BBS
MCID: BRD002
MIFTS: 71

Bardet-Biedl Syndrome (BBS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Reproductive diseases, Endocrine diseases, Fetal diseases categories

Summaries for Bardet-Biedl Syndrome

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9Disease Ontology, 22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 Bardet-biedl syndrome is an inherited condition that affects many parts of the body. people with this condition have progressive visual impairment due toĀ cone-rod dystrophy, extra fingers or toes (polydactyly),Ā truncal obesity, decreased function of the male gonadsĀ (hypogonadism), kidneyĀ abnormalities, and learning difficulties. at least 14 genes are known to be associated with bardet-biedl syndrome. this condition is usuallyĀ inherited in an autosomal recessive pattern. last updated: 6/27/2014

MalaCards: Bardet-Biedl Syndrome, also known as laurence-moon syndrome, is related to bardet-biedl syndrome 1 and bardet-biedl syndrome 3, and has symptoms including undescended/ectopic testes/cryptorchidia/unfixed testes, congenital hepatic fibrosis and coloboma of iris. An important gene associated with Bardet-Biedl Syndrome is WDPCP (WD repeat containing planar cell polarity effector). Affiliated tissues include kidney, testes and pituitary, and related mouse phenotypes are hearing/vestibular/ear and adipose tissue.

Disease Ontology:9 An autosomal recessive disease that results from mutations in multiple bbs genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases.

Genetics Home Reference:22 Bardet-Biedl syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.

Wikipedia:66 The Bardet?Biedl syndrome (BBS) is a ciliopathic human genetic disorder that produces many effects and... more...

Description from OMIM:48 209900,245800

GeneReviews summary for bbs

Aliases & Classifications for Bardet-Biedl Syndrome

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9Disease Ontology, 20GeneReviews, 44NIH Rare Diseases, 22Genetics Home Reference, 11DISEASES, 46Novoseek, 63UMLS, 50Orphanet, 48OMIM, 21GeneTests, 23GTR, 59SNOMED-CT, 36MeSH, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
laurence-moon syndrome:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

bardet-biedl syndrome 9 20 44 22 11 46 63
laurence-moon syndrome 22 11 50 48 63
biedl-bardet syndrome 20 44 21 23
lmbbs 44 22
bbs 44 22
laurence moon bardet biedl syndrome 44
laurence-moon-bardet-biedl syndrome 22
laurence-moon-biedl syndrome 22
laurence moon syndrome 44
lms 22


External Ids:

Disease Ontology9 DOID:1935
MeSH36 D020788
MESH via Orphanet37 D007849
SNOMED-CT59 5619004
ICD10 via Orphanet27 Q87.8
SNOMED-CT via Orphanet60 232059000
UMLS via Orphanet64 C0023138

Related Diseases for Bardet-Biedl Syndrome

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18GeneCards, 19GeneDecks
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Diseases in the Bardet-Biedl Syndrome family:

Bardet-Biedl Syndrome 1 Bardet-Biedl Syndrome 10
Bardet-Biedl Syndrome 11 Bardet-Biedl Syndrome 12
Bardet-Biedl Syndrome 2 Bardet-Biedl Syndrome 3
Bardet-Biedl Syndrome 4 Bardet-Biedl Syndrome 5
Bardet-Biedl Syndrome 6 Bardet-Biedl Syndrome 7
Bardet-Biedl Syndrome 8 Bardet-Biedl Syndrome 9
Bbs1-Related Bardet-Biedl Syndrome Bbs2-Related Bardet-Biedl Syndrome
Arl6-Related Bardet-Biedl Syndrome Bbs4-Related Bardet-Biedl Syndrome
Bbs5-Related Bardet-Biedl Syndrome Mkks-Related Bardet-Biedl Syndrome
Bbs7-Related Bardet-Biedl Syndrome Ttc8-Related Bardet-Biedl Syndrome
Bbs9-Related Bardet-Biedl Syndrome Bbs10-Related Bardet-Biedl Syndrome
Trim32-Related Bardet-Biedl Syndrome Bbs12-Related Bardet-Biedl Syndrome
Mks1-Related Bardet-Biedl Syndrome Cep290-Related Bardet-Biedl Syndrome
Wdpcp-Related Bardet-Biedl Syndrome Sdccag8-Related Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 15 Bardet-Biedl Syndrome 17
Bardet-Biedl Syndrome 14 Bardet-Biedl Syndrome 13
Bardet-Biedl Syndrome 19

