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)
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