Send us a Message



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

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:Proteasome-Associated Autoinflammatory Syndrome 5
go back to main search page
Accession:DOID:9009033 term browser browse the term
Status:
This term is obsolete. We suggest searching for the text of the ontology term or for a keyword rather than searching for the ontology ID. For more information, please contact us.
Definition:A proteasome-associated autoinflammatory syndrome caused by homozygous mutation in the PSMB10 gene on chromosome 16q22. (OMIM)
Synonyms:exact_synonym: PRAAS5
 replaced_by: DOID:0060919



show annotations for term's descendants           Sort by:

Term paths to the root
paths to the root