MCID: CHR090
MIFTS: 74

Chronic Lymphocytic Leukemia malady

Genetic diseases, Rare diseases, Cancer diseases, Blood diseases, Immune diseases categories

Aliases & Classifications for Chronic Lymphocytic Leukemia

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Sources:
30LifeMap Discovery®, 9Disease Ontology, 41NIH Rare Diseases, 11DISEASES, 32MedlinePlus, 60UMLS, 47Orphanet, 43Novoseek, 22GTR, 33MeSH, 26ICD10 via Orphanet, 61UMLS via Orphanet, 34MESH via Orphanet, 25ICD10
See all sources

Chronic Lymphocytic Leukemia, Aliases & Descriptions:

Name: Chronic Lymphocytic Leukemia 30 9 41 11 32 60
Lymphoplasmacytic Leukemia 9 47 60
B-Cell Chronic Lymphocytic Leukemia 9 47
Leukemia Lymphocytic Chronic 43 22
Small Lymphocytic Lymphoma 47 60
Cll 9 41
Lymphocytic Leukemia Chronic B-Cell 43
 
B-Cell Chronic Lymphoid Leukemia 47
Lymphoplasmacytoid Immunocytoma 47
Leukemia, Lymphocytic, Chronic 41
B-Cell Malignancy, Low-Grade 60
Chronic Lymphatic Leukemia 9
B-Cll 47


Classifications:



Characteristics (Orphanet epidemiological data):

47
lymphoplasmacytic leukemia:
Inheritance: Multigenic/multifactorial,Not applicable; Prevalence: 1-5/10000 (Europe),1-9/100000 (France); Age of onset: Adult


External Ids:

Disease Ontology9 DOID:1040
MeSH33 D015451
Orphanet47 67038
ICD10 via Orphanet26 C91.1
UMLS via Orphanet61 C0023434
MESH via Orphanet34 D015451
ICD1025 C91.1

Summaries for Chronic Lymphocytic Leukemia

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NIH Rare Diseases:41 Chronic lymphocytic leukemia (cll) is a cancer of the lymphocytes (a type of white blood cell) that begins in the stem cells of the bone marrow and then invades the blood. overtime, cll may also spread to the lymph nodes and other organs including the liver, spleen and lungs. it occurs when the stem cells that make lymphocytes become out of control and produce increasing amounts of abnormal lymphocytes (also called leukemic cells). eventually, these abnormal cells replace normal lymphocytes and can crowd out other types of normal blood cells, leading to the features of the condition. early signs and symptoms of cll may include fatigue, weight loss, loss of appetite, fever, night sweats and/or frequent infections. the exact underlying cause of cll is unknown; however, approximately 5% of affected people have other family members with the condition, which suggests there may be a genetic component in rare cases. the best treatment depends on many factors including the stage of the condition, the age of the affected person, the blood cell counts, whether the cll has recurred, and the signs and symptoms present in each person. last updated: 12/27/2014

MalaCards based summary: Chronic Lymphocytic Leukemia, also known as lymphoplasmacytic leukemia, is related to leukemia and hodgkin lymphoma, and has symptoms including autosomal dominant inheritanceand chronic lymphatic leukemia. An important gene associated with Chronic Lymphocytic Leukemia is ATM (ataxia telangiectasia mutated), and among its related pathways are TP53 network and Cell cycle Role of 14 3 3 proteins in cell cycle regulation. The drugs cyclophosphamide and etoposide phosphate and the compounds aphidicolin and melphalan have been mentioned in the context of this disorder. Affiliated tissues include b cells, bone and bone marrow, and related mouse phenotypes are embryogenesis and hematopoietic system.

Disease Ontology:9 A lymphoblastic leukemia characterized by over production of b-cells and their accumulation in bone marrow and blood.

