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ONTOLOGY REPORT - ANNOTATIONS


Term:Hyperphosphatasia with Mental Retardation Syndrome 6
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Accession:DOID:9001811 term browser browse the term
Definition:An autosomal recessive multisystemic disorder characterized by global developmental delay, dysmorphic features, seizures, and congenital cataracts.
Synonyms:exact_synonym: HPMRS6
 primary_id: OMIM:616809
 alt_id: RDO:9000762
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Hyperphosphatasia with Mental Retardation Syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pigy phosphatidylinositol glycan anchor biosynthesis, class Y JBrowse link 8 23,167,974 23,170,215 RGD:8554872
RGD:7240710
G Pyurf PIGY upstream reading frame JBrowse link 4 88,584,242 88,587,877 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15626
    Developmental Diseases 8759
      Neurodevelopmental Disorders 4072
        intellectual disability 1706
          Hyperphosphatasia with Mental Retardation 52
            Hyperphosphatasia with Mental Retardation Syndrome 6 2
Path 2
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      nervous system disease 10224
        central nervous system disease 8102
          brain disease 7571
            disease of mental health 5520
              developmental disorder of mental health 2712
                specific developmental disorder 1884
                  intellectual disability 1706
                    Hyperphosphatasia with Mental Retardation 52
                      Hyperphosphatasia with Mental Retardation Syndrome 6 2
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.