Visualize Submit Comment

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	MIM:228520
Parent Relationships	is_a fibrochondrogenesis is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance