Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
genetic disorder syndrome |
| gptkbp:affects |
gptkb:skin
mucous membranes |
| gptkbp:alsoKnownAs |
recessive dystrophic epidermolysis bullosa
|
| gptkbp:causedBy |
mutation in COL7A1 gene
|
| gptkbp:complication |
increased risk of squamous cell carcinoma
esophageal strictures |
| gptkbp:hasOrphanetID |
ORPHA:793
|
| https://www.w3.org/2000/01/rdf-schema#label |
Hallopeau-Siemens syndrome
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:namedAfter |
gptkb:François_Henri_Hallopeau
Heinrich Siemens |
| gptkbp:OMIM |
226600
|
| gptkbp:symptom |
scarring
skin blistering nail loss mucosal involvement |
| gptkbp:treatment |
supportive care
pain management wound care |
| gptkbp:bfsParent |
gptkb:François_Henri_Hallopeau
|
| gptkbp:bfsLayer |
7
|