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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: HLD11
 broad_synonym: POLR1C-related disorder;   POLR1C-related disorders
 primary_id: OMIM:616494
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 11 OMIM
ClinVar
PMID:610060 PMID:11013442 PMID:21131976 PMID:22563501 PMID:25741868 PMID:26151409 PMID:26467025 PMID:28327206 PMID:28492532 PMID:29567474 NCBI chr 9:17,120,759...17,124,871
Ensembl chr 9:17,120,759...17,124,871
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        genetic disease 8389
          monogenic disease 6330
            autosomal genetic disease 5485
              autosomal recessive disease 3224
                hypomyelinating leukodystrophy 11 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        central nervous system disease 10192
          brain disease 9565
            Metabolic Brain Diseases 586
              Metabolic Brain Diseases, Inborn 516
                Hereditary Central Nervous System Demyelinating Diseases 42
                  hypomyelinating leukodystrophy 26
                    hypomyelinating leukodystrophy 11 1
paths to the root