MCID: BCK010
MIFTS: 5

Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion malady

Categories: Nephrological diseases, Fetal diseases, Rare diseases

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

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

Name: Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion 56

Classifications:



External Ids:

Orphanet 56 ORPHA231127
ICD10 via Orphanet 34 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:


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 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
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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