dgn-np:NP680526.RAD2-l22BA-T42Cmbx_mUq0mas7bMYBOWA7ohB2n28IIE130_provenance {
  dgn-np:NP680526.RAD2-l22BA-T42Cmbx_mUq0mas7bMYBOWA7ohB2n28IIE130_assertion dcterms:description "[The distinguishing features of the disease are (1) early generalized skin involvement with blisters and erosions that heal with superficial, atrophic scars; (2) persistence into adulthood, although milder; (3) severity in flexural areas, especially the inguinal folds, perineum, axillae, submammary area, posterior and lateral aspects of the neck, and often the lower parts of the abdomen and back; (4) normal stature and general development; (5) severe oral and esophageal mucosal involvement; (6) normal teeth; (7) normal or minimally involved fingernails, but mild to moderately dystrophic or atrophic toenail changes; and (8) microscopic findings similar to those of the Hallopeau-Siemens form of epidermolysis bullosa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
    wi:evidence dgn-void:source_evidence_literature ;
    sio:SIO_000772 miriam-pubmed:3355197 ;
    prov:wasDerivedFrom dgn-void:befree-20150227 ;
    prov:wasGeneratedBy eco:ECO_0000203 .
  dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^xsd:date .
  dgn-void:source_evidence_literature a eco:ECO_0000212 ;
    rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en ;
    rdfs:label "DisGeNET evidence - LITERATURE"@en .
}