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ONTOLOGY REPORT - ANNOTATIONS
Term:ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
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Accession:DOID:9000707 term browser browse the term
Definition:An autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development apparent soon after birth or in infancy, profound intellectual disability, poor or absent speech, and seizures. (OMIM)
Synonyms:exact_synonym: PEBAT
 primary_id: OMIM:617193;   RDO:9001701
For additional species annotation, visit the Alliance of Genome Resources.

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ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbcd tubulin folding cofactor D JBrowse link 10 110,643,693 110,800,493 RGD:8554872
RGD:11554173
RGD:7240710
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15502
    Pathological Conditions, Signs and Symptoms 8034
      Anatomical Pathological Conditions 1346
        Atrophy 92
          ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM 1
Path 2
Term Annotations click to browse term
  disease 15502
    Developmental Diseases 8872
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7669
        Congenital Abnormalities 3810
          Nervous System Malformations 769
            ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM 1
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