Umbilical cord ulceration - intestinal atresia

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 9
OrphanetNr: 3405
OMIM Id:
ICD-10:
UMLs: C2931371
MeSH: C536938
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 15 cases [Orphanet]
Inheritance: Unknown
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Syndromic intestinal malformation
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001789) Hydrops fetalis Occasional [Orphanet] 63 / 7739
2
 (HPO:0001561) Polyhydramnios Very frequent [Orphanet] 191 / 7739
3
 (HPO:0001195) Single umbilical artery Frequent [Orphanet] 23 / 7739
4
 (HPO:0002242) Abnormality of the intestine Frequent [Orphanet] 42 / 7739
5
 (HPO:0100867) Duodenal stenosis Very frequent [Orphanet] 29 / 7739
6
 (HPO:0012303) Abnormality of the aortic arch Frequent [Orphanet] 57 / 7739
7
 (HPO:0001629) Ventricular septal defect Frequent [Orphanet] 316 / 7739
8
 (HPO:0001702) Abnormality of the tricuspid valve Frequent [Orphanet] 32 / 7739
9
 (HPO:0001903) Anemia Very frequent [Orphanet] 289 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: