Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   


RGD uses the Human Disease Ontology (DO, 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
go back to main search page
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.

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 ClinVar Annotator: match by term: Premature aging syndrome, Penttinen type OMIM
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
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Penttinen-Aula Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Skin and Connective Tissue Diseases 5474
        connective tissue disease 4099
          bone disease 3528
            bone remodeling disease 428
              bone resorption disease 353
                Osteolysis 23
                  Acro-Osteolysis 8
                    Penttinen-Aula Syndrome 1
paths to the root


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