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:brachycephaly, trichomegaly, and developmental delay
go back to main search page
Accession:DOID:0070415 term browser browse the term
Definition:A syndrome characterized by brachycephaly, trichomegaly, and developmental delay, without anemia, that has_material_basis_in heterozygous mutation in the RPS23 gene on chromosome 5q14. (DO)
Synonyms:exact_synonym: BTDD;   MCINS;   Macinnes syndrome
 primary_id: MIM:617412
 alt_id: DOID:9003486

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
brachycephaly, trichomegaly, and developmental delay term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps23 ribosomal protein S23 ISO ClinVar Annotator: match by term: Brachycephaly, trichomegaly, and developmental delay OMIM
ClinVar		 PMID:25741868 PMID:28257692 NCBI chrNW_004624743:2,663,474...2,665,508
Ensembl chrNW_004624743:2,663,479...2,665,493 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14093
    syndrome 9307
      brachycephaly, trichomegaly, and developmental delay 1
Path 2
Term Annotations click to browse term
  disease 14093
    disease of anatomical entity 13772
      Skin and Connective Tissue Diseases 6371
        connective tissue disease 4918
          bone disease 3623
            bone development disease 2145
              dysostosis 534
                synostosis 354
                  craniosynostosis 294
                    brachycephaly, trichomegaly, and developmental delay 1
paths to the root