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| Term | achondrogenesis type II | ID (Ontology) | DOID:0080056 (Human Disease) |
| 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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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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No relevant statements available
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autosomal genetic disease |__autosomal dominant disease__ osteochondrodysplasia | |__achondrogenesis_____________| achondrogenesis type II |
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Relationships
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| Is a |
autosomal dominant disease achondrogenesis |
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Synonyms & Secondary IDs
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External Crossreferences & Linkouts
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GARD:8713 MESH:C536017 MIM:200610 |
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