Diseases related to Bardet-Biedl Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 217)
idRelated DiseaseScoreTop Affiliating Genes
1bardet-biedl syndrome 131.2BBS1
2bardet-biedl syndrome 331.1ARL6
3obesity31.1BBS1, BBS4, BBS2, TTC8, MKKS
4bardet-biedl syndrome 431.1BBS4
5bardet-biedl syndrome 831.0TTC8
6bardet-biedl syndrome 631.0MKKS
7bardet-biedl syndrome 1031.0BBS10
8bardet-biedl syndrome 731.0BBS7
9mckusick-kaufman syndrome30.9MKKS
10bardet-biedl syndrome 1530.9WDPCP
11polydactyly30.8TTC8, MKKS, BBS2, BBS10, BBS4, ARL6
12retinal degeneration30.3BBS4, MKKS
13retinitis10.8
14laurence-moon syndrome10.8
15bardet-biedl syndrome 1110.6
16bardet-biedl syndrome 1210.6
17bardet-biedl syndrome 210.6
18bardet-biedl syndrome 510.6
19bardet-biedl syndrome 910.6
20situs inversus10.5
21kidney disease10.5
22retinitis pigmentosa10.5
23hirschsprung's disease10.5
24arl6-related bardet-biedl syndrome10.5
25mkks-related bardet-biedl syndrome10.5
26bbs7-related bardet-biedl syndrome10.5
27ttc8-related bardet-biedl syndrome10.5
28bbs10-related bardet-biedl syndrome10.5
29trim32-related bardet-biedl syndrome10.5
30bbs12-related bardet-biedl syndrome10.5
31mks1-related bardet-biedl syndrome10.5
32cep290-related bardet-biedl syndrome10.5
33wdpcp-related bardet-biedl syndrome10.5
34bardet-biedl syndrome, modifier of10.5
35bardet-biedl syndrome 1710.5
36bardet-biedl syndrome 1410.5
37bardet-biedl syndrome 1310.5
38strabismus10.5
39congenital hepatic fibrosis10.5
40macular dystrophy10.5
41lymphopenia10.4
42neuronitis10.4
43diabetes mellitus10.4
44hypertension10.4
45vaginitis10.4
46bbs1-related bardet-biedl syndrome10.4
47bbs2-related bardet-biedl syndrome10.4
48bbs4-related bardet-biedl syndrome10.4
49bbs5-related bardet-biedl syndrome10.4
50bbs9-related bardet-biedl syndrome10.4

Graphical network of the top 20 diseases related to Bardet-Biedl Syndrome:



Diseases related to bardet-biedl syndrome

Symptoms for Bardet-Biedl Syndrome

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

245800

Clinical features from OMIM:

209900,245800

Symptoms:

50 (show all 26)
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • congenital hepatic fibrosis
  • coloboma of iris
  • micropenis/small penis/agenesis
  • simian crease/transverse/unique palmar crease
  • upper limb polydactyly/hexadactyly
  • hypospadias/epispadias/bent penis
  • antitragus abnormal
  • strabismus/squint
  • short hand/brachydactyly
  • syndactyly of fingers/interdigital palm
  • autosomal recessive inheritance
  • generalized obesity
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • nystagmus
  • ataxia/incoordination/trouble of the equilibrium
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • cataract/lens opacification
  • insulin-independent/type 2 diabetes
  • sensorineural deafness/hearing loss
  • short stature/dwarfism/nanism
  • renal failure
  • brachycephaly/flat occiput
  • congenital cardiac anomaly/malformation/cardiopathy
  • epicanthic folds
  • low set ears/posteriorly rotated ears

Drugs & Therapeutics for Bardet-Biedl Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Bardet-Biedl Syndrome

Drug clinical trials:

Search ClinicalTrials for Bardet-Biedl Syndrome

Search NIH Clinical Center for Bardet-Biedl Syndrome

Search CenterWatch for Bardet-Biedl Syndrome

Genetic Tests for Bardet-Biedl Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Bardet-Biedl Syndrome:

id Genetic test Affiliating Genes
1 Bardet-Biedl Syndrome21 23 WDPCP
2 Bardet-Biedl Syndrome Multi-Gene Panels21

