JMML
MCID: JVN004
MIFTS: 62

Juvenile Myelomonocytic Leukemia (JMML) malady

Cancer diseases, Blood diseases categories

Summaries for Juvenile Myelomonocytic Leukemia

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Juvenile myelomonocytic leukemia (JMML) is a serious chronic leukemia (cancer of the blood) that affects... more...

MalaCards: Juvenile Myelomonocytic Leukemia, also known as leukemia, juvenile myelomonocytic, is related to leukemia and acute leukemia. An important gene associated with Juvenile Myelomonocytic Leukemia is NF1 (neurofibromin 1), and among its related pathways are IL-3 Signaling Pathway and pilocytic astrocytoma. The compounds phosphatidylinositol and rapamycin have been mentioned in the context of this disorder. Affiliated tissues include myeloid, bone and bone marrow, and related mouse phenotypes are pigmentation and limbs/digits/tail.

Description from OMIM:46 607785

Aliases & Classifications for Juvenile Myelomonocytic Leukemia

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8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 22GTR, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 30LifeMap Discovery™, 60UMLS, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer diseases
Anatomical: Blood diseases


Characteristics (Orphanet epidemiological data):

48
juvenile myelomonocytic leukemia:
Prevalence: 1-9/1000000; Age of onset: Adolescence / Young adulthood


Aliases & Descriptions:

juvenile myelomonocytic leukemia 8 42 10 44 48 30 60
leukemia, juvenile myelomonocytic 9 42 22 46
juvenile chronic myelomonocytic leukemia 48
jmml 42


External Ids:

Disease Ontology8 DOID:0050458
OMIM46 607785
MeSH34 D054429
MESH via Orphanet35 D054429
ICD10 via Orphanet26 C93.3
SNOMED-CT via Orphanet57 128832006, 277587001, 445227008
UMLS via Orphanet61 C0349639
ICD1025 C93.3

Related Diseases for Juvenile Myelomonocytic Leukemia

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17GeneCards, 18GeneDecks
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Diseases in the Juvenile Myelomonocytic Leukemia family:

Acute Myelomonocytic Leukemia Chronic Myelomonocytic Leukemia

Diseases related to Juvenile Myelomonocytic Leukemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 69)
idRelated DiseaseScoreTop Affiliating Genes
1leukemia31.9PTPN11, KRAS, NF1, NRAS
2acute leukemia31.0PTPN11, KRAS, NF1
3noonan syndrome30.9NRAS, NF1, KRAS, PTPN11
4neurofibromatosis30.8NF1, KRAS, PTPN11
5myeloid leukemia30.7PTPN11, NF1
6sarcoma30.2NRAS, NF1, KRAS
7chronic myeloid leukemia30.2PTPN11, KRAS, NF1, NRAS
8childhood leukemia10.6
9noonan-like syndrome disorder with or without juvenile myelomonocytic leukemia10.6
10lymphoblastic leukemia10.5
11hemophagocytic lymphohistiocytosis10.4
12juvenile xanthogranuloma10.4
13neonatal leukemia10.4
14t-cell leukemia10.4
15acute myeloid leukemia10.3
16acute lymphocytic leukemia10.3
17respiratory failure10.3
18graft versus host disease10.2
19bronchiolitis obliterans10.2
20bronchiolitis10.2
21diphtheria10.2
22neonatal respiratory failure10.2
23beta thalassemia10.2
24wiskott-aldrich syndrome10.2
25systemic lupus erythematosus10.2
26acute t cell leukemia10.2
27diabetes insipidus10.2
28central nervous system leukemia10.2
29biotinidase deficiency10.2
30tonsillitis10.2
31down syndrome10.2
32adenoiditis10.2
33cervicitis10.2
34histiocytosis10.2
35hypertension10.2
36langerhans-cell histiocytosis10.2
37lupus erythematosus10.2
38myelodysplastic myeloproliferative cancer10.2
39severe combined immunodeficiency10.2
40thalassemia10.2
41thrombocytopenia10.2
42tooth disease10.2
43noonan syndrome 110.2
44pilocytic astrocytoma10.0NF1
45cardiofaciocutaneous syndrome10.0KRAS
46astrocytoma10.0NF1
47gastrointestinal stromal tumor10.0NF1
48malignant peripheral nerve sheath tumor10.0NF1
49cherubism10.0PTPN11
50leopard syndrome10.0PTPN11

