Details of Disease | DrugMAP

General Information of Disease (ID: DISC54HY)

Disease Name	Biliary, renal, neurologic, and skeletal syndrome
Disease Hierarchy	DISYKSRF: Genetic disease DISC54HY: Biliary, renal, neurologic, and skeletal syndrome
Disease Identifiers	MONDO ID MONDO_0859191 UMLS CUI C5561990 OMIM ID 619534 MedGen ID 1794200

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
IFT56	OTIGAL0L	Strong	Autosomal recessive	[1]
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References

1	Knockdown of ttc26 disrupts ciliogenesis of the photoreceptor cells and the pronephros in zebrafish. Mol Biol Cell. 2012 Aug;23(16):3069-78. doi: 10.1091/mbc.E12-01-0019. Epub 2012 Jun 20.