SDS
MCID: SHW002
MIFTS: 68

Shwachman-Diamond Syndrome (SDS) malady

Genetic diseases, Rare diseases, Gastrointestinal diseases, Bone diseases, Fetal diseases, Blood diseases, Cancer diseases, Immune diseases, Endocrine diseases categories
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Summaries for Shwachman-Diamond Syndrome

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21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 Shwachman-diamond syndrome is an inherited condition that affects many parts of the body, particularly the bone marrow, pancreas, and skeletal system. about 90% of cases of shwachman-diamond syndrome are caused by mutations in the sbds gene. in cases where no sbds mutation is found, the cause of this disorder is unknown. this condition is inherited in an autosomal recessive manner. treatment may include enzyme and vitamin supplementation, blood and/or platelet transfusion, administration of granulocyte-colony stimulating factor (g-csf), and/or hematopoietic stem cell transplantation. last updated: 8/2/2012

MalaCards: Shwachman-Diamond Syndrome, also known as shwachman syndrome, is related to leukemia and breast cancer, and has symptoms including acute leukemia, polynuclear cells/neutrophils anomalies/neutropenia and myeloproliferative syndrome/chronic leukemia. An important gene associated with Shwachman-Diamond Syndrome is SBDS (Shwachman-Bodian-Diamond syndrome), and among its related pathways are HIF-1-alpha transcription factor network and Ribosome biogenesis in eukaryotes. The compounds zoledronic acid and ns 398 have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and pancreas, and related mouse phenotypes are embryogenesis and liver/biliary system.

Genetics Home Reference:21 Shwachman-Diamond syndrome is an inherited condition that affects many parts of the body, particularly the bone marrow, pancreas, and skeletal system.

Wikipedia:65 Shwachman?Diamond syndrome (SDS) or Shwachman?Bodian?Diamond syndrome is a rare congenital disorder... more...

Description from OMIM:47 260400

GeneReviews summary for sds

Aliases & Classifications for Shwachman-Diamond Syndrome

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19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 31LifeMap Discovery™, 62UMLS, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
shwachman-diamond syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Childhood; Age of death: Any age


Aliases & Descriptions:

shwachman-diamond syndrome 19 43 20 21 45 49 31
shwachman syndrome 19 22 21 49 62
shwachman-bodian-diamond syndrome 19 21 47 49
sds 43 21 49
pancreatic insufficiency and bone marrow dysfunction 43 49
congenital lipomatosis of pancreas 43 21
shwachman-bodian syndrome 43 21
pancreatic insufficiencybone marrow dysfunction 19
metaphyseal chondrodysplasia, shwachman type 21
lipomatosis of pancreas, congenital 43
shwachman-diamond-oski syndrome 21


External Ids:

ICD10 via Orphanet26 D61.0
SNOMED-CT via Orphanet59 89454001
OMIM47 260400

Related Diseases for Shwachman-Diamond Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Shwachman-Diamond Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 140)
idRelated DiseaseScoreTop Affiliating Genes
1leukemia30.7ARHGEF12, KMT2A, FPR1, NPM1
2breast cancer30.1KMT2A, TNFRSF11B, EIF6, NPM1, VEGFA
3pancreatitis10.7
4neutropenia10.5
5cystic fibrosis10.4
6diamond-blackfan anemia10.4
7type 1 diabetes mellitus10.4
8asphyxiating thoracic dystrophy10.4
9pancytopenia10.4
10exocrine pancreatic insufficiency10.4
11diabetes mellitus10.4
12hepatitis10.4
13osteoporosis10.4
14myelodysplastic syndromes10.4
15bacteremia10.4
16hematopoietic stem cell transplantation10.4
17retinitis10.4
18hemoglobin sd10.4
19syndromic diarrhea10.3
20diabetic ketoacidosis10.3
21central pontine myelinolysis10.3
22hypoglycemia10.3
23anhidrosis10.3
24dermatofibrosarcoma10.3
25common variable immunodeficiency10.3
26atrioventricular septal defect10.3
27adenocarcinoma10.3
28aplastic anemia10.3
29congenital heart disease10.3
30congestive heart failure10.3
31diarrhea10.3
32dilated cardiomyopathy10.3
33lipomatosis10.3
34liver disease10.3
35congenital insensitivity to pain with anhidrosis10.3
365q- syndrome10.3
37chromosome 20q deletion10.3
38dermatofibrosarcoma protuberans10.3
39growth hormone deficiency10.3
40inherited bone marrow failure syndromes10.3
41sinusitis10.3
42refractory anemia10.3
43glaucoma10.2
44age related macular degeneration10.1
45diabetic macular edema10.1
46ocular hypertension10.1
47hypertension10.1
48periodontitis10.1TNFRSF11B
49hereditary spherocytosis10.0
50retinitis pigmentosa10.0

