EBR1

EPIDERMOLYSIS BULLOSA DYSTROPHICA, HALLOPEAU-SIEMENS TYPE

EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, LOCALISATA VARIANT

DYSTROPHIC EPIDERMOLYSIS BULLOSA, AUTOSOMAL RECESSIVE

EPIDERMOLYSIS BULLOSA DYSTROPHICA, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE

RDEB

EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE

http://purl.bioontology.org/ontology/OMIM/226600

EBR1

EPIDERMOLYSIS BULLOSA DYSTROPHICA, HALLOPEAU-SIEMENS TYPE

EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, LOCALISATA VARIANT

DYSTROPHIC EPIDERMOLYSIS BULLOSA, AUTOSOMAL RECESSIVE

EPIDERMOLYSIS BULLOSA DYSTROPHICA, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE

RDEB

EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE

C2673612

C0079474

C2673611

11q22-q23

CLG

MMP1

http://purl.bioontology.org/ontology/OMIM/MTHU036686

http://purl.bioontology.org/ontology/OMIM/MTHU023416

http://purl.bioontology.org/ontology/OMIM/MTHU023418

http://purl.bioontology.org/ontology/OMIM/MTHU023426

http://purl.bioontology.org/ontology/OMIM/MTHU022418

http://purl.bioontology.org/ontology/OMIM/MTHU002993

http://purl.bioontology.org/ontology/OMIM/MTHU023413

http://purl.bioontology.org/ontology/OMIM/MTHU036377

http://purl.bioontology.org/ontology/OMIM/MTHU020146

http://purl.bioontology.org/ontology/OMIM/MTHU020175

http://purl.bioontology.org/ontology/OMIM/MTHU036374

http://purl.bioontology.org/ontology/OMIM/MTHU023415

http://purl.bioontology.org/ontology/OMIM/MTHU010421

http://purl.bioontology.org/ontology/OMIM/MTHU023419

http://purl.bioontology.org/ontology/OMIM/MTHU023422

http://purl.bioontology.org/ontology/OMIM/MTHU022425

http://purl.bioontology.org/ontology/OMIM/MTHU023423

http://purl.bioontology.org/ontology/OMIM/MTHU023417

http://purl.bioontology.org/ontology/OMIM/MTHU022427

http://purl.bioontology.org/ontology/OMIM/MTHU023424

http://purl.bioontology.org/ontology/OMIM/MTHU010011

http://purl.bioontology.org/ontology/OMIM/MTHU022417

http://purl.bioontology.org/ontology/OMIM/MTHU001907

http://purl.bioontology.org/ontology/OMIM/MTHU000129

http://purl.bioontology.org/ontology/OMIM/MTHU036443

http://purl.bioontology.org/ontology/OMIM/MTHU037417

http://purl.bioontology.org/ontology/OMIM/MTHU023412

http://purl.bioontology.org/ontology/OMIM/MTHU023425

http://purl.bioontology.org/ontology/OMIM/MTHU023404

http://purl.bioontology.org/ontology/OMIM/MTHU022428

http://purl.bioontology.org/ontology/OMIM/MTHU000155

http://purl.bioontology.org/ontology/OMIM/MTHU013195

http://purl.bioontology.org/ontology/OMIM/MTHU000680

http://purl.bioontology.org/ontology/OMIM/MTHU022429

http://purl.bioontology.org/ontology/OMIM/MTHU023421

http://purl.bioontology.org/ontology/OMIM/MTHU022424

http://purl.bioontology.org/ontology/OMIM/MTHU023420

http://purl.bioontology.org/ontology/OMIM/MTHU036408

Phenotype description, molecular basis known.

226600

3

pound

EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE

See also dominant DEB (131750), an allelic disorder with a less severe phenotype [MISCELLANEOUS]

Onset at birth or infancy [MISCELLANEOUS]

Caused by mutation in the collagen type VII, alpha-1 gene (COL7A1, 120120.0001) [MOLECULAR BASIS]

T047