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Disease Ontology Browser
achondroplasia (DOID:4480)
Alliance: disease page
Synonyms: Achondroplastic physique; Chondrodystrophia; osteosclerosis congenita
Alt IDs: OMIM:100800, ICD10CM:Q77.4, MESH:D000130, NCI:C34345, UMLS_CUI:C0001080
Definition: An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone.

Disease References using Mouse Models (26)
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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11/05/2024
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