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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:Nestor-Guillermo Progeria Syndrome
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Accession:DOID:9000907 term browser browse the term
Synonyms:exact_synonym: NGPS;   PROGERIA SYNDROME, CHILDHOOD-ONSET, WITH OSTEOLYSIS;   PSCOO
 primary_id: OMIM:614008
For additional species annotation, visit the Alliance of Genome Resources.



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Nestor-Guillermo Progeria Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Banf1 BAF nuclear assembly factor 1 ISO ClinVar Annotator: match by term: Nestor-Guillermo progeria syndrome OMIM
ClinVar
PMID:21549337 PMID:23720404 PMID:28492532 NCBI chr 1:202,672,170...202,674,215
Ensembl chr 1:202,671,305...202,674,188
JBrowse link
G Eif1ad eukaryotic translation initiation factor 1A domain containing ISO ClinVar Annotator: match by term: Nestor-Guillermo progeria syndrome ClinVar NCBI chr 1:202,674,362...202,679,662
Ensembl chr 1:202,674,185...202,679,658
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    syndrome 9456
      Nestor-Guillermo Progeria Syndrome 2
Path 2
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        genetic disease 10994
          monogenic disease 8513
            autosomal genetic disease 7518
              progeria 19
                Progeria Syndrome, Childhood-Onset 3
                  Nestor-Guillermo Progeria Syndrome 2
paths to the root