BDA
MCID: DMN001
MIFTS: 59

Diamond-Blackfan Anemia (BDA) malady

Genetic diseases, Rare diseases, Blood diseases, Neuronal diseases, Endocrine diseases, Eye diseases, Fetal diseases, Cancer diseases categories
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Summaries for Diamond-Blackfan Anemia

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Sources:
8Disease Ontology, 43NIH Rare Diseases, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 Diamond blackfan anemia is a genetic blood disorder that is usually diagnosed during the first year of life.anemia results from the failure of the bone marrow to produce red blood cells, the cells that carry oxygen throughout the body. individuals with diamond blackfan anemia may also have physical abnormalities of the face head, upper limbs, hands (mostly involving the thumbs), genitalia, urinary tract, and heart. some affected individuals also have short stature.  the cause of diamond blackfan anemia is often unknown. about 45% of people with diamond blackfan anemia inherit this condition from a parent. treatment may involve corticosteroids, blood transfusions, a bone marrow transplant or stem cell transplantation.     last updated: 2/1/2011

MalaCards: Diamond-Blackfan Anemia, also known as anemia diamond blackfan type, is related to diamond-blackfan anemia 1 and aplastic anemia. An important gene associated with Diamond-Blackfan Anemia is RPS7 (ribosomal protein S7), and among its related pathways are p53 Pathway and Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S. The compound rrna have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and heart.

Disease Ontology:8 A congenital hypoplastic anemia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has material basis insufficent levels of red blood cells due to bone marrow dysfunction.

Description from OMIM:47 612563, 613308, 612528, 612562, 105650 610629, 613309, 612561, 612527 more

GeneReviews summary for diamond-b

Aliases & Classifications for Diamond-Blackfan Anemia

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Sources:
8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 31LifeMap Discovery™, 62UMLS, 47OMIM, 40NCIt, 58SNOMED-CT, 35MeSH
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Classifications:



Aliases & Descriptions:

diamond-blackfan anemia 8 19 43 21 10 45 31
anemia diamond blackfan type 43 20 22
congenital pure red cell aplasia 21 45
erythrogenesis imperfecta 43 21
anemia, diamond-blackfan 8 62
aase syndrome 21 62
dba 43 21
bds 43 21
congenital hypoplastic anemia of blackfan and diamond 21
congenital hypoplastic anemia of blackfandiamond 19
chronic constitutional pure red cell anaemia 8
chronic constitutional pure red cell aplasia 8
decreased erythroid precursor production 62
congenital erythroid hypoplastic anemia 21
anemia congenital erythroid hypoplastic 43
aregenerative anemia chronic congenital 43
chronic congenital agenerative anemia 21
red cell aplasia, pure hereditary 43
pure hereditary red cell aplasia 21
congenital pure red cell anemia 21
hypoplastic congenital anemia 21
congenital hypoplastic anemia 43
anemia hypoplastic congenital 45
inherited erythroblastopenia 21
blackfan - diamond syndrome 8
blackfan diamond syndrome 43
blackfan-diamond syndrome 21
blackfan-diamond disease 21
blackfan diamond anemia 21
aase-smith syndrome ii 21
bda 21


External Ids:

Disease Ontology8 DOID:1339
NCIt40 C61236
MeSH35 D029503

Related Diseases for Diamond-Blackfan Anemia

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Diamond-Blackfan Anemia 1 family:

diamond-blackfan anemia Diamond-Blackfan Anemia 2
Diamond-Blackfan Anemia 3 Rps19-Related Diamond-Blackfan Anemia
Rps24-Related Diamond-Blackfan Anemia Rps17-Related Diamond-Blackfan Anemia
Rpl35a-Related Diamond-Blackfan Anemia Rpl5-Related Diamond-Blackfan Anemia
Rpl11-Related Diamond-Blackfan Anemia Rps7-Related Diamond-Blackfan Anemia
Rps26-Related Diamond-Blackfan Anemia Rps10-Related Diamond-Blackfan Anemia
Rpl26-Related Diamond-Blackfan Anemia Gata1-Related Diamond-Blackfan Anemia
Diamond-Blackfan Anemia 7 Diamond-Blackfan Anemia 6
Diamond-Blackfan Anemia 8 Diamond-Blackfan Anemia 12
Diamond-Blackfan Anemia 5 Diamond-Blackfan Anemia 9
Diamond-Blackfan Anemia 10 Diamond-Blackfan Anemia 4
Diamond-Blackfan Anemia 11

