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fibrochondrogenesis 2

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A2 gene.
Uniprot Description A severe skeletal dysplasia characterized by a flat midface, short long bones, short ribs with broad metaphyses, and vertebral bodies that show distinctive hypoplastic posterior ends and rounded anterior ends, giving the vertebral bodies a pinched appearance on lateral radiographic views. The chest is small, causing perinatal respiratory problems which usually, but not always, result in lethality. Affected individuals who survive the neonatal period have high myopia, mild to moderate hearing loss, and severe skeletal dysplasia.
Mondo Term and Equivalent IDs
MONDO:0013795:  fibrochondrogenesis 2
UMLS:C3281128: