ADA
MCID: ADN001
MIFTS: 45

Adenosine Deaminase Deficiency (ADA) malady

Categories: Rare diseases, Immune diseases, Genetic diseases

Aliases & Classifications for Adenosine Deaminase Deficiency

Aliases & Descriptions for Adenosine Deaminase Deficiency:

Name: Adenosine Deaminase Deficiency 12 23 50 24 25 52 14 38 69
Ada Deficiency 23 50 24 25
Ada-Scid 23 50 25
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency 50 25
Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency 50 69
Adenosine Deaminase Deficient Severe Combined Immunodeficiency 50 25
Severe Combined Immunodeficiency Due to Ada Deficiency 50 25
Scid Due to Ada Deficiency 50 25
Adenosine Deaminase-Deficient Severe Combined Immunodeficiency Disease 24
Ada-Deficient Severe Combined Immunodeficiency Disease 24
Adenosine Deaminase 13
Ada 12

Classifications:



External Ids:

Disease Ontology 12 DOID:5810
ICD10 33 D81.3
NCIt 47 C3962
UMLS 69 C0268124

Summaries for Adenosine Deaminase Deficiency

NIH Rare Diseases : 50 adenosine deaminase deficiency (ada) is an inherited condition that affects the immune system and typically leads to severe combined immunodeficiency (scid). people with scid have a reduced or absent immune response which leaves them vulnerable to frequent bacterial, viral, and fungal infections. most people affected by ada develop symptoms of the condition before 6 months of age. however, approximately 10-15% of affected people have a "delayed" onset of symptoms; diagnosis of these cases, which are often less severe, typically takes place later in childhood (often between age 1 and 10) or even into adulthood. signs and symptoms of ada include pneumonia, chronic diarrhea, widespread skin rashes, slowed growth and/or developmental delay. ada is caused by changes (mutations) in the ada gene and is inherited in an autosomal recessive manner. the most effective treatment is transplantation of blood-forming stem cells from the bone marrow of a healthy person.[8061 last updated: 1/4/2015

MalaCards based summary : Adenosine Deaminase Deficiency, also known as ada deficiency, is related to adenosine deaminase 2 deficiency and delayed-/late-onset adenosine deaminase deficiency. An important gene associated with Adenosine Deaminase Deficiency is ADA (Adenosine Deaminase), and among its related pathways/superpathways are Metabolism and Purine metabolism (KEGG). The drugs Adenosine and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include bone, t cells and b cells, and related phenotypes are mortality/aging and respiratory system

Disease Ontology : 12 A severe combined immunodeficiency that is caused by a defective enzyme, adenosine deaminase (ADA), necessary for the breakdown of purines. Lack of ADA causes accumulation of dATP.

Genetics Home Reference : 25 Adenosine deaminase (ADA) deficiency is an inherited disorder that damages the immune system and causes severe combined immunodeficiency (SCID). People with SCID lack virtually all immune protection from bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. These infections are often caused by "opportunistic" organisms that ordinarily do not cause illness in people with a normal immune system.

Wikipedia : 71 Adenosine deaminase deficiency (also called ADA deficiency or ADA-SCID) is an autosomal... more...

