Preferred Name | achondrogenesis | |
Synonyms |
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Definitions |
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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ID |
http://purl.obolibrary.org/obo/DOID_0080043 |
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database_cross_reference |
GARD:2882 OMIM:PS200600 |
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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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has_obo_namespace |
disease_ontology |
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IAO_0000115 |
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. |
|
id |
DOID:0080043 |
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label |
achondrogenesis |
|
notation |
DOID:0080043 |
|
note |
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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prefLabel |
achondrogenesis |
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subClassOf |