Graphical network of the top 20 diseases related to Juvenile Myelomonocytic Leukemia:



Diseases related to juvenile myelomonocytic leukemia

Clinical Features for Juvenile Myelomonocytic Leukemia

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46OMIM
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Clinical features from OMIM:

607785

Drugs & Therapeutics for Juvenile Myelomonocytic Leukemia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Juvenile Myelomonocytic Leukemia

Drug clinical trials:

Search ClinicalTrials for Juvenile Myelomonocytic Leukemia

Search NIH Clinical Center for Juvenile Myelomonocytic Leukemia

Search CenterWatch for Juvenile Myelomonocytic Leukemia

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Juvenile Myelomonocytic Leukemia cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Juvenile Myelomonocytic Leukemia:
Hemacord
Embryonic/Adult Cultured Cells Related to Juvenile Myelomonocytic Leukemia:
Umbilical cord blood-derived hematopoietic progenitor cells (HEMACORD, PMID: 9828244

Genetic Tests for Juvenile Myelomonocytic Leukemia

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22GTR
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Genetic tests related to Juvenile Myelomonocytic Leukemia:

id Genetic test Affiliating Genes
1 Juvenile Myelomonocytic Leukemia22

Anatomical Context for Juvenile Myelomonocytic Leukemia

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32MalaCards
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MalaCards organs/tissues related to Juvenile Myelomonocytic Leukemia:

32
Myeloid, Bone, Bone marrow, T cells, Nk cells, Tonsil, B cells, Skin, Lung, Lymph node, B lymphoblasts

Animal Models for Juvenile Myelomonocytic Leukemia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Juvenile Myelomonocytic Leukemia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.9PTPN11, KRAS, NF1
2MP:00053718.2PTPN11, KRAS, NF1, NRAS
3MP:00020068.2NRAS, NF1, KRAS, PTPN11
4MP:00053708.2NRAS, NF1, KRAS, PTPN11
5MP:00107718.1NRAS, NF1, KRAS, PTPN11
6MP:00053978.1PTPN11, KRAS, NF1, NRAS
7MP:00028738.0PTPN11, KRAS, NF1, NRAS
8MP:00053857.8NRAS, NF1, KRAS, PTPN11

Publications for Juvenile Myelomonocytic Leukemia

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50PubMed
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Articles related to Juvenile Myelomonocytic Leukemia:

