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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 BCL11A, BAF complex component JBrowse link 14 108,826,717 108,921,197 RGD:8554872
RGD:11554173
RGD:7240710

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Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Neurodevelopmental Disorders 2745
        intellectual disability 1146
          INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      Hemic and Lymphatic Diseases 1573
        hematopoietic system disease 1355
          anemia 366
            normocytic anemia 172
              hemolytic anemia 172
                congenital hemolytic anemia 124
                  hemoglobinopathy 92
                    thalassemia 62
                      beta thalassemia 32
                        Delta-Beta Thalassemia 4
                          INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN 1
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