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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 processing of precursor 1, ribonuclease P/MRP family, (S. cerevisiae) JBrowse link 15 34,495,311 34,530,653 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12617
    disease of anatomical entity 12180
      endocrine system disease 4305
        Dwarfism 315
          Anauxetic Dysplasia 2 1
Path 2
Term Annotations click to browse term
  disease 12617
    disease of anatomical entity 12180
      musculoskeletal system disease 3948
        connective tissue disease 2417
          bone disease 1870
            bone development disease 1005
              osteochondrodysplasia 409
                spondyloepimetaphyseal dysplasia 75
                  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.