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ONTOLOGY REPORT - ANNOTATIONS


Term:INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN
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Accession:DOID:9006994 term browser browse the term
Definition:Characterized by delayed psychomotor development, intellectual disability, variable dysmorphic features, including microcephaly, downslanting palpebral fissures, strabismus, and external ear abnormalities, and asymptomatic persistence of fetal hemoglobin. (OMIM)
Synonyms:exact_synonym: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN
 primary_id: OMIM:617101;   RDO:9001620
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INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BCL11A BAF chromatin remodeling complex subunit BCL11A JBrowse link 3 81,195,217 81,296,165 RGD:7240710
RGD:9068941

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Path 1
Term Annotations click to browse term
  disease 11968
    Developmental Diseases 8244
      Neurodevelopmental Disorders 3991
        intellectual disability 1689
          INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN 1
Path 2
Term Annotations click to browse term
  disease 11968
    disease of anatomical entity 11624
      Hemic and Lymphatic Diseases 0
        hematopoietic system disease 1316
          anemia 348
            normocytic anemia 162
              hemolytic anemia 162
                congenital hemolytic anemia 118
                  hemoglobinopathy 87
                    thalassemia 56
                      beta thalassemia 27
                        Delta-Beta Thalassemia 2
                          INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.