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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 15
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Accession:DOID:9009193 term browser browse the term
Definition:An autosomal recessive neurodegenerative disorder with onset of motor and cognitive impairment in the first or second decade of life, characterized by dystonia, ataxia, spasticity, and dysphagia. (OMIM)
Synonyms:exact_synonym: HLD15
 primary_id: OMIM:617951
For additional species annotation, visit the Alliance of Genome Resources.


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Hypomyelinating Leukodystrophy 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPRS1 glutamyl-prolyl-tRNA synthetase 1 ISO OMIM NCBI chr10:9,579,301...9,648,416
Ensembl chr10:9,579,301...9,648,414
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12693
    Developmental Diseases 8989
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7861
        genetic disease 7410
          Nervous System Heredodegenerative Disorders 1874
            Hereditary Central Nervous System Demyelinating Diseases 43
              hypomyelinating leukodystrophy 26
                Hypomyelinating Leukodystrophy 15 1
Path 2
Term Annotations click to browse term
  disease 12693
    disease of anatomical entity 12233
      nervous system disease 9972
        central nervous system disease 8426
          brain disease 7782
            Metabolic Brain Diseases 554
              Metabolic Brain Diseases, Inborn 490
                Hereditary Central Nervous System Demyelinating Diseases 43
                  hypomyelinating leukodystrophy 26
                    Hypomyelinating Leukodystrophy 15 1
paths to the root