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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 16
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Accession:DOID:9009170 term browser browse the term
Definition:An autosomal dominant neurologic disorder characterized by onset of hypotonia, nystagmus, and mildly delayed motor development in infancy. Affected individuals have motor disabilities, including ataxic or broad-based gait, hyperreflexia, intention tremor, dysmetria, and a mild pyramidal syndrome. (OMIM)
Synonyms:exact_synonym: HLD16;   hypomyelinating leukodystrophy-16
 primary_id: OMIM:617964
For additional species annotation, visit the Alliance of Genome Resources.


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Hypomyelinating Leukodystrophy 16 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem106b transmembrane protein 106B ISO OMIM NCBI chrNW_004955432:18,619,418...18,644,876
Ensembl chrNW_004955432:18,619,413...18,639,151
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11876
    Developmental Diseases 8482
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7458
        genetic disease 7033
          Nervous System Heredodegenerative Disorders 1757
            Hereditary Central Nervous System Demyelinating Diseases 40
              hypomyelinating leukodystrophy 24
                Hypomyelinating Leukodystrophy 16 1
Path 2
Term Annotations click to browse term
  disease 11876
    disease of anatomical entity 11432
      nervous system disease 9351
        central nervous system disease 7911
          brain disease 7304
            Metabolic Brain Diseases 520
              Metabolic Brain Diseases, Inborn 456
                Hereditary Central Nervous System Demyelinating Diseases 40
                  hypomyelinating leukodystrophy 24
                    Hypomyelinating Leukodystrophy 16 1
paths to the root