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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 SEIZURES AND GINGIVAL OVERGROWTH
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Accession:DOID:9002993 term browser browse the term
Definition:This disease is an autosomal recessive disorder with a highly variable phenotype. Most patients develop significant gingival hypertrophy associated with a prominent mandible or cherubism in the first years of life. The disorder appears to comprise a continuum of evolving neurologic manifestations.
Synonyms:exact_synonym: NEDSGO
 primary_id: OMIM:619323


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NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130057678 ATAC-STARR-seq lymphoblastoid silent region 6702 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and gingival overgrowth ClinVar PMID:25741868 PMID:38177409 NCBI chr15:78,077,187...78,077,386 JBrowse link
G TBC1D2B TBC1 domain family member 2B IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and gingival overgrowth OMIM
ClinVar		 PMID:25741868 PMID:32623794 PMID:38177409 NCBI chr15:77,994,985...78,077,711
Ensembl chr15:77,984,036...78,077,724 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      Neurodevelopmental Disorders 13563
        NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH 2
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        Neurologic Manifestations 15387
          sensory system disease 9728
            mouth disease 1369
              tooth disease 772
                periodontal disease 143
                  gingival disease 30
                    gingival overgrowth 16
                      NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH 2
paths to the root