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GENE - TERM ANNOTATION REPORT

RGD ID: 1596090
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Rbbp8nl
Name: RBBP8 N-terminal like
Acc ID: DOID:14503
Term: neuronal ceroid lipofuscinosis
Definition: A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluorescent wax-like lipid materials (CEROID; LIPOFUSCIN) in neurons. There are several subtypes based on mutations of the various genes, time of disease onset, and severity of the neurological defects such as progressive DEMENTIA; SEIZURES; and visual failure.
Definition Source(s): MESH:D009472
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)
Rbbp8nl ISORBBP8NL (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ceroid storage diseasePMID:25921748 PMID:28492532 PMID:30866059
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