Details of Disease

General Information of Disease (ID: DISX2P8H)

Disease Name Joubert syndrome 26
Synonyms Joubert syndrome 26; KIAA0556 Joubert syndrome; Joubert syndrome caused by mutation in KIAA0556; Joubert syndrome type 26; JBTS26
Definition Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0556 gene.
Disease Hierarchy
DIS7P5CO: Joubert syndrome
DISX2P8H: Joubert syndrome 26
Disease Identifiers
MONDO ID
MONDO_0014771
UMLS CUI
C4084843
OMIM ID
616784
MedGen ID
900415

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
KATNIP OTLLA1BX Strong Autosomal recessive [1]
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References

1 KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome. Genome Biol. 2015 Dec 29;16:293. doi: 10.1186/s13059-015-0858-z.