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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 ClinVar Annotator: match by term: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:25741868, PMID:27666370, PMID:27666374, PMID:28492532, PMID:31240573, PMID:31395954 NCBI chr10:110,643,693...110,800,493
Ensembl chr10:110,643,759...110,800,493
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Pathological Conditions, Signs and Symptoms 8754
      Anatomical Pathological Conditions 1536
        Atrophy 98
          ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        Congenital Abnormalities 4785
          Nervous System Malformations 1100
            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.