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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 13
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Accession:DOID:0060795 term browser browse the term
Definition:An autosomal recessive neurodegenerative disorder characterized by infantile onset of delayed psychomotor development, axial hypotonia, and spasticity associated with delayed myelination and periventricular white matter abnormalities on brain imaging. (OMIM)
Synonyms:exact_synonym: HLD13
 primary_id: OMIM:616881
 alt_id: RDO:9001170
For additional species annotation, visit the Alliance of Genome Resources.


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hypomyelinating leukodystrophy 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hikeshi heat shock protein nuclear import factor ISO ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 13 ClinVar
OMIM
PMID:26545878 NCBI chr 1:154,147,098...154,170,429
Ensembl chr 1:154,142,836...154,170,409
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          monogenic disease 5714
            autosomal genetic disease 4732
              autosomal recessive disease 2601
                hypomyelinating leukodystrophy 13 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            Metabolic Brain Diseases 576
              Metabolic Brain Diseases, Inborn 505
                Hereditary Central Nervous System Demyelinating Diseases 42
                  hypomyelinating leukodystrophy 26
                    hypomyelinating leukodystrophy 13 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.