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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: MIM:618853
 alt_id: DOID:9000259


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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 OMIM
ClinVar		 PMID:25741868 PMID:26633546 PMID:29620724 PMID:31250547 NCBI chr16:44,544,645...44,559,994
Ensembl chr16:44,544,664...44,557,647 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16223
    disease of anatomical entity 15842
      endocrine system disease 6542
        Dwarfism 873
          anauxetic dysplasia 58
            anauxetic dysplasia 3 1
Path 2
Term Annotations click to browse term
  disease 16223
    disease of anatomical entity 15842
      musculoskeletal system disease 8154
        connective tissue disease 5596
          bone disease 4042
            bone development disease 2365
              osteochondrodysplasia 874
                spondyloepimetaphyseal dysplasia 90
                  anauxetic dysplasia 58
                    anauxetic dysplasia 3 1
paths to the root