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MIRAGE
anencephaly

Summary
Definition
A congenital nervous system abnormality characterized by failure of the anterior neuropore to close resulting in partial or complete absence of the cranial vault accompanied by absence of overlying tissues, including the brain and cerebral hemispheres, skull and scalp.
Super Class
congenital nervous system abnormality
Disease Ontology
DOID:0060668
Mondo Disease Ontology
MeSH
ORDO
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
23322 RPGRIP1L RPGRIP1 like
81788 NUAK2 NUAK family kinase 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
13640 Efna5 ephrin A5
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
O08543 Ephrin-A5
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: April 7, 2025