OBO ID: DOID:0111266
Term Name: geroderma osteodysplasticum Search Ontology:
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. (2)
References:
Ontology: Human Disease   (DOID:0111266)
OTHER geroderma osteodysplasticum PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GORAB Geroderma osteodysplasticum 231070
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None