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loading...| Preferred Name |
hypochondrogenesis |
| Definitions |
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. |
| ID |
http://purl.obolibrary.org/obo/DOID_0080044 |
| database_cross_reference |
MESH:C563007 |
| 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. |
| disease has basis in | |
| has symptom | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0080044 |
| label |
hypochondrogenesis |
| notation |
DOID:0080044 |
| prefLabel |
hypochondrogenesis |
| subClassOf |
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