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autosomal recessive dyskeratosis congenita 2 - Ontology Report - Rat Genome Database

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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 2
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Accession:DOID:0070017 term browser browse the term
Definition:A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the NOLA2 gene on chromosome 5q35.3. (DO)
Synonyms:exact_synonym: DKCB2;   NHP2-RELATED CONDITION
 primary_id: MIM:613987

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show annotations for term's descendants           Sort by:
autosomal recessive dyskeratosis congenita 2 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 2 | ClinVar Annotator: match by term: NHP2-related condition OMIM
ClinVar		 PMID:18523010 PMID:20301779 PMID:25741868 PMID:28492532 PMID:31681265 More... NCBI chr10:35,877,057...35,880,399
Ensembl chr10:35,877,054...35,882,545 		JBrowse link
G Rmnd5b required for meiotic nuclear division 5 homolog B ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 2 | ClinVar Annotator: match by term: NHP2-related condition ClinVar PMID:18523010 PMID:20301779 PMID:25741868 PMID:28492532 NCBI chr10:35,881,250...35,892,322
Ensembl chr10:35,881,268...35,892,265 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19143
    sensory system disease 7373
      skin disease 4308
        Genetic Skin Diseases 1869
          dyskeratosis congenita 331
            Autosomal Recessive Dyskeratosis Congenita 25
              autosomal recessive dyskeratosis congenita 2 2
Path 2
Term Annotations click to browse term
  disease 19143
    disease of anatomical entity 18456
      nervous system disease 14362
        Neurologic Manifestations 10461
          sensory system disease 7373
            skin disease 4308
              Genetic Skin Diseases 1869
                dyskeratosis congenita 331
                  Autosomal Recessive Dyskeratosis Congenita 25
                    autosomal recessive dyskeratosis congenita 2 2
paths to the root