Details of Disease

General Information of Disease (ID: DIS5DO84)

Disease Name Meckel syndrome, type 10
Synonyms JBTS34; MKS10; Joubert syndrome 34; meckel syndrome 10; B9D2 Meckel syndrome; Meckel syndrome, type 10; Meckel syndrome caused by mutation in B9D2
Definition Any Meckel syndrome in which the cause of the disease is a mutation in the B9D2 gene.
Disease Hierarchy
DISXPHOY: Meckel syndrome
DIS5DO84: Meckel syndrome, type 10
Disease Identifiers
MONDO ID
MONDO_0013609
UMLS CUI
C3280036
OMIM ID
614175
MedGen ID
481666

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
B9D2 OT5SS4P8 Strong Autosomal recessive [1]
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References

1 Disruption of a ciliary B9 protein complex causes Meckel syndrome. Am J Hum Genet. 2011 Jul 15;89(1):94-110. doi: 10.1016/j.ajhg.2011.06.003.