DISEASES

Disease-gene associations mined from literature

Human genes for fibrochondrogenesis 1

Fibrochondrogenesis 1 [DOID:0080672]

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.

Synonyms:  fibrochondrogenesis 1,  DOID:0080672