EBS1A

EPIDERMOLYSIS BULLOSA SIMPLEX 1A, DOWLING-MEARA TYPE

EBSDM

EPIDERMOLYSIS BULLOSA HERPETIFORMIS, DOWLING-MEARA TYPE

EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE

http://purl.bioontology.org/ontology/OMIM/131760

EBS1A

EPIDERMOLYSIS BULLOSA SIMPLEX 1A, DOWLING-MEARA TYPE

EBSDM

EPIDERMOLYSIS BULLOSA HERPETIFORMIS, DOWLING-MEARA TYPE

EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE

C0079295

17q21.1

EBS1D

EBS1C

KRT14

EBS1B

EBS1A

http://purl.bioontology.org/ontology/OMIM/MTHU026622

http://purl.bioontology.org/ontology/OMIM/MTHU073436

http://purl.bioontology.org/ontology/OMIM/MTHU074623

http://purl.bioontology.org/ontology/OMIM/MTHU074622

http://purl.bioontology.org/ontology/OMIM/MTHU026623

http://purl.bioontology.org/ontology/OMIM/MTHU073431

http://purl.bioontology.org/ontology/OMIM/MTHU074342

http://purl.bioontology.org/ontology/OMIM/MTHU026620

http://purl.bioontology.org/ontology/OMIM/MTHU026621

http://purl.bioontology.org/ontology/OMIM/MTHU026625

http://purl.bioontology.org/ontology/OMIM/MTHU022908

http://purl.bioontology.org/ontology/OMIM/MTHU003063

http://purl.bioontology.org/ontology/OMIM/MTHU000166

http://purl.bioontology.org/ontology/OMIM/MTHU073434

http://purl.bioontology.org/ontology/OMIM/MTHU073437

http://purl.bioontology.org/ontology/OMIM/MTHU074624

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

http://purl.bioontology.org/ontology/OMIM/MTHU073432

Phenotype description, molecular basis known.

131760

3

pound

EPIDERMOLYSIS BULLOSA SIMPLEX 1A, GENERALIZED SEVERE

Caused by mutation in the keratin 14 gene (KRT14, 148066.0002) [MOLECULAR BASIS]

Intrafamilial variability [MISCELLANEOUS]

Onset at birth or in early infancy [MISCELLANEOUS]

Improvement with age [MISCELLANEOUS]

Some patients show improvement during summer or with fever [MISCELLANEOUS]

Disease exacerbation during summer due to heat [MISCELLANEOUS]

Infant death may occur secondary to sepsis [MISCELLANEOUS]

T047