Term Name:	fibrochondrogenesis 1
Synonyms:
Definition:	A fibrochondrogenesis that is characterized by a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen and that has_material_basis_in compound heterozygous mutation in the COL11A1 gene on chromosome 1p21.
Ontology:	Human Disease [DOID:0080672]   ( DOID:0080672 )