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ONTOLOGY REPORT - ANNOTATIONS


Term:Hyperphosphatasia with Mental Retardation Syndrome 5
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Accession:DOID:9007551 term browser browse the term
Synonyms:exact_synonym: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11;   GPIBD11;   HPMRS5
 primary_id: OMIM:616025
 alt_id: RDO:9001600
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Hyperphosphatasia with Mental Retardation Syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AATF apoptosis antagonizing transcription factor JBrowse link 17 36,948,954 37,056,871 RGD:8554872
G ACACA acetyl-CoA carboxylase alpha JBrowse link 17 37,084,992 37,406,836 RGD:8554872
G DHRS11 dehydrogenase/reductase 11 JBrowse link 17 36,591,846 36,600,804 RGD:8554872
G GGNBP2 gametogenetin binding protein 2 JBrowse link 17 36,544,913 36,589,848 RGD:8554872
G LHX1 LIM homeobox 1 JBrowse link 17 36,937,475 36,944,612 RGD:8554872
G MRM1 mitochondrial rRNA methyltransferase 1 JBrowse link 17 36,601,583 36,634,698 RGD:8554872
G MYO19 myosin XIX JBrowse link 17 36,495,636 36,535,457 RGD:8554872
G PIGW phosphatidylinositol glycan anchor biosynthesis class W JBrowse link 17 36,534,762 36,539,303 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16438
    Developmental Diseases 10241
      Neurodevelopmental Disorders 5277
        intellectual disability 2047
          Hyperphosphatasia with Mental Retardation 53
            Hyperphosphatasia with Mental Retardation Syndrome 5 8
Path 2
Term Annotations click to browse term
  disease 16438
    disease of anatomical entity 15414
      nervous system disease 11682
        central nervous system disease 9559
          brain disease 8980
            disease of mental health 6917
              developmental disorder of mental health 3793
                specific developmental disorder 2208
                  intellectual disability 2047
                    Hyperphosphatasia with Mental Retardation 53
                      Hyperphosphatasia with Mental Retardation Syndrome 5 8
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.