Search Ontology:
Human Disease
hypochondrogenesis
- Term ID
- DOID:0080044
- Synonyms
-
- 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. (3)
- References
- Ontology
- Human Disease ( DOID:0080044 )
- is a type of
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