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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:Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity
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Accession:DOID:9006484 term browser browse the term
Synonyms:exact_synonym: ASPARTYL-tRNA SYNTHETASE DEFICIENCY;   HBSL
 primary_id: OMIM:615281;   RDO:9000890
For additional species annotation, visit the Alliance of Genome Resources.


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Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dars1 aspartyl-tRNA synthetase 1 ISO ClinVar Annotator: match by OMIM:615281
ClinVar Annotator: match by term: Hypomyelination with brainstem and spinal cord involvement and leg spasticity
OMIM
ClinVar
PMID:23643384 PMID:25741868 NCBI chr13:45,074,067...45,127,815
Ensembl chr13:45,074,072...45,127,815
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        central nervous system disease 9096
          paraplegia 144
            Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        central nervous system disease 9096
          brain disease 8405
            Metabolic Brain Diseases 577
              Metabolic Brain Diseases, Inborn 507
                Hereditary Central Nervous System Demyelinating Diseases 41
                  Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity 1
paths to the root