Details of Disease

General Information of Disease (ID: DISQHJZI)

Disease Name Parietal foramina 1
Synonyms
PFM; parietal foramina, symmetric; parietal foramina; foramina parietalia permagna; PFM1; cranium bifidum occultum; cranium bifidum, hereditary; catlin Marks; parietal foramina 1; parietal foramina caused by mutation in MSX2; MSX2 parietal foramina
Definition Any parietal foramina in which the cause of the disease is a mutation in the MSX2 gene.
Disease Hierarchy
DISS1N5X: Parietal foramina
DISQHJZI: Parietal foramina 1
Disease Identifiers
MONDO ID
MONDO_0008197
UMLS CUI
C1868599
OMIM ID
168500
MedGen ID
401480

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
MSX2 OT1WDKE1 Strong Autosomal dominant [1]
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References

1 Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification. Nat Genet. 2000 Apr;24(4):387-90. doi: 10.1038/74224.