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ONTOLOGY REPORT - ANNOTATIONS


Term:Anauxetic Dysplasia 2
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Accession:DOID:9005915 term browser browse the term
Definition:A spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset, very short adult height (less than 1 meter), hypodontia, midface hypoplasia, and mild intellectual disability. (OMIM)
Synonyms:exact_synonym: ANXD2
 primary_id: OMIM:617396
 alt_id: RDO:9001684
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Anauxetic Dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pop1 POP1 homolog, ribonuclease P/MRP subunit JBrowse link NW_004936470 44,676,798 44,710,397 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11416
    disease of anatomical entity 11039
      endocrine system disease 3823
        Dwarfism 303
          Anauxetic Dysplasia 2 1
Path 2
Term Annotations click to browse term
  disease 11416
    disease of anatomical entity 11039
      musculoskeletal system disease 3700
        connective tissue disease 2262
          bone disease 1773
            bone development disease 974
              osteochondrodysplasia 400
                spondyloepimetaphyseal dysplasia 71
                  Anauxetic Dysplasia 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.