIK3CD): c.3061G> A (p.Glu1021Lys) single nucleotide variant Pathogenic rs397518423 GRCh37 Chromosome 1, 9787030: 9787030
2 PIK3CD NM_005026.4(PIK3CD): c.3061G> A (p.Glu1021Lys) single nucleotide variant Pathogenic rs397518423 GRCh38 Chromosome 1, 9726972: 9726972
3 PIK3CD NM_005026.4(PIK3CD): c.1002C> A (p.Asn334Lys) single nucleotide variant Pathogenic rs28730670 GRCh37 Chromosome 1, 9777666: 9777666
4 PIK3CD NM_005026.4(PIK3CD): c.1002C> A (p.Asn334Lys) single nucleotide variant Pathogenic rs28730670 GRCh38 Chromosome 1, 9717608: 9717608
5 PIK3CD NM_005026.4(PIK3CD): c.1573G> A (p.Glu525Lys) single nucleotide variant Pathogenic rs587777389 GRCh37 Chromosome 1, 9780851: 9780851
6 PIK3CD NM_005026.4(PIK3CD): c.1573G> A (p.Glu525Lys) single nucleotide variant Pathogenic rs587777389 GRCh38 Chromosome 1, 9720793: 9720793
7 PIK3CD NM_005026.4(PIK3CD): c.1246T> C (p.Cys416Arg) single nucleotide variant Pathogenic rs587777390 GRCh37 Chromosome 1, 9779982: 9779982
8 PIK3CD NM_005026.4(PIK3CD): c.1246T> C (p.Cys416Arg) single nucleotide variant Pathogenic rs587777390 GRCh38 Chromosome 1, 9719924: 9719924
9 PIK3CD NM_005026.4(PIK3CD): c.1777G> C (p.Gly593Arg) single nucleotide variant Uncertain significance rs143068130 GRCh38 Chromosome 1, 9721214: 9721214
10 PIK3CD NM_005026.4(PIK3CD): c.1777G> C (p.Gly593Arg) single nucleotide variant Uncertain significance rs143068130 GRCh37 Chromosome 1, 9781272: 9781272
11 PIK3CD NM_005026.4(PIK3CD): c.935C> G (p.Ser312Cys) single nucleotide variant Benign rs61755420 GRCh37 Chromosome 1, 9777599: 9777599
12 PIK3CD NM_005026.4(PIK3CD): c.935C> G (p.Ser312Cys) single nucleotide variant Benign rs61755420 GRCh38 Chromosome 1, 9717541: 9717541
13 PIK3CD NM_005026.4(PIK3CD): c.931-9G> C single nucleotide variant Benign rs28730669 GRCh37 Chromosome 1, 9777586: 9777586
14 PIK3CD NM_005026.4(PIK3CD): c.931-9G> C single nucleotide variant Benign rs28730669 GRCh38 Chromosome 1, 9717528: 9717528
15 PIK3CD NM_005026.4(PIK3CD): c.2820T> C (p.His940=) single nucleotide variant Benign rs28730679 GRCh37 Chromosome 1, 9784435: 9784435
16 PIK3CD NM_005026.4(PIK3CD): c.2820T> C (p.His940=) single nucleotide variant Benign rs28730679 GRCh38 Chromosome 1, 9724377: 9724377
