Metadata | |
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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 | |
Subsets |
DO_rare_slim |
Parent Relationships | |
Subclass Logical Relationships |
has phenotype some Narrow chest has phenotype some Severe short stature |