Diseases related to Diamond-Blackfan Anemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 90)
idRelated DiseaseScoreTop Affiliating Genes
1diamond-blackfan anemia 131.1RPS19
2aplastic anemia30.1RPL11, RPS26, RPL5, RPS17, RPL35A, RPS24
3diamond-blackfan anemia 310.7
4cleft palate10.6
5hydrops fetalis10.6
6diamond-blackfan anemia 710.6
7diamond-blackfan anemia 610.6
8diamond-blackfan anemia 810.6
9diamond-blackfan anemia 510.6
10diamond-blackfan anemia 910.6
11diamond-blackfan anemia 410.6
12diamond-blackfan anemia 1110.6
13sarcoma10.5
145q- syndrome10.5
15diamond-blackfan anemia 210.5
16rps19-related diamond-blackfan anemia10.5
17rps17-related diamond-blackfan anemia10.5
18rpl35a-related diamond-blackfan anemia10.5
19rpl11-related diamond-blackfan anemia10.5
20rps7-related diamond-blackfan anemia10.5
21rps26-related diamond-blackfan anemia10.5
22rps10-related diamond-blackfan anemia10.5
23diamond-blackfan anemia 1210.5
24hematopoietic stem cell transplantation10.5
25hemochromatosis10.5
26klippel-feil syndrome10.5
27thalassemia10.5
28shwachman-diamond syndrome10.5
29rps24-related diamond-blackfan anemia10.5
30rpl5-related diamond-blackfan anemia10.5
31rpl26-related diamond-blackfan anemia10.5
32gata1-related diamond-blackfan anemia10.5
33diamond-blackfan anemia 1010.5
34cardiac tamponade10.3
35treacher collins syndrome10.3
36duchenne muscular dystrophy10.3
37cartilage-hair hypoplasia10.3
38beta thalassemia10.3
39johanson-blizzard syndrome10.3
40congenital hypoplastic anemia10.3
41dysostosis10.3
42exotropia10.3
43hodgkin's lymphoma10.3
44leukemia10.3
45muscular dystrophy10.3
46pneumonia10.3
47pulmonary embolism10.3
48microtia10.3
49hypotonia10.3
50short stature10.3

Graphical network of the top 20 diseases related to Diamond-Blackfan Anemia:



Diseases related to diamond-blackfan anemia

Symptoms for Diamond-Blackfan Anemia

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Sources:
47OMIM
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Clinical features from OMIM:

612563,613308,612528,612562,105650,610629,613309,612561,612527

Drugs & Therapeutics for Diamond-Blackfan Anemia

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

Search ClinicalTrials for Diamond-Blackfan Anemia

Search NIH Clinical Center for Diamond-Blackfan Anemia

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Diamond-Blackfan Anemia cell therapies at LifeMap Discovery.

Genetic Tests for Diamond-Blackfan Anemia

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Sources:
20GeneTests, 22GTR
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Genetic tests related to Diamond-Blackfan Anemia:

id Genetic test Affiliating Genes
1 Diamond-Blackfan Anemia20 22 RPS7
2 Diamond-Blackfan Anemia Multi-Gene Panels20

Anatomical Context for Diamond-Blackfan Anemia

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33MalaCards
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MalaCards organs/tissues related to Diamond-Blackfan Anemia:

33
Bone, Bone marrow, Heart, T cells

Animal Models for Diamond-Blackfan Anemia or affiliated genes

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Publications for Diamond-Blackfan Anemia

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Sources:
52PubMed
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Articles related to Diamond-Blackfan Anemia:

