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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 11
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Accession:DOID:0060792 term browser browse the term
Definition:A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of delayed psychomotor development and other neurologic features associated with hypomyelination that has_material_basis_in homozygous or compound heterozygous mutation in the POLR1C gene on chromosome 6p21. (DO)
Synonyms:exact_synonym: 4H leukodystrophy 3;   HLD11
 broad_synonym: POLR1C-related disorder;   POLR1C-related disorders
 primary_id: OMIM:616494


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hypomyelinating leukodystrophy 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr1c RNA polymerase I and III subunit C ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 11		 OMIM
CTD
ClinVar		 PMID:610060 PMID:11013442 PMID:21131976 PMID:22563501 PMID:22855961 More... NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          monogenic disease 10363
            autosomal genetic disease 9517
              autosomal recessive disease 6583
                hypomyelinating leukodystrophy 11 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            Metabolic Brain Diseases 1487
              Metabolic Brain Diseases, Inborn 1354
                Hereditary Central Nervous System Demyelinating Diseases 113
                  hypomyelinating leukodystrophy 61
                    hypomyelinating leukodystrophy 11 1
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