Search Ontology:
Human Disease

geroderma osteodysplasticum

Term ID
DOID:0111266
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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