GeneReviews: NBK1483

Related Diseases for Adenosine Deaminase Deficiency

Diseases related to Adenosine Deaminase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
id Related Disease Score Top Affiliating Genes
1 adenosine deaminase 2 deficiency 12.4
2 delayed-/late-onset adenosine deaminase deficiency 12.1
3 severe combined immunodeficiency due to ada deficiency 12.0
4 severe combined immunodeficiency, x-linked 11.1
5 severe combined immunodeficiency 10.6
6 severe combined immune deficiency 10.2
7 epileptic encephalopathy, early infantile, 8 10.1 ADA PNP
8 noonan syndrome 9 10.1 AHCY PNP
9 ectopic thymus 10.1 ADA IL2RG
10 spinocerebellar ataxia, autosomal recessive 6 10.1 ADK AHCY
11 hereditary sensory neuropathy 10.1 ADK AHCY
12 dyslexia 2 10.1 ITPA PNP
13 opitz-kaveggia syndrome 10.1 ADA IL2RG
14 single ventricular heart 10.0 ADA IL2RG
15 childhood choriocarcinoma of the testis 10.0 ADA IL2RG
16 hematopoietic stem cell transplantation 10.0
17 hepatitis 10.0
18 lymphoma 10.0
19 gaucher disease, type ii 9.9 ADA GBA
20 hypothalamic disease 9.9 ADA GBA
21 cockayne syndrome, type b 9.9 ADA IL2RG
22 omenn syndrome 9.9
23 dermatofibrosarcoma protuberans 9.9
24 lung disease 9.9
25 osteoporosis 9.7
26 ornithine transcarbamylase deficiency 9.7
27 duchenne muscular dystrophy 9.7
28 chronic granulomatous disease 9.7
29 common variable immunodeficiency 9.7
30 liver disease 9.7
31 myelofibrosis 9.7
32 neutropenia 9.7
33 t cell deficiency 9.7
34 pulmonary alveolar proteinosis 9.7
35 hypothyroidism 9.7
36 dermatitis 9.7
37 primary hyperoxaluria 9.7
38 food allergy 9.7
39 atopic dermatitis 9.7
40 cerebritis 9.7
41 cerebral lymphoma 9.7
42 acute disseminated encephalomyelitis 9.7
43 inherited metabolic disorder 9.7
44 thyroiditis 9.7
45 muscular dystrophy 9.7
46 inosine triphosphate pyrophosphohydrolase deficiency 9.7
47 pediatric lymphoma 9.0 ADA ADK AHCY GBA IL2RG ITPA

Graphical network of the top 20 diseases related to Adenosine Deaminase Deficiency:



Diseases related to Adenosine Deaminase Deficiency

Symptoms & Phenotypes for Adenosine Deaminase Deficiency

MGI Mouse Phenotypes related to Adenosine Deaminase Deficiency:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.43 ADA ADK AHCY GBA IL2RG ITPA
2 respiratory system MP:0005388 9.02 ADA ADK GBA IL2RG ITPA

Drugs & Therapeutics for Adenosine Deaminase Deficiency

Drugs for Adenosine Deaminase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 18)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Adenosine Approved, Investigational Phase 3,Phase 1,Phase 2 58-61-7 60961
2
Busulfan Approved, Investigational Phase 2,Phase 1 55-98-1 2478
3 Analgesics Phase 1, Phase 2
4 Anti-Arrhythmia Agents Phase 1, Phase 2
5 Neurotransmitter Agents Phase 1, Phase 2
6 Peripheral Nervous System Agents Phase 1, Phase 2
7 Vasodilator Agents Phase 1, Phase 2
8 Anesthetics Phase 1, Phase 2
9
Zidovudine Approved Phase 1 30516-87-1 35370
10 Antibodies
11 Antibodies, Antiphospholipid
12 Antithrombin III
13 Antithrombins
14 Factor VIII
15 Immunoglobulins
16 Protein C
17 protein S
18 Thrombin

Interventional clinical trials:

