| Metadata | |
|---|---|
| ID | DOID:0080056 |
| PURL | http://purl.obolibrary.org/obo/DOID_0080056 Copy |
| Name | achondrogenesis type II |
| 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. http://ghr.nlm.nih.gov/condition/achondrogenesis, http://www.healthline.com/galecontent/achondrogenesis, http://en.wikipedia.org/wiki/Achondrogenesis_type_2 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Parent Relationships |
is_a autosomal dominant disease is_a achondrogenesis |
| Subclass Logical Relationships |
disease has location some (vertebral column or bony pelvis) has material basis in some autosomal dominant inheritance disease has basis in some gene |