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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 ClinVar Annotator: match by null
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 6
ClinVar
OMIM
PMID:3156966, PMID:3405308, PMID:7983175, PMID:12372733, PMID:16707859, PMID:18466252, PMID:18851904, PMID:20191564, PMID:21956287, PMID:23424103, PMID:23582646, PMID:23595291, PMID:24088041, PMID:24526230, PMID:24706558, PMID:24742798, PMID:24785942, PMID:24850488, PMID:24974158, PMID:25085639, PMID:25168210, PMID:25326635, PMID:25326637, PMID:25356970, PMID:25497598, PMID:25545912, PMID:25741868, PMID:25772097, PMID:26318963, PMID:26633545, PMID:26643067, PMID:27188707, PMID:28492532, PMID:28592043, PMID:28655586, PMID:28973395, PMID:29451896, PMID:30079973, PMID:32581362 NCBI chr 9:9,961,020...9,968,420
Ensembl chr 9:9,961,021...9,968,486
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal dominant disease 2996
                hypomyelinating leukodystrophy 6 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        central nervous system disease 9008
          brain disease 8330
            Metabolic Brain Diseases 574
              Metabolic Brain Diseases, Inborn 503
                Hereditary Central Nervous System Demyelinating Diseases 40
                  hypomyelinating leukodystrophy 24
                    hypomyelinating leukodystrophy 6 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.