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

• GARD:413
• MESH:C537799
• OMIM:231070
• ORDO:2078
• SNOMEDCT_US_2023_03_01:254116003
• UMLS_CUI:C0432255

Ontology

Human Disease   ( DOID:0111266 )