(show top 50)    (show all 242)
idTitleAuthorsYear
1
Nucleolar stress in Diamond Blackfan anemia pathophysiology. (24412987)
2014
2
Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. (23812780)
2013
3
Transcription factors Fli1 and EKLF in the differentiation of megakaryocytic and erythroid progenitor in 5q- syndrome and in Diamond-Blackfan anemia. (22965552)
2013
4
Using induced human pluripotent stem cells to study Diamond-Blackfan anemia: an outlook on the clinical possibilities. (24219546)
2013
5
First de novo mutation in RPS19 gene as the cause of hydrops fetalis in Diamond-Blackfan anemia. (23349008)
2013
6
Ribosomal and hematopoietic defects in induced pluripotent stem cells derived from Diamond Blackfan anemia patients. (23744582)
2013
7
Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia. (22431104)
2012
8
Hemin augments growth and hemoglobinization of erythroid precursors from patients with diamond-blackfan anemia. (22655180)
2012
9
The Czech National Diamond-Blackfan Anemia Registry: clinical data and ribosomal protein mutations update. (22381658)
2012
10
Clinical utility gene card for: Diamond Blackfan anemia. (21248735)
2011
11
Successful bone marrow transplantation in a patient with Diamond-Blackfan anemia with co-existing Duchenne muscular dystrophy: a case report. (21639928)
2011
12
Untangling the phenotypic heterogeneity of Diamond Blackfan anemia. (21435509)
2011
13
Non-Diamond Blackfan anemia disorders of ribosome function: Shwachman Diamond syndrome and 5q- syndrome. (21435510)
2011
14
Molecular pathogenesis in Diamond-Blackfan anemia. (20882441)
2010
15
Successful allogeneic bone marrow transplantation for diamond-blackfan anemia complicated by severe cardiac dysfunction due to transfusion-induced hemochromatosis. (20190482)
2010
16
Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia. (20378560)
2010
17
Anesthetic management in a child with Diamond-Blackfan anemia. (18312511)
2008
18
Enhanced alternative splicing of the FLVCR1 gene in Diamond Blackfan anemia disrupts FLVCR1 expression and function that are critical for erythropoiesis. (18815190)
2008
19
Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder. (18230666)
2008
20
Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits. (16990592)
2007
21
Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia. (17647292)
2007
22
Cells depleted for RPS19, a protein associated with Diamond Blackfan Anemia, show defects in 18S ribosomal RNA synthesis and small ribosomal subunit production. (17376718)
2007
23
Identification of a new in-frame deletion of six amino acids in ribosomal protein S19 in a patient with Diamond-Blackfan anemia. (16531079)
2006
24
Diamond-Blackfan anemia: clinical features and treatment results in 4 cases. (17325961)
2006
25
Reduced gene expression of clustered ribosomal proteins in Diamond-Blackfan anemia patients without RPS19 gene mutations. (16794503)
2006
26
Specific Role for Yeast Homologs of the Diamond Blackfan Anemia-associated Rps19 Protein in Ribosome Synthesis. (16159874)
2005
27
An RNA interference model of RPS19 deficiency in Diamond-Blackfan anemia recapitulates defective hematopoiesis and rescue by dexamethasone: identification of dexamethasone-responsive genes by microarray. (15755903)
2005
28
Development of cellular models for ribosomal protein S19 (RPS19)-deficient diamond-blackfan anemia using inducible expression of siRNA against RPS19. (15771965)
2005
29
Postmortem diagnosis of Diamond-Blackfan anemia. (15591911)
2004
30
Ten novel Diamond-Blackfan anemia mutations and three polymorphisms within the rps19 gene. (12750732)
2003
31
Sustained cyclosporine-induced erythropoietic response in identical male twins with diamond-blackfan anemia. (14608205)
2003
32
Pneumocystis carinii pneumonia in patients with Diamond-Blackfan anemia receiving high-dose corticosteroids. (12142794)
2002
33
Study of 22 Egyptian patients with Diamond-Blackfan anemia, corticosteroids, and cyclosporin therapy results. (12359817)
2002
34
Successful immunization following cord blood transplantation in a child with Diamond-Blackfan anemia. (11293287)
2001
35
The Diamond Blackfan Anemia Registry: tool for investigating the epidemiology and biology of Diamond-Blackfan anemia. (11563775)
2001
36
Diamond-Blackfan anemia. (10698294)
2000
37
Diamond-blackfan anemia and cyclosporine therapy revisited. (10779036)
2000
38
Diamond-Blackfan anemia and midline defects. (11037867)
2000
39
Ribosomal protein S19 gene mutations in patients with diamond-blackfan anemia and identification of ribosomal protein S19 pseudogenes. (10753603)
2000
40
Identification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneity. (9792865)
1998
41
Diamond-Blackfan anemia: expansion of erythroid progenitors in vitro by IL-9, but exclusion of a significant pathogenetic role for the IL-9 gene and the hematopoietic gene cluster on chromosome 5q. (9357971)
1997
42
Successful hematopoietic reconstitution by transplantation of umbilical cord blood cells in a transfusion-dependent child with Diamond-Blackfan anemia. (9012937)
1997
43
Diamond-blackfan anemia in pregnancy. (8159364)
1994
44
Oral megadose methylprednisolone for the treatment of Diamond-Blackfan anemia. (7880310)
1994
45
Megadose methylprednisolone for Diamond-Blackfan anemia. (8438909)
1993
46
Diamond-Blackfan anemia associated with Treacher-Collins syndrome. (8217543)
1993
47
Lack of effect of corticosteroids in W/Wv and S1/S1d mice: these strains are not a model for steroid-responsive Diamond-Blackfan anemia. (7686505)
1993
48
Diamond-Blackfan anemia: heterogenous response of hematopoietic progenitor cells in vitro to the protein product of the steel locus. (1718489)
1991
49
Diamond-Blackfan anemia: promotion of marrow erythropoiesis in vitro by recombinant interleukin-3. (2649168)
1989
50
Erythroid precursors in congenital hypoplastic (Diamond-Blackfan) anemia. (621285)
1978

