Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation - 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:	Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation	go back to main search page
Accession:	DOID:9007747	browse the term
Synonyms:	exact_synonym:	LBSL; LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION; Mitochondrial Aspartyl-tRNA Synthetase Deficiency
	primary_id:	MESH:C567009; RDO:0015198
	alt_id:	MIM:611105
	xref:	NCI:C188991

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Genes (2)

Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Cenpl

centromere protein L

ISO

ClinVar Annotator: match by term: Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation

ClinVar

NCBI chr13:73,337,235...73,352,115
Ensembl chr13:73,337,257...73,352,114

Dars2

aspartyl-tRNA synthetase 2 (mitochondrial)

ISO

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation

OMIM
CTD
ClinVar

PMID:9536098 PMID:16199547 PMID:17384640 PMID:17576681 PMID:19592391 More...

NCBI chr13:73,308,726...73,336,558
Ensembl chr13:73,308,726...73,336,934

Term paths to the root

Path 1
Term	Annotations
disease	19100
Nutritional and Metabolic Diseases	8520
disease of metabolism	8520
mitochondrial metabolism disease	817
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation	2
Path 2
Term	Annotations
disease	19100
Developmental Disease	14598
Congenital, Hereditary, and Neonatal Diseases and Abnormalities	13613
genetic disease	13275
inherited metabolic disorder	6605
mitochondrial metabolism disease	817
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation	2

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

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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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RGD DISEASE ONTOLOGY - ANNOTATIONS