Details of Disease

General Information of Disease (ID: DIS9H8HD)

Disease Name Short-rib thoracic dysplasia 10 with or without polydactyly
Synonyms SRTD10; short-rib thoracic dysplasia 10 with or without polydactyly
Definition An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23.
Disease Hierarchy
DISLC357: Jeune syndrome
DIS9H8HD: Short-rib thoracic dysplasia 10 with or without polydactyly
Disease Identifiers
MONDO ID
MONDO_0014284
UMLS CUI
C3810175
OMIM ID
615630
MedGen ID
816505

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
IFT172 OT12DW08 Definitive Autosomal recessive [1]
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References

1 Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome. Hum Mol Genet. 2015 Jan 1;24(1):230-42. doi: 10.1093/hmg/ddu441. Epub 2014 Aug 28.