Ehlers-Danlos syndrome spondylodysplastic type 2 Disease Ontology Browser

Disease Ontology Browser

Ehlers-Danlos syndrome spondylodysplastic type 2 (DOID:0050802)
Alliance: disease page
Synonyms: defective biosynthesis of proteodermatan sulfate; Ehlers-Danlos syndrome progeroid type; EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2; XGPT deficiency; xylosylprotein 4-beta-galactosyltransferase deficiency
Alt IDs: OMIM:615349, ORDO:75496, UMLS_CUI:C1869122
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.

Disease References using Mouse Models (1)

Allelic Composition	Genetic Background	Reference	Phenotypes
Bgntm1Mfy/Y Dcntm1Ioz/Dcntm1Ioz	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ	J:91512	View

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24