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fibrochondrogenesis 1
Summary
- 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.
- Super Class
- autosomal recessive disease fibrochondrogenesis
External Links
- Disease Ontology
- DOID:0080672
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P12107 | Collagen alpha-1(XI) chain |
