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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
 primary_id: OMIM:617396
 alt_id: DOID:9005915
For additional species annotation, visit the Alliance of Genome Resources.



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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: Anauxetic dysplasia 2
ClinVar
OMIM
PMID:21455487 PMID:25741868 PMID:27380734 PMID:28067412 NCBI chr 7:65,705,348...65,733,143
Ensembl chr 7:65,705,368...65,733,141
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17240
    disease of anatomical entity 16581
      endocrine system disease 5824
        Dwarfism 501
          anauxetic dysplasia 46
            anauxetic dysplasia 2 1
Path 2
Term Annotations click to browse term
  disease 17240
    disease of anatomical entity 16581
      musculoskeletal system disease 6430
        connective tissue disease 4432
          bone disease 3114
            bone development disease 1421
              osteochondrodysplasia 477
                spondyloepimetaphyseal dysplasia 77
                  anauxetic dysplasia 46
                    anauxetic dysplasia 2 1
paths to the root