FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term achondrogenesis ID (Ontology) DOID:0080043 (Human Disease)
Definition An osteochondrodysplasia that has_material_basis_in deficient endochondral ossification which results_in dwarfism, short-trunk, short-limbed, anascara, disproportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period.
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bone development disease__
cartilage disease_________|
                          osteochondrodysplasia
                           |__achondrogenesis  2 rec.
                               |__achondrogenesis type IA 1 rec.
                               |__achondrogenesis type IB 1 rec.
                               |__achondrogenesis type II
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Is a osteochondrodysplasia
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Synonyms
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GARD:2882
MESH:C579878
MIM:PS200600