Anatomical Context for Bardet-Biedl Syndrome

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34MalaCards
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MalaCards organs/tissues related to Bardet-Biedl Syndrome:

34
Kidney, Testes, Pituitary, Eye, Brain, Thyroid, Retina, Skin

Animal Models for Bardet-Biedl Syndrome or affiliated genes

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38MGI
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Publications for Bardet-Biedl Syndrome

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53PubMed
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Articles related to Bardet-Biedl Syndrome:

(show top 50)    (show all 346)
idTitleAuthorsYear
1
Choroidal neovascularization in Bardet-Biedl syndrome. (23565731)
2013
2
EURO-WABB: an EU rare diseases registry for Wolfram syndrome, AlstrAPm syndrome and Bardet-Biedl syndrome. (23981649)
2013
3
Hyperphagia among patients with Bardet-Biedl syndrome. (23776152)
2013
4
Bardet-Biedl syndrome, the ciliopathy model and the importance of renal involvement. (24089167)
2013
5
Subretinal gene therapy of mice with Bardet-Biedl syndrome type 1. (23900607)
2013
6
BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome. (23143442)
2012
7
Prevalence of Bardet-Biedl syndrome in Tunisia. (22109794)
2011
8
Mutations in a guanylate cyclase GCY-35/GCY-36 modify Bardet-Biedl syndrome-associated phenotypes in Caenorhabditis elegans. (22022287)
2011
9
Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes. (22139371)
2011
10
Two sisters with Bardet-Biedl syndrome: brain abnormalities and unusual facial findings. (21980853)
2011
11
Prenatal diagnosis of McKusick-Kaufman/Bardet-Biedl syndrome. (22699466)
2011
12
Neocortical and hippocampal volume loss in a human ciliopathy: A quantitative MRI study in Bardet-Biedl syndrome. (21204204)
2011
13
McKusick-Kaufman or Bardet-Biedl syndrome? A new borderline case in an Italian nonconsanguineous healthy family. (22090721)
2011
14
Abnormal cystatin C levels in two patients with bardet-biedl syndrome. (21769262)
2011
15
The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia. (20603001)
2010
16
Bardet-Biedl syndrome in Denmark -- report of 13 novel sequence variations in six genes. (20120035)
2010
17
Laurence Moon Bardet Biedl Syndrome. (19377420)
2009
18
A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family. (19093007)
2008
19
Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome. (18443298)
2008
20
Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomography. (17980398)
2008
21
Retinal dysfunction in carriers of bardet-biedl syndrome. (17896315)
2007
22
Temporal expression pattern of Bardet-Biedl syndrome genes in adipogenesis. (17379567)
2007
23
Atypical association of Duane retraction syndrome and Bardet Biedl syndrome. (17322606)
2007
24
Bardet-Biedl syndrome gene variants are associated with both childhood and adult common obesity in French Caucasians. (17003356)
2006
25
Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11). (16606853)
2006
26
Comparative genomic analysis identifies an ADP-ribosylation factor- like gene as the cause of Bardet-Biedl Syndrome (BBS3). (15258860)
2004
27
Bardet-Biedl syndrome initially presenting as McKusick-Kaufman syndrome. (15340663)
2004
28
Bilateral spontaneous quadriceps tendon ruptures in a patient with Bardet-Biedl syndrome. (15553939)
2004
29
Orthopaedic manifestations of Bardet-Biedl syndrome. (14676542)
2004
30
Further support for digenic inheritance in Bardet-Biedl syndrome. (12920096)
2003
31
Acute poststreptococcal glomerulonephritis in a child with Bardet-Biedl syndrome. (11793138)
2002
32
Blepharospasm in bardet-biedl syndrome: a case report. (12422076)
2002
33
Evolution of ocular clinical and electrophysiological findings in pediatric Bardet-Biedl syndrome. (11196121)
1999
34
Otolaryngologic features of Laurence-Moon-Bardet-Biedl syndrome. (10187963)
1999
35
Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees. (10577921)
1999
36
Vaginal atresia and Bardet-Biedl syndrome association: a component or a distinct entity? (10211669)
1999
37
Laurence-Moon-Bardet-Biedl syndrome. Clinical, electrophysiological and genetic aspects. (9645236)
1998
38
Canadian Bardet-Biedl syndrome family reduces the critical region of BBS3 (3p) and presents with a variable phenotype. (9714014)
1998
39
The ocular phenotype of the Bardet-Biedl syndrome. Comparison to non-syndromic retinitis pigmentosa. (9134546)
1997
40
Anomalies in the permanent dentition and other oral findings in 29 individuals with Laurence-Moon-Bardet-Biedl syndrome. (8667262)
1996
41
The cause of death in Laurence-Moon-Bardet-Biedl syndrome. (8741118)
1996
42
Clinical features of Bardet-Biedl syndrome. (7793264)
1995
43
Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous. (8075632)
1994
44
Clinical aspects of renal involvement in Bardet-Biedl syndrome. (8270381)
1993
45
Obesity, hypertension, and renal disease in relatives of Bardet-Biedl syndrome sibs. (2333905)
1990
46
High incidence of Bardet Biedl syndrome among the Bedouin. (2591073)
1989
47
Bardet-Biedl syndrome and retinitis punctata albescens in an isolated northern Canadian community. (6733577)
1984
48
Bardet-Biedl syndrome and related disorders. (7065946)
1982
49
Hepatic involvement in the Bardet-Biedl syndrome. (7158637)
1982
50
Electroretinography and diagnosis of the Laurence-Moon-Bardet-Biedl syndrome in childhood. (576082)
1977

