Details of Disease | DrugMAP

General Information of Disease (ID: DISU1O0Y)

Disease Name	Primary ciliary dyskinesia 35
Synonyms	ciliary dyskinesia, primary, 35, with or without situs inversus; ciliary dyskinesia, primary, type 35; TTC25 primary ciliary dyskinesia; primary ciliary dyskinesia 35 with or without situs inversus; ciliary dyskinesia, primary, 35; primary ciliary dyskinesia type 35; CILD35; primary ciliary dyskinesia caused by mutation in TTC25
Definition	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the TTC25 gene.
Disease Hierarchy	DISOBC7V: Primary ciliary dyskinesia DISU1O0Y: Primary ciliary dyskinesia 35
Disease Identifiers	MONDO ID MONDO_0014910 UMLS CUI C4310721 OMIM ID 617092 MedGen ID 934688

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
ODAD4	OTL9URMM	Definitive	Autosomal recessive	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.