MedlinePlus:32 Leukemia is cancer of the white blood cells. white blood cells help your body fight infection. your blood cells form in your bone marrow. in leukemia, the bone marrow produces abnormal white blood cells. these cells crowd out the healthy blood cells, making it hard for blood to do its work. in chronic lymphocytic leukemia (cll), there are too many lymphocytes, a type of white blood cell. cll is the second most common type of leukemia in adults. it often occurs during or after middle age, and is rare in children. usually cll does not cause any symptoms. if you have symptoms, they may include painless swelling of the lymph nodes in the neck, underarm, stomach, or groin fatigue pain or a feeling of fullness below the ribs fever and infection weight loss tests that examine the blood, bone marrow, and lymph nodes diagnose cll. your doctor may choose to just monitor you until symptoms appear or change. treatments include radiation therapy, chemotherapy, surgery to remove the spleen, and targeted therapy. targeted therapy uses substances that attack cancer cells without harming normal cells. nih: national cancer institute

Related Diseases for Chronic Lymphocytic Leukemia

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Diseases in the Chronic Lymphocytic Leukemia family:

Adult Acute Lymphocytic Leukemia Familial Acute Lymphocytic Leukemia
Familial Chronic Lymphocytic Leukemia

Diseases related to Chronic Lymphocytic Leukemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 289)
idRelated DiseaseScoreTop Affiliating Genes
1leukemia32.7ZAP70, RAD51, CD38, ATM, TP53, CXCR4
2hodgkin lymphoma32.1TNFSF13B, ATM, IGHM, ZAP70
3prolymphocytic leukemia31.5CD38, ZAP70, ATM, CCND1
4mantle cell lymphoma31.5ATM, CCND1
5myeloma31.5CCND1, CD38, TNFSF13B, CXCR4, IGHM
6follicular lymphoma31.2CCND1, IGHM, ZAP70
7ataxia-telangiectasia31.1ATM, RAD51, TP53
8b-cell lymphomas31.1TP53, ZAP70, TNFSF13B, IGHM, CCND1, ATM
9severe combined immunodeficiency31.0ZAP70, CXCR4, CD38
10multiple myeloma31.0CD38, CCND1, TP53
11agammaglobulinemia30.7IGHM, CXCR4
12waldenstrom macroglobulinemia30.5IGHM, CCND1, ZAP70
13melanoma30.5ATM, ZAP70, CCND1, CXCR4, TP53
14adenoma30.4RAD51, CCND1, CXCR4, TP53, ATM
15squamous cell carcinoma, head and neck30.3CXCR4, TP53, CCND1
16glioblastoma30.1CCND1, ATM, TP53, CXCR4
17lung cancer30.1CXCR4, CCND1, RAD51, TP53
18breast cancer29.9RAD51, BTG1, ATM, CCND1, TP53, CXCR4
19prostate cancer29.9CCND1, ATM, TP53, RAD51, CXCR4
20hemolytic anemia10.9
21richter's syndrome10.9
22autoimmune hemolytic anemia10.9
23familial chronic lymphocytic leukemia10.9
24endotheliitis10.7
25pure red-cell aplasia10.7
26lymphoid leukemia10.6
27merkel cell carcinoma10.6
28glomerulonephritis10.6
29pemphigus10.6
30cll/sll10.6
31bilateral breast cancer10.6RAD51, ATM
32chromosomal triplication10.6ATM, IGHM, CD38, ZAP70
33herpes simplex10.6
34myeloid leukemia10.6
35hypersensitivity reaction type ii disease10.5IGHM, TNFSF13B, CXCR4, ZAP70, CD38
36ipex syndrome10.5ZAP70, CXCR4, TNFSF13B, IGHM, ATM, CD38
37diffuse large b-cell lymphoma10.5
38thrombocytopenia10.5
39progressive multifocal leukoencephalopathy10.5
40paraneoplastic pemphigus10.5
41hematologic cancer10.5ATM, CXCR4, ZAP70
42viral infectious disease10.5CD38, CXCR4, TNFSF13B, ZAP70
43human immunodeficiency virus infectious disease10.5CXCR4, CD38
44macroglobulinemia10.5
45lymphoblastic leukemia10.5
46essential thrombocythemia10.5
47chronic myelomonocytic leukemia10.4
48hemophagocytic lymphohistiocytosis10.4
49postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma10.4
50membranoproliferative glomerulonephritis10.4

