Details of Disease

General Information of Disease (ID: DIS0VU5L)

Disease Name Meckel syndrome, type 9
Synonyms MKS9; Meckel syndrome, type 9; B9D1 Meckel syndrome; meckel syndrome 9; Meckel syndrome caused by mutation in B9D1
Definition Any Meckel syndrome in which the cause of the disease is a mutation in the B9D1 gene.
Disease Hierarchy
DISXPHOY: Meckel syndrome
DIS0VU5L: Meckel syndrome, type 9
Disease Identifiers
MONDO ID
MONDO_0013630
UMLS CUI
C3280155
OMIM ID
614209
MedGen ID
481785

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
B9D1 OTWTXO75 Strong Autosomal recessive [1]
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References

1 B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis. Hum Mol Genet. 2011 Jul 1;20(13):2524-34. doi: 10.1093/hmg/ddr151. Epub 2011 Apr 14.