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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
 primary_id: MIM:617669;   RDO:9005157


show annotations for term's descendants           Sort by:
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 1:154,504,563...154,506,890
Ensembl chr 1:154,504,563...154,506,890 		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 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25614871 PMID:25741868 PMID:28492532 More... NCBI chr 6:45,321,496...45,386,967
Ensembl chr 6:45,321,497...45,386,952 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19051
    disease of anatomical entity 18384
      nervous system disease 14258
        central nervous system disease 12591
          brain disease 11816
            ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY 2
paths to the root