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ONTOLOGY REPORT - ANNOTATIONS


Term:NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA
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Accession:DOID:9006418 term browser browse the term
Definition:An autosomal recessive disorder characterized by severely impaired intellectual and motor development, axial and peripheral hypotonia. Other features include poor overall growth, and joint hypermobility. Rare features include seizures, dystonia, spasticity, and nonspecific brain abnormalities.
Synonyms:exact_synonym: NEDBASH
 alt_id: OMIM:618718
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NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ntng2 netrin G2 JBrowse link 3 7,742,511 7,800,834 RGD:7240710
RGD:8554872

Term paths to the root
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Term Annotations click to browse term
  disease 15503
    Developmental Diseases 8880
      Neurodevelopmental Disorders 4162
        NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA 1
Path 2
Term Annotations click to browse term
  disease 15503
    disease of anatomical entity 14857
      nervous system disease 10273
        central nervous system disease 8410
          brain disease 7763
            disease of mental health 5617
              developmental disorder of mental health 2797
                specific developmental disorder 1964
                  communication disorder 214
                    language disorder 138
                      speech disorder 50
                        NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.