Graphical network of the top 20 diseases related to Shwachman-Diamond Syndrome:



Diseases related to shwachman-diamond syndrome

Symptoms for Shwachman-Diamond Syndrome

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

260400

Clinical features from OMIM:

260400

Symptoms:

49 (show all 28)
  • acute leukemia
  • polynuclear cells/neutrophils anomalies/neutropenia
  • myeloproliferative syndrome/chronic leukemia
  • eczema
  • enanthema/aphtosa/aphta/leukoplakia
  • macrocytic anemia
  • bone marrow failure/pancytopenia
  • pancreatic failure/exocrine pancreas disease
  • structural anomalies of the pancreas
  • thrombocytopenia/thrombopenia
  • scoliosis
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • abnormal gait
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • hepatomegaly/liver enlargement (excluding storage disease)
  • delayed bone age
  • multiple caries
  • pectus carinatum
  • malabsorption/chronic diarrhea/steatorrhea
  • ichthyosis/ichthyosiform dermatitis
  • short stature/dwarfism/nanism
  • insulin-dependent/type 1 diabetes
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • metaphyseal anomaly
  • short rib cage/thorax
  • complete/partial microdontia
  • autosomal recessive inheritance

Drugs & Therapeutics for Shwachman-Diamond Syndrome

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42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Shwachman-Diamond Syndrome

Search NIH Clinical Center for Shwachman-Diamond Syndrome

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Shwachman-Diamond Syndrome cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Shwachman-Diamond Syndrome:
ALD-151, umbilical cord blood cells for hematologic and immunodefeciency diseases
Embryonic/Adult Cultured Cells Related to Shwachman-Diamond Syndrome:
Umbilical cord blood ALDH+ cells (ALD-151), PMID: 10430905

Genetic Tests for Shwachman-Diamond Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Shwachman-Diamond Syndrome:

id Genetic test Affiliating Genes
1 Shwachman-Diamond Syndrome20 SBDS
2 Shwachman Syndrome22

Anatomical Context for Shwachman-Diamond Syndrome

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33MalaCards
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MalaCards organs/tissues related to Shwachman-Diamond Syndrome:

33
Bone, Bone marrow, Pancreas, Liver, Myeloid, Heart, Brain, B cells, Testes, Breast

Animal Models for Shwachman-Diamond Syndrome or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Shwachman-Diamond Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.4ARHGEF12, NPM1, SBDS, KMT2A, VEGFA
2MP:00053708.1VEGFA, KMT2A, SBDS, EIF6, NPM1
3MP:00053977.9VEGFA, TNFRSF11B, KMT2A, SBDS, FPR1, NPM1
4MP:00053877.8VEGFA, TNFRSF11B, KMT2A, SBDS, FPR1, NPM1
5MP:00053857.8VEGFA, TNFRSF11B, KMT2A, SBDS, NPM1, ARHGEF12
6MP:00053847.5ARHGEF12, VEGFA, TNFRSF11B, KMT2A, SBDS, FPR1
7MP:00107687.3VEGFA, TNFRSF11B, KMT2A, SBDS, FPR1, EIF6
8MP:00053787.1VEGFA, TNFRSF11B, TPST1, KMT2A, SBDS, EIF6

