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fibrochondrogenesis 1

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A1 gene.
Uniprot Description A severe short-limbed skeletal dysplasia characterized by broad long-bone metaphyses, pear-shaped vertebral bodies, and characteristic morphology of the growth plate, in which the chondrocytes have a fibroblastic appearance and there are regions of fibrous cartilage extracellular matrix. Clinical features include 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.
Mondo Term and Equivalent IDs
MONDO:0009226:  fibrochondrogenesis 1
UMLS:C3278138: