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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 CD96 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
For additional species annotation, visit the Alliance of Genome Resources.


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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 ISO ClinVar Annotator: match by OMIM:211750
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: C syndrome
OMIM
ClinVar
CTD
PMID:17847009 PMID:25741868 PMID:28492532 NCBI chr11:57,108,757...57,183,855
Ensembl chr11:57,108,956...57,183,270
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    syndrome 7575
      C syndrome 1
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        central nervous system disease 10197
          brain disease 9570
            disease of mental health 6930
              developmental disorder of mental health 4270
                specific developmental disorder 3534
                  intellectual disability 3387
                    C syndrome 1
paths to the root