(show top 50)    (show all 197)
idTitleAuthorsYear
1
Treatment of disease recurrence after allogeneic hematopoietic stem cell transplantation in children with juvenile myelomonocytic leukemia: a great challenge still to be won. (22976832)
2013
2
Validation of flow cytometric phospho-STAT5 as a diagnostic tool for juvenile myelomonocytic leukemia. (24241400)
2013
3
Patient-derived induced pluripotent stem cells recapitulate hematopoietic abnormalities of juvenile myelomonocytic leukemia. (23620576)
2013
4
Analysis of risk factors influencing outcomes after cord blood transplantation in children with juvenile myelomonocytic leukemia: a EUROCORD, EBMT, EWOG-MDS, CIBMTR study. (23926304)
2013
5
Spliceosomal gene mutations are frequent events in the diverse mutational spectrum of chronic myelomonocytic leukemia but largely absent in juvenile myelomonocytic leukemia. (22773603)
2013
6
Deficiency of CREB and over expression of miR-183 in juvenile myelomonocytic leukemia. (23417028)
2013
7
Constitutional NRAS mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia. (22887781)
2012
8
Gene mutations in the Ras pathway and the prognostic implication in Korean patients with juvenile myelomonocytic leukemia. (21901340)
2012
9
Novel splicing-factor mutations in juvenile myelomonocytic leukemia. (22343734)
2012
10
Germline PTPN11 mutation affecting exon 8 in a case of syndromic juvenile myelomonocytic leukemia. (21106241)
2011
11
Aberrant DNA methylation characterizes juvenile myelomonocytic leukemia with poor outcome. (21406719)
2011
12
Juvenile myelomonocytic leukemia. (22195407)
2011
13
Disappearance of minimal residual disease after the early withdrawal of immunosuppressants in a patient with juvenile myelomonocytic leukemia. (21225940)
2011
14
Acute respiratory failure in 3 children with juvenile myelomonocytic leukemia. (21572349)
2011
15
Juvenile myelomonocytic leukemia: epidemiology, etiopathogenesis, diagnosis, and management considerations. (20034338)
2010
16
Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia. (20694012)
2010
17
Morphologic differential diagnosis of juvenile myelomonocytic leukemia--pitfalls apart from viral infection. (19415027)
2009
18
Juvenile myelomonocytic leukemia with t(7;11)(p15;p15) and NUP98-HOXA11 fusion. (19338047)
2009
19
Juvenile myelomonocytic leukemia and chronic myelomonocytic leukemia. (18548091)
2008
20
Graft versus leukemia effect against juvenile myelomonocytic leukemia after unrelated cord blood transplantation. (17437289)
2008
21
Second allogeneic hematopoietic stem cell transplantation (HSCT) results in outcome similar to that of first HSCT for patients with juvenile myelomonocytic leukemia. (17268527)
2007
22
Biotinidase deficiency and juvenile myelomonocytic leukemia in a Turkish infant of consanguineous parents. (17710663)
2007
23
Acquisition of loss of the wild-type NRAS locus with aggressive disease progression in a patient with juvenile myelomonocytic leukemia and a heterozygous NRAS mutation. (18024411)
2007
24
Juvenile myelomonocytic leukemia presenting with facial nerve paresis: a unique presentation. (17984696)
2007
25
Gene transfer of SHIP-1 inhibits proliferation of juvenile myelomonocytic leukemia cells carrying KRAS2 or PTPN11 mutations. (17268534)
2007
26
Respiratory failure, juvenile myelomonocytic leukemia, and neonatal Noonan syndrome. (17414570)
2007
27
Chromosomal change during 6-mercaptopurine (6-MP) therapy in juvenile myelomonocytic leukemia: the growth of a 6-MP-refractory clone that already exists at onset. (16424864)
2006
28
Pulmonary hypertension in a child with juvenile myelomonocytic leukemia secondary to pulmonary leukemic cell infiltration. (17065143)
2006
29
An exclusive case of juvenile myelomonocytic leukemia in association with Kikuchi's disease and hemophagocytic lymphohistiocytosis and a review of the literature. (16487587)
2006
30
Does hematopoietic stem cell transplantation improve patient outcome in juvenile myelomonocytic leukemia? (16264985)
2005
31
Hematopoietic stem cell transplantation (HSCT) in children with juvenile myelomonocytic leukemia (JMML): results of the EWOG-MDS/EBMT trial. (15353481)
2005
32
Simultaneous control of third-degree graft-versus-host disease and prevention of recurrence of juvenile myelomonocytic leukemia (JMML) with 6-mercaptopurine following fulminant JMML relapse early after KIR-mismatched bone marrow transplantation. (16344675)
2005
33
Complete remission following clofarabine treatment in refractory juvenile myelomonocytic leukemia. (15750451)
2005
34
Development of two cytogenetically abnormal clones from multipotential hematopoietic stem cells in a patient with juvenile myelomonocytic leukemia. (16038733)
2005
35
A 3-bp deletion mutation of PTPN11 in an infant with severe Noonan syndrome including hydrops fetalis and juvenile myelomonocytic leukemia. (15211660)
2004
36
Second allogeneic hematopoietic stem cell transplantation for juvenile myelomonocytic leukemia: case report and literature review. (15125612)
2004
37
Juvenile myelomonocytic leukemia presenting with features of hemophagocytic lymphohistiocytosis in association with neurofibromatosis and juvenile xanthogranulomas. (15342987)
2004
38
Expression analysis of alpha-NAC and ANX2 in juvenile myelomonocytic leukemia using SMART polymerase chain reaction and "virtual Northern" hybridization. (12699894)
2003
39
Successful treatment of juvenile myelomonocytic leukemia relapsing after stem cell transplantation using donor lymphocyte infusion. (12393482)
2003
40
B lineage acute lymphoblastic leukemia transformation in a child with juvenile myelomonocytic leukemia, type 1 neurofibromatosis and monosomy of chromosome 7. Possible implications in the leukemogenesis. (12531231)
2003
41
Allogeneic hematopoietic stem cell transplantation for 27 children with juvenile myelomonocytic leukemia diagnosed based on the criteria of the International JMML Working Group. (11960345)
2002
42
Human herpesvirus 6 infection mimicking juvenile myelomonocytic leukemia in an infant. (11990701)
2002
43
RAS mutations and clonality analysis in children with juvenile myelomonocytic leukemia (JMML). (10049057)
1999
44
Gene expression of the hematopoietic cell phosphatase in juvenile myelomonocytic leukemia. (10609786)
1999
45
Diphtheria toxin fused to granulocyte-macrophage colony-stimulating factor is toxic to blasts from patients with juvenile myelomonocytic leukemia and chronic myelomonocytic leukemia. (9834234)
1998
46
Conformationally defined retinoic acid analogues. 4. Potential new agents for acute promyelocytic and juvenile myelomonocytic leukemias. (9572893)
1998
47
Results of intensive chemotherapy in children with juvenile chronic myelomonocytic leukemia: a pilot study. (9835905)
1998
48
Unbalanced t(3;12) in a case of juvenile myelomonocytic leukemia (JMML) results in partial trisomy of 3q as defined by FISH. (9305599)
1997
49
EVI-1 gene expression in myeloid clonogenic cells from juvenile myelomonocytic leukemia (JMML). (9447818)
1997
50
Juvenile myelomonocytic leukemia: molecular understanding and prospects for therapy. (8947912)
1996