Variations for Bardet-Biedl Syndrome

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Bardet-Biedl Syndrome:

1 (show all 16)
id Gene Name Type Significance SNP ID Assembly Location
1BBS1NM_024649.4(BBS1): c.700G> A (p.Glu234Lys)single nucleotide variantLikely benign, Pathogenicrs35520756GRCh37Chr 11, 66287196: 66287196
2BBIP1NM_001195306.1(BBIP1): c.173T> G (p.Leu58Ter)single nucleotide variantPathogenicrs515726134GRCh38Chr 10, 110900466: 110900466
3LZTFL1NM_001276378.1(LZTFL1): c.209T> C (p.Leu70Pro)single nucleotide variantPathogenicrs515726135GRCh37Chr 3, 45877145: 45877145
4LZTFL1NM_001276378.1(LZTFL1): c.727G> T (p.Glu243Ter)single nucleotide variantPathogenicrs515726136GRCh38Chr 3, 45827459: 45827459
5MKKSNM_170784.2(MKKS): c.431_441delTTAGTAGTACT (p.Phe144Serfs)deletionPathogenicrs113994195GRCh37Chr 20, 10393722: 10393732
6MKKSNM_170784.2(MKKS): c.876_877insCCTG (p.Cys293Profs)insertionPathogenicrs113994196GRCh37Chr 20, 10393286: 10393287
7NM_024649.4(BBS1): c.1340-2A> Gsingle nucleotide variantPathogenicrs113994180GRCh37Chr 11, 66297288: 66297288
8NM_024649.4(BBS1): c.831-3C> Gsingle nucleotide variantPathogenicrs113994179GRCh37Chr 11, 66290924: 66290924
9BBS1NM_024649.4: c.-3_37del40deletionPathogenicrs113994178GRCh37Chr 11, 66278128: 66278167
10BBS4NM_033028.4(BBS4): c.220+1G> Csingle nucleotide variantPathogenicrs113994190GRCh37Chr 15, 73004649: 73004649
11BBS4NM_033028.4(BBS4): c.406-2A> Csingle nucleotide variantPathogenicrs113994191GRCh37Chr 15, 73015133: 73015133
12ARL6NM_032146.4(ARL6): c.272T> C (p.Ile91Thr)single nucleotide variantPathogenicrs137854907GRCh37Chr 3, 97503816: 97503816
13BBS12NM_001178007.1(BBS12): c.323C> G (p.Pro108Arg)single nucleotide variantPathogenicrs151344630GRCh37Chr 4, 123663370: 123663370
14BBS5NM_152384.2(BBS5): c.413G> A (p.Arg138His)single nucleotide variantPathogenicrs179363897GRCh37Chr 2, 170349410: 170349410
15BBS4BBS4: c.77-220deldeletionPathogenicrs113994189GRCh37Chr 15, 73001821: 73001821
16NM_033028.4(BBS4): c.157-2A> Gsingle nucleotide variantPathogenicrs113994192GRCh37Chr 15, 73004583: 73004583

Expression for genes affiliated with Bardet-Biedl Syndrome

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Bardet-Biedl Syndrome

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Pathways for genes affiliated with Bardet-Biedl Syndrome

