DO_rare_slim has material basis in autosomal recessive disease geroderma osteodysplasticum UMLS_CUI:C0432255 GARD:413 MIM:231070 A syndrome characterized by lax and wrinkled skin, progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit that has_material_basis_in homozygous or compound heterozygous mutation in GORAB on 1q24.2. DOID:0111266 GO ORDO:2078 Walt Disney dwarfism disease_ontology SNOMEDCT_US_2025_09_01:254116003 MESH:C537799 geroderma osteodysplastica gerodermia osteodysplastica syndrome autosomal recessive inheritance