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 )

Relationships
is a type of: autosomal recessive disease syndrome