Graphical network of the top 20 diseases related to Chronic Lymphocytic Leukemia:



Diseases related to chronic lymphocytic leukemia

Symptoms for Chronic Lymphocytic Leukemia

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HPO human phenotypes related to Chronic Lymphocytic Leukemia:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 chronic lymphatic leukemia HP:0005550

Drugs & Therapeutics for Chronic Lymphocytic Leukemia

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Drug clinical trials:

Search ClinicalTrials for Chronic Lymphocytic Leukemia

Search NIH Clinical Center for Chronic Lymphocytic Leukemia

Inferred drug relations via UMLS60/NDF-RT39:

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Chronic Lymphocytic Leukemia cell therapies at LifeMap Discovery.

Genetic Tests for Chronic Lymphocytic Leukemia

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Genetic tests related to Chronic Lymphocytic Leukemia:

id Genetic test Affiliating Genes
1 Chronic Lymphocytic Leukemia22

Anatomical Context for Chronic Lymphocytic Leukemia

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MalaCards organs/tissues related to Chronic Lymphocytic Leukemia:

31
B cells, Bone, Bone marrow, T cells, Lymph node, Spleen, Testes, Liver, Lung, Endothelial, Myeloid, Skin, Colon, Nk cells, Monocytes, Breast, Whole blood, Kidney, Thyroid, Prostate, Tonsil, Neutrophil, Brain, Heart, Smooth muscle, Testis, Pituitary

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Chronic Lymphocytic Leukemia:
id TissueAnatomical CompartmentCell Relevance
1 BloodHematopoietic Bone MarrowHematopoietic Stem Cells Potential therapeutic candidate
2 BloodPeripheral BloodMature B-Cells Potential therapeutic candidate, affected by disease
3 BloodHematopoietic Bone MarrowSmall Pre B-Cells Potential therapeutic candidate, affected by disease

Animal Models for Chronic Lymphocytic Leukemia or affiliated genes

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MGI Mouse Phenotypes related to Chronic Lymphocytic Leukemia:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538010.3RAD51, CXCR4, BRWD3, POT1, TP53, ATM
2MP:000539710.3CD38, ATM, IGHM, IGHG1, TNFSF13B, TP53
3MP:000538710.2ATM, IGHM, IGHG1, TNFSF13B, TP53, CXCR4
4MP:000538410.2ATM, IGHM, TP53, POT1, CXCR4, CCND1
5MP:000200610.1ATM, IGHM, IGHG1, TP53, CCND1

Publications for Chronic Lymphocytic Leukemia

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Articles related to Chronic Lymphocytic Leukemia:

