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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:An autosomal recessive neurologic disorder characterized by onset of delayed psychomotor development, spasticity, and nystagmus in the first year of life. (OMIM)
Synonyms:exact_synonym: HLD9;   RARS-related autosomal recessive hypomyelinating leukodystrophy
 primary_id: OMIM:616140
 alt_id: RDO:9001315
 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 OMIM:616140
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 9
OMIM
ClinVar
PMID:24777941 PMID:25741868 PMID:27848944 PMID:28492532 PMID:28905880 PMID:30311386 PMID:30791064 NCBI chr10:20,633,630...20,658,074
Ensembl chr10:20,633,632...20,658,100
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal recessive disease 2628
                hypomyelinating leukodystrophy 9 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          brain disease 8448
            Metabolic Brain Diseases 576
              Metabolic Brain Diseases, Inborn 506
                Hereditary Central Nervous System Demyelinating Diseases 42
                  hypomyelinating leukodystrophy 26
                    hypomyelinating leukodystrophy 9 1
paths to the root