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GENE - TERM ANNOTATION REPORT

RGD ID: 1311099
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Rpgrip1l
Name: Rpgrip1-like
Acc ID: DOID:9000983
Term: Encephalocele
Definition: Brain tissue herniation through a congenital or acquired defect in the skull. The majority of congenital encephaloceles occur in the occipital or frontal regions. Clinical features include a protuberant mass that may be pulsatile. The quantity and location of protruding neural tissue determines the type and degree of neurologic deficit. Visual defects, psychomotor developmental delay, and persistent motor deficits frequently occur.
Definition Source(s): MESH:D004677
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Rpgrip1l ISORPGRIP1L (Homo sapiens)11073359RGDassociated with Meckel Syndrome, Type 5;DNA:mutations:exons: 
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