Genetic Variations for Juvenile Myelomonocytic Leukemia

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Juvenile Myelomonocytic Leukemia:

62 (show all 12)
id Symbol AA change Variation ID SNP ID
1ARHGAP26p.Asn417SerVAR_013623
2PTPN11p.Asp61ValVAR_015991
3PTPN11p.Asp61TyrVAR_015992
4PTPN11p.Glu69LysVAR_015993
5PTPN11p.Ala72ThrVAR_015996
6PTPN11p.Ala72ValVAR_015997
7PTPN11p.Glu76AlaVAR_015998
8PTPN11p.Glu76GlyVAR_015999
9PTPN11p.Glu76LysVAR_016000rs28933388
10PTPN11p.Glu76ValVAR_016001
11PTPN11p.Gly507AlaVAR_016002
12SETBP1p.Asp868AsnVAR_063807

Expression for genes affiliated with Juvenile Myelomonocytic Leukemia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Juvenile Myelomonocytic Leukemia

Search GEO for disease gene expression data for Juvenile Myelomonocytic Leukemia.

Pathways for genes affiliated with Juvenile Myelomonocytic Leukemia

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Sources:
37NCBI BioSystems Database, 4Cell Signaling Technology, 53Reactome, 51QIAGEN, 55SinoBiological, 49PharmGKB, 29KEGG, 59Tocris Bioscience, 12EMD Millipore
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Pathways related to Juvenile Myelomonocytic Leukemia according to GeneCards/GeneDecks:

