Omphalocele
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 5 |
| OrphanetNr: | 660 |
| OMIM Id: |
164750
310980 |
| ICD-10: |
Q79.2 |
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
10030308 |
| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 11.7 of 100 000 [Orphanet] |
| Inheritance: |
Not applicable [Orphanet] |
| Age of onset: |
Antenatal Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Nonsyndromic diaphragmatic or abdominal wall malformation
-Rare abdominal surgical disease -Rare developmental defect during embryogenesis |
Symptom Information:
|
|
(HPO:0001622) | Premature birth | Very frequent [Orphanet] | 100 / 7739 | |||
|
|
(HPO:0001539) | Omphalocele | Very frequent [Orphanet] | 102 / 7739 | |||
|
|
(HPO:0000023) | Inguinal hernia | 181 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
|
|
(HPO:0011420) | Death | Very frequent [Orphanet] | 184 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|