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ONTOLOGY REPORT - ANNOTATIONS


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 JBrowse Chr Start Stop Reference
G Dars aspartyl-tRNA synthetase JBrowse link 13 45,074,067 45,127,815 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15984
    disease of anatomical entity 15262
      nervous system disease 10752
        central nervous system disease 8839
          paraplegia 143
            Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity 1
Path 2
Term Annotations click to browse term
  disease 15984
    disease of anatomical entity 15262
      nervous system disease 10752
        central nervous system disease 8839
          brain disease 8128
            Metabolic Brain Diseases 571
              Metabolic Brain Diseases, Inborn 501
                Hereditary Central Nervous System Demyelinating Diseases 41
                  Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.