Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

RGD ID: 1305077
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Pibf1
Name: progesterone immunomodulatory binding factor 1
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)
Pibf1 ISOPIBF1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: CephalocelePMID:25741868 PMID:26167768 PMID:30858804 PMID:31474318
Go Back to source page   Continue to Ontology report