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ONTOLOGY REPORT - ANNOTATIONS


Term:Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2
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Accession:DOID:9000999 term browser browse the term
Definition:A severe autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy.
Synonyms:exact_synonym: HYPOTONIA-SPEECH IMPAIRMENT-SEVERE COGNITIVE DELAY SYNDROME;   IHPRF2;   UNC80-RELATED DISORDER
 primary_id: OMIM:616801;   RDO:9000387
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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:11528248
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Neurodevelopmental Disorders 4067
        intellectual disability 1703
          Infantile Hypotonia with Psychomotor Retardation 4
            Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 3
              Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        central nervous system disease 8092
          brain disease 7561
            disease of mental health 5514
              developmental disorder of mental health 2709
                specific developmental disorder 1880
                  intellectual disability 1703
                    Infantile Hypotonia with Psychomotor Retardation 4
                      Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 3
                        Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.