ZFIN Human Disease: Ehlers-Danlos syndrome dermatosparaxis type

OBO ID: DOID:0080733

Term Name:	Ehlers-Danlos syndrome dermatosparaxis type		Search Ontology:
Synonyms:
Definition:	An Ehlers-Danlos syndrome that is characterized by severe skin fragility, sagging, redundant skin and that has_material_basis_in mutation in the gene encoding the procollagen protease ADAMTS2 on chromosome 5q35. https://pubmed.ncbi.nlm.nih.gov/28306229/
References:	OMIM:225410
Ontology:	Human Disease ( DOID:0080733 )

Relationships

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

OTHER Ehlers-Danlos syndrome dermatosparaxis type PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ADAMTS2	adamts2a adamts2b	Ehlers-Danlos syndrome, dermatosparaxis type	225410

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None