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Compounds for genes affiliated with Bardet-Biedl Syndrome

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GO Terms for genes affiliated with Bardet-Biedl Syndrome

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17Gene Ontology
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Cellular components related to Bardet-Biedl Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ciliumGO:0059299.6TTC8, BBS10
2axonemeGO:0059309.5ARL6, WDPCP
3ciliary basal bodyGO:0360649.1TTC8, BBS2, BBS4
4motile ciliumGO:0315149.1MKKS, BBS4, BBS2
5centrosomeGO:0058138.4BBS7, BBS4, TTC8, MKKS
6ciliary membraneGO:0601707.4TTC8, ARL6, BBS1, BBS7, BBS4, BBS2
7BBSomeGO:0344647.3BBS7, BBS4, BBS2, TTC8, BBS1, ARL6

Biological processes related to Bardet-Biedl Syndrome according to GeneCards/GeneDecks:

(show all 34)
idNameGO IDScoreTop Affiliating Genes
1chaperone-mediated protein complex assemblyGO:0511319.9BBS10, MKKS
2convergent extension involved in gastrulationGO:0600279.9BBS4, MKKS
3sensory processingGO:0508939.9TTC8, BBS4
4artery smooth muscle contractionGO:0148249.8BBS2, MKKS
5regulation of protein localizationGO:0328809.8WDPCP, TTC8
6vasodilationGO:0423119.8MKKS, BBS2
7intracellular transportGO:0469079.8BBS4, MKKS
8protein localization to organelleGO:0333659.7BBS4, BBS2
9cartilage developmentGO:0512169.6BBS2, MKKS
10adult behaviorGO:0305349.5BBS2, BBS4
11sensory perception of smellGO:0076089.5BBS4, TTC8, MKKS
12determination of left/right symmetryGO:0073689.4ARL6, BBS7, MKKS
13negative regulation of appetite by leptin-mediated signaling pathwayGO:0381089.4MKKS, BBS2, BBS4
14regulation of cilium beat frequency involved in ciliary motilityGO:0602969.4MKKS, BBS2, BBS4
15striatum developmentGO:0217569.4BBS4, BBS2, MKKS
16brain morphogenesisGO:0488549.4MKKS, BBS2, BBS4
17positive regulation of multicellular organism growthGO:0400189.4BBS4, BBS2, MKKS
18hippocampus developmentGO:0217669.4MKKS, BBS2, BBS4
19cerebral cortex developmentGO:0219879.4BBS4, BBS2, MKKS
20pigment granule aggregation in cell centerGO:0518779.3MKKS, BBS4, BBS7
21negative regulation of gene expressionGO:0106299.3MKKS, BBS2, BBS4
22Golgi to plasma membrane protein transportGO:0430019.3BBS1, BBS2
23spermatid developmentGO:0072869.3BBS4, MKKS
24heart loopingGO:0019479.3MKKS, BBS4, BBS7
25response to stimulusGO:0508969.2BBS1, BBS10
26retina homeostasisGO:0018959.0BBS1, BBS4, BBS10
27protein transportGO:0150318.8TTC8, BBS4, BBS7
28cilium morphogenesisGO:0602718.5BBS7, BBS4, BBS2, WDPCP, MKKS
29melanosome transportGO:0324028.5MKKS, BBS2, BBS4, BBS7, ARL6
30cilium assemblyGO:0423848.4MKKS, TTC8, BBS4, BBS1, ARL6
31photoreceptor cell maintenanceGO:0454948.2MKKS, BBS2, BBS10, BBS4, BBS1
32fat cell differentiationGO:0454448.1MKKS, TTC8, BBS2, BBS4, BBS7, ARL6
33nonmotile primary cilium assemblyGO:0350587.6BBS1, BBS7, BBS4, BBS10, BBS2, MKKS
34visual perceptionGO:0076017.2MKKS, BBS2, BBS10, BBS4, BBS7, BBS1

Molecular functions related to Bardet-Biedl Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II repressing transcription factor bindingGO:0011036.4BBS1, MKKS, TTC8, BBS2, BBS10, BBS4
2protein bindingGO:0055156.4TTC8, BBS2, BBS10, BBS4, BBS7, BBS1

Products for genes affiliated with Bardet-Biedl Syndrome

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Sources for Bardet-Biedl Syndrome

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4CDC
14ExPASy
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23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet