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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:C syndrome
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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
 primary_id: MESH:C537418
 alt_id: DOID:9007360;   OMIM:211750
 xref: GARD:5978;   ORDO:1308


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C syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD96 CD96 molecule IAGP
EXP		 ClinVar Annotator: match by term: C syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:16199547 PMID:17847009 PMID:25741868 PMID:28492532 PMID:34906502 NCBI chr 3:111,542,197...111,665,996
Ensembl chr 3:111,292,719...111,665,750 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    syndrome 18075
      C syndrome 1
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        central nervous system disease 23468
          brain disease 21902
            disease of mental health 17210
              developmental disorder of mental health 12014
                specific developmental disorder 7407
                  intellectual disability 7166
                    C syndrome 1
paths to the root