Details of Disease

General Information of Disease (ID: DISZUM4D)

Disease Name Short-rib thoracic dysplasia 19 with or without polydactyly
Synonyms SRTD19; short-rib thoracic dysplasia 19 with or without polydactyly
Disease Hierarchy
DISLC357: Jeune syndrome
DISZUM4D: Short-rib thoracic dysplasia 19 with or without polydactyly
Disease Identifiers
MONDO ID
MONDO_0033485
UMLS CUI
C4693524
OMIM ID
617895
MedGen ID
1635837

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
IFT81 OTB23T17 Strong Autosomal recessive [1]
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References

1 IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype. J Med Genet. 2015 Oct;52(10):657-65. doi: 10.1136/jmedgenet-2014-102838. Epub 2015 Aug 14.