Cell Cycle Ontology

Last uploaded: June 26, 2014
Preferred Name

Epidermolysis bullosa dystrophica, Pasini type
Synonyms

Epidermolysis bullosa dystrophica, autosomal dominant

Epidermolysis bullosa dystrophica, with subcorneal cleavage

Definitions

(DDEB): A group of autosomal dominant blistering skin diseases characterized by tissue separation which occurs below the dermal-epidermal basement membrane at the level of the anchoring fibrils. Various clinical types with different severity are recognized, ranging from severe mutilating forms to mild forms with limited and localized scarring, and less frequent extracutaneous manifestations.(EBDSC): A bullous skin disorder with variable sized clefts just beneath the level of the stratum corneum. Clinical features include blisters, milia, atrophic scarring, nail dystrophy, and oral and conjunctival involvement, as seen in dystrophic epidermolysis bullosa.(P-DEB): A severe, dominantly inherited form of dystrophic epidermolysis bullosa characterized by albopapuloid Pasini papule, dorsal extremity blistering, milia formation and red atrophic scarring after recurrent blisters.

ID

http://purl.obolibrary.org/obo/OMIM_131750

definition

(DDEB): A group of autosomal dominant blistering skin diseases characterized by tissue separation which occurs below the dermal-epidermal basement membrane at the level of the anchoring fibrils. Various clinical types with different severity are recognized, ranging from severe mutilating forms to mild forms with limited and localized scarring, and less frequent extracutaneous manifestations.(EBDSC): A bullous skin disorder with variable sized clefts just beneath the level of the stratum corneum. Clinical features include blisters, milia, atrophic scarring, nail dystrophy, and oral and conjunctival involvement, as seen in dystrophic epidermolysis bullosa.(P-DEB): A severe, dominantly inherited form of dystrophic epidermolysis bullosa characterized by albopapuloid Pasini papule, dorsal extremity blistering, milia formation and red atrophic scarring after recurrent blisters.

has_obo_namespace

cell_cycle_ontology

has_related_synonym

Epidermolysis bullosa dystrophica, autosomal dominant

Epidermolysis bullosa dystrophica, with subcorneal cleavage

id

OMIM:131750

label

Epidermolysis bullosa dystrophica, Pasini type

notation

OMIM:131750

prefLabel

Epidermolysis bullosa dystrophica, Pasini type

treeView

http://purl.obolibrary.org/obo/OGMS_0000031

subClassOf

http://purl.obolibrary.org/obo/OGMS_0000031

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