Disease #00118 (DEBP (Dystrophic Epidermolysis Bullosa Pruriginosa), OMIM:604129)

Official abbreviation DEBP
Name Dystrophic Epidermolysis Bullosa Pruriginosa
OMIM ID 604129
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant, Autosomal recessive
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene COL7A1
Associated tissues skin
Disease features -
Remarks -


Individuals

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00000610 M M Tang et al.(2013) F Malaysia Malay - - - DEBP linear dyspigmented hyperkeratonic plaques over the arms, legs, abdomen, back and buttock, sparing her face and scalp. A few blisters on the abdomen, right knee and legs. Albopapuloid lesions over the dorsum of hands and feet. There were onychogryphosis of both thumbs, right index, middle and ring fingers and pterygium on her toenails. She had xerosis. COL7A1 COL7A1 1 1 Nur Aisyah Athirah
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