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Human Disease

fibrochondrogenesis 1

Term ID
DOID:0080672
Synonyms
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/
References
Ontology
Human Disease   ( DOID:0080672 )
Relationships
is a type of
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Genes Involved
Zebrafish Models