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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbcd tubulin folding cofactor D ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum		 CTD
OMIM
ClinVar		 PMID:25741868 PMID:27666370 PMID:27666374 PMID:27807845 PMID:28158450 More... NCBI chr10:106,717,340...106,874,126
Ensembl chr10:106,717,367...106,874,122 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    Pathological Conditions, Signs and Symptoms 11282
      Anatomical Pathological Conditions 2206
        Atrophy 101
          ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM 1
Path 2
Term Annotations click to browse term
  disease 18145
    Developmental Disease 12907
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11612
        Congenital Abnormalities 6747
          Nervous System Malformations 2051
            ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM 1
paths to the root