(show all 47)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9PTPN11
29.4PTPN11, NF1
39.3KRAS, PTPN11
49.3KRAS, PTPN11
5
Hide members
9.3PTPN11, KRAS
69.2NF1, NRAS
7
Hide members
9.1NRAS, KRAS
89.1KRAS, NRAS
99.1KRAS, NRAS
10
Hide members
9.1NRAS, KRAS
119.1KRAS, NRAS
129.1KRAS, NRAS
13
Hide members
9.1NRAS, KRAS
14
Hide members
9.1KRAS, NRAS
15
Hide members
9.1KRAS, NRAS
16
Hide members
9.1NRAS, KRAS
17
Hide members
9.1KRAS, NRAS
18
Signal transduction cAMP signaling
Hide members
9.1KRAS, NRAS
19
Hide members
9.1KRAS, NRAS
20
Hide members
9.1KRAS, NRAS
219.1KRAS, NRAS
22
Hide members
9.1NRAS, KRAS
23
Hide members
9.1KRAS, NRAS
249.1KRAS, NRAS
25
Hide members
8.9NF1, KRAS, PTPN11
26
Hide members
8.7NRAS, NF1, KRAS
27
Hide members
8.7KRAS, NF1, NRAS
288.5NRAS, KRAS, PTPN11
29
Translation Insulin regulation of translation
Hide members
8.5NRAS, KRAS, PTPN11
30
Hide members
8.5NRAS, KRAS, PTPN11
31
Hide members
8.5NRAS, KRAS, PTPN11
328.5NRAS, KRAS, PTPN11
33
Hide members
8.5NRAS, KRAS, PTPN11
348.5NRAS, KRAS, PTPN11
35
Development Prolactin receptor signaling
Hide members
8.5PTPN11, KRAS, NRAS
36
G-protein signaling Ras family GTPases in kinase cascades (scheme)
Hide members
8.5PTPN11, KRAS, NRAS
37
Hide members
8.5PTPN11, KRAS, NRAS
38
Hide members
8.5PTPN11, KRAS, NRAS
39
Hide members
8.5PTPN11, KRAS, NRAS
40
Hide members
8.5PTPN11, KRAS, NRAS
41
Hide members
8.5PTPN11, KRAS, NRAS
428.5PTPN11, KRAS, NRAS
43
Hide members
8.5PTPN11, KRAS, NRAS
448.5PTPN11, KRAS, NRAS
45
Hide members
8.5PTPN11, KRAS, NRAS
46
Hide members
8.5PTPN11, KRAS, NRAS
47
Hide members
8.0PTPN11, KRAS, NRAS, ARHGAP26

Compounds for genes affiliated with Juvenile Myelomonocytic Leukemia

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44Novoseek
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Compounds related to Juvenile Myelomonocytic Leukemia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1phosphatidylinositol448.9PTPN11, KRAS, NF1
2rapamycin448.8PTPN11, KRAS, NF1
3oligonucleotide448.1PTPN11, KRAS, NF1, NRAS
4tyrosine447.8NRAS, NF1, KRAS, PTPN11

GO Terms for genes affiliated with Juvenile Myelomonocytic Leukemia

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16Gene Ontology
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Biological processes related to Juvenile Myelomonocytic Leukemia according to GeneCards/GeneDecks:

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of Rac protein signal transductionGO:0350229.4KRAS, NRAS
2striated muscle cell differentiationGO:0511469.4KRAS, NRAS
3activation of MAPKK activityGO:0001869.1KRAS, NRAS
4negative regulation of neuron apoptotic processGO:0435249.1KRAS, NRAS
5regulation of synaptic transmission, GABAergicGO:0322289.0KRAS, NF1, NRAS
6regulation of long-term neuronal synaptic plasticityGO:0481699.0NRAS, NF1, KRAS
7visual learningGO:0085429.0KRAS, NF1, NRAS
8MAPK cascadeGO:0001659.0NRAS, NF1, KRAS
9Ras protein signal transductionGO:0072659.0KRAS, NF1, NRAS
10leukocyte migrationGO:0509008.8NRAS, KRAS, PTPN11
11insulin receptor signaling pathwayGO:0082868.7NRAS, KRAS, PTPN11
12fibroblast growth factor receptor signaling pathwayGO:0085438.7PTPN11, KRAS, NRAS
13Fc-epsilon receptor signaling pathwayGO:0380958.7PTPN11, KRAS, NRAS
14epidermal growth factor receptor signaling pathwayGO:0071738.7NRAS, KRAS, PTPN11
15small GTPase mediated signal transductionGO:0072648.7KRAS, NRAS, ARHGAP26
16neurotrophin TRK receptor signaling pathwayGO:0480118.7PTPN11, KRAS, NRAS
17axon guidanceGO:0074118.6NRAS, KRAS, PTPN11
18actin cytoskeleton organizationGO:0300368.5KRAS, NF1, NRAS, ARHGAP26
19blood coagulationGO:0075968.4NRAS, KRAS, PTPN11
20innate immune responseGO:0450878.2PTPN11, KRAS, NRAS

Products for genes affiliated with Juvenile Myelomonocytic Leukemia

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  • Antibodies
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Sources for Juvenile Myelomonocytic Leukemia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet