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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:Spondyloepiphyseal Dysplasia, Stanescu Type
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Accession:DOID:9004463 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This term is obsolete.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:Spondyloepiphyseal dysplasia with accumulation of glycoprotein in chondrocytes. Clinical hallmarks include progressive joint contracture with premature degenerative joint disease, particularly in the knee, hip, and finger joints. (OMIM)
Synonyms:exact_synonym: SED, STANESCU TYPE;   SEDSTN;   Stanescu type of spondyloepiphyseal dysplasia
 alt_id: RDO:9001575
 replaced_by: DOID:0112281
For additional species annotation, visit the Alliance of Genome Resources.



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