(show top 50)    (show all 2444)
idTitleAuthorsYear
1
Pathogenesis of chronic lymphocytic leukemia. (25876778)
2015
2
Population Pharmacokinetics of Obinutuzumab (GA101) in Chronic Lymphocytic Leukemia (CLL) and Non-Hodgkin's Lymphoma and Exposure-Response in CLL. (25353187)
2014
3
Reply to myelosuppression after frontline fludarabine, cyclophosphamide, and rituximab in patients with chronic lymphocytic leukemia: Analysis of Persistent and New-Onset Cytopenia. (24151154)
2013
4
Increased frequency of CD8+ and CD4+ regulatory T cells in chronic lymphocytic leukemia: association with disease progression. (23286587)
2013
5
Improving but inferior survival in patients with chronic lymphocytic leukemia in taiwan: a population-based study, 1990-2004. (23638168)
2013
6
Concomitant JAK2 V617F-positive polycythemia vera and B-cell chronic lymphocytic leukemia in three patients originating from two separate hematopoietic stem cells. (23280542)
2013
7
DNA repair initiation induces expression of ribonucleotide reductase in human chronic lymphocytic leukemia cells. (23772636)
2013
8
Richter syndrome: chronic lymphocytic leukemia transformation into Hodgkin's disease. (24266095)
2013
9
Ibrutinib in relapsed chronic lymphocytic leukemia. (24066758)
2013
10
The significance of stereotyped B-cell receptors in chronic lymphocytic leukemia. (23561471)
2013
11
High CD74 expression correlates with ZAP70 expression in B cell chronic lymphocytic leukemia patients. (23572149)
2013
12
Cutaneous metastasis of gallbladder adenocarcinoma in a patient with chronic lymphocytic leukemia: a case report and review of the literature. (23467457)
2013
13
IGHV-unmutated and IGHV-mutated chronic lymphocytic leukemia cells produce activation-induced deaminase protein with a full range of biologic functions. (23071276)
2012
14
miRNA-130a targets ATG2B and DICER1 to inhibit autophagy and trigger killing of chronic lymphocytic leukemia cells. (22350415)
2012
15
CD69 is independently prognostic in chronic lymphocytic leukemia: a comprehensive clinical and biological profiling study. (21993667)
2012
16
Enhanced levels of both the membrane-bound and soluble forms of IgM Fc receptor (Fc?R) in patients with chronic lymphocytic leukemia. (21908424)
2011
17
TP53 mutation profile in chronic lymphocytic leukemia: evidence for a disease specific profile from a comprehensive analysis of 268 mutations. (20861914)
2010
18
IGHV3-21 gene usage is associated with high TCL1 expression in chronic lymphocytic leukemia. (19889012)
2010
19
Infrequent occurrence of PIK3CA mutations in chronic lymphocytic leukemia. (19330652)
2009
20
Disruption of T cell suppression in chronic lymphocytic leukemia by CD200 blockade. (18838168)
2009
21
Stereotyped B-cell receptor is an independent risk factor of chronic lymphocytic leukemia transformation to Richter syndrome. (19509140)
2009
22
The Akt/Mcl-1 pathway plays a prominent role in mediating antiapoptotic signals downstream of the B-cell receptor in chronic lymphocytic leukemia B cells. (17928528)
2008
23
Association studies of CTLA-4, CD28, and ICOS gene polymorphisms with B-cell chronic lymphocytic leukemia in the Polish population. (18396212)
2008
24
Familial chronic lymphocytic leukemia. (20425469)
2008
25
Construction, expression and in vitro biological effects of idiotype Ig Fab fragment of B-chronic lymphocytic leukemia. (18846324)
2008
26
Expression of CLLU1 in patients with chronic lymphocytic leukemia and its prognostic significance]. (18457263)
2007
27
Aberrant expression of T-cell-associated markers CD4 and CD7 on B-cell chronic lymphocytic leukemia. (17019687)
2007
28
Homeostatic chemokines increase survival of B-chronic lymphocytic leukemia cells through inactivation of transcription factor FOXO3a. (17496928)
2007
29
Expression of soluble CD27 and interleukins-8 and -10 in B-cell chronic lymphocytic leukemia: correlation with disease stage and prognosis. (17526459)
2007
30
Signaling pathways activated by antigen-receptor engagement in chronic lymphocytic leukemia B-cells. (18035318)
2007
31
The SDF-1 G > A polymorphism at position 801 plays no role in multiple myeloma but may contribute to an inferior cause-specific survival in chronic lymphocytic leukemia. (16923552)
2006
32
Sequential fluorescence in situ hybridization analysis for trisomy 12 in B-cell chronic lymphocytic leukemia. (15998971)
2005
33
Circulating vascular endothelial growth factor (VEGF) and its soluble receptors in patients with chronic lymphocytic leukemia. (15809205)
2005
34
Cyclin D expression in chronic lymphocytic leukemia. (16109604)
2005
35
Purine nucleoside analogues and combination therapies in B-cell chronic lymphocytic leukemia: dawn of a new era. (15068894)
2004
36
Fluorescence in situ hybridization detection of cytogenetic abnormalities in B-cell chronic lymphocytic leukemia/small lymphocytic lymphoma. (15370211)
2004
37
ATM mutations in B-cell chronic lymphocytic leukemia. (14754616)
2004
38
Cyclic lymphocytic vasculitis associated with chronic lymphocytic leukemia. (15160961)
2004
39
Hodgkin's type of Richter's syndrome in familial chronic lymphocytic leukemia treated with cladribine and cyclophosphamide. (12802926)
2003
40
Cytokine modulation of nuclear factor-kappaB activity in B-chronic lymphocytic leukemia. (12644014)
2003
41
Homologous recombinational repair vis-A -vis chlorambucil resistance in chronic lymphocytic leukemia. (12007561)
2002
42
Peripheral blood CD38 expression predicts time to progression in B-cell chronic lymphocytic leukemia after first-line therapy with high-dose chlorambucil. (11836173)
2002
43
CAMPATH (alemtuzumab) for the treatment of chronic lymphocytic leukemia and beyond. (12113063)
2002
44
Involvement of protein kinase C and phosphatidylinositol 3-kinase pathways in the survival of B-cell chronic lymphocytic leukemia cells. (11929788)
2002
45
Interleukin-6 and interleukin-10 levels in chronic lymphocytic leukemia: correlation with phenotypic characteristics and outcome. (11133769)
2001
46
Survivin is expressed on CD40 stimulation and interfaces proliferation and apoptosis in B-cell chronic lymphocytic leukemia. (11313271)
2001
47
The activation of intracellular tyrosine kinases by interferon-alpha (IFNalpha) correlates with its antiproliferative activity in B-lymphoid cell lines, but not in B-cell chronic lymphocytic leukemia patients. (10803933)
2000
48
p53 expression in B-cell chronic lymphocytic leukemia: a marker of disease progression and poor prognosis. (9596683)
1998
49
Expression of A-myb, but not c-myb and B-myb, is restricted to Burkitt's lymphoma, sIg+ B-acute lymphoblastic leukemia, and a subset of chronic lymphocytic leukemias. (8634438)
1996
50
Apoptosis sensitivity in chronic lymphocytic leukemia is determined by endogenous endonuclease content and relative expression of BCL-2 and BAX. (8786328)
1996

