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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:21534943 PMID:25741868 PMID:27380734 PMID:28067412 More... NCBI chr 7:65,705,348...65,733,143
Ensembl chr 7:65,705,368...65,733,141 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18248
      endocrine system disease 6819
        Dwarfism 865
          anauxetic dysplasia 56
            anauxetic dysplasia 2 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18248
      musculoskeletal system disease 8306
        connective tissue disease 5786
          bone disease 4302
            bone development disease 2307
              osteochondrodysplasia 861
                spondyloepimetaphyseal dysplasia 88
                  anauxetic dysplasia 56
                    anauxetic dysplasia 2 1
paths to the root