Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
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 LOC100970414 histone H3.3A 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 chr 1:201,523,670...201,533,005
Ensembl chr 1:206,520,109...206,529,447 		JBrowse link
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100988671 histone H3.3A 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 chr17:69,728,165...69,730,519
Ensembl chr17:75,277,614...75,281,106 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    Developmental Disease 17885
      Neurodevelopmental Disorders 6850
        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 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        central nervous system disease 11923
          brain disease 11204
            disease of mental health 8111
              Neurodevelopmental Disorders 6850
                Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
                  Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 1
                  Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 1
paths to the root