Details of Disease | DrugMAP

General Information of Disease (ID: DISTEIS2)

Disease Name	Joubert syndrome 30
Synonyms	JBTS30; Joubert syndrome 30
Disease Hierarchy	DIS7P5CO: Joubert syndrome DISTEIS2: Joubert syndrome 30
Disease Identifiers	MONDO ID MONDO_0033308 UMLS CUI C4539937 OMIM ID 617622 MedGen ID 1613861

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
ARMC9	OT0MZER2	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.