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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 13 361,095 398,214 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12064
    disease of anatomical entity 11714
      endocrine system disease 4108
        Dwarfism 305
          Anauxetic Dysplasia 2 1
Path 2
Term Annotations click to browse term
  disease 12064
    disease of anatomical entity 11714
      musculoskeletal system disease 3819
        connective tissue disease 2347
          bone disease 1824
            bone development disease 990
              osteochondrodysplasia 405
                spondyloepimetaphyseal dysplasia 74
                  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.