17 PIK3CD NM_005026.4(PIK3CD): c.371-3C> T single nucleotide variant Benign rs113176101 GRCh38 Chromosome 1, 9715846: 9715846
18 PIK3CD NM_005026.4(PIK3CD): c.371-3C> T single nucleotide variant Benign rs113176101 GRCh37 Chromosome 1, 9775904: 9775904
19 PIK3CD NM_005026.4(PIK3CD): c.633C> T (p.Asp211=) single nucleotide variant Likely benign rs757257476 GRCh38 Chromosome 1, 9716472: 9716472
20 PIK3CD NM_005026.4(PIK3CD): c.633C> T (p.Asp211=) single nucleotide variant Likely benign rs757257476 GRCh37 Chromosome 1, 9776530: 9776530
21 PIK3CD NM_005026.4(PIK3CD): c.765G> A (p.Pro255=) single nucleotide variant Likely benign rs928182057 GRCh38 Chromosome 1, 9716604: 9716604
22 PIK3CD NM_005026.4(PIK3CD): c.765G> A (p.Pro255=) single nucleotide variant Likely benign rs928182057 GRCh37 Chromosome 1, 9776662: 9776662
23 PIK3CD NM_005026.4(PIK3CD): c.1366A> G (p.Thr456Ala) single nucleotide variant Benign rs28730674 GRCh38 Chromosome 1, 9720138: 9720138
24 PIK3CD NM_005026.4(PIK3CD): c.1366A> G (p.Thr456Ala) single nucleotide variant Benign rs28730674 GRCh37 Chromosome 1, 9780196: 9780196
25 PIK3CD NM_005026.4(PIK3CD): c.1953C> T (p.Leu651=) single nucleotide variant Benign rs140468930 GRCh38 Chromosome 1, 9721585: 9721585
26 PIK3CD NM_005026.4(PIK3CD): c.1953C> T (p.Leu651=) single nucleotide variant Benign rs140468930 GRCh37 Chromosome 1, 9781643: 9781643
27 PIK3CD NM_005026.4(PIK3CD): c.2319C> T (p.Ser773=) single nucleotide variant Benign rs139848768 GRCh38 Chromosome 1, 9722328: 9722328
28 PIK3CD NM_005026.4(PIK3CD): c.2319C> T (p.Ser773=) single nucleotide variant Benign rs139848768 GRCh37 Chromosome 1, 9782386: 9782386
29 PIK3CD NM_005026.4(PIK3CD): c.2698A> G (p.Met900Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 9724072: 9724072
30 PIK3CD NM_005026.4(PIK3CD): c.2698A> G (p.Met900Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 9784130: 9784130
31 PIK3CD NM_005026.4(PIK3CD): c.2919C> T (p.Leu973=) single nucleotide variant Benign rs143168081 GRCh38 Chromosome 1, 9724858: 9724858
32 PIK3CD NM_005026.4(PIK3CD): c.2919C> T (p.Leu973=) single nucleotide variant Benign rs143168081 GRCh37 Chromosome 1, 9784916: 9784916
33 PIK3CD NM_005026.4(PIK3CD): c.886G> A (p.Val296Ile) single nucleotide variant Benign rs28730668 GRCh37 Chromosome 1, 9777122: 9777122
