Omphalocele

Alias:
Congenital Omphalocele
Exumbilication
Omphalocoele
Exomphalos
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Omphalocele, also known as congenital omphalocele, is related to gastroschisis and otopalatodigital syndrome, type ii. An important gene associated with Omphalocele is PLOD1 (Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 1), and among its related pathways/superpathways is Noncanonical Wnt signaling pathway. Affiliated tissues include liver and lung, and related phenotypes are premature birth and omphalocele
Related ID:
MESH:D006554
ICD11:1168696429

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Antenatal
1-5/10000
25
240
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Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
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