(show all 22)
id Name Status NCT ID Phase
1 EZN-2279 in Patients With ADA-SCID Recruiting NCT01420627 Phase 3
2 Gene Therapy ADA Deficiency Completed NCT01279720 Phase 1, Phase 2
3 Gene Therapy for ADA-SCID Completed NCT00599781 Phase 1, Phase 2
4 MND-ADA Transduction of CD34+ Cells From Children With ADA-SCID Completed NCT00794508 Phase 2
5 Autologous Cryopreserved CD34+ Hematopoietic Cells Transduced With EFS-ADA Lentivirus for ADA SCID Recruiting NCT02999984 Phase 1, Phase 2
6 Lentiviral Gene Therapy for Adenosine Deaminase (ADA) Deficiency Recruiting NCT01380990 Phase 1, Phase 2
7 ADA Gene Transfer Into Hematopoietic Stem/Progenitor Cells for the Treatment of ADA-SCID Active, not recruiting NCT00598481 Phase 2
8 Autologous Transplant of EFS-ADA Modified Bone Marrow Cells for ADA-Deficient Severe Combined Immunodeficiency (SCID) Active, not recruiting NCT01852071 Phase 1, Phase 2
9 Imagery Rescripting in the Treatment of Post Traumatic Stress Disorder (PTSD) Following Early Chronic Interpersonal Trauma Active, not recruiting NCT01464892 Phase 2
10 Treatment of SCID Due to ADA Deficiency With Autologous Transplantation of Cord Blood or Hematopoietic CD 34+ Cells After Addition of a Normal Human ADA cDNA by the EFS-ADA Lentiviral Vector Completed NCT02022696 Phase 1
11 Gene Transfer Therapy for Severe Combined Immunodeficieny Disease (SCID) Due to Adenosine Deaminase (ADA) Deficiency Completed NCT00018018 Phase 1
12 Gene Transfer Therapy for Severe Combined Immunodeficieny Disease (SCID) Due to Adenosine Deaminase (ADA) Deficiency: A Natural History Study Completed NCT00001255
13 Influences on Female Adolescents' Decisions Regarding Testing for Carrier Status of XSCID Completed NCT00006335
14 Participation in a Research Registry for Immune Disorders Recruiting NCT01953016
15 Natural History Study of SCID Disorders Recruiting NCT01186913
16 Patients Treated for SCID (1968-2010) Recruiting NCT01346150
17 The Role of Bacteria and Genetic Variations in Cystic Fibrosis Recruiting NCT00043225
18 Idiopathic CD4 Lymphocytopenia Recruiting NCT02113930
19 Molecular and Clinical Studies of Primary Immunodeficiency Diseases Enrolling by invitation NCT00006319
20 Emergency Use of Adoptive Immunotherapy With CMV-Specific T Cells After Donor Bone Marrow Transplant of an Infant With Immunodeficiency Syndrome and CMV Infection No longer available NCT00547235
21 Comparative Prevalence of Psychiatric Manifestations in Purely Obstetrical Antiphospholipid Syndrome Terminated NCT01649479
22 Quality of Life and Neuropsychiatric Sequelae in Patients Treated With Gene Therapy for ADA-SCID and in Their Parents Withdrawn NCT01182857

Search NIH Clinical Center for Adenosine Deaminase Deficiency

Genetic Tests for Adenosine Deaminase Deficiency

Genetic tests related to Adenosine Deaminase Deficiency:

id Genetic test Affiliating Genes
1 Adenosine Deaminase Deficiency 24 ADA
2 Adenosine Deaminase-Deficient Severe Combined Immunodeficiency Disease (scid) 24

Anatomical Context for Adenosine Deaminase Deficiency

MalaCards organs/tissues related to Adenosine Deaminase Deficiency:

39
Bone, T Cells, B Cells, Bone Marrow, Skin, Nk Cells, Testes

Publications for Adenosine Deaminase Deficiency

Articles related to Adenosine Deaminase Deficiency:

