MCID: BCK010
MIFTS: 5

Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion

Categories: Fetal diseases, Nephrological 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 59

Classifications:



External Ids:

Orphanet 59 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).

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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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