Ehlers-Danlos syndrome musculocontractural type 1

Summary

DOID:0080736 - Ehlers-Danlos syndrome musculocontractural type 1

Disease Ontology Definition:An Ehlers-Danlos syndrome that is characterized by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement and that has_material_basis_in homozygous or compound heterozygous mutation in the CHST14 gene on chromosome 15q14.

Synonyms:

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

OMIM:

MIM:601776 - ehlers-danlos syndrome, musculocontractural type 1; edsmc1

MIM:601776 - ehlers-danlos syndrome, musculocontractural type 1; edsmc1

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

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

Parent(s): Ehlers-Danlos syndrome (is_a), autosomal recessive disease (is_a)