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MCID: LCL024
MIFTS: 11
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Localized Dystrophic Epidermolysis Bullosa, Nails Only
Categories:
Fetal diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Localized Dystrophic Epidermolysis Bullosa, Nails Only:
Name: Localized Dystrophic Epidermolysis Bullosa, Nails Only
58
Characteristics:Inheritance:
Autosomal dominant,Autosomal recessive 58
Classifications:
ICD10:
32
Orphanet: 58
Rare skin diseases
Developmental anomalies during embryogenesis External Ids:
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Orphanet: 58 A form of localized dystrophic epidermolysis bullosa characterized by dystrophic nails in the absence of blistering. The nail deformity is often limited to toenails which can appear thickened and shortened, or may be absent. No other cutaneous or extracutaneous symptoms are observed. MalaCards based summary: Localized Dystrophic Epidermolysis Bullosa, Nails Only, is also known as localized deb, nails only. An important gene associated with Localized Dystrophic Epidermolysis Bullosa, Nails Only is COL7A1 (Collagen Type VII Alpha 1 Chain). Affiliated tissues include skin, and related phenotypes are fragile nails and dystrophic toenail |
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Human phenotypes related to Localized Dystrophic Epidermolysis Bullosa, Nails Only:58 30 (show all 11)
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Organs/tissues related to Localized Dystrophic Epidermolysis Bullosa, Nails Only:
MalaCards :
Skin
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Search
GEO
for disease gene expression data for Localized Dystrophic Epidermolysis Bullosa, Nails Only.
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