MCID: BCK010
MIFTS: 6

Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion

Categories: Nephrological diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion

MalaCards integrated aliases for Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion:

Name: Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion 55

Classifications:



External Ids:

Orphanet 55 ORPHA231127
ICD10 via Orphanet 33 Q87.3

Summaries for Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion

MalaCards based summary : Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion An important gene associated with Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion is H19 (H19, Imprinted Maternally Expressed Transcript (Non-Protein Coding)).

Related Diseases for Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion

Symptoms & Phenotypes for Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion

Drugs & Therapeutics for Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
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 11p15 Microdeletion

Genetic Tests for Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion

Anatomical Context for Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion

Publications for Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion

Variations for Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion

Expression for Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion

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

Pathways for Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion

GO Terms for Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion

Sources for Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion

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