BDA
MCID: DMN001
MIFTS: 61

Diamond-Blackfan Anemia (BDA) malady

Summaries for Diamond-Blackfan Anemia

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8Disease Ontology, 42NIH Rare Diseases, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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 deficiency anemia and diamond-blackfan anemia 1. An important gene associated with Diamond-Blackfan Anemia is RPS7 (ribosomal protein S7), and among its related pathways are Hematopoietic cell lineage and Translation initiation complex formation. The compounds pkh 2 and daniplestim have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone 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:46 612528, 613309, 612562, 612563, 612561 613308, 610629, 612527, 105650 more

GeneReviews summary for diamond-b

Aliases & Classifications for Diamond-Blackfan Anemia

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Sources:
8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 30LifeMap Discovery™, 60UMLS, 46OMIM, 56SNOMED-CT, 39NCIt, 34MeSH
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Aliases & Descriptions:

diamond-blackfan anemia 8 19 42 21 10 44 30
anemia diamond blackfan type 42 20 22
congenital pure red cell aplasia 21 44
anemia, diamond-blackfan 8 60
aase syndrome 21 60
bds 42 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 60
aregenerative anemia chronic congenital 42
anemia congenital erythroid hypoplastic 42
congenital erythroid hypoplastic anemia 21
chronic congenital agenerative anemia 21
pure hereditary red cell aplasia 21
congenital pure red cell anemia 21
hypoplastic congenital anemia 21
anemia hypoplastic congenital 44
inherited erythroblastopenia 21
blackfan - diamond syndrome 8
blackfan-diamond syndrome 21
blackfan diamond syndrome 42
erythrogenesis imperfecta 21
blackfan-diamond disease 21
blackfan diamond anemia 21
aase-smith syndrome ii 21
bd syndrome 42
dba 21
bda 21


External Ids:

Disease Ontology8 DOID:1339
NCIt39 C61236
MeSH34 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 103)
idRelated DiseaseScoreTop Affiliating Genes
1deficiency anemia31.3THPO, KITLG, IL3, EPO, RPS19
2diamond-blackfan anemia 131.0RPS19, RPS7, RPL5, THPO, KITLG, IL3
3aplastic anemia30.6RPS19, EPO, IL3, KITLG, THPO
4klippel-feil syndrome30.6RPS26P6, RPS26
5transient erythroblastopenia of childhood30.4EPO, KITLG
6fanconi's anemia30.3THPO, KITLG, IL3
7congenital hypoplastic anemia10.7
8diamond-blackfan anemia 310.6
9cleft palate10.6
10diamond-blackfan anemia 710.6
11diamond-blackfan anemia 610.6
12diamond-blackfan anemia 810.6
13diamond-blackfan anemia 510.6
14diamond-blackfan anemia 910.6
15diamond-blackfan anemia 410.6
16diamond-blackfan anemia 1110.6
17sarcoma10.5
18diamond-blackfan anemia 210.5
19rps19-related diamond-blackfan anemia10.5
20rps17-related diamond-blackfan anemia10.5
21rpl35a-related diamond-blackfan anemia10.5
22rpl11-related diamond-blackfan anemia10.5
23rps7-related diamond-blackfan anemia10.5
24rps26-related diamond-blackfan anemia10.5
25rps10-related diamond-blackfan anemia10.5
26diamond-blackfan anemia 1210.5
27hemochromatosis10.4
28thalassemia10.4
29shwachman-diamond syndrome10.4
30rps24-related diamond-blackfan anemia10.4
31rpl5-related diamond-blackfan anemia10.4
32rpl26-related diamond-blackfan anemia10.4
33gata1-related diamond-blackfan anemia10.4
34diamond-blackfan anemia 1010.4
35johanson-blizzard syndrome10.3
36cardiac tamponade10.3
37treacher collins syndrome10.3
38cartilage-hair hypoplasia10.3
39beta thalassemia10.3
40duchenne muscular dystrophy10.3
41acute leukemia10.3
42chromosomal disease10.3
43dysostosis10.3
44exotropia10.3
45hodgkin's lymphoma10.3
46leukemia10.3
47muscular dystrophy10.3
48neonatal anemia10.3
49pneumonia10.3
50pulmonary embolism10.3

