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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:Bryant-Li-Bhoj Neurodevelopmental Syndrome
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Accession:DOID:9002771 term browser browse the term
Synonyms:xref: OMIM:PS619720


show annotations for term's descendants           Sort by:
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H3f3a H3.3 histone A ISO ClinVar Annotator: match by term: Bryant-Li-Bhoj neurodevelopmental syndrome 1 | ClinVar Annotator: match by term: H3-3A-related condition | ClinVar Annotator: match by term: H3F3A-related disorders OMIM
ClinVar		 PMID:21636898 PMID:24493739 PMID:25741868 PMID:26139371 PMID:26159857 More... NCBI chr13:92,533,289...92,544,902
Ensembl chr13:92,533,298...92,544,908 		JBrowse link
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H3f3b H3.3 histone B ISO ClinVar Annotator: match by term: Bryant-Li-Bhoj neurodevelopmental syndrome 2 | ClinVar Annotator: match by term: H3-3B-related condition OMIM
ClinVar		 PMID:25741868 PMID:33268356 PMID:34876591 NCBI chr10:101,256,484...101,258,716
Ensembl chr10:101,256,480...101,258,709 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Neurodevelopmental Disorders 6848
        Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
          Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 1
          Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            disease of mental health 8321
              Neurodevelopmental Disorders 6848
                Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
                  Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 1
                  Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 1
paths to the root