BBS11
MCID: BRD012
MIFTS: 50

Bardet-Biedl Syndrome 11 (BBS11)

Categories: Endocrine diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Bardet-Biedl Syndrome 11

MalaCards integrated aliases for Bardet-Biedl Syndrome 11:

Name: Bardet-Biedl Syndrome 11 56 12 52 73 29 6 15 71
Bbs11 56 12 52 73
Bardet-Biedl Syndrome 52 71
Bardet-Biedl Syndrome, Type 11 39
Bbs 52

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
one family has been reported with limited clinical information (last curated october 2014)


HPO:

31
bardet-biedl syndrome 11:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110133
OMIM 56 615988
OMIM Phenotypic Series 56 PS209900
MeSH 43 D020788
ICD10 32 Q87.89
MedGen 41 C1859569
UMLS 71 C0752166 C1859569

Summaries for Bardet-Biedl Syndrome 11

UniProtKB/Swiss-Prot : 73 Bardet-Biedl syndrome 11: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.

MalaCards based summary : Bardet-Biedl Syndrome 11, also known as bbs11, is related to bardet-biedl syndrome 12 and bardet-biedl syndrome 2. An important gene associated with Bardet-Biedl Syndrome 11 is TRIM32 (Tripartite Motif Containing 32), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. The drugs Hormone Antagonists and alpha-MSH have been mentioned in the context of this disorder. Affiliated tissues include kidney, heart and liver, and related phenotypes are obesity and retinopathy

Disease Ontology : 12 A Bardet-Biedl syndrome that has material basis in mutation in the TRIM32 gene on chromosome 9q33.

OMIM : 56 BBS11 was diagnosed in members of a single Israeli Bedouin family based on the presence of at least 3 of the following features: obesity, polydactyly, renal anomalies, retinopathy, hypogonadism, and learning disabilities (Chiang et al., 2006). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). (615988)

Related Diseases for Bardet-Biedl Syndrome 11

Diseases in the Bardet-Biedl Syndrome family:

Bardet-Biedl Syndrome 1 Bardet-Biedl Syndrome 3
Bardet-Biedl Syndrome 6 Bardet-Biedl Syndrome 2
Bardet-Biedl Syndrome 4 Bardet-Biedl Syndrome 5
Bardet-Biedl Syndrome 7 Bardet-Biedl Syndrome 8
Bardet-Biedl Syndrome 9 Bardet-Biedl Syndrome 10
Bardet-Biedl Syndrome 11 Bardet-Biedl Syndrome 12
Bardet-Biedl Syndrome 13 Bardet-Biedl Syndrome 14
Bardet-Biedl Syndrome 15 Bardet-Biedl Syndrome 16
Bardet-Biedl Syndrome 17 Bardet-Biedl Syndrome 18
Bardet-Biedl Syndrome 19 Bardet-Biedl Syndrome 20
Bardet-Biedl Syndrome 21

