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GENE - TERM ANNOTATION REPORT

CRRD ID: 2507
Species: Rattus norvegicus
CRRD Object: Gene
Symbol: Dmd
Name: dystrophin
Acc ID: DOID:0060794
Term: hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism
Definition: A Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadismhypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hildhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression that has_material_basis_in homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22.
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/12605447, https://www.ncbi.nlm.nih.gov/pubmed/21855841
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.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
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