Publications for Shwachman-Diamond Syndrome

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52PubMed
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Articles related to Shwachman-Diamond Syndrome:

(show top 50)    (show all 178)
idTitleAuthorsYear
1
CNS lymphoma in a patient with Shwachman Diamond syndrome. (24307640)
2014
2
Pluripotent stem cell models of Shwachman-Diamond syndrome reveal a common mechanism for pancreatic and hematopoietic dysfunction. (23602541)
2013
3
Atrioventricular septal defect in a case of Shwachman-Diamond syndrome. (23803361)
2013
4
Shwachman-Diamond syndrome: diarrhea, no longer required? (22935661)
2013
5
Clinical and molecular pathophysiology of Shwachman-Diamond syndrome: an update. (23351992)
2013
6
Deletion of chromosome 20 in bone marrow of patients with Shwachman-Diamond syndrome, loss of the EIF6 gene and benign prognosis. (22295858)
2012
7
Breast cancer in a case of Shwachman Diamond syndrome. (22213587)
2012
8
Lymphoma in a case of Shwachman-Diamond syndrome: PET/CT findings. (22157033)
2012
9
Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome. (22491737)
2012
10
Further characterization of Shwachman-Diamond syndrome: psychological functioning and quality of life in adult and young patients. (22315206)
2012
11
Deficiency of Sbds in the mouse pancreas leads to features of Shwachman-Diamond syndrome, with loss of zymogen granules. (22510201)
2012
12
Impaired ribosomal subunit association in Shwachman-Diamond syndrome. (23115272)
2012
13
Altered intracellular localization and mobility of SBDS protein upon mutation in Shwachman-Diamond syndrome. (21695142)
2011
14
Non-Diamond Blackfan anemia disorders of ribosome function: Shwachman Diamond syndrome and 5q- syndrome. (21435510)
2011
15
Defective ribosome assembly in Shwachman-Diamond syndrome. (21803848)
2011
16
A rare case: Shwachman-Diamond syndrome presenting with diabetic ketoacidosis. (21448781)
2011
17
Clinical spectrum and molecular pathophysiology of Shwachman-Diamond syndrome. (21124213)
2010
18
Enteropathic histopathological features may be associated with Shwachman-Diamond syndrome. (20501449)
2010
19
Improving the definition of the structure of the isochromosome i(7)(q10) in Shwachman-Diamond Syndrome. (20718726)
2010
20
Shwachman-Diamond syndrome: a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment. (19327581)
2009
21
Depletion of the Shwachman-Diamond syndrome gene product, SBDS, leads to growth inhibition and increased expression of OPG and VEGF-A. (19014892)
2009
22
Shwachman-Diamond syndrome presenting as hypoglycemia. (18832544)
2009
23
Totipotent stem cells bearing del(20q) maintain multipotential differentiation in Shwachman Diamond syndrome. (19016724)
2009
24
Shwachman-Diamond syndrome in a child presenting with cystic fibrosis-type symptoms and a false-positive sweat test. (18607018)
2008
25
Shwachman-Diamond syndrome is associated with structural brain alterations on MRI. (18478597)
