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ONTOLOGY REPORT - ANNOTATIONS


Term:intellectual developmental disorder with short stature and behavioral abnormalities
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Accession:DOID:0111674 term browser browse the term
Definition:A syndrome characterized by intellectual disability, global developmental delay, short stature, aphasia, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in IQSEC1 on chromosome 3p25.2-p25.1. (DO)
Synonyms:exact_synonym: IDDSSBA
 alt_id: OMIM:618687
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intellectual developmental disorder with short stature and behavioral abnormalities term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Iqsec1 IQ motif and Sec7 domain ArfGEF 1 JBrowse link 4 123,400,717 123,454,656 RGD:8554872
RGD:7240710

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Term Annotations click to browse term
  disease 15609
    syndrome 5791
      intellectual developmental disorder with short stature and behavioral abnormalities 1
Path 2
Term Annotations click to browse term
  disease 15609
    disease of anatomical entity 14966
      nervous system disease 10397
        central nervous system disease 8544
          brain disease 7900
            disease of mental health 5642
              developmental disorder of mental health 2813
                specific developmental disorder 1975
                  intellectual disability 1798
                    intellectual developmental disorder with short stature and behavioral abnormalities 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.