Details of Disease

General Information of Disease (ID: DISGEBJT)

Disease Name Short-rib thoracic dysplasia 8 with or without polydactyly
Synonyms short rib-polydactyly syndrome, type 6; SRPS6; short rib-polydactyly syndrome type VI; SRTD8; short-rib thoracic dysplasia 8 with or without polydactyly
Definition An asphyxiating thoracic dystrophy that has material basis in compound heterozygous mutation in the WDR60 gene on chromosome 7q36.
Disease Hierarchy
DISLC357: Jeune syndrome
DISGEBJT: Short-rib thoracic dysplasia 8 with or without polydactyly
Disease Identifiers
MONDO ID
MONDO_0014214
UMLS CUI
C3809691
OMIM ID
615503
MedGen ID
816021

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
DYNC2I1 OTFTWIT7 Strong Autosomal recessive [1]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.