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ONTOLOGY REPORT - ANNOTATIONS


Term:Au-Kline Syndrome
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Accession:DOID:9003837 term browser browse the term
Definition:AUKS is caused by heterozygous mutation in the HNRNPK gene on chromosome 9q21. (OMIM)
Synonyms:exact_synonym: AUKS
 primary_id: OMIM:616580;   RDO:9001142
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Au-Kline Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hnrnpk heterogeneous nuclear ribonucleoprotein K JBrowse link 17 6,664,730 6,676,753 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    syndrome 5215
      Au-Kline Syndrome 1
Path 2
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  disease 15603
    disease of anatomical entity 14934
      nervous system disease 10239
        central nervous system disease 8117
          brain disease 7586
            disease of mental health 5530
              developmental disorder of mental health 2719
                specific developmental disorder 1891
                  intellectual disability 1713
                    Au-Kline Syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.