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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 6
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Accession:DOID:0060798 term browser browse the term
Definition:A hypomyelinating leukodystrophy characterized by infant or early childhood onset of delayed motor development and gait instability, followed by extrapyramidal movement disorders, progressive spastic tetraplegia, ataxia, hypomyelination, cerebellar atrophy, and atrophy or disappearance of the putamen that has_material_basis_in heterozygous mutation in the TUBB4A gene on chromosome 19p13. (DO)
Synonyms:exact_synonym: H-ABC;   HABC;   HLD6;   Leukodystrophy, Hypomyelinating, With Atrophy Of The Basal Ganglia And Cerebellum;   hypomyelination with atrophy of basal ganglia and cerebellum
 primary_id: MESH:C567314
 alt_id: OMIM:612438;   RDO:0015422
 xref: ORDO:139441
For additional species annotation, visit the Alliance of Genome Resources.


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hypomyelinating leukodystrophy 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb4a tubulin beta 4A class IVa ISO OMIM NCBI chrNW_004955495:3,134,181...3,138,725
Ensembl chrNW_004955495:3,133,429...3,139,552
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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
          monogenic disease 5209
            autosomal genetic disease 4496
              autosomal dominant disease 2912
                hypomyelinating leukodystrophy 6 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 6 1
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