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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
 xref: MIM:616494;   MONDO:0014666


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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: Hypomyelinating leukodystrophy 11 | ClinVar Annotator: match by term: POLR1C-related disorder OMIM
ClinVar		 PMID:610060 PMID:9536098 PMID:11013442 PMID:17576681 PMID:21131976 More... NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852 		JBrowse link
G Xpo5 exportin 5 ISO ClinVar Annotator: match by term: POLR1C-related disorder ClinVar NCBI chr 9:14,740,182...14,778,171
Ensembl chr 9:14,740,182...14,778,171 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19106
    Developmental Disease 14617
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13628
        genetic disease 13290
          monogenic disease 10876
            autosomal genetic disease 10360
              autosomal recessive disease 6959
                hypomyelinating leukodystrophy 11 2
Path 2
Term Annotations click to browse term
  disease 19106
    disease of anatomical entity 18445
      nervous system disease 14349
        central nervous system disease 12613
          brain disease 11840
            Metabolic Brain Diseases 1512
              Metabolic Brain Diseases, Inborn 1379
                Hereditary Central Nervous System Demyelinating Diseases 119
                  hypomyelinating leukodystrophy 66
                    hypomyelinating leukodystrophy 11 2
paths to the root