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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:hypomyelinating leukodystrophy 9
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Accession:DOID:0060791 term browser browse the term
Definition:A hypomyelinating leukodystrophy characterized by delayed psychomotor development, spasticity, and nystagmus starting in the first year of life that has_material_basis_in compound heterozygous mutation in the RARS gene on chromosome 5q34. (DO)
Synonyms:exact_synonym: HLD9;   RARS-related autosomal recessive hypomyelinating leukodystrophy
 primary_id: OMIM:616140
 xref: ORDO:438114
For additional species annotation, visit the Alliance of Genome Resources.



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hypomyelinating leukodystrophy 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rars1 arginyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 9 OMIM
ClinVar
PMID:24777941 PMID:25741868 PMID:28492532 PMID:28905880 PMID:31737794 More... NCBI chr10:20,270,744...20,295,192
Ensembl chr10:20,270,483...20,295,196
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    Developmental Disease 12988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11719
        genetic disease 11226
          monogenic disease 8779
            autosomal genetic disease 7817
              autosomal recessive disease 4835
                hypomyelinating leukodystrophy 9 1
Path 2
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      nervous system disease 13192
        central nervous system disease 11323
          brain disease 10618
            Metabolic Brain Diseases 853
              Metabolic Brain Diseases, Inborn 743
                Hereditary Central Nervous System Demyelinating Diseases 72
                  hypomyelinating leukodystrophy 43
                    hypomyelinating leukodystrophy 9 1
paths to the root