Diseases related to Bardet-Biedl Syndrome 11 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 689)
# Related Disease Score Top Affiliating Genes
1 bardet-biedl syndrome 12 34.9 WDPCP BBS12
2 bardet-biedl syndrome 2 34.8 MKKS BBS2
3 bardet-biedl syndrome 10 33.9 BBS7 BBS4 BBS2 BBS12 BBS10 BBS1
4 laurence-moon syndrome 33.1 MKKS BBS5 BBS2
5 mckusick-kaufman syndrome 32.1 MKKS BBS7 BBS4 BBS2 BBS12 BBS1
6 bardet-biedl syndrome 19 32.0 WDPCP TTC8 LZTFL1 BBS9 BBS7 BBS5
7 ciliopathy 31.6 SDCCAG8 BBS7 BBS1
8 inherited retinal disorder 31.6 BBS2 BBS10 BBS1
9 bardet-biedl syndrome 1 31.3 WDPCP MKKS LZTFL1 BBS9 BBS7 BBS4
10 retinal degeneration 30.8 MKKS BBS7 BBS4 BBS10 BBS1
11 bardet-biedl syndrome 17 30.8 WDPCP TTC8 LZTFL1 BBS9 BBS7 BBS5
12 bardet-biedl syndrome 13 30.6 WDPCP TTC8 TRIM32 SDCCAG8 MKS1 BBS9
13 bardet-biedl syndrome 15 30.5 WDPCP TTC8 MKS1 LZTFL1 BBS9 BBS7
14 nonsyndromic retinitis pigmentosa 30.5 TTC8 BBS2 BBS1
15 chromosome 2q35 duplication syndrome 30.2 WDPCP MKKS BBS2 BBS10 BBS1
16 bardet-biedl syndrome 18 30.1 WDPCP TTC8 MKS1 LZTFL1 BBS9 BBS7
17 bardet-biedl syndrome 16 29.9 WDPCP TTC8 SDCCAG8 MKS1 LZTFL1 BBS9
18 cystic kidney disease 29.8 MKS1 BBS4 BBS2 BBS1
19 nephronophthisis 2 29.7 SDCCAG8 MKS1 BBS1
20 alstrom syndrome 29.7 MKKS BBS7 BBS5 BBS2 BBS10 BBS1
21 coloboma of macula 29.6 SDCCAG8 MKS1 BBS2
22 bardet-biedl syndrome 3 29.4 WDPCP TTC8 TRIM32 MKS1 MKKS LZTFL1
23 bardet-biedl syndrome 8 29.4 WDPCP TTC8 TRIM32 MKS1 MKKS LZTFL1
24 visceral heterotaxy 29.3 MKS1 BBS7 BBS4 BBS2 BBS1
25 nephronophthisis 29.2 SDCCAG8 MKS1 BBS7 BBS5 BBS4 BBS2
26 primary ciliary dyskinesia 29.1 SDCCAG8 MKS1 BBS4 BBS2 BBS1
27 bardet-biedl syndrome 14 28.8 WDPCP TTC8 TRIM32 SDCCAG8 MKS1 MKKS
28 retinal disease 28.8 TTC8 MKKS BBS9 BBS7 BBS5 BBS4
29 bardet-biedl syndrome 6 28.8 WDPCP TTC8 TRIM32 SDCCAG8 MKS1 MKKS
30 body mass index quantitative trait locus 11 28.7 TTC8 MKKS BBS4 BBS2 BBS1 BBIP1
31 kartagener syndrome 28.2 SDCCAG8 MKS1 BBS4 BBS2 BBS1
32 fundus dystrophy 28.1 TTC8 SDCCAG8 MKS1 MKKS BBS9 BBS7
33 senior-loken syndrome 1 28.0 SDCCAG8 MKS1 MKKS BBS4 BBS2 BBS12
34 leber congenital amaurosis 27.5 TTC8 SDCCAG8 MKS1 MKKS BBS5 BBS4
35 polydactyly 27.0 TTC8 MKS1 MKKS LZTFL1 BBS7 BBS4
36 meckel syndrome, type 1 27.0 WDPCP SDCCAG8 MKS1 MKKS BBS9 BBS7
37 joubert syndrome 1 26.6 WDPCP TTC8 TRIM32 SDCCAG8 MKS1 MKKS
38 retinitis pigmentosa 24.4 WDPCP TTC8 TRIM32 SDCCAG8 MKS1 MKKS
39 bardet-biedl syndrome 24.2 WDPCP TTC8 TRIM32 SDCCAG8 MKS1 MKKS
40 bardet-biedl syndrome 4 13.1
41 bardet-biedl syndrome 5 13.1
42 bardet-biedl syndrome 7 13.1
43 bardet-biedl syndrome 9 13.1
44 bardet-biedl syndrome 20 13.0
45 bardet-biedl syndrome 21 13.0
46 vaginal atresia 11.9
47 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 11.7
48 nijmegen breakage syndrome 11.3
49 neuroretinitis 11.2
50 retinitis 11.2

Graphical network of the top 20 diseases related to Bardet-Biedl Syndrome 11:



Diseases related to Bardet-Biedl Syndrome 11

Symptoms & Phenotypes for Bardet-Biedl Syndrome 11

Human phenotypes related to Bardet-Biedl Syndrome 11:

31
# Description HPO Frequency HPO Source Accession
1 obesity 31 HP:0001513
2 retinopathy 31 HP:0000488
3 hypogonadism 31 HP:0000135
4 abnormality of the kidney 31 HP:0000077
5 polydactyly 31 HP:0010442

Symptoms via clinical synopsis from OMIM:

56
Growth Weight:
obesity

Genitourinary External Genitalia Male:
hypogonadism

Skeletal Feet:
polydactyly

Genitourinary Kidneys:
renal anomalies

Head And Neck Eyes:
retinopathy

Skeletal Hands:
polydactyly

Neurologic Central Nervous System:
learning disabilities

Clinical features from OMIM:

