has material basis in germline mutation in GORAB geroderma osteodysplastica https://github.com/monarch-initiative/mondo/issues/4948 https://rarediseases.info.nih.gov/diseases/413/geroderma-osteodysplastica https://www.malacards.org/card/geroderma_osteodysplasticum SCTID:254116003 GARD:0000413 UMLS:C0432255 MESH:C537799 geroderma osteodysplastica MONDO:0009271 Orphanet:2078 ICD9:759.89 GERODERMA OSTEODYSPLASTICUM GO OMIM:231070 Geroderma osteodysplasticum Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit. MEDGEN:98149 DOID:0111266 obsolete primary bone dysplasia with decreased bone density inherited cutis laxa osteogenesis imperfecta and a reduction of bone mineral density.