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 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
Advanced Search (OLGA)

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:C syndrome
go back to main search page
Accession:DOID:0111581 term browser browse the term
Definition:A syndrome characterized by trigonocephaly, psychomotor retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the CD96 gene on chromosome 3q13.1-q13.2. (DO)
Synonyms:exact_synonym: OTCS;   Opitz C trigonocephaly;   Opitz trigonocephaly C syndrome;   Opitz trigonocephaly syndrome;   trigonocephaly C syndrome;   trigonocephaly syndrome
 alt_id: DOID:9007360
 xref: GARD:5978;   MESH:C537418;   MIM:211750;   MONDO:0008893;   ORDO:1308


show annotations for term's descendants           Sort by:
C syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd96 CD96 molecule ISO ClinVar Annotator: match by term: C syndrome OMIM
ClinVar		 PMID:16199547 PMID:17847009 PMID:25741868 PMID:28492532 PMID:34906502 More... NCBI chr11:54,702,290...54,776,618
Ensembl chr11:54,702,290...54,776,621 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19100
    syndrome 11271
      C syndrome 1
Path 2
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      nervous system disease 14334
        central nervous system disease 12604
          brain disease 11833
            disease of mental health 8425
              developmental disorder of mental health 5646
                specific developmental disorder 4603
                  intellectual disability 4382
                    C syndrome 1
paths to the root