Search Ontology:
Human Disease

achondrogenesis type II

Term ID
DOID:0080056
Synonyms
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
Ontology
Human Disease   ( DOID:0080056 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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