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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 20
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Accession:DOID:0112153 term browser browse the term
Definition:A hypomyelinating leukodystrophy characterized by progressive loss of developmental milestones starting at about 12 to 16 months of age after normal early development that has_material_basis_in homozygous or compound heterozygous mutation in CNP on chromosome 17q21.2. (DO)
Synonyms:exact_synonym: HLD20
 primary_id: OMIM:619071
For additional species annotation, visit the Alliance of Genome Resources.



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hypomyelinating leukodystrophy 20 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 20 OMIM
ClinVar
PMID:32128616 NCBI chr10:85,511,164...85,517,723
Ensembl chr10:85,511,160...85,517,720
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    Developmental Disease 12858
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11550
        genetic disease 11085
          monogenic disease 8558
            autosomal genetic disease 7555
              autosomal recessive disease 4613
                hypomyelinating leukodystrophy 20 1
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      nervous system disease 13146
        central nervous system disease 11274
          brain disease 10560
            Metabolic Brain Diseases 854
              Metabolic Brain Diseases, Inborn 742
                Hereditary Central Nervous System Demyelinating Diseases 72
                  hypomyelinating leukodystrophy 43
                    hypomyelinating leukodystrophy 20 1
paths to the root