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ONTOLOGY REPORT - ANNOTATIONS


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 JBrowse Chr Start Stop Reference
G Tubb4a tubulin, beta 4A class IVa JBrowse link 9 9,961,020 9,968,420 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal dominant disease 2079
                hypomyelinating leukodystrophy 6 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        central nervous system disease 8092
          brain disease 7561
            Metabolic Brain Diseases 471
              Metabolic Brain Diseases, Inborn 406
                Hereditary Central Nervous System Demyelinating Diseases 38
                  hypomyelinating leukodystrophy 22
                    hypomyelinating leukodystrophy 6 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.