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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 chr 9:81,837,654...81,864,215
Ensembl chr 9:81,837,688...81,864,193
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12693
    Developmental Diseases 8990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7862
        genetic disease 7411
          Nervous System Heredodegenerative Disorders 1874
            Hereditary Central Nervous System Demyelinating Diseases 43
              hypomyelinating leukodystrophy 26
                Hypomyelinating Leukodystrophy 16 1
Path 2
Term Annotations click to browse term
  disease 12693
    disease of anatomical entity 12233
      nervous system disease 9973
        central nervous system disease 8428
          brain disease 7783
            Metabolic Brain Diseases 554
              Metabolic Brain Diseases, Inborn 490
                Hereditary Central Nervous System Demyelinating Diseases 43
                  hypomyelinating leukodystrophy 26
                    Hypomyelinating Leukodystrophy 16 1
paths to the root