Term Name: | fibrochondrogenesis 1 |
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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 ) |