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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:9003246 term browser browse the term
Synonyms:exact_synonym: SED with elevated blood lysosomal enzymes;   SEDKF
 primary_id: OMIM:618392
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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 ClinVar
OMIM
PMID:25741868, PMID:30046013 NCBI chr19:52,146,507...52,206,310
Ensembl chr19:52,146,808...52,206,310
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      bone development disease 1330
        osteochondrodysplasia 435
          Spondyloepiphyseal Dysplasia, Kondo-Fu Type 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 development disease 1330
              osteochondrodysplasia 435
                Spondyloepiphyseal Dysplasia, Kondo-Fu Type 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.