epidermolysis bullosa simplex with muscular dystrophy

Summary

DOID:0090017 - epidermolysis bullosa simplex with muscular dystrophy

Disease Ontology 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.

Synonyms: epidermolysis bullosa simplex and limb-girdle muscular dystrophy, limb-girdle muscular dystrophy with epidermolysis bullosa simplex

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: plec

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009181 - epidermolysis bullosa simplex 5B, with muscular dystrophy

MONDO:0009181 - epidermolysis bullosa simplex 5B, with muscular dystrophy

MIM:

MIM:226670 - EPIDERMOLYSIS BULLOSA SIMPLEX 5B, WITH MUSCULAR DYSTROPHY; EBS5B

MIM:226670 - EPIDERMOLYSIS BULLOSA SIMPLEX 5B, WITH MUSCULAR DYSTROPHY; EBS5B

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), syndrome (is_a)