Variations for Chronic Lymphocytic Leukemia

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Expression for genes affiliated with Chronic Lymphocytic Leukemia

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Search GEO for disease gene expression data for Chronic Lymphocytic Leukemia.

Pathways for genes affiliated with Chronic Lymphocytic Leukemia

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Pathways related to Chronic Lymphocytic Leukemia according to GeneCards Suite gene sharing:

(show all 34)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
10.4ATM, TP53
2
Show member pathways
10.4TP53, ATM
310.4ATM, TP53
410.4ATM, TP53
510.4TP53, CCND1
6
Show member pathways
10.4ATM, RAD51
7
Show member pathways
Homologous recombination36
10.4ATM, RAD51
810.4CCND1, ATM, TP53
9
Show member pathways
Cell cycle36
10.4CCND1, ATM, TP53
1010.4CCND1, ATM, TP53
1110.4CCND1, TP53, ATM
12
Show member pathways
DNA damage response (only ATM dependent)36
Wnt Signaling Pathway and Pluripotency36
10.4CCND1, TP53, ATM
13
Show member pathways
10.4ATM, TP53, CCND1
14
Show member pathways
Signaling Pathways in Glioblastoma36
10.4CCND1, TP53, ATM
15
Show member pathways
Prostate Cancer36
Integrated Cancer pathway36
Steroid Biosynthesis36
10.4ATM, TP53, CCND1
16
Show member pathways
10.4TP53, ATM, CCND1
1710.4ATM, CCND1, POT1
18
Show member pathways
Development IGF RI signaling
Immune response IL 4 signaling pathway58
Signal transduction AKT signaling58
10.4IGHG1, CCND1, TP53
1910.4TP53, RAD51, ATM
20
Show member pathways
10.4ATM, TP53, RAD51
2110.4ATM, RAD51, TP53
22
Show member pathways
ATM Signaling Pathway36
10.4RAD51, TP53, ATM
2310.4CCND1, TNFSF13B, TP53
24
Show member pathways
10.4TP53, RAD51, CCND1
2510.4ZAP70, TNFSF13B, ATM
26
Show member pathways
10.4CCND1, ATM, TP53, RAD51
2710.4TP53, RAD51, ATM, CCND1
2810.4CCND1, RAD51, ATM, TP53
29
Show member pathways
10.4TP53, CCND1, ATM, RAD51
30
Show member pathways
DNA damage response36
10.4RAD51, TP53, CCND1, ATM
31
Show member pathways
10.4ATM, CCND1, TP53, BTG1
32
Show member pathways
10.3TNFSF13B, ZAP70, TP53, CCND1, CXCR4
33
Show member pathways
10.3RAD51, ZAP70, ATM, TNFSF13B, TP53, CXCR4

