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
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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

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Path 1
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  disease 14823
    Pathological Conditions, Signs and Symptoms 7275
      Anatomical Pathological Conditions 1305
        Atrophy 98
          ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM 1
Path 2
Term Annotations click to browse term
  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        Congenital Abnormalities 3149
          Nervous System Malformations 663
            ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.