Details of Disease

General Information of Disease (ID: DISO19BP)

Disease Name Short-rib thoracic dysplasia 18 with polydactyly
Synonyms SRTD18; short-rib thoracic dysplasia 18 with polydactyly
Disease Hierarchy
DISLC357: Jeune syndrome
DISO19BP: Short-rib thoracic dysplasia 18 with polydactyly
Disease Identifiers
MONDO ID
MONDO_0036483
UMLS CUI
C4693420
OMIM ID
617866
MedGen ID
1632904

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
IFT43 OTKWYQ5C Strong Biomarker [1]
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References

1 [Clinical features and mutational analysis of a case with Sensenbrenner syndrome].Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Jun 10;35(3):426-428. doi: 10.3760/cma.j.issn.1003-9406.2018.03.027.