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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 Kondo-Fu type
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Accession:DOID:0112283 term browser browse the term
Definition:A spondyloepiphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in MBTPS1 on chromosome 16q23.3-q24.1. (DO)
Synonyms:exact_synonym: SED with elevated blood lysosomal enzymes;   SEDKF
 primary_id: OMIM:618392
 alt_id: DOID:9003246
For additional species annotation, visit the Alliance of Genome Resources.



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spondyloepiphyseal dysplasia Kondo-Fu type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mbtps1 membrane-bound transcription factor peptidase, site 1 ISO ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, kondo-fu type OMIM
ClinVar
PMID:25741868 PMID:30046013 PMID:30099045 PMID:32064983 NCBI chr19:47,561,598...47,612,769
Ensembl chr19:47,561,598...47,612,791
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    Developmental Disease 12858
      bone development disease 1807
        osteochondrodysplasia 608
          spondyloepiphyseal dysplasia 16
            spondyloepiphyseal dysplasia Kondo-Fu type 1
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      musculoskeletal system disease 7162
        connective tissue disease 4954
          bone disease 3629
            bone development disease 1807
              osteochondrodysplasia 608
                spondyloepiphyseal dysplasia 16
                  spondyloepiphyseal dysplasia Kondo-Fu type 1
paths to the root