Visualize Submit Comment

Metadata
ID	DOID:0080043
Name	achondrogenesis
Definition	An osteochondrodysplasia that has_material_basis_in deficient endochondral ossification which results_in dwarfism, short-trunk, short-limbed, anascara, disproportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period. http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Achondrogenesis, http://www.orpha.net/data/patho/Pro/en/Achondrogenesis-FRenPro1256.pdf, http://www.healthline.com/galecontent/achondrogenesis, http://www.nlm.nih.gov/medlineplus/ency/article/001247.htm, http://en.wikipedia.org/wiki/Achondrogenesis
Xrefs	GARD:2882 MESH:C579878 MIM:PS200600
Subsets	DO_rare_slim
Parent Relationships	is_a osteochondrodysplasia
Subclass Logical Relationships	has phenotype some Narrow chest has phenotype some Severe short stature