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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:0070651 term browser browse the term
Definition:A syndrome characterized by a variable phenotype primarily including seizures, gingival overgrowth, a prominent mandible or cherubism, and mental deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D2B gene on chromosome 15q24. Other more variable features include coarse facial features, optic atrophy, sensorineural hearing loss, ataxia, hypotonia, delayed development or developmental regression, cerebellar or cerebral atrophy, and enlarged brain ventricles. (DO)
Synonyms:exact_synonym: NEDSGO
 alt_id: DOID:9002993
 xref: MIM:619323;   MONDO:0859148


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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 Tbc1d2b TBC1 domain family, member 2B ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and gingival overgrowth OMIM
ClinVar		 PMID:25741868 PMID:32623794 PMID:38177409 NCBI chr 8:99,626,019...99,694,669
Ensembl chr 8:99,626,019...99,694,637 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    syndrome 5304
      neurodevelopmental disorder with seizures and gingival overgrowth 1
Path 2
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      nervous system disease 8528
        Neurologic Manifestations 5934
          sensory system disease 4800
            mouth disease 896
              tooth disease 314
                periodontal disease 137
                  gingival disease 26
                    gingival overgrowth 14
                      neurodevelopmental disorder with seizures and gingival overgrowth 1
paths to the root