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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 Eprs glutamyl-prolyl-tRNA synthetase ISO ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 15 ClinVar
OMIM
PMID:25741868 PMID:29576217 NCBI chr13:103,300,911...103,371,651
Ensembl chr13:103,300,932...103,371,577
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          Nervous System Heredodegenerative Disorders 1915
            Hereditary Central Nervous System Demyelinating Diseases 41
              hypomyelinating leukodystrophy 25
                Hypomyelinating Leukodystrophy 15 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          brain disease 8372
            Metabolic Brain Diseases 579
              Metabolic Brain Diseases, Inborn 509
                Hereditary Central Nervous System Demyelinating Diseases 41
                  hypomyelinating leukodystrophy 25
                    Hypomyelinating Leukodystrophy 15 1
paths to the root