Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   


Term:Temtamy syndrome
go back to main search page
Accession:DOID:0111621 term browser browse the term
Definition:A syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities including partial or complete absence of the corpus callosum that has_material_basis_in [zygosity of] mutation in C12ORF57 on chromosome 12p13.31. (DO)
Synonyms:exact_synonym: Craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation;   Dysmorphism, corpus callosum agenesis and colobomas;   MENTAL RETARDATION WITH OR WITHOUT CRANIOFACIAL DYSMORPHISM, OCULAR COLOBOMA, OR ABNORMAL CORPUS CALLOSUM;   TEMTYS;   Temtamy-Shalash syndrome;   craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome
 primary_id: MESH:C536959
 alt_id: DOID:9007649;   OMIM:218340
 xref: GARD:5688;   ORDO:1777
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants       view all columns           Sort by:
Temtamy syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grcc10 gene rich cluster, C10 gene JBrowse link 4 157,264,383 157,266,042 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15609
    syndrome 5791
      Temtamy syndrome 1
Path 2
Term Annotations click to browse term
  disease 15609
    Developmental Diseases 8986
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7802
        genetic disease 7293
          monogenic disease 4988
            autosomal genetic disease 3968
              autosomal recessive disease 2189
                Temtamy syndrome 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.