recessive dystrophic epidermolysis bullosa

См. также в других словарях:

• dystrophic epidermolysis bullosa — n any of several forms of epidermolysis bullosa that are marked esp. by blister formation between the basement membrane and lamina propria often accompanied by scarring and sometimes involvement of the mucous membranes (as of the mouth or… …   Medical dictionary

• recessive epidermolysis bullosa dystrophica — recessive dystrophic epidermolysis bullosa the autosomal recessive forms of epidermolysis bullosa dystrophica; these tend to be more severe than the dominant forms. Most are characterized by extensive denuded hemorrhagic erosions and blisters on… …   Medical dictionary

• epidermolysis bullosa dystrophica — epidermolysis bullosa caused by mutations in the COL7A1 gene (locus: 3p21.3), which encodes type VII collagen, characterized by blistering beneath the lamina densa, with atrophy of previously blistered areas, severe scarring after healing, and… …   Medical dictionary

• COL7A1 — Collagen, type VII, alpha 1 (epidermolysis bullosa, dystrophic, dominant and recessive), also known as COL7A1, is a human gene. PBB Summary section title = summary text = This gene encodes the alpha chain of type VII collagen. The type VII… …   Wikipedia

• Collagen, type VII, alpha 1 — Identifiers Symbols COL7A1; EBD1; EBDCT; EBR1 External IDs …   Wikipedia

• List of cutaneous conditions — This is an incomplete list, which may never be able to satisfy particular standards for completeness. You can help by expanding it with reliably sourced entries. See also: Cutaneous conditions, Category:Cutaneous conditions, and ICD 10… …   Wikipedia

• Nonsyndromic deafness — is hearing loss that is not associated with other signs and symptoms. In contrast, syndromic deafness involves hearing loss that occurs with abnormalities in other parts of the body. Genetic changes are related to the following types of… …   Wikipedia

• Genetic disorder — For a non technical introduction to the topic, see Introduction to genetics. Genetic disorder Classification and external resources MeSH D030342 A genetic disorder is an illness caused by abnormalities in genes or …   Wikipedia

• Otospondylomegaepiphyseal dysplasia — Classification and external resources OMIM 215150 DiseasesDB 32024 Otospondylomegaepiphyseal dysplasia (OSMED) is an autosomal recessive …   Wikipedia

• Osteogenesis imperfecta — Classification and external resources The classic blue sclerae of a person with osteogenesis imperfecta ICD 10 Q …   Wikipedia

• Multiple epiphyseal dysplasia — Classification and external resources ICD 9 756.56 OMIM 132400 226900 …   Wikipedia