autosomal recessive limb-girdle muscular dystrophy - 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:	autosomal recessive limb-girdle muscular dystrophy	go back to main search page
Accession:	DOID:0110274	browse the term
Definition:	A limb-girdle muscular dystrophy has_material_basis_in autosomal recessive inheritance. (DO)
Synonyms:	exact_synonym:	recessive limb-girdle muscular dystrophy
	primary_id:	MESH:C538640
	xref:	OMIM:PS253600; ORDO:102015
For additional species annotation, visit the Alliance of Genome Resources.

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Genes (103)

autosomal recessive limb-girdle muscular dystrophy

Symbol

Object Name

Qualifiers

Evidence

Notes

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PubMed Reference(s)

RGD Reference(s)

Position

Ano5

anoctamin 5

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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