Details of Disease

General Information of Disease (ID: DISM7IVM)

Disease Name Short-rib thoracic dysplasia 15 with polydactyly
Synonyms short-rib thoracic dysplasia 15 with polydactyly; SRTD15; SRTD15; short-rib thoracic dysplasia 15 with polydactyly
Disease Hierarchy
DISLC357: Jeune syndrome
DISM7IVM: Short-rib thoracic dysplasia 15 with polydactyly
Disease Identifiers
MONDO ID
MONDO_0014907
UMLS CUI
C4310724
OMIM ID
617088
MedGen ID
934691

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
DYNC2LI1 OT1X5YGJ Definitive Autosomal recessive [1]
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References

1 DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects. Sci Rep. 2015 Jul 1;5:11649. doi: 10.1038/srep11649.