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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 ClinVar
OMIM
PMID:25741868 PMID:30046013 NCBI chr19:52,146,507...52,206,310
Ensembl chr19:52,146,808...52,206,310
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    Developmental Disease 10897
      bone development disease 1413
        osteochondrodysplasia 474
          spondyloepiphyseal dysplasia 12
            spondyloepiphyseal dysplasia Kondo-Fu type 1
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      musculoskeletal system disease 6400
        connective tissue disease 4420
          bone disease 3103
            bone development disease 1413
              osteochondrodysplasia 474
                spondyloepiphyseal dysplasia 12
                  spondyloepiphyseal dysplasia Kondo-Fu type 1
paths to the root