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ONTOLOGY REPORT - ANNOTATIONS


Term:HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
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Accession:DOID:9003925 term browser browse the term
Definition:A neurodevelopmental syndrome characterized by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia. (OMIM)
Synonyms:exact_synonym: EBF3-RELATED DISORDER;   HADDS
 primary_id: OMIM:617330;   RDO:9001439
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HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ebf3 EBF transcription factor 3 JBrowse link 1 209,523,153 209,641,143 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 15590
    syndrome 5131
      HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      nervous system disease 10196
        central nervous system disease 8075
          brain disease 7543
            disease of mental health 5494
              Neurodevelopmental Disorders 4047
                Developmental Disabilities 360
                  HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.