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Disease Ontology Browser
geroderma osteodysplasticum (DOID:0111266)
Alliance: disease page
Synonyms: geroderma osteodysplastica; gerodermia osteodysplastica; GO; Walt Disney dwarfism
Alt IDs: OMIM:231070, MESH:C537799, ORDO:2078, UMLS_CUI:C0432255
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory