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ONTOLOGY REPORT - ANNOTATIONS


Term:SNIJDERS BLOK-FISHER SYNDROME
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Accession:DOID:9004310 term browser browse the term
Definition:A neurodevelopmental disorder characterized by global developmental delay, hypotonia, variable impaired intellectual development, and specifically impaired speech and language acquisition. Patients achieve independent ambulation. Dysmorphic features include abnormal, cupped, or prominent ears and ocular anomalies.
Synonyms:exact_synonym: SNIBFIS
 primary_id: OMIM:618604
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SNIJDERS BLOK-FISHER SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pou3f3 POU class 3 homeobox 3 JBrowse link 9 49,479,148 49,482,246 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    Developmental Diseases 8823
      Neurodevelopmental Disorders 4095
        Developmental Disabilities 373
          SNIJDERS BLOK-FISHER SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      nervous system disease 10167
        central nervous system disease 8267
          brain disease 7613
            disease of mental health 5552
              Neurodevelopmental Disorders 4095
                Developmental Disabilities 373
                  SNIJDERS BLOK-FISHER 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.