Search Ontology:
Human Disease
achondrogenesis type II
- Term ID
- DOID:0080056
- Synonyms
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- 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. (3)
- References
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- GARD:8713
- MESH:C536017
- MIM:200610
- Ontology
- Human Disease ( DOID:0080056 )
- is a type of
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Genes Involved
Zebrafish Models