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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:NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY
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Accession:DOID:9009122 term browser browse the term
Definition:An autosomal recessive neurodegenerative disorder characterized by global developmental delay, severe intellectual disability with poor or absent speech and autistic stereotypic behaviors, microcephaly, early-onset generalized seizures, and hypotonia. (OMIM)
Synonyms:exact_synonym: NEDMEBA
 primary_id: OMIM:617862
For additional species annotation, visit the Alliance of Genome Resources.


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NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trappc6b trafficking protein particle complex subunit 6B ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy OMIM
ClinVar		 PMID:25741868 PMID:28397838 PMID:28626029 PMID:32860008 NCBI chr 6:76,740,898...76,752,035
Ensembl chr 6:76,740,898...76,752,024 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17941
    Developmental Disease 12578
      Neurodevelopmental Disorders 5956
        NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY 1
Path 2
Term Annotations click to browse term
  disease 17941
    disease of anatomical entity 17296
      nervous system disease 12917
        central nervous system disease 11044
          brain disease 10315
            disease of mental health 7310
              Neurodevelopmental Disorders 5956
                NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY 1
paths to the root