has part has part has_part realized in realized in metabolic process Ehlers-Danlos syndrome disease course Rare bone disease related to a common gene or pathway defect Congenital disorder of glycosylation with skin involvement Congenital disorder of glycosylation with developmental anomaly Ehlers-Danlos syndrome, progeroid type Galactosyltransferase I deficiency orphanet UMLS:C1869122 OMIM:130070 Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars. PDS ICD10:Q79.6 Defective biosynthesis of proteodermatan sulfate Xylosylprotein 4-beta-galactosyltransferase deficiency XGPT deficiency EDS, progeroid type MESH:C536201 OMIM:615349 B4GALT7-CDG Primary bone dysplasia with decreased bone density