Version: 8.0.0
Date: Tue Jan 28 2025
fibrochondrogenesis 1
DOID:0080672
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

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.
Synonyms
None
Cross References
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