congenital structural myopathy - Ontology Report

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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:	congenital structural myopathy	go back to main search page
Accession:	DOID:422	browse the term
Definition:	A heterogeneous group of diseases characterized by the early onset of hypotonia, developmental delay of motor skills, non-progressive weakness. Each of these disorders is associated with a specific histologic muscle fiber abnormality.
Synonyms:	exact_synonym:	Fiber Type Disproportion Myopathy, Congenital; MTM1; Myotubular Myopathies; centronuclear myopathy, autosomal dominant; congenital non progressive myopathies; congenital non-progressive myopathy; congenital structural myopathies; myotubular myopathy; myotubular myopathy 1
	primary_id:	MESH:D020914
	alt_id:	OMIA:001374
	xref:	NCI:C84648
For additional species annotation, visit the Alliance of Genome Resources.

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Genes (151)

congenital structural myopathy

Symbol

Object Name

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Evidence

Notes

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PubMed Reference(s)

RGD Reference(s)

Position

Acta1

actin, alpha 1, skeletal muscle

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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