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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 2
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Accession:DOID:0080962 term browser browse the term
Definition:A spondyloepimetaphyseal dysplasia that is has_material_basis_in homozygous or compound heterozygous mutation in the POP1 gene on chromosome 8q22. (DO)
Synonyms:exact_synonym: ANXD2;   POP1-RELATED CONDITION
 primary_id: OMIM:617396
 alt_id: DOID:9005915

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anauxetic dysplasia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pop1 POP1 homolog, ribonuclease P/MRP subunit ISO ClinVar Annotator: match by term: Anauxetic dysplasia 2 | ClinVar Annotator: match by term: POP1-related condition OMIM
ClinVar		 PMID:21455487 PMID:25741868 PMID:27380734 PMID:28067412 PMID:28492532 More... NCBI chrNW_004955417:13,823,027...13,856,448
Ensembl chrNW_004955417:13,823,057...13,856,448 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      endocrine system disease 5498
        Dwarfism 780
          anauxetic dysplasia 50
            anauxetic dysplasia 2 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      musculoskeletal system disease 7250
        connective tissue disease 4916
          bone disease 3596
            bone development disease 2149
              osteochondrodysplasia 827
                spondyloepimetaphyseal dysplasia 82
                  anauxetic dysplasia 50
                    anauxetic dysplasia 2 1
paths to the root