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GENE - TERM ANNOTATION REPORT

RGD ID: 1310693
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Rsph9
Name: radial spoke head component 9
Acc ID: DOID:0050444
Term: infantile Refsum disease
Definition: A peroxisomal disease that is characterized by neurological impairment, intellectual disability, hepatosplenomegaly and ichthyosis and results from the accumulation of very long chain fatty acids and phytanic acid, secondary to mutation in the PEX genes. (DO)
Definition Source(s): https://www.ninds.nih.gov/Disorders/All-Disorders/Infantile-Refsum-Disease-Information-Page "DO" "DO"
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)
Rsph9 ISORSPH9 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATALPMID:19877282 PMID:21031596 PMID:28492532 PMID:8670792
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