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| Term | hypochondrogenesis | ID (Ontology) | DOID:0080044 (Human Disease) |
| Definition | An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which affects bone growth and results_in a small body, hydrops fetalis, and abnormal ossification located_in vertebral column or located_in pelvis. The disease has_symptom enlarged abdomen. | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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bone development disease |__osteochondrodysplasia__ cartilage disease | |__osteochondrodysplasia__| genetic disease | |__monogenic disease______| hypochondrogenesis |
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| Is a |
monogenic disease osteochondrodysplasia |
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External Crossreferences & Linkouts
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| MESH:C563007 | |||