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Disease Ontology Browser
Ehlers-Danlos syndrome progeroid type (DOID:0050802)
Synonyms: defective biosynthesis of proteodermatan sulfate; EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2; XGPT deficiency; xylosylprotein 4-beta-galactosyltransferase deficiency
Alt IDs: OMIM:130070, OMIM:615349, MESH:C536201, 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/11/2017
MGI 6.10
The Jackson Laboratory