Term Name: | geroderma osteodysplasticum |
---|---|
Synonyms: | geroderma osteodysplastica, gerodermia osteodysplastica, GO, Walt Disney dwarfism |
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. |
Ontology: | Human Disease [DOID:0111266] ( DOID:0111266 ) |