Geroderma osteodysplastica Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
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. (Orphanet Rare Disease Ontology, Orphanet_2078)
External Link http://www.omim.org/entry/231070
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Genes

1 genes associated with the Geroderma osteodysplastica phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
GORAB golgin, RAB6-interacting