2008
26
Shwachman-Diamond syndrome presenting in a premature infant as pancytopenia. (18322927)
2008
27
Substitution of cyclophosphamide and busulfan by fludarabine, treosulfan and melphalan in a preparative regimen for children and adolescents with Shwachman-Diamond syndrome. (17211437)
2007
28
Bacteremia caused by Rothia mucilaginosa in a patient with Shwachman-Diamond syndrome. (17565469)
2007
29
Severe Shwachman-Diamond syndrome phenotype caused by compound heterozygous missense mutations in the SBDS gene. (17046571)
2006
30
Shwachman-Diamond syndrome: UK perspective. (16714727)
2006
31
Structural and mutational analysis of the SBDS protein family. Insight into the leukemia-associated Shwachman-Diamond Syndrome. (15701631)
2005
32
Successful unrelated donor bone marrow transplantation for Shwachman-Diamond syndrome with leukemia. (15005350)
2004
33
Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome. (14749921)
2004
34
Lithium effects on neutrophil motility in Shwachman-Diamond syndrome: evaluation by computer-assisted image analysis. (14531925)
2003
35
Shwachman-Diamond syndrome with late-onset neutropenia and fatal acute myeloid leukaemia without maturation: a case report. (14667205)
2003
36
Bone marrow transplantation in Shwachman-Diamond syndrome. (12203143)
2002
37
Allogeneic bone marrow transplantation in Shwachman-Diamond syndrome with malignant myeloid transformation. A case report. (12298432)
2002
38
Abnormal telomere shortening in leucocytes of children with Shwachman-Diamond syndrome. (11918553)
2002
39
Shwachman-Diamond syndrome marrow cells show abnormally increased apoptosis mediated through the Fas pathway. (11342425)
2001
40
Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7. (11254457)
2001
41
Special feature: pathological case of the month. Shwachman-Diamond syndrome: a syndrome of pancreatic insufficiency and bone marrow dysfunction. (11343509)
2001
42
Pregnancy in bone marrow failure syndromes: Diamond-Blackfan anaemia and Shwachman-Diamond syndrome. (10520024)
1999
43
Adult onset of acute myeloid leukaemia (M6) in patients with Shwachman-Diamond syndrome. (9359520)
1997
44
Shwachman-Diamond syndrome and matched unrelated donor BMT. (8547872)
1995
45
Shwachman-Diamond syndrome: clinical, radiological and sonographic findings. (7567263)
1995
46
Shwachman-Diamond Syndrome (20301722)
1993
47
Sinusitis and bacteremia caused by Flavobacterium meningosepticum in a sixteen-year-old with Shwachman Diamond syndrome. (1630865)
1992
48
Fatal cyclophosphamide-induced congestive heart failure in a 10-year-old boy with Shwachman-Diamond syndrome and severe bone marrow failure treated with allogeneic bone marrow transplantation. (2285129)
1990
49
Pancreatic lipomatosis in the Shwachman-Diamond syndrome. Identification by sonography and CT-scan. (3897999)
1985
50
Impaired neutrophil kinesis in a patient with the Shwachman-Diamond syndrome. (687246)
1978