Variations for Diamond-Blackfan Anemia

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Diamond-Blackfan Anemia:

1
id Gene Name Type Significance SNP ID Assembly Location
1NM_000969.3(RPL5): c.244G> T (p.Glu82Ter)single nucleotide variantPathogenic/card/diamond_blackfan_anemiaGRCh37Chr 1, 93300390: 93300390
2NM_000969.3(RPL5): c.664C> T (p.Gln222Ter)single nucleotide variantPathogenic/card/diamond_blackfan_anemiaGRCh37Chr 1, 93303149: 93303149
3NM_000969.3(RPL5): c.67C> T (p.Arg23Ter)single nucleotide variantPathogenicrs121434405GRCh37Chr 1, 93299009: 93299009
4NM_000969.3(RPL5): c.418G> A (p.Gly140Ser)single nucleotide variantPathogenicrs121434406GRCh37Chr 1, 93301840: 93301840

Expression for genes affiliated with Diamond-Blackfan Anemia

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

Search GEO for disease gene expression data for Diamond-Blackfan Anemia.

Pathways for genes affiliated with Diamond-Blackfan Anemia

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Sources:
50PathCards, 57SinoBiological, 38NCBI BioSystems Database, 55Reactome, 30KEGG, 60Thomson Reuters
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Pathways related to Diamond-Blackfan Anemia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
p53 pathway38
9.1RPL11, RPL5
2
Show member pathways
8.2RPS24, RPS17, RPS7, RPS26, RPS19
3
Show member pathways
6.4RPL11, RPS24, RPL35A, RPS17, RPS19, RPL5
46.4RPL35A, RPS17, RPS24, RPS7, RPS19, RPS26
5
Show member pathways
6.4RPL11, RPS24, RPL35A, RPS17, RPS19, RPL5
6
Show member pathways
6.4RPS26, RPS19, RPL5, RPS17, RPL35A, RPS24
7
Show member pathways
Cytoplasmic Ribosomal Proteins38
6.4RPS7, RPL5, RPS19, RPS17, RPL35A, RPS24

