Diseases [C] » Musculoskeletal Diseases [C05] » Bone Diseases » Bone Diseases, Developmental » Dwarfism » Achondroplasia
Diseases [C] » Musculoskeletal Diseases [C05] » Bone Diseases » Bone Diseases, Developmental » Osteochondrodysplasias » Achondroplasia
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Dwarfism » Achondroplasia
Description
An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, GENU VARUM, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001) MeSH
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Subtype Terms (1)
Approved Indicated Drugs (1)
Phase 4 Indicated Drugs (1)
Phase 3 Indicated Drugs (1)
Phase 2 Indicated Drugs (2)
Phase 1 Indicated Drugs (1)
Organization Involved with Phase 3 Indications (1)
Organization Involved with Phase 2 Indications (5)
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UMLS Data
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