MCID: BCK012
MIFTS: 12

Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 malady

Categories: Nephrological diseases, Fetal diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15

Aliases & Descriptions for Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15:

Name: Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 56

Characteristics:

Orphanet epidemiological data:

56

Classifications:



External Ids:

Orphanet 56 ORPHA231117
ICD10 via Orphanet 34 Q87.3

Summaries for Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15

MalaCards based summary : Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 is related to ehlers-danlos/osteogenesis imperfecta syndrome and ceroid lipofuscinosis, neuronal, 13, kufs type. An important gene associated with Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 is H19 (H19, Imprinted Maternally Expressed Transcript (Non-Protein Coding)).

Related Diseases for Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15

Graphical network of the top 20 diseases related to Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15:



Diseases related to Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15

Symptoms & Phenotypes for Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15

Drugs & Therapeutics for Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15

Interventional clinical trials:


id Name Status NCT ID Phase
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15

Genetic Tests for Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15

Anatomical Context for Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15

Publications for Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15

Variations for Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15

Expression for Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15

Search GEO for disease gene expression data for Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15.

Pathways for Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15

GO Terms for Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15

Sources for Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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