Variations for Shwachman-Diamond Syndrome

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Shwachman-Diamond Syndrome:

64
id Symbol AA change Variation ID SNP ID
1SBDSp.Asn8LysVAR_015390rs28942099
2SBDSp.Glu44GlyVAR_015391
3SBDSp.Lys67GluVAR_015392
4SBDSp.Ile87SerVAR_015393
5SBDSp.Arg126ThrVAR_015394
6SBDSp.Arg169CysVAR_015395
7SBDSp.Ile212ThrVAR_015396rs79344818

Clinvar genetic disease variations for Shwachman-Diamond Syndrome:

1 (show all 11)
id Gene Name Type Significance SNP ID Assembly Location
1SBDSNM_016038.2(SBDS): c.119delG (p.Ser41Alafs)deletionPathogenicrs113993990GRCh37Chr 7, 66460286: 66460286
2SBDSNM_016038.2(SBDS): c.258+1G> Csingle nucleotide variantPathogenicrs113993992GRCh37Chr 7, 66459198: 66459198
3SBDSNM_016038.2(SBDS): c.297_300delAAGA (p.Glu99Aspfs)deletionPathogenicrs113993994GRCh37Chr 7, 66458363: 66458366
4SBDSNM_016038.2(SBDS): c.377G> C (p.Arg126Thr)single nucleotide variantPathogenicrs113993995GRCh37Chr 7, 66458286: 66458286
5SBDSNM_016038.2(SBDS): c.505C> T (p.Arg169Cys)single nucleotide variantPathogenicrs113993996GRCh37Chr 7, 66456243: 66456243
6SBDSNM_016038.2(SBDS): c.624+1G> Csingle nucleotide variantPathogenicrs113993997GRCh37Chr 7, 66456123: 66456123
7SBDSNM_016038.2(SBDS): c.652C> T (p.Arg218Ter)single nucleotide variantPathogenicrs113993998GRCh37Chr 7, 66453459: 66453459
8SBDSNM_016038.2(SBDS): c.183_184delTAinsCT (p.Lys62Ter)indelPathogenicrs113993991GRCh37Chr 7, 66459274: 66459274
9SBDSNM_016038.2(SBDS): c.258+2T> Csingle nucleotide variantPathogenic, risk factorrs113993993GRCh37Chr 7, 66459197: 66459197
10SBDSNM_016038.2(SBDS): c.24C> A (p.Asn8Lys)single nucleotide variantPathogenicrs28942099GRCh37Chr 7, 66460381: 66460381
11SBDSSBDS, 1-BP INS, 96AinsertionPathogenic

Expression for genes affiliated with Shwachman-Diamond Syndrome

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Shwachman-Diamond Syndrome

Search GEO for disease gene expression data for Shwachman-Diamond Syndrome.

Pathways for genes affiliated with Shwachman-Diamond Syndrome

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50PathCards, 38NCBI BioSystems Database, 30KEGG
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Pathways related to Shwachman-Diamond Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8NPM1, VEGFA
29.2EIF6, SBDS, EFTUD1

Compounds for genes affiliated with Shwachman-Diamond Syndrome

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45Novoseek, 61Tocris Bioscience, 51PharmGKB, 11DrugBank, 29IUPHAR, 3BitterDB, 24HMDB
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Compounds related to Shwachman-Diamond Syndrome according to GeneCards/GeneDecks:

(show all 14)
idCompoundScoreTop Affiliating Genes
1zoledronic acid4510.0TNFRSF11B, VEGFA
2ns 39845 6110.9TNFRSF11B, VEGFA
3infliximab45 51 1111.8VEGFA, TNFRSF11B
4sb 20358045 6110.7VEGFA, TNFRSF11B, FPR1
5vegf459.2EIF6, TNFRSF11B, VEGFA, FPR1
6gtp45 2910.0KMT2A, NPM1, ARHGEF12, FPR1
7actinomycin d458.9VEGFA, KMT2A, NPM1
8genistein45 29 61 3 24 1113.9FPR1, KMT2A, VEGFA, TNFRSF11B
9threonine458.9SDS, FPR1, KMT2A, NPM1
10doxorubicin45 51 1110.9VEGFA, KMT2A, TNFRSF11B, NPM1
11atp45 299.7NPM1, FPR1, KMT2A, TNFRSF11B
12estrogen458.5NPM1, KMT2A, TNFRSF11B, VEGFA
13retinoic acid45 249.4KMT2A, FPR1, NPM1, TNFRSF11B
14tyrosine457.2EIF6, VEGFA, TNFRSF11B, TPST1, KMT2A, FPR1

GO Terms for genes affiliated with Shwachman-Diamond Syndrome

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16Gene Ontology
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Cellular components related to Shwachman-Diamond Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmGO:0057377.7ARHGEF12, NPM1, EIF6, SBDS, KMT2A, SDS

Biological processes related to Shwachman-Diamond Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mature ribosome assemblyGO:0422569.2EIF6, SBDS, EFTUD1

Molecular functions related to Shwachman-Diamond Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ribosome bindingGO:0430228.9EIF6, SBDS, EFTUD1
2protein homodimerization activityGO:0428038.7NPM1, KMT2A, SDS, VEGFA

Products for genes affiliated with Shwachman-Diamond Syndrome

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Sources for Shwachman-Diamond Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet