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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by term: PENTTINEN SYNDROME | ClinVar Annotator: match by term: Premature aging syndrome, Penttinen type OMIM
ClinVar		 PMID:9056558 PMID:9536098 PMID:15054839 PMID:16199547 PMID:17576681 More... NCBI chr18:54,500,002...54,538,843
Ensembl chr18:54,499,964...54,538,843 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20983
    syndrome 10787
      Penttinen-Aula Syndrome 1
Path 2
Term Annotations click to browse term
  disease 20983
    disease of anatomical entity 18174
      Skin and Connective Tissue Diseases 7433
        connective tissue disease 5734
          bone disease 4262
            bone remodeling disease 482
              bone resorption disease 369
                Osteolysis 36
                  Acro-Osteolysis 20
                    Penttinen-Aula Syndrome 1
paths to the root