(show top 50) (show all 270)
id Title Authors Year
1
Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency. ( 27129325 )
2016
2
Adenosine Deaminase Deficiency with a Novel Gene Mutation. ( 27086606 )
2016
3
Erratum to: Adenosine Deaminase Deficient Severe Combined Immunodeficiency Presenting as Atypical Haemolytic Uraemic Syndrome. ( 26951489 )
2016
4
Medallion-Like Dermal Dendrocytic Hamartoma, Dermatofibrosarcoma Protuberans, and Adenosine Deaminase-Deficient Severe Combined Immunodeficiency. ( 27176810 )
2016
5
Adenosine Deaminase Deficiency - More Than Just an Immunodeficiency. ( 27579027 )
2016
6
Adenosine Deaminase Deficient Severe Combined Immunodeficiency Presenting as Atypical Haemolytic Uraemic Syndrome. ( 25875700 )
2015
7
Outcomes in Two Japanese Adenosine Deaminase-Deficiency Patients Treated by Stem Cell Gene Therapy with No Cytoreductive Conditioning. ( 25875699 )
2015
8
Impulse oscillometry identifies peripheral airway dysfunction in children with adenosine deaminase deficiency. ( 26682746 )
2015
9
Severe phenotype of severe combined immunodeficiency caused by adenosine deaminase deficiency in a patient with a homozygous mutation due to uniparental disomy. ( 23260757 )
2013
10
Preclinical Demonstration of Lentiviral Vector-mediated Correction of Immunological and Metabolic Abnormalities in Models of Adenosine Deaminase Deficiency. ( 24256635 )
2013
11
Genetic and biochemical consequences of adenosine deaminase deficiency in humans. ( 24772956 )
2013
12
Neutropenia and myeloid dysplasia in a patient with delayed-onset adenosine deaminase deficiency. ( 23335557 )
2013
13
Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency. ( 23280131 )
2013
14
Successful bone marrow transplantation with reduced intensity conditioning in a patient with delayed-onset adenosine deaminase deficiency. ( 22805442 )
2013
15
Gene therapy for adenosine deaminase-deficient severe combined immune deficiency: clinical comparison of retroviral vectors and treatment plans. ( 22968453 )
2012
16
Severe combined immunodeficiency due to adenosine deaminase deficiency. ( 22764473 )
2012
17
Delayed onset adenosine deaminase deficiency associated with acute disseminated encephalomyelitis. ( 22447032 )
2012
18
Non-infectious lung disease in patients with adenosine deaminase deficient severe combined immunodeficiency. ( 22350222 )
2012
19
Delayed-onset adenosine deaminase deficiency: strategies for an early diagnosis. ( 22578972 )
2012
20
Adenosine deaminase deficiency: unanticipated benefits from the study of a rare immunodeficiency. ( 22262755 )
2012
21
Pillars article: Adenosine-deaminase deficiency in two patients with severely impaired cellular immunity. The Lancet. 1972. 300: 1067-1069. ( 22262756 )
2012
22
Defective B cell tolerance in adenosine deaminase deficiency is corrected by gene therapy. ( 22622038 )
2012
23
Autoimmune dysregulation and purine metabolism in adenosine deaminase deficiency. ( 22969765 )
2012
24
Outcome of hematopoietic stem cell transplantation for adenosine deaminase-deficient severe combined immunodeficiency. ( 22791287 )
2012
25
Pulmonary alveolar proteinosis in patients with adenosine deaminase deficiency. ( 22409989 )
2012
26