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



Diseases related to diamond-blackfan anemia

Clinical Features for Diamond-Blackfan Anemia

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Sources:
46OMIM
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Clinical features from OMIM:

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

Drugs & Therapeutics for Diamond-Blackfan Anemia

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

Approved drugs:

Search CenterWatch for Diamond-Blackfan Anemia

Drug clinical trials:

Search ClinicalTrials for Diamond-Blackfan Anemia

Search NIH Clinical Center for Diamond-Blackfan Anemia

Search CenterWatch 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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Sources:
32MalaCards
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MalaCards organs/tissues related to Diamond-Blackfan Anemia:

32
Bone marrow, Bone, 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:
50PubMed
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Articles related to Diamond-Blackfan Anemia:

(show top 50)    (show all 250)
idTitleAuthorsYear
1
Nucleolar stress in Diamond Blackfan anemia pathophysiology. (24412987)
2014
2
Diamond blackfan anemia: a tertiary care center experience. (23795277)
2013
3
Correction: Transcriptome Analysis of the Zebrafish Model of Diamond-Blackfan Anemia from RPS19 Deficiency via p53-Dependent and -Independent Pathways. (23990864)
2013
4
Clinical utility gene card for: Diamond-Blackfan anemia--update 2013. (23463023)
2013
5
The Czech National Diamond-Blackfan Anemia Registry: clinical data and ribosomal protein mutations update. (22381658)
2012
6
Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry. (22362038)
2012
7
The spectrum of non-classical Diamond-Blackfan anemia: a case of late beginning transfusion dependency associated to a new RPL5 mutation. (22803003)
2012
8
Dietary L-leucine improves the anemia in a mouse model for Diamond-Blackfan anemia. (22791294)
2012
9
Clinical utility gene card for: Diamond Blackfan anemia. (21248735)
2011
10
Oral and dental manifestations of diamond-blackfan anemia: case reports. (21769279)
2011
11
Diamond Blackfan anemia treatment: past, present, and future. (21435508)
2011
12
Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia. (20378560)
2010
13
Diamond-Blackfan anemia, ribosome and erythropoiesis. (20655265)
2010
14
Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia. (20116044)
2010
15
Normalization of red cell enolase level following allogeneic bone marrow transplantation in a child with Diamond-Blackfan anemia. (20358009)
2010
16
Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond- Blackfan anemia. (19191325)
2009
17
Ribosomal protein S19 deficiency leads to reduced proliferation and increased apoptosis but does not affect terminal erythroid differentiation in a cell line model of Diamond-Blackfan anemia. (17962699)
2008
18
Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits. (16990592)
2007
19
Molecular basis of Diamond-Blackfan anemia: structure and function analysis of RPS19. (17726054)
2007
20
Reduced gene expression of clustered ribosomal proteins in Diamond-Blackfan anemia patients without RPS19 gene mutations. (16794503)
2006
21
Diamond-Blackfan anemia in remission for 2 years on valproic acid. (16785135)
2006
22
Diamond blackfan anemia: New paradigms for a "not so pure" inherited red cell aplasia. (16822459)
2006
23
Translational efficiency in patients with Diamond-Blackfan anemia. (17082006)
2006
24
Diamond-Blackfan anemia associated with beta-thalassemia trait. (16493623)
2006
25
Diamond-blackfan anemia and growth status: the French registry. (16291361)
2005
26
Successful treatment of Diamond-Blackfan anemia with metoclopramide. (15795909)
2005
27
Molecular diagnosis of Diamond-Blackfan anemia. (14573927)
2004
28
Ten novel Diamond-Blackfan anemia mutations and three polymorphisms within the rps19 gene. (12750732)
2003
29
The Diamond Blackfan Anemia Registry: tool for investigating the epidemiology and biology of Diamond-Blackfan anemia. (11563775)
2001
30
Diamond-Blackfan anemia. (11176237)
2001
31
Oral megadose methylprednisolone therapy for refractory Diamond-Blackfan anemia. International Diamond-Blackfan Anemia Study Group. (11563769)
2001
32
Diamond-blackfan anemia and cyclosporine therapy revisited. (10779036)
2000
33
Diamond-Blackfan anemia and midline defects. (11037867)
2000
34
Epstein-Barr virus-associated lymphoproliferative disease after a cord blood transplant for Diamond-Blackfan anemia. (10673683)
2000
35
Elevation of the serum Fas ligand in patients with hemophagocytic syndrome and Diamond-Blackfan anemia. (9531589)
1998
36
Cord blood stem cell transplantation for Diamond-Blackfan anemia. (9052920)
1997
37
Transient erythrophagocytosis in Diamond-Blackfan anemia. (9363662)
1997
38
Diamond-Blackfan anemia and malignancy. A case report and a review of the literature. (8625135)
1995
39
Diamond-blackfan anemia in pregnancy. (8159364)
1994
40
Erythroid failure in Diamond-Blackfan anemia is characterized by apoptosis. (8298126)
1994
41
Malignant tumors in two patients with Diamond-Blackfan anemia treated with corticosteroids and androgens. (7947015)
1994
42
Megadose methylprednisolone for Diamond-Blackfan anemia. (8438909)
1993
43
Diamond-Blackfan anemia associated with Treacher-Collins syndrome. (8217543)
1993
44
Successful treatment of Diamond-Blackfan anemia with interleukin 3. (7691318)
1993
45
Cyclosporin A treatment for Diamond-Blackfan anemia. (1546717)
1992
46
Diamond-Blackfan anemia: heterogenous response of hematopoietic progenitor cells in vitro to the protein product of the steel locus. (1718489)
1991
47
Effect of cellular and humoral factors on hematopoietic stem cells in a patient with Diamond-Blackfan anemia. (2418617)
1985
48
Congenital hypoplastic anemia (Diamond-Blackfan syndrome). (6211527)
1982
49
Cartilage-hair hypoplasia, defective T-cell function, and Diamond-Blackfan anemia in an Amish child. (6972168)
1981
50
Congenital hypoplastic anemia (Diamond-Blackfan syndrome) terminating in acute myelogenous leukemia. (273451)
1978

