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ONTOLOGY REPORT - ANNOTATIONS


Term:Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly
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Accession:DOID:9002596 term browser browse the term
Synonyms:exact_synonym: SOPH
 primary_id: OMIM:614800;   RDO:9001073
For additional species annotation, visit the Alliance of Genome Resources.


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Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nbas NBAS subunit of NRZ tethering complex JBrowse link 6 38,474,773 38,777,146 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    Pathological Conditions, Signs and Symptoms 8013
      Pathologic Processes 5074
        Growth Disorders 246
          Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly 1
Path 2
Term Annotations click to browse term
  disease 15590
    Developmental Diseases 8723
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7503
        genetic disease 6993
          monogenic disease 4551
            autosomal genetic disease 3501
              autosomal dominant disease 2065
                Pelger-Huet anomaly 2
                  Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.