Details of Disease

General Information of Disease (ID: DISAH73G)

Disease Name Fibrochondrogenesis 1
Synonyms FBCG1; fibrochondrogenesis type 1; COL11A1 fibrochondrogenesis; fibrochondrogenesis caused by mutation in COL11A1; fibrochondrogenesis 1
Definition Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A1 gene.
Disease Hierarchy
DIS8RUBC: Fibrochondrogenesis
DISAH73G: Fibrochondrogenesis 1
Disease Identifiers
MONDO ID
MONDO_0009226
UMLS CUI
C3278138
OMIM ID
228520
MedGen ID
479768

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
COL11A1 OTB0DRMS Definitive Autosomal recessive [1]
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References

1 Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene. Am J Hum Genet. 2010 Nov 12;87(5):708-12. doi: 10.1016/j.ajhg.2010.10.009. Epub 2010 Oct 28.