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