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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:Penttinen-Aula Syndrome
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Accession:DOID:9004860 term browser browse the term
Synonyms:exact_synonym: PENTT;   Penttinen syndrome;   premature aging syndrome Penttinen type
 primary_id: MESH:C536653
 alt_id: OMIM:601812



show annotations for term's descendants           Sort by:
Penttinen-Aula Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdgfrb platelet derived growth factor receptor beta ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Premature aging syndrome, Penttinen type
OMIM
CTD
ClinVar
PMID:9056558 PMID:9536098 PMID:15054839 PMID:16199547 PMID:17576681 More... NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21121
    syndrome 10792
      Penttinen-Aula Syndrome 1
Path 2
Term Annotations click to browse term
  disease 21121
    disease of anatomical entity 18204
      Skin and Connective Tissue Diseases 7398
        connective tissue disease 5728
          bone disease 4240
            bone remodeling disease 494
              bone resorption disease 375
                Osteolysis 37
                  Acro-Osteolysis 20
                    Penttinen-Aula Syndrome 1
paths to the root