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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 1
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Accession:DOID:0070015 term browser browse the term
Definition:A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the NOLA3 gene on chromosome 15q14. (DO)
Synonyms:exact_synonym: DKCB1
 primary_id: OMIM:224230


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autosomal recessive dyskeratosis congenita 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NHP2 NHP2 ribonucleoprotein ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1 ClinVar PMID:18523010 PMID:20301779 PMID:25741868 PMID:28492532 PMID:31681265 NCBI chr 2:80,223,439...80,227,614 JBrowse link
G NOP10 NOP10 ribonucleoprotein ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1 OMIM
ClinVar		 PMID:17507419 PMID:20301779 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 7:80,161,024...80,162,299
Ensembl chr 7:80,161,096...80,164,328 		JBrowse link
G RMND5B required for meiotic nuclear division 5 homolog B ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1 ClinVar PMID:18523010 PMID:20301779 PMID:25741868 PMID:28492532 NCBI chr 2:80,226,047...80,247,358
Ensembl chr 2:80,225,496...80,246,945 		JBrowse link
G SLC12A6 solute carrier family 12 member 6 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1 ClinVar NCBI chr 7:80,164,788...80,266,335
Ensembl chr 7:80,164,911...80,268,323 		JBrowse link
G TERT telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1 ClinVar PMID:17785587 PMID:20301779 PMID:25741868 PMID:26887940 PMID:28192371 More... NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    sensory system disease 6507
      skin disease 3703
        Genetic Skin Diseases 1778
          dyskeratosis congenita 318
            Autosomal Recessive Dyskeratosis Congenita 26
              autosomal recessive dyskeratosis congenita 1 5
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      nervous system disease 12960
        Neurologic Manifestations 9418
          sensory system disease 6507
            skin disease 3703
              Genetic Skin Diseases 1778
                dyskeratosis congenita 318
                  Autosomal Recessive Dyskeratosis Congenita 26
                    autosomal recessive dyskeratosis congenita 1 5
paths to the root