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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 SPASTICITY
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Accession:DOID:9008447 term browser browse the term
Synonyms:exact_synonym: PEBAS;   PROGRESSIVE CHILDHOOD ENCEPHALOPATHY;   TRAPPC12-RELATED CONDITION
 primary_id: MIM:617669;   RDO:9005157


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ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lipt2 lipoyl(octanoyl) transferase 2 ISO ClinVar Annotator: match by term: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:163,916,695...163,919,022
Ensembl chr 1:163,916,695...163,919,022 		JBrowse link
G Trappc12 trafficking protein particle complex subunit 12 ISO ClinVar Annotator: match by term: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY | ClinVar Annotator: match by term: Progressive childhood encephalopathy | ClinVar Annotator: match by term: TRAPPC12-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25614871 PMID:25741868 PMID:28492532 More... NCBI chr 6:45,321,496...45,386,967
Ensembl chr 6:51,049,878...51,115,297 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          brain disease 11866
            ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY 2
paths to the root