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FNS-Harmony
Last uploaded:
November 2, 2023
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| Preferred Name | achondrogenesis type II | |
| Synonyms |
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| Definitions |
An achondrogenesis that has_material_basis_in mutations in the COL2A1 gene which results_in underdeveloped lungs, hydrops fetalis, a prominent forehead and abnormal ossification of the located_in vertebral column or located_in pelvis. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0080056 |
|
| definition |
An achondrogenesis that has_material_basis_in mutations in the COL2A1 gene which results_in underdeveloped lungs, hydrops fetalis, a prominent forehead and abnormal ossification of the located_in vertebral column or located_in pelvis.
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| imported from | ||
| label |
achondrogenesis type II
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| prefixIRI |
DOID:0080056
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| prefLabel |
achondrogenesis type II
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| subClassOf |
http://purl.obolibrary.org/obo/DOID_0080043 |
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