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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: Premature aging syndrome, Penttinen type OMIM
ClinVar
PMID:9056558, PMID:23720404, PMID:23731537, PMID:23731542, PMID:25158255, PMID:25741868, PMID:26279204, PMID:26455322, PMID:28183292, PMID:28334876, PMID:28492532, PMID:30311386 NCBI chr18:56,364,586...56,406,381
Ensembl chr18:56,364,620...56,406,381
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      Penttinen-Aula Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      Skin and Connective Tissue Diseases 5474
        connective tissue disease 4073
          bone disease 3528
            bone remodeling disease 428
              bone resorption disease 353
                Osteolysis 23
                  Acro-Osteolysis 8
                    Penttinen-Aula Syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.