Compounds for genes affiliated with Diamond-Blackfan Anemia

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45Novoseek
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Compounds related to Diamond-Blackfan Anemia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1rrna458.8RPL11, RPS19, RPL5

GO Terms for genes affiliated with Diamond-Blackfan Anemia

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16Gene Ontology
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Cellular components related to Diamond-Blackfan Anemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ribonucleoprotein complexGO:0305299.6RPL5, RPS7
2small ribosomal subunitGO:0159359.2RPS24, RPS26
3ribosomeGO:0058409.1RPS17, RPS19, RPS7
4cytosolic large ribosomal subunitGO:0226258.8RPL5, RPL35A, RPL11
5cytosolic small ribosomal subunitGO:0226278.4RPS24, RPS17, RPS19, RPS7, RPS26
6extracellular vesicular exosomeGO:0700627.7RPS26, RPL5, RPS19, RPL35A, RPL11
7nucleolusGO:0057307.5RPS26, RPS7, RPL5, RPS19, RPS24, RPL11
8cytosolGO:0058296.6RPS26, RPS7, RPL5, RPS19, RPS17, RPL35A

Biological processes related to Diamond-Blackfan Anemia according to GeneCards/GeneDecks:

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)GO:0004629.6RPS19, RPS24
2erythrocyte homeostasisGO:0341019.4RPS24, RPS17
3ribosomal small subunit assemblyGO:0000289.2RPS17, RPS19
4ribosomal small subunit biogenesisGO:0422748.8RPS7, RPS19, RPS17, RPS24
5ribosomal large subunit biogenesisGO:0422738.7RPL11, RPL35A, RPL5
6rRNA processingGO:0063647.2RPL11, RPS24, RPL35A, RPS17, RPS19, RPL5
7SRP-dependent cotranslational protein targeting to membraneGO:0066146.7RPS19, RPL5, RPS7, RPS26, RPS17, RPL11
8mRNA metabolic processGO:0160716.7RPL11, RPS24, RPL35A, RPS17, RPS19, RPL5
9RNA metabolic processGO:0160706.7RPS26, RPS7, RPL5, RPL11, RPS24, RPL35A
10viral life cycleGO:0190586.7RPL11, RPS24, RPL35A, RPS17, RPS19, RPL5
11viral transcriptionGO:0190836.7RPS7, RPS26, RPL5, RPS19, RPS17, RPL11
12nuclear-transcribed mRNA catabolic process, nonsense-mediated decayGO:0001846.7RPL11, RPS24, RPL35A, RPS17, RPS19, RPL5
13translationGO:0064126.7RPS19, RPL5, RPS7, RPS26, RPS17, RPL35A
14translational initiationGO:0064136.6RPL11, RPS24, RPL35A, RPS17, RPS19, RPL5
15translational terminationGO:0064156.6RPL35A, RPS17, RPS19, RPL5, RPS7, RPS26
16translational elongationGO:0064146.6RPL11, RPS24, RPL35A, RPS17, RPS19, RPL5
17cellular protein metabolic processGO:0442676.6RPS26, RPS7, RPL5, RPS19, RPS17, RPL35A
18viral processGO:0160326.6RPS26, RPS7, RPL5, RPS19, RPS17, RPL35A
19gene expressionGO:0104676.5RPS26, RPS7, RPL5, RPS19, RPS17, RPL35A

Molecular functions related to Diamond-Blackfan Anemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1RNA bindingGO:0037238.8RPL11, RPL5, RPS7
2structural constituent of ribosomeGO:0037356.3RPL11, RPS26, RPS7, RPL5, RPS19, RPS17
3poly(A) RNA bindingGO:0448226.1RPS26, RPS7, RPL5, RPS19, RPS17, RPL35A

Products for genes affiliated with Diamond-Blackfan Anemia

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Sources for Diamond-Blackfan Anemia

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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