Genetic Variations for Diamond-Blackfan Anemia

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Expression for genes affiliated with Diamond-Blackfan Anemia

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Sources:
1BioGPS, 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:
29KEGG, 53Reactome, 37NCBI BioSystems Database
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Pathways related to Diamond-Blackfan Anemia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.3THPO, KITLG, IL3, EPO
2
Hide members
10.3RPS26, RPS19, RPS7, RPS17, RPS10, RPS24
310.2RPS24, RPS26, RPS19, RPS7, RPL5, RPS17
4
Hide members
10.2RPS26, RPS19, RPS7, RPL5, RPS17, RPL11
5
Hide members
10.2RPS26, RPS19, RPS7, RPL5, RPS17, RPL11
6
Hide members
10.2RPS26, RPS19, RPS7, RPL5, RPS17, RPL11
7
Hide members
10.2RPS26, RPS19, RPS7, RPL5, RPS17, RPL11

Compounds for genes affiliated with Diamond-Blackfan Anemia

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Sources:
44Novoseek, 11DrugBank, 28IUPHAR, 49PharmGKB, 59Tocris Bioscience, 2BitterDB
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Compounds related to Diamond-Blackfan Anemia according to GeneCards/GeneDecks:

(show all 32)
idCompoundScoreTop Affiliating Genes
1pkh 24410.7KITLG, IL3
2daniplestim4410.7KITLG, IL3
3mafosfamide4410.7THPO, KITLG, IL3
4rrna4410.7RPS19, RPL5, RPL11
5pixy3214410.7THPO, KITLG, IL3, EPO
6carboxymethylcellulose4410.7EPO, KITLG
7amifostine44 1111.7EPO, IL3, KITLG, THPO
8filgrastim44 1111.7THPO, KITLG, IL3, EPO
9pyronin y4410.7KITLG, THPO
10gm-csf44 2811.7EPO, IL3, KITLG, THPO
11methylcellulose4410.7EPO, IL3, KITLG, THPO
12pegfilgrastim44 1111.7IL3, EPO
13carboplatin44 49 1112.7EPO, IL3, KITLG, THPO
14hydroxyurea44 49 1112.7THPO, KITLG, IL3, EPO
15gp 1304410.7EPO, IL3, KITLG, THPO
16cytarabine44 49 1112.7EPO, IL3, KITLG, THPO
17il 114410.7IL3, EPO
18imatinib44 49 1112.6EPO, IL3, KITLG, THPO
19anagrelide44 1111.6THPO, EPO
204-hydroperoxycyclophosphamide4410.6IL3, KITLG
21neomycin4410.6EPO, IL3, KITLG
225-aza-2deoxycytidine4410.6THPO, KITLG, IL3, EPO
23lenalidomide44 1111.6IL3, EPO
24zidovudine44 1111.5EPO, IL3, KITLG
25ag-12964410.5KITLG, IL3
26butyrate4410.5THPO, KITLG, IL3, EPO
27rapamycin4410.4EPO, IL3, KITLG, THPO
28as 10159 4411.4KITLG, IL3
29benzidine4410.4KITLG, EPO
30ly2940024410.4EPO, IL3, KITLG, THPO
31hydrocortisone44 2 59 1113.2EPO, IL3, KITLG
32rhodamine 12344 4911.1KITLG, IL3

