geroderma osteodysplasticum (DOID:0111266)
Alliance: disease page
Synonyms: geroderma osteodysplastica; gerodermia osteodysplastica; GO; Walt Disney dwarfism
Alt IDs: OMIM:231070, MESH:C537799, ORDO:2078, UMLS_CUI:C0432255
Definition: 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.