615988

MGI Mouse Phenotypes related to Bardet-Biedl Syndrome 11:

45 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.38 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4
2 cellular MP:0005384 10.25 BBS1 BBS10 BBS12 BBS2 BBS4 BBS7
3 nervous system MP:0003631 10.24 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4
4 behavior/neurological MP:0005386 10.22 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4
5 homeostasis/metabolism MP:0005376 10.17 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5
6 adipose tissue MP:0005375 10.14 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5
7 craniofacial MP:0005382 10.1 BBS1 BBS4 BBS7 MKKS MKS1 SDCCAG8
8 limbs/digits/tail MP:0005371 10.06 BBS1 BBS2 BBS5 BBS7 BBS9 MKKS
9 renal/urinary system MP:0005367 10.02 BBS1 BBS10 BBS12 BBS2 BBS4 BBS7
10 reproductive system MP:0005389 9.86 BBIP1 BBS1 BBS2 BBS4 BBS7 MKKS
11 hearing/vestibular/ear MP:0005377 9.85 BBS1 BBS4 MKKS MKS1 WDPCP
12 respiratory system MP:0005388 9.63 BBS1 BBS4 MKKS MKS1 TTC8 WDPCP
13 vision/eye MP:0005391 9.47 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4
14 taste/olfaction MP:0005394 9.43 BBS1 BBS2 BBS4 BBS7 MKKS TTC8

Drugs & Therapeutics for Bardet-Biedl Syndrome 11

Drugs for Bardet-Biedl Syndrome 11 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormone Antagonists Phase 2, Phase 3
2 alpha-MSH Phase 2, Phase 3 581-05-5
3 Hormones Phase 2, Phase 3
4 Insulin, Globin Zinc
5 insulin

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Setmelanotide (RM-493) Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity Recruiting NCT03013543 Phase 2, Phase 3 Setmelanotide
2 A Phase 3 Trial of Setmelanotide (RM-493), a Melanocortin-4 Receptor (MC4R) Agonist, in Bardet-Biedl Syndrome (BBS) and Alström Syndrome (AS) Patients With Moderate to Severe Obesity Recruiting NCT03746522 Phase 3 Setmelanotide;Placebos
3 Treatment of Infantile and Juvenile Patients With Bardet-Biedl-Syndrome With Metformin. Evaluation of a Visual Improvement as a Side Effect of the Pediatric Treatment of Adipositas - a Prospective Pilot Study Without Control Withdrawn NCT03490019 Phase 2 Metformin
4 Bardet-Biedl Syndrome: Clinical and Genetic Epidemiology Study in the Adults Completed NCT00213811
5 Genetic and Clinical Studies of Congenital Anomaly Syndromes Completed NCT00001404
6 Clinical Registry Investigating Bardet-Biedl Syndrome Recruiting NCT02329210
7 Foundation Fighting Blindness Registry, My Retina Tracker Recruiting NCT02435940
8 Phenotypic and Genotypic Characterization of Subjects With Syndromic Obesity: Identifying New Candidate Genes by Exome Sequencing Recruiting NCT02510989
9 Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource (Hepato/Renal Fibrocystic Diseases Core Center (UAB HFRDCC)) Recruiting NCT01401998
10 Bardet-Biedl Syndrome: Phenotype and Metabolic Characteristics Terminated NCT00078091

Search NIH Clinical Center for Bardet-Biedl Syndrome 11

Genetic Tests for Bardet-Biedl Syndrome 11

Genetic tests related to Bardet-Biedl Syndrome 11:

# Genetic test Affiliating Genes
1 Bardet-Biedl Syndrome 11 29 TRIM32

Anatomical Context for Bardet-Biedl Syndrome 11

MalaCards organs/tissues related to Bardet-Biedl Syndrome 11:

40
Kidney, Heart, Liver, Prostate, Bone, Brain, Lung

Publications for Bardet-Biedl Syndrome 11

Articles related to Bardet-Biedl Syndrome 11:

(show all 15)
# Title Authors PMID Year
1
Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11). 61 56 6
16606853 2006
2
Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H. 61 6
17994549 2008
3
Bardet-Biedl Syndrome 61 6
20301537 2003
4
Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. 6
12567324 2003
5
Screening for mutation hotspots in Bardet-Biedl syndrome patients from India. 61
29806606 2018
6
USP9X counteracts differential ubiquitination of NPHP5 by MARCH7 and BBS11 to regulate ciliogenesis. 61
28498859 2017
7
Interaction with the Bardet-Biedl gene product TRIM32/BBS11 modifies the half-life and localization of Glis2/NPHP7. 61
24500717 2014
8
Common FSNP variants of fourteen Bardet-Biedl syndrome genes and adult body mass. 61
23404957 2013
9
Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes. 61
21642631 2011
10
Limb-girdle muscular dystrophy 2H and the role of TRIM32. 61
21496629 2011
11
Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease. 61
20177705 2010
12
TRIM32 is an E3 ubiquitin ligase for dysbindin. 61
19349376 2009
13
Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H. 61
19303295 2009
14
The zebrafish model: use in studying cellular mechanisms for a spectrum of clinical disease entities. 61
17504209 2007
15
Temporal expression pattern of Bardet-Biedl syndrome genes in adipogenesis. 61
17379567 2007

Variations for Bardet-Biedl Syndrome 11

ClinVar genetic disease variations for Bardet-Biedl Syndrome 11:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TRIM32 NM_012210.3(TRIM32):c.388C>T (p.Pro130Ser)SNV Pathogenic 7351 rs111033571 9:119460409-119460409 9:116698130-116698130
2 TRIM32 NM_012210.3(TRIM32):c.1222C>T (p.Arg408Cys)SNV Conflicting interpretations of pathogenicity 100583 rs3747835 9:119461243-119461243 9:116698964-116698964
3 TRIM32 NM_012210.3(TRIM32):c.404C>T (p.Thr135Ile)SNV Uncertain significance 288372 rs141953092 9:119460425-119460425 9:116698146-116698146
4 TRIM32 NM_012210.3(TRIM32):c.1168C>T (p.Arg390Cys)SNV Uncertain significance 451845 rs754554333 9:119461189-119461189 9:116698910-116698910

UniProtKB/Swiss-Prot genetic disease variations for Bardet-Biedl Syndrome 11:

73
# Symbol AA change Variation ID SNP ID
1 TRIM32 p.Pro130Ser VAR_038807 rs111033571

Expression for Bardet-Biedl Syndrome 11

Search GEO for disease gene expression data for Bardet-Biedl Syndrome 11.

Pathways for Bardet-Biedl Syndrome 11

Pathways related to Bardet-Biedl Syndrome 11 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.2 TTC8 SDCCAG8 MKS1 MKKS LZTFL1 BBS9
2
Show member pathways
11.76 TTC8 MKKS LZTFL1 BBS9 BBS7 BBS5

GO Terms for Bardet-Biedl Syndrome 11

Cellular components related to Bardet-Biedl Syndrome 11 according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.33 WDPCP TTC8 TRIM32 SDCCAG8 MKS1 MKKS
2 cytosol GO:0005829 10.32 TTC8 TRIM32 SDCCAG8 MKS1 MKKS LZTFL1
3 cytoskeleton GO:0005856 10.14 WDPCP TTC8 SDCCAG8 MKS1 MKKS BBS9
4 microtubule organizing center GO:0005815 10.07 TTC8 SDCCAG8 MKS1 MKKS BBS9 BBS7
5 cell projection GO:0042995 10.07 WDPCP TTC8 SDCCAG8 MKS1 BBS9 BBS7
6 cell GO:0005623 10.01 TRIM32 MKKS BBS7 BBS5 BBS4 BBS2
7 centrosome GO:0005813 9.98 TTC8 SDCCAG8 MKS1 MKKS BBS7 BBS4
8 ciliary membrane GO:0060170 9.87 TTC8 BBS9 BBS7 BBS5 BBS4 BBS2
9 ciliary basal body GO:0036064 9.81 TTC8 SDCCAG8 MKS1 MKKS BBS7 BBS5
10 axoneme GO:0005930 9.8 WDPCP BBS7 BBS5 BBS1
11 centriolar satellite GO:0034451 9.78 SDCCAG8 BBS9 BBS5 BBS4
12 centriole GO:0005814 9.74 SDCCAG8 MKS1 BBS4
13 motile cilium GO:0031514 9.73 MKKS BBS4 BBS2
14 ciliary transition zone GO:0035869 9.7 MKS1 BBS9 BBS4
15 non-motile cilium GO:0097730 9.58 TTC8 BBS4
16 BBSome GO:0034464 9.56 TTC8 BBS9 BBS7 BBS5 BBS4 BBS2
17 pericentriolar material GO:0000242 9.55 BBS9 BBS4
18 cilium GO:0005929 9.4 WDPCP TTC8 MKS1 BBS9 BBS7 BBS5