34 PIK3CD NM_005026.4(PIK3CD): c.1005C> T (p.Ala335=) single nucleotide variant Benign rs28730671 GRCh38 Chromosome 1, 9717611: 9717611
35 PIK3CD NM_005026.4(PIK3CD): c.1005C> T (p.Ala335=) single nucleotide variant Benign rs28730671 GRCh37 Chromosome 1, 9777669: 9777669
36 PIK3CD NM_005026.4(PIK3CD): c.1809G> C (p.Leu603=) single nucleotide variant Benign rs151278626 GRCh38 Chromosome 1, 9721246: 9721246
37 PIK3CD NM_005026.4(PIK3CD): c.1809G> C (p.Leu603=) single nucleotide variant Benign rs151278626 GRCh37 Chromosome 1, 9781304: 9781304
38 PIK3CD NM_005026.4(PIK3CD): c.436T> A (p.Phe146Ile) single nucleotide variant Benign rs142285826 GRCh38 Chromosome 1, 9715914: 9715914
39 PIK3CD NM_005026.4(PIK3CD): c.436T> A (p.Phe146Ile) single nucleotide variant Benign rs142285826 GRCh37 Chromosome 1, 9775972: 9775972
40 PIK3CD NM_005026.4(PIK3CD): c.678A> G (p.Thr226=) single nucleotide variant Benign rs2230735 GRCh38 Chromosome 1, 9716517: 9716517
41 PIK3CD NM_005026.4(PIK3CD): c.678A> G (p.Thr226=) single nucleotide variant Benign rs2230735 GRCh37 Chromosome 1, 9776575: 9776575
42 PIK3CD NM_005026.4(PIK3CD): c.708G> A (p.Pro236=) single nucleotide variant Benign rs145697393 GRCh38 Chromosome 1, 9716547: 9716547
43 PIK3CD NM_005026.4(PIK3CD): c.708G> A (p.Pro236=) single nucleotide variant Benign rs145697393 GRCh37 Chromosome 1, 9776605: 9776605
44 PIK3CD NM_005026.4(PIK3CD): c.886G> A (p.Val296Ile) single nucleotide variant Benign rs28730668 GRCh38 Chromosome 1, 9717064: 9717064
45 PIK3CD NM_005026.4(PIK3CD): c.3093G> C (p.Val1031=) single nucleotide variant Benign rs149090253 GRCh37 Chromosome 1, 9787062: 9787062
46 PIK3CD NM_005026.4(PIK3CD): c.3093G> C (p.Val1031=) single nucleotide variant Benign rs149090253 GRCh38 Chromosome 1, 9727004: 9727004
47 PIK3CD NM_005026.4(PIK3CD): c.371-5C> T single nucleotide variant Benign rs149617980 GRCh38 Chromosome 1, 9715844: 9715844
48 PIK3CD NM_005026.4(PIK3CD): c.371-5C> T single nucleotide variant Benign rs149617980 GRCh37 Chromosome 1, 9775902: 9775902
49 PIK3CD NM_005026.4(PIK3CD): c.1002C> T (p.Asn334=) single nucleotide variant Benign rs28730670 GRCh38 Chromosome 1, 9717608: 9717608
50 PIK3CD NM_005026.4(PIK3CD): c.1002C> T (p.Asn334=) single nucleotide variant Benign rs28730670 GRCh37 Chromosome 1, 9777666: 9777666

