Version: 8.0.0Date: Tue Jan 28 2025
Disease Genes: COL7A1 (Hsa)
Source: DOID:0111345
Definition: An epidermolysis bullosa dystrophica characterized by generalized blistering at birth that usually regresses by 6 to 24 months of age that has_material_basis_in heterozygous, compound heterozygous or homozygous mutation in COL7A1 on chromosome 3p21.31.
Genes: COL7A1 (Hsa)
Source: DOID:0060642
Definition: An epidermolysis bullosa dystrophica characterized by recurrent blistering at the level of the sublamina densa beneath the cutaneous basement membrane; it has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding type VII collagen (COL7A1) on chromosome 3p21.
Genes: COL7A1 (Hsa)
Source: DOID:4959
Definition: An epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, especially in the hands, feet, knees, and elbows, and has_material_basis_in mutation in COL7A1 gene, which encodes a protein that assists assembly of type VII collagen.
Genes: COL7A1 (Hsa)
Source: DOID:0080086
Definition: A nonsyndromic congenital nail disorder that is characterized by dystrophy of the toenails only.
Genes: COL7A1 (Hsa)
Source: DOID:0111347
Definition: An autosomal dominant dystrophic epidermolysis bullosa characterized by severe blistering of skin and mucous membranes, congenital absence of skin on the lower extremities and congenital absence or deformity of nails that has_material_basis_in heterozygous mutation in the COL7A1 gene on chromosome 3p21.31.
Genes: COL7A1 (Hsa)
Source: DOID:0080224
Definition: An epidermolysis bullosa dystrophica that is characterized by recurrent blistering at the level of the lamina densa secondary to minor trauma, limited to the nails, hands, feet, knees, and elbows, and has_material_basis_in autosomal dominant inheritance of mutation in the COL7A1 gene, which encodes a protein that assists assembly of type VII collagen.
Genes: COL7A1 (Hsa)
Source: DOID:0080988
Definition: An epidermolysis bullosa dystrophica that is characterized by recurrent blistering and scarring, mainly in the pretibial area and that has_material_basis_in heterozygous or compound heterozygous mutation in the type VII collagen gene (COL7A1) on chromosome 3p21. The lesions often show lichenoid features. Pretibial epidermolysis bullosa is allelic to autosomal dominant and recessive dystrophic epidermolysis bullosa.
Genes: COL7A1 (Hsa)