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ONTOLOGY REPORT - ANNOTATIONS


Term:GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES
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Accession:DOID:9005641 term browser browse the term
Definition:An intellectual disability syndrome apparent soon after birth with neonatal hypotonia, poor feeding, and respiratory insufficiency followed by delayed psychomotor development and intellectual disability with poor speech. Brain imaging shows aplasia or hypoplasia of the corpus callosum. (OMIM)
Synonyms:exact_synonym: GDACCF
 primary_id: OMIM:617260;   RDO:9001365
 alt_id: RDO:9001366
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GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zfp148 zinc finger protein 148 JBrowse link 11 70,509,909 70,618,422 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14926
    Pathological Conditions, Signs and Symptoms 7756
      Anatomical Pathological Conditions 1313
        Agenesis of Corpus Callosum 68
          GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES 1
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14096
      nervous system disease 9148
        central nervous system disease 6948
          brain disease 6452
            disease of mental health 4334
              developmental disorder of mental health 2608
                specific developmental disorder 1771
                  intellectual disability 1599
                    GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.