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ONTOLOGY REPORT - ANNOTATIONS


Term:Infantile Hypotonia with Psychomotor Retardation
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Accession:DOID:9001343 term browser browse the term
Synonyms:exact_synonym: IHPMR
 primary_id: OMIM:616816
 alt_id: RDO:9001152
For additional species annotation, visit the Alliance of Genome Resources.


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Infantile Hypotonia with Psychomotor Retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc174 coiled-coil domain containing 174 JBrowse link 4 123,760,708 123,787,529 RGD:8554872
RGD:7240710
RGD:11554173
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:11554173
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
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Neurodevelopmental Disorders 2745
        intellectual disability 1146
          Infantile Hypotonia with Psychomotor Retardation 4
            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 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            disease of mental health 4314
              developmental disorder of mental health 2584
                specific developmental disorder 1319
                  intellectual disability 1146
                    Infantile Hypotonia with Psychomotor Retardation 4
                      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