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Metadata
ID DOID:0080044
Name hypochondrogenesis
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.
http://en.wikipedia.org/wiki/Hypochondrogenesis, http://ghr.nlm.nih.gov/condition/hypochondrogenesis, http://www.healthline.com/galecontent/hypochondrogenesis
Xrefs

MESH:C563007

Parent Relationships

is_a osteochondrodysplasia

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