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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. [OMIM]
Synonyms:exact_synonym: 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 2 209,771,925 209,999,300 RGD:11528248
RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15698
    Developmental Diseases 9178
      Neurodevelopmental Disorders 3846
        intellectual disability 1913
          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 15698
    disease of anatomical entity 14467
      nervous system disease 10531
        central nervous system disease 8242
          brain disease 7707
            disease of mental health 5598
              developmental disorder of mental health 3658
                specific developmental disorder 2068
                  intellectual disability 1913
                    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.