|OBO ID: DOID:0111266|
|Term Name:||geroderma osteodysplasticum||Search Ontology:|
|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. (2)|
|Ontology:||Human Disease (DOID:0111266)|
|is a type of:||
OTHER geroderma osteodysplasticum PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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