FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term fibrochondrogenesis 1 ID (Ontology) DOID:0080672 (Human Disease)
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.
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 Genes
 fibrochondrogenesis 1       1
 for disease ribbon | fibrochondrogenesis 1       1
 model of | fibrochondrogenesis 1       1
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autosomal genetic disease
 |__autosomal recessive disease__
osteochondrodysplasia            |
 |__fibrochondrogenesis__________|
                                 fibrochondrogenesis 1  1 rec.
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Is a autosomal recessive disease
fibrochondrogenesis
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MIM:228520