Ehlers-Danlos syndrome spondylodysplastic type 2

Summary

DOID:0050802 - Ehlers-Danlos syndrome spondylodysplastic type 2

Disease Ontology Definition:An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_material_basis_in compound heterozygous mutation in the B3GALT6 gene.

Synonyms: defective biosynthesis of proteodermatan sulfate, Ehlers-Danlos syndrome progeroid type, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2, XGPT deficiency, xylosylprotein 4-beta-galactosyltransferase deficiency

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

: b4galt7, b3galt6

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0007526 - Ehlers-Danlos syndrome, spondylodysplastic type

MONDO:0007526 - Ehlers-Danlos syndrome, spondylodysplastic type

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), Ehlers-Danlos syndrome (is_a)