ZFIN Human Disease: epidermolysis bullosa simplex with muscular dystrophy

OBO ID: DOID:0090017

Term Name:	epidermolysis bullosa simplex with muscular dystrophy		Search Ontology:
Synonyms:	epidermolysis bullosa simplex and limb-girdle muscular dystrophy limb-girdle muscular dystrophy with epidermolysis bullosa simplex
Definition:	An syndrome characterized by early childhood onset of progressive muscular dystrophy and blistering skin changes and that has_material_basis_in homozygous or compound heterozygous mutation in the PLEC gene on chromosome 8q24. (2)
References:	ICD10CM:Q81.0 OMIM:226670 ORDO:257
Ontology:	Human Disease ( DOID:0090017 )

Relationships

is a type of:	autosomal recessive disease syndrome autosomal recessive disease syndrome Show first 5 Terms

OTHER epidermolysis bullosa simplex with muscular dystrophy PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PLEC	pleca plecb	Epidermolysis bullosa simplex 5B, with muscular dystrophy	226670

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None