ZFIN Human Disease: recessive dystrophic epidermolysis bullosa

OBO ID: DOID:0060642

Term Name:	recessive dystrophic epidermolysis bullosa		Search Ontology:
Synonyms:	autosomal recessive dystrophic epidermolysis bullosa generalisata gravis autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type RDEB, Hallopeau-Siemens type severe generalized RDEB severe generalized recessive dystrophic epidermolysis bullosa
Definition:	An epidermolysis bullosa dystrophica characterized by recurrent blistering at the level of the sublamina densa beneath the cutaneous basement membrane; it has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding type VII collagen (COL7A1) on chromosome 3p21. (3)
References:	ICD10CM:Q81.2 OMIM:226600 ORDO:79408
Ontology:	Human Disease ( DOID:0060642 )

Relationships

is a type of:	autosomal recessive disease epidermolysis bullosa dystrophica autosomal recessive disease epidermolysis bullosa dystrophica Show first 5 Terms

OTHER recessive dystrophic epidermolysis bullosa PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
COL7A1	col7a1	Epidermolysis bullosa dystrophica, localisata variant	226600
		Epidermolysis bullosa dystrophica inversa	226600
		Epidermolysis bullosa dystrophica, autosomal recessive	226600
MMP1		{Epidermolysis bullosa dystrophica, autosomal recessive, modifier of}

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None