MCID: OMP011
MIFTS: 13

Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects

Categories: Bone diseases, Cardiovascular diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects

MalaCards integrated aliases for Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects:

Name: Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects 56 52 71
Gershoni-Baruch Syndrome 56 52 58
Omphalocele-Diaphragmatic Hernia-Cardiovascular Anomalies-Radial Ray Defect Syndrome 58

Classifications:

Orphanet: 58  
Rare cardiac malformations
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 609545
Orphanet 58 ORPHA496693
MedGen 41 C1836007
UMLS 71 C1836007

Summaries for Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects

MalaCards based summary : Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects, also known as gershoni-baruch syndrome, is related to omphalocele. Affiliated tissues include bone.

More information from OMIM: 609545

Related Diseases for Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects

Diseases related to Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 omphalocele 10.8

Symptoms & Phenotypes for Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects

Clinical features from OMIM:

609545

Drugs & Therapeutics for Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects

Search Clinical Trials , NIH Clinical Center for Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects

Genetic Tests for Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects

Anatomical Context for Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects

MalaCards organs/tissues related to Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects:

40
Bone

Publications for Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects

Articles related to Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects:

# Title Authors PMID Year
1
Gershoni-Baruch syndrome: report of a new family confirming autosomal recessive inheritance. 61 56
12955772 2003
2
Heterogeneity in omphalocoele with absent radial ray complex. 56
9916853 1999
3
Recurrence of diaphragmatic agenesis associated with multiple midline defects: evidence for an autosomal gene regulating the midline. 56
7802033 1994
4
Unknown syndrome: radial ray defects, omphalocele, diaphragmatic hernia, and hepatic cyst. 56
2359107 1990
5
Gershoni-Baruch syndrome: First report of a surviving child. 61
26639892 2016
6
Omphalocele, radial ray defect and diaphragmatic hernia: another case of Gershoni-Baruch syndrome? 61
24783661 2014
7
Syndromes, disorders and maternal risk factors associated with neural tube defects (VII). 61
18935989 2008

Variations for Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects

Expression for Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects

Search GEO for disease gene expression data for Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects.

Pathways for Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects

GO Terms for Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects

Sources for Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects

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....