Details of Disease

General Information of Disease (ID: DISOPIWR)

Disease Name Parietal foramina 2
Synonyms PFM2; ALX4 parietal foramina; parietal foramina caused by mutation in ALX4; parietal foramina type 2; parietal foramina 2
Definition Any parietal foramina in which the cause of the disease is a mutation in the ALX4 gene.
Disease Hierarchy
DISS1N5X: Parietal foramina
DISOPIWR: Parietal foramina 2
Disease Identifiers
MONDO ID
MONDO_0012309
UMLS CUI
C1865044
OMIM ID
609597
MedGen ID
355358

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
ALX4 OTNS9A29 Definitive Autosomal dominant [1]
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References

1 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.