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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:autosomal recessive dyskeratosis congenita 6
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Accession:DOID:0070024 term browser browse the term
Definition:A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the PARN gene on chromosome 16p13.12. (DO)
Synonyms:exact_synonym: DKCB6
 primary_id: OMIM:616353
 alt_id: DOID:9007288


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autosomal recessive dyskeratosis congenita 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PARN poly(A)-specific ribonuclease ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 6 OMIM
ClinVar		 PMID:9536098 PMID:9736620 PMID:16199547 PMID:17576681 PMID:22834816 More... NCBI chr16:13,363,879...13,556,054
Ensembl chr16:14,787,881...14,977,786 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    sensory system disease 6624
      skin disease 3772
        Genetic Skin Diseases 1835
          dyskeratosis congenita 326
            Autosomal Recessive Dyskeratosis Congenita 26
              autosomal recessive dyskeratosis congenita 6 1
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        Neurologic Manifestations 9644
          sensory system disease 6624
            skin disease 3772
              Genetic Skin Diseases 1835
                dyskeratosis congenita 326
                  Autosomal Recessive Dyskeratosis Congenita 26
                    autosomal recessive dyskeratosis congenita 6 1
paths to the root