Expression for Immunodeficiency 14

Search GEO for disease gene expression data for Immunodeficiency 14.

Pathways for Immunodeficiency 14

Pathways related to Immunodeficiency 14 according to KEGG:

37
# Name Kegg Source Accession
1 Inositol phosphate metabolism hsa00562
2 PI3K-Akt signaling pathway hsa04151
3 T cell receptor signaling pathway hsa04660
4 B cell receptor signaling pathway hsa04662
5 Fc epsilon RI signaling pathway hsa04664
6 Fc gamma R-mediated phagocytosis hsa04666
7 Leukocyte transendothelial migration hsa04670

Pathways related to Immunodeficiency 14 according to GeneCards Suite gene sharing:

(show top 50) (show all 93)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.12 PIK3CD PIK3R1 PTEN
2
Show member pathways
13.07 PIK3CD PIK3R1 PTEN
3
Show member pathways
12.82 PIK3CD PIK3R1 PTEN
4
Show member pathways
12.76 PIK3CD PIK3R1 PTEN
5
Show member pathways
12.71 PIK3CD PIK3R1 PTEN
6
Show member pathways
12.67 PIK3CD PIK3R1 PTEN
7
Show member pathways
12.63 PIK3CD PIK3R1 PTEN
8
Show member pathways
12.62 PIK3CD PIK3R1 PTEN
9
Show member pathways
12.59 PIK3CD PIK3R1 PTEN
10
Show member pathways
12.59 PIK3CD PIK3R1 PTEN
11
Show member pathways
12.58 PIK3CD PIK3R1 PTEN
12 12.56 PIK3CD PIK3R1 PTEN
13
Show member pathways
12.5 PIK3CD PIK3R1 PTEN
14
Show member pathways
12.49 PIK3CD PIK3R1 PTEN
15
Show member pathways
12.48 PIK3CD PIK3R1 PTEN
16
Show member pathways
12.45 PIK3CD PIK3R1 PTEN
17
Show member pathways
12.43 PIK3CD PIK3R1 PTEN
18
Show member pathways
12.39 PIK3CD PIK3R1 PTEN
19
Show member pathways
12.38 PIK3CD PIK3R1 PTEN
20
Show member pathways
12.31 PIK3CD PIK3R1 PTEN
21
Show member pathways
12.25 PIK3CD PIK3R1 PTEN
22
Show member pathways
12.21 PIK3CD PIK3R1 PTEN
23
Show member pathways
12.2 PIK3CD PIK3R1 PTEN
24
Show member pathways
12.12 PIK3CD PIK3R1
25
Show member pathways
12.12 PIK3R1 PTEN
26
Show member pathways
12.11 PIK3CD PIK3R1 PTEN
27
Show member pathways
12.1 PIK3R1 PTEN
28
Show member pathways
12.09 PIK3CD PIK3R1
29
Show member pathways
12.09 PIK3CD PIK3R1 PTEN
30
Show member pathways
12.08 PIK3CD PIK3R1
31
Show member pathways
12.07 PIK3CD PIK3R1
32 12.07 PIK3CD PIK3R1
33 12.07 PIK3CD PIK3R1
34 12.06 PIK3CD PIK3R1
35
Show member pathways
12.01 PIK3CD PTEN
36 12 PIK3CD PIK3R1
37
Show member pathways
11.99 PIK3CD PIK3R1
38
Show member pathways
11.98 PIK3CD PIK3R1
39 11.97 PIK3R1 PTEN
40
Show member pathways
11.96 PIK3CD PIK3R1
41
Show member pathways
11.95 PIK3CD PIK3R1
42
Show member pathways
11.95 PIK3CD PIK3R1 PTEN
43
Show member pathways
11.93 PIK3CD PIK3R1
44
Show member pathways
11.93 PIK3CD PIK3R1
45
Show member pathways
11.92 PIK3CD PIK3R1 PTEN
46
Show member pathways
11.91 PIK3CD PIK3R1
47
Show member pathways
11.91 PIK3R1 PTEN
48 11.89 PIK3CD PIK3R1
49 11.89 PIK3CD PIK3R1
50
Show member pathways
11.88 PIK3CD PIK3R1 PTEN

GO Terms for Immunodeficiency 14

Cellular components related to Immunodeficiency 14 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol 3-kinase complex GO:0005942 8.62 PIK3CD PIK3R1

Biological processes related to Immunodeficiency 14 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 axon guidance GO:0007411 9.49 PIK3CD PIK3R1
2 cell migration GO:0016477 9.48 PIK3CD PTEN
3 protein stabilization GO:0050821 9.46 PIK3R1 PTEN
4 positive regulation of protein kinase B signaling GO:0051897 9.43 PIK3CD PIK3R1
5 T cell receptor signaling pathway GO:0050852 9.4 PIK3CD PIK3R1
6 phosphatidylinositol phosphorylation GO:0046854 9.37 PIK3CD PIK3R1
7 platelet activation GO:0030168 9.32 PIK3CD PIK3R1
8 cellular response to insulin stimulus GO:0032869 9.26 PIK3R1 PTEN
9 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.16 PIK3CD PIK3R1
10 phosphatidylinositol-mediated signaling GO:0048015 8.96 PIK3CD PIK3R1
11 phosphatidylinositol 3-kinase signaling GO:0014065 8.62 PIK3CD PIK3R1

Molecular functions related to Immunodeficiency 14 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 8.96 PIK3CD PIK3R1
2 1-phosphatidylinositol-3-kinase activity GO:0016303 8.62 PIK3CD PIK3R1

Sources for Immunodeficiency 14

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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