Multicentric dermatofibrosarcoma protuberans in patients with adenosine deaminase-deficient severe combined immune deficiency. ( 22153773 )
2012
27
Atypical Omenn Syndrome due to Adenosine Deaminase Deficiency. ( 25954555 )
2012
28
Gene therapy for severe combined immunodeficiency due to adenosine deaminase deficiency. ( 22348551 )
2012
29
Recombinant adeno-associated virus-mediated gene transfer for the potential therapy of adenosine deaminase-deficient severe combined immune deficiency. ( 21142972 )
2011
30
Purine metabolism, immune reconstitution, and abdominal adipose tumor after gene therapy for adenosine deaminase deficiency. ( 21531016 )
2011
31
Hematopoietic stem cell gene therapy for adenosine deaminase-deficient severe combined immunodeficiency leads to long-term immunological recovery and metabolic correction. ( 21865538 )
2011
32
Hyperbilirubinemia and rapid fatal hepatic failure in severe combined immunodeficiency caused by adenosine deaminase deficiency (ADA-SCID). ( 21271505 )
2011
33
Myeloid dysplasia and bone marrow hypocellularity in adenosine deaminase-deficient severe combined immune deficiency. ( 21725047 )
2011
34
Update on gene therapy for adenosine deaminase-deficient severe combined immunodeficiency. ( 20966749 )
2010
35
Bone marrow transplantation and alternatives for adenosine deaminase deficiency. ( 20493398 )
2010
36
Late-onset adenosine deaminase deficiency presenting with Heck's disease. ( 20039061 )
2010
37
The different extent of B and T cell immune reconstitution after hematopoietic stem cell transplantation and enzyme replacement therapies in SCID patients with adenosine deaminase deficiency. ( 21057082 )
2010
38
Gene therapy for adenosine deaminase deficiency. ( 20493400 )
2010
39
Polyethylene glycol-modified adenosine deaminase improved lung disease but not liver disease in partial adenosine deaminase deficiency. ( 19665771 )
2009
40
Hematopoietic stem cell gene therapy for adenosine deaminase deficient-SCID. ( 19224139 )
2009
41
Progress in genetic therapy for severe combined immunodeficiency associated with adenosine deaminase deficiency. ( 19337228 )
2009
42
Gene therapy for immunodeficiency due to adenosine deaminase deficiency. ( 19179314 )
2009
43
Development of gene therapy: potential in severe combined immunodeficiency due to adenosine deaminase deficiency. ( 24198507 )
2009
44
[Adenosine deaminase deficiency associated severe combined immunodeficiency with disseminated varicella infection after vaccination: a case report]. ( 19099832 )
2008
45
Adenosine deaminase deficiency can present with features of Omenn syndrome. ( 18243287 )
2008
46
Restoration of adenosine deaminase-deficient human thymocyte development in vitro by inhibition of deoxynucleoside kinases. ( 19018008 )
2008
47
Neurologic abnormalities in patients with adenosine deaminase deficiency. ( 17765813 )
2007
48
Autoimmune thyroiditis and acquired hypothyroidism in an infant with severe combined immunodeficiency due to adenosine deaminase deficiency. ( 17614781 )
2007
49
Patients with adenosine deaminase deficiency surviving after hematopoietic stem cell transplantation are at high risk of CNS complications. ( 17185467 )
2007
50
Management options for adenosine deaminase deficiency; proceedings of the EBMT satellite workshop (Hamburg, March 2006). ( 17300989 )
2007