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
1small ribosomal subunitGO:01593510.4RPS24, RPS26
2cytosolic small ribosomal subunitGO:02262710.3RPS24, RPS26, RPS19, RPS7, RPS17, RPS10
3ribosomeGO:00584010.3RPS10, RPS17, RPS7, RPS19
4cytosolic large ribosomal subunitGO:02262510.3RPL5, RPL11, RPL35A
5cytosolGO:0058299.9RPS26, RPS19, RPS7, RPL5, RPS17, RPL11

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

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1ribosomal small subunit biogenesisGO:04227410.6RPS19, RPS7, RPS17, RPS24
2ribosomal large subunit biogenesisGO:04227310.6RPL5, RPL11, RPL35A
3maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)GO:00046210.6RPS24, RPS19
4viral transcriptionGO:01908310.5RPS26, RPS19, RPS7, RPL5, RPS17, RPL11
5viral life cycleGO:01905810.5RPS24, RPS10, RPL35A, RPL11, RPS26, RPS19
6SRP-dependent cotranslational protein targeting to membraneGO:00661410.5RPS26, RPS19, RPS7, RPL5, RPS17, RPL11
7positive regulation of DNA replicationGO:04574010.5KITLG, IL3, EPO
8erythrocyte homeostasisGO:03410110.5RPS17, RPS24
9translational terminationGO:00641510.5RPS26, RPS19, RPS7, RPL5, RPS17, RPL11
10rRNA processingGO:00636410.5RPS19, RPS7, RPL5, RPS17, RPL11, RPL35A
11nuclear-transcribed mRNA catabolic process, nonsense-mediated decayGO:00018410.5RPS24, RPS26, RPS19, RPS7, RPL5, RPS17
12translational initiationGO:00641310.5RPS17, RPL11, RPL35A, RPS10, RPS24, RPL5
13translational elongationGO:00641410.5RPS26, RPS19, RPS7, RPL5, RPS24, RPS10
14mRNA metabolic processGO:01607110.5RPS26, RPS19, RPS7, RPL5, RPS17, RPL11
15translationGO:00641210.5RPS26, RPS19, RPS7, RPL5, RPS17, RPL11
16ribosomal small subunit assemblyGO:00002810.5RPS19, RPS17
17RNA metabolic processGO:01607010.5RPS26, RPS19, RPS7, RPL5, RPS17, RPL11
18viral processGO:01603210.5RPS26, RPS19, RPS7, RPL5, RPS17, RPL11
19cellular protein metabolic processGO:04426710.4RPS26, RPS19, RPS7, RPL5, RPS17, RPL11
20gene expressionGO:01046710.4RPS26, RPS19, RPS7, RPL5, RPS17, RPL11
21embryonic hemopoiesisGO:03516210.4KITLG, IL3
22erythrocyte maturationGO:04324910.4EPO, FLVCR1
23positive regulation of Ras protein signal transductionGO:04657910.3EPO, KITLG
24positive regulation of tyrosine phosphorylation of Stat5 proteinGO:04252310.1IL3, EPO

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of ribosomeGO:00373510.2RPS24, RPL35A, RPL11, RPS17, RPL5, RPS7

Products for genes affiliated with Diamond-Blackfan Anemia

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  • Antibodies
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Sources for Diamond-Blackfan Anemia

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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