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parietal foramina

Disease Summary
Associated Targets (2)
Tbio

2


Explore Associated Targets
Mondo Description Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies.
Disease Ontology Description An inherited neural tube defect that is characterized by enlarged openings in the parietal bones of the skull, has_material_basis_in mutation in the ALX4 gene or MSX2 gene.
Mondo Term and Equivalent IDs
MONDO:0018953:  parietal foramina
MESH:C566826: 
OMIMPS:168500: 
Orphanet:60015: 
SCTID:718099006: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)