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ONTOLOGY REPORT - ANNOTATIONS


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 JBrowse Chr Start Stop Reference
G Cd96 CD96 molecule JBrowse link 11 57,108,757 57,183,855 RGD:7240710
RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15609
    syndrome 5791
      C syndrome 1
Path 2
Term Annotations click to browse term
  disease 15609
    disease of anatomical entity 14966
      nervous system disease 10397
        central nervous system disease 8544
          brain disease 7900
            disease of mental health 5642
              developmental disorder of mental health 2813
                specific developmental disorder 1975
                  intellectual disability 1798
                    C syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.