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Metadata
ID DOID:0080056
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://en.wikipedia.org/wiki/Achondrogenesis_type_2, http://ghr.nlm.nih.gov/condition/achondrogenesis, http://www.healthline.com/galecontent/achondrogenesis
Xrefs

GARD:8713

MESH:C536017

OMIM:200610

Subsets

DO_rare_slim

Parent Relationships

is_a achondrogenesis

is_a autosomal dominant disease

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