EPIDERMOLYSIS BULLOSA WITH DIAPHRAGMATIC HERNIA

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 7
OrphanetNr:
OMIM Id: 226735
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0007446) Palmoplantar blistering 2 / 7739
2
 (HPO:0000776) Congenital diaphragmatic hernia 36 / 7739
3
 (HPO:0200037) Skin vesicle 102 / 7739
4
 (HPO:0008066) Abnormal blistering of the skin 20 / 7739
5
 (MedDRA:10053177) Epidermolysis 1 / 7739
6
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
7
 (HPO:0003811) Neonatal death 44 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: