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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 Nishimura type
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Accession:DOID:0112288 term browser browse the term
Definition:A spondyloepiphyseal dysplasia characterized by disproportionate short stature with short limbs, small hands and feet, midface hypoplasia with a small nose, mild spondylar dysplasia, delayed epiphyseal ossification of the hip and knee, and severe brachydactyly with cone-shaped phalangeal epiphyses that has_material_basis_in heterozygous gain-of-function mutation in MIR140 on chromosome 16q22.1. (DO)
Synonyms:exact_synonym: SEDN;   SPONDYLOEPIPHYSEAL DYSPLASIA MIR140 TYPE NISHIMURA
 primary_id: OMIM:618618
 alt_id: DOID:9007564
For additional species annotation, visit the Alliance of Genome Resources.



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spondyloepiphyseal dysplasia Nishimura type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir140 microRNA 140 ISO ClinVar Annotator: match by term: SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE OMIM
ClinVar
PMID:30804514 NCBI chr19:35,465,577...35,465,675
Ensembl chr19:35,465,577...35,465,675
JBrowse link
G Wwp2 WW domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, nishimura type ClinVar PMID:30804514 NCBI chr19:35,346,826...35,471,251
Ensembl chr19:35,346,814...35,472,699
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      bone development disease 1425
        osteochondrodysplasia 478
          spondyloepiphyseal dysplasia 13
            spondyloepiphyseal dysplasia Nishimura type 2
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      musculoskeletal system disease 6466
        connective tissue disease 4447
          bone disease 3124
            bone development disease 1425
              osteochondrodysplasia 478
                spondyloepiphyseal dysplasia 13
                  spondyloepiphyseal dysplasia Nishimura type 2
paths to the root