Variations for Adenosine Deaminase Deficiency

ClinVar genetic disease variations for Adenosine Deaminase Deficiency:

6 (show all 25)
id Gene Variation Type Significance SNP ID Assembly Location
1 ADA ADA, 3.25-KB DEL, ALU-RELATED deletion Pathogenic
2 ADA NM_000022.3(ADA): c.301C> T (p.Arg101Trp) single nucleotide variant Pathogenic rs121908717 GRCh37 Chromosome 20, 43255158: 43255158
3 ADA NM_000022.3(ADA): c.302G> A (p.Arg101Gln) single nucleotide variant Pathogenic rs121908714 GRCh37 Chromosome 20, 43255157: 43255157
4 ADA NM_000022.3(ADA): c.632G> A (p.Arg211His) single nucleotide variant Pathogenic rs121908716 GRCh37 Chromosome 20, 43251694: 43251694
5 ADA NM_000022.3(ADA): c.911T> G (p.Leu304Arg) single nucleotide variant Pathogenic rs199422327 GRCh37 Chromosome 20, 43249723: 43249723
6 ADA NM_000022.3(ADA): c.890C> A (p.Pro297Gln) single nucleotide variant Pathogenic rs121908718 GRCh37 Chromosome 20, 43249744: 43249744
7 ADA NM_000022.3(ADA): c.446G> A (p.Arg149Gln) single nucleotide variant Pathogenic rs121908737 GRCh37 Chromosome 20, 43254242: 43254242
8 ADA NM_000022.3(ADA): c.821C> T (p.Pro274Leu) single nucleotide variant Pathogenic rs121908738 GRCh37 Chromosome 20, 43251253: 43251253
9 ADA NM_000022.3(ADA): c.320T> C (p.Leu107Pro) single nucleotide variant Pathogenic rs121908739 GRCh37 Chromosome 20, 43255139: 43255139
10 ADA NM_000022.3(ADA): c.631C> T (p.Arg211Cys) single nucleotide variant Pathogenic rs121908740 GRCh37 Chromosome 20, 43251695: 43251695
11 ADA NM_000022.3(ADA): c.643G> A (p.Ala215Thr) single nucleotide variant Pathogenic rs114025668 GRCh37 Chromosome 20, 43251683: 43251683
12 ADA NM_000022.3(ADA): c.646G> A (p.Gly216Arg) single nucleotide variant Pathogenic rs121908723 GRCh37 Chromosome 20, 43251680: 43251680
13 ADA NM_000022.3(ADA): c.219-2A> G single nucleotide variant Pathogenic rs387906267 GRCh37 Chromosome 20, 43255242: 43255242
14 ADA NM_000022.3(ADA): c.466C> T (p.Arg156Cys) single nucleotide variant Pathogenic rs121908735 GRCh37 Chromosome 20, 43254222: 43254222
15 ADA NM_000022.3(ADA): c.872C> T (p.Ser291Leu) single nucleotide variant Pathogenic rs121908721 GRCh37 Chromosome 20, 43249762: 43249762
16 ADA ADA, IVS2DS, G-A, +1 single nucleotide variant Pathogenic
17 ADA LRG_16: g.34081_34084delCAGAins17 indel Pathogenic GRCh37 Chromosome 20, 43251293: 43251296
18 ADA NM_000022.3(ADA): c.33+1G> C single nucleotide variant Pathogenic rs587776534 GRCh37 Chromosome 20, 43280215: 43280215
19 ADA NM_000022.3(ADA): c.221G> T (p.Gly74Val) single nucleotide variant Pathogenic rs199422328 GRCh37 Chromosome 20, 43255238: 43255238
20 ADA ADA, IVS5DS, G-A, +1 single nucleotide variant Pathogenic
21 ADA NM_000022.3(ADA): c.454C> A (p.Leu152Met) single nucleotide variant Pathogenic rs121908728 GRCh37 Chromosome 20, 43254234: 43254234
22 ADA NM_000022.3(ADA): c.698C> T (p.Thr233Ile) single nucleotide variant Pathogenic rs121908729 GRCh37 Chromosome 20, 43251552: 43251552
23 ADA NM_000022.3(ADA): c.467G> A (p.Arg156His) single nucleotide variant Pathogenic rs121908722 GRCh37 Chromosome 20, 43254221: 43254221
24 ADA NM_000022.3(ADA): c.43C> G (p.His15Asp) single nucleotide variant Pathogenic rs121908725 GRCh37 Chromosome 20, 43264920: 43264920
25 ADA NM_000022.3(ADA): c.956_960delAAGAG (p.Glu319Glyfs) deletion Pathogenic/Likely pathogenic rs771266745 GRCh37 Chromosome 20, 43249674: 43249678

Expression for Adenosine Deaminase Deficiency

Search GEO for disease gene expression data for Adenosine Deaminase Deficiency.

Pathways for Adenosine Deaminase Deficiency

Pathways related to Adenosine Deaminase Deficiency according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.48 ADA ADK AHCY GBA ITPA PNP
2
Show member pathways
11.83 ADA ADK ITPA PNP
3
Show member pathways
11.44 ADA ADK PNP
4
Show member pathways
11.27 ADA ADK ITPA PNP
5 10.89 ADA IL2RG
6 10.69 ADK ITPA

GO Terms for Adenosine Deaminase Deficiency

Biological processes related to Adenosine Deaminase Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 negative regulation of inflammatory response GO:0050728 9.32 ADA GBA
2 nucleotide metabolic process GO:0009117 9.26 ADA ITPA
3 purine nucleotide catabolic process GO:0006195 9.16 ITPA PNP
4 positive regulation of alpha-beta T cell differentiation GO:0046638 8.96 ADA PNP
5 purine-containing compound salvage GO:0043101 8.8 ADA ADK PNP

Sources for Adenosine Deaminase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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