ONTOLOGY REPORT - ANNOTATIONS


Term:Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies
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Accession:DOID:9009329 term browser browse the term
Synonyms:xref: OMIM:PS615419
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Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nalcn sodium leak channel, non-selective JBrowse link 15 109,734,092 110,046,729 RGD:7240710
RGD:8554872
RGD:12911215
RGD:12914762
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Unc80 unc-80 homolog, NALCN channel complex subunit JBrowse link 9 73,492,907 73,686,578 RGD:8554872
RGD:7240710
RGD:11528248
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbck TBC1 domain containing kinase JBrowse link 2 237,751,646 237,958,497 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14926
    Developmental Diseases 7774
      Neurodevelopmental Disorders 2768
        intellectual disability 1596
          Infantile Hypotonia with Psychomotor Retardation 4
            Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 3
              Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1 1
              Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 1
              Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 1
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14092
      nervous system disease 9154
        central nervous system disease 6950
          brain disease 6456
            disease of mental health 4348
              developmental disorder of mental health 2603
                specific developmental disorder 1767
                  intellectual disability 1596
                    Infantile Hypotonia with Psychomotor Retardation 4
                      Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 3
                        Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1 1
                        Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 1
                        Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 1
paths to the root

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