EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE

EBR1

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

EBR1

DYSTROPHIC EPIDERMOLYSIS BULLOSA, AUTOSOMAL RECESSIVE

EPIDERMOLYSIS BULLOSA DYSTROPHICA, HALLOPEAU-SIEMENS TYPE

EPIDERMOLYSIS BULLOSA DYSTROPHICA, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE

EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, LOCALISATA VARIANT

RDEB

EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE

C2673612

C0079474

C2673611

11q22-q23

MMP1

CLG

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU027968

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

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

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

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

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

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

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

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU023428

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

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

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

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU027969

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

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

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

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

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

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

Phenotype description, molecular basis known.

226600

3

pound

EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE

T047