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GENE - TERM ANNOTATION REPORT

RGD ID: 11239
Species: Mus musculus
RGD Object: Gene
Symbol: Rho
Name: rhodopsin
Acc ID: DOID:9004832
Term: Congenital Hypomyelinating Neuropathy 2
Definition: An autosomal dominant neurologic disorder characterized by early-onset hypotonia, severely delayed motor development, muscle weakness with areflexia, and severely decreased nerve conduction velocities (NCV) resulting from improper myelination of axons.
Definition Source(s): OMIM:618184
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)
Rho ISORHO (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neuropathy, congenital hypomyelinating, 2PMID:17825553
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