DO_rare_slim has material basis in autosomal recessive disease Ehlers-Danlos syndrome spondylodysplastic type 2 2013-12-02T11:55:24Z 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. DOID:0050802 EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 ORDO:536467 ORDO:536467 disease_ontology Ehlers-Danlos syndrome progeroid type UMLS_CUI:C3809210 SNOMEDCT_US_2025_09_01:1251499005 MIM:615349 UMLS_CUI:C3809210 SNOMEDCT_US_2023_03_01:720861000 XGPT deficiency defective biosynthesis of proteodermatan sulfate xylosylprotein 4-beta-galactosyltransferase deficiency Ehlers-Danlos syndrome autosomal recessive inheritance