Compounds for genes affiliated with Chronic Lymphocytic Leukemia

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Compounds related to Chronic Lymphocytic Leukemia according to GeneCards Suite gene sharing:

(show all 31)
idCompoundScoreTop Affiliating Genes
1aphidicolin4310.8TP53, RAD51, ATM
2melphalan43 49 1212.8RAD51, CCND1, TP53
3fludarabine43 49 1212.8TP53, CD38, ZAP70
4adpribose4310.8CD38, TP53, CCND1
5rituximab43 49 1212.7TNFSF13B, ZAP70, CD38
6hydroxyurea43 49 1212.7RAD51, TP53, ATM
7imatinib43 49 1212.7RAD51, CCND1, ZAP70, CXCR4
8gemcitabine43 49 1212.7TP53, RAD51, CCND1
9cisplatin43 49 59 1213.7CCND1, TP53, ATM, CXCR4, RAD51
10paclitaxel43 49 1212.7CCND1, RAD51, CXCR4, TP53
11thymidine43 2411.7RAD51, TNFSF13B, ZAP70, CCND1, TP53
12mitomycin c4310.7TP53, ATM, RAD51
13oligonucleotide4310.7TP53, ZAP70, RAD51, CCND1, CXCR4, POT1
14ly2940024310.7TP53, ATM, CXCR4, CCND1
15lactacystin4310.7TP53, CCND1, CXCR4
16thymidylate4310.7CCND1, RAD51, TP53
17wortmannin4310.7CCND1, ATM, CXCR4, RAD51
18bpde4310.7ATM, TP53
19caffeine43 28 2 49 24 1215.7RAD51, ATM, TP53
20camptothecin43 59 1212.6TP53, ATM, RAD51
21chlorambucil43 1211.6TP53, RAD51
22tyrosine4310.6ATM, CD38, FCRL2, CXCR4, CCND1, RAD51
23olomoucine43 1211.6TP53, CCND1
24phosphatidylinositol4310.6CCND1, ATM, CXCR4, CD38, ZAP70
25cyclophosphamide43 49 1212.5ZAP70, CXCR4, TP53
26estrogen4310.5CXCR4, TP53, ATM, RAD51, CCND1
27retinoic acid43 2411.4CD38, CXCR4, TP53, CCND1, BTG1
28cycloheximide4310.4TP53, CXCR4, CCND1, RAD51
29sulindac sulfide4310.3CCND1, TP53
30atp43 2811.3RAD51, CD38, CXCR4, ZAP70, ATM
31o6-methylguanine4310.1TP53, RAD51

GO Terms for genes affiliated with Chronic Lymphocytic Leukemia

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Biological processes related to Chronic Lymphocytic Leukemia according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1cellular response to DNA damage stimulusGO:000697410.6RAD51, CCND1, TP53, ATM
2double-strand break repairGO:000630210.6ATM, TP53, RAD51
3mitotic G1 DNA damage checkpointGO:003157110.5CCND1, TP53
4replicative senescenceGO:009039910.5ATM, TP53
5response to X-rayGO:001016510.4CCND1, TP53
6response to gamma radiationGO:001033210.4TRIM13, TP53
7response to hypoxiaGO:000166610.3ATM, CXCR4, CD38
8cellular response to ionizing radiationGO:007147910.1RAD51, TP53

Molecular functions related to Chronic Lymphocytic Leukemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:000551510.1ARL11, IGHG1, TNFSF13B, TP53, POT1, CXCR4

Products for genes affiliated with Chronic Lymphocytic Leukemia

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Sources for Chronic Lymphocytic Leukemia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet