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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:anauxetic dysplasia 3
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Accession:DOID:0080963 term browser browse the term
Definition:A spondyloepimetaphyseal dysplasia that is characterized by severe short stature, brachydactyly, skin laxity, joint hypermobility, and joint dislocations and that has_material_basis_in homozygous mutation in the NEPRO gene on chromosome 3q13. (DO)
Synonyms:exact_synonym: ANXD3
 primary_id: OMIM:618853
 alt_id: DOID:9000259
For additional species annotation, visit the Alliance of Genome Resources.


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anauxetic dysplasia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nepro nucleolus and neural progenitor protein ISO ClinVar Annotator: match by term: ANAUXETIC DYSPLASIA 3
ClinVar Annotator: match by term: Anauxetic dysplasia 3
ClinVar
OMIM
PMID:25741868 PMID:26633546 PMID:29620724 PMID:31250547 NCBI chr11:55,958,265...55,970,432
Ensembl chr11:55,958,267...55,970,432
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      endocrine system disease 5810
        Dwarfism 495
          anauxetic dysplasia 46
            anauxetic dysplasia 3 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      musculoskeletal system disease 6416
        connective tissue disease 4420
          bone disease 3106
            bone development disease 1414
              osteochondrodysplasia 478
                spondyloepimetaphyseal dysplasia 77
                  anauxetic dysplasia 46
                    anauxetic dysplasia 3 1
paths to the root