Biological processes related to Bardet-Biedl Syndrome 11 according to GeneCards Suite gene sharing:

(show all 40)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 10.09 TTC8 BBS9 BBS7 BBS5 BBS4 BBS2
2 response to stimulus GO:0050896 10.06 MKKS BBS9 BBS7 BBS5 BBS4 BBS2
3 sensory perception of smell GO:0007608 9.98 TTC8 MKKS BBS4 BBS1
4 visual perception GO:0007601 9.97 MKKS BBS9 BBS7 BBS5 BBS4 BBS2
5 heart looping GO:0001947 9.86 MKKS BBS7 BBS5 BBS4
6 protein localization GO:0008104 9.83 BBS7 BBS4 BBS2
7 cerebral cortex development GO:0021987 9.82 MKKS BBS4 BBS2
8 determination of left/right symmetry GO:0007368 9.81 MKS1 MKKS BBS7
9 hippocampus development GO:0021766 9.81 MKKS BBS4 BBS2
10 smoothened signaling pathway GO:0007224 9.8 WDPCP MKS1 BBS7
11 negative regulation of GTPase activity GO:0034260 9.8 TTC8 MKKS BBS4
12 intracellular transport GO:0046907 9.8 MKKS BBS7 BBS5 BBS4
13 melanosome transport GO:0032402 9.8 MKKS BBS7 BBS5 BBS4 BBS2
14 photoreceptor cell maintenance GO:0045494 9.8 MKKS BBS4 BBS2 BBS12 BBS10 BBS1
15 fat cell differentiation GO:0045444 9.8 TTC8 TRIM32 MKKS BBS9 BBS7 BBS4
16 retina homeostasis GO:0001895 9.79 BBS4 BBS10 BBS1
17 positive regulation of multicellular organism growth GO:0040018 9.78 MKKS BBS4 BBS2
18 protein localization to cilium GO:0061512 9.77 BBS9 BBS4 BBS1
19 brain morphogenesis GO:0048854 9.76 MKKS BBS4 BBS2
20 non-motile cilium assembly GO:1905515 9.76 TTC8 MKS1 MKKS BBS7 BBS4 BBS2
21 chaperone-mediated protein complex assembly GO:0051131 9.75 MKKS BBS12 BBS10
22 regulation of stress fiber assembly GO:0051492 9.74 TTC8 MKKS BBS4
23 striatum development GO:0021756 9.72 MKKS BBS4 BBS2
24 response to leptin GO:0044321 9.71 MKKS BBS4 BBS2
25 leptin-mediated signaling pathway GO:0033210 9.7 MKKS BBS4 BBS2
26 cilium assembly GO:0060271 9.7 WDPCP TTC8 MKS1 MKKS BBS9 BBS7
27 regulation of cilium beat frequency involved in ciliary motility GO:0060296 9.69 MKKS BBS4 BBS2
28 Golgi to plasma membrane protein transport GO:0043001 9.68 BBS2 BBS1
29 adult behavior GO:0030534 9.68 BBS4 BBS2
30 inner ear receptor cell stereocilium organization GO:0060122 9.67 TTC8 MKS1
31 motile cilium assembly GO:0044458 9.67 MKS1 BBS5
32 face development GO:0060324 9.67 MKKS BBS4
33 vasodilation GO:0042311 9.66 MKKS BBS2
34 protein localization to organelle GO:0033365 9.66 BBS4 BBS2
35 negative regulation of actin filament polymerization GO:0030837 9.65 MKKS BBS4
36 artery smooth muscle contraction GO:0014824 9.65 MKKS BBS2
37 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 9.65 MKKS BBS4 BBS2
38 sensory processing GO:0050893 9.61 TTC8 BBS4
39 pigment granule aggregation in cell center GO:0051877 9.59 MKKS BBS7
40 cell projection organization GO:0030030 9.36 WDPCP TTC8 SDCCAG8 MKS1 BBS9 BBS7

Molecular functions related to Bardet-Biedl Syndrome 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.89 WDPCP TTC8 TRIM32 SDCCAG8 MKS1 MKKS
2 RNA polymerase II repressing transcription factor binding GO:0001103 9.23 TTC8 MKKS BBS7 BBS5 BBS4 BBS2

Sources for Bardet-Biedl Syndrome 11

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....