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GENE - TERM ANNOTATION REPORT

RGD ID: 2368
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Cnp
Name: 2',3'-cyclic nucleotide 3' phosphodiesterase
Acc ID: DOID:0112153
Term: hypomyelinating leukodystrophy 20
Definition: A hypomyelinating leukodystrophy characterized by progressive loss of developmental milestones starting at about 12 to 16 months of age after normal early development that has_material_basis_in homozygous or compound heterozygous mutation in CNP on chromosome 17q21.2. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/32128616/ "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)
Cnp ISOCNP (Homo sapiens)7240710OMIM  
Cnp ISOCNP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 20PMID:25741868 PMID:32128616
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