Details of Disease

General Information of Disease (ID: DISRBNBF)

Disease Name Short rib dysplasia
Synonyms ciliopathies with major skeletal involvement; SRP; short-rib dysplasia (with or without polydactyly)
Disease Hierarchy
DIS5Z8U6: Skeletal dysplasia
DISRBNBF: Short rib dysplasia
Disease Identifiers
MONDO ID
MONDO_0019691
UMLS CUI
C0432195
MedGen ID
609403
Orphanet ID
93426
SNOMED CT ID
254050009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
IFT140 OT6KO5FH Strong Biomarker [1]
IFT80 OTMH0MBI Strong Biomarker [2]
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References

1 Genome-wide ENU mutagenesis in combination with high density SNP analysis and exome sequencing provides rapid identification of novel mouse models of developmental disease.PLoS One. 2013;8(3):e55429. doi: 10.1371/journal.pone.0055429. Epub 2013 Mar 1.
2 An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia.Hum Mol Genet. 2011 Apr 1;20(7):1306-14. doi: 10.1093/hmg/ddr013. Epub 2011 Jan 12.