Gene Term Annotation Report - Rat Genome Database

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GENE - TERM ANNOTATION REPORT

RGD ID:	12599760
Species:	Ictidomys tridecemlineatus
RGD Object:	Gene
Symbol:	Omd
Name:	osteomodulin

Acc ID:	DOID:0070349
Term:	spinal muscular atrophy with predominant lower extremity 2A
Definition:	A spinal muscular atrophy with lower extremity predominance that is characterized by early childhood onset of muscle weakness and atrophy predominantly affecting the proximal and distal muscles of the lower extremity, although some patients may show upper extremity involvement and that has_material_basis_in heterozygous mutation in the BICD2 gene on chromosome 9q22. (DO)
Definition Source(s):	https://pubmed.ncbi.nlm.nih.gov/23664120/ "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 Symbol	Qualifier	Evidence	With	Reference	Source	Notes	Original Reference(s)
Omd		ISO	OMD (Homo sapiens)	8554872	ClinVar	ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant	PMID:28492532

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