| Metadata | |
|---|---|
| ID | DOID:0080672 |
| Name | fibrochondrogenesis 1 |
| 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. https://pubmed.ncbi.nlm.nih.gov/21035103/ |
| Xrefs | |
| Parent Relationships |
is_a fibrochondrogenesis |