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geroderma osteodysplastica

Disease Summary
Associated Targets (2)
Tbio

2


Explore Associated Targets
Mondo Description Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit.
Uniprot Description A rare autosomal recessive disorder characterized by lax, wrinkled skin, joint laxity and a typical face with a prematurely aged appearance. Skeletal signs include severe osteoporosis leading to frequent fractures, malar and mandibular hypoplasia and a variable degree of growth retardation.
Mondo Term and Equivalent IDs
MONDO:0009271:  geroderma osteodysplastica
DOID:0111266: 
GARD:0000413: 
MESH:C537799: 
Orphanet:2078: 
SCTID:254116003: 
UMLS:C0432255: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)