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RGD uses the Human Disease Ontology (DO, 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:Tsukahara Syndrome
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Accession:DOID:9000997 term browser browse the term
Synonyms:exact_synonym: Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation
 primary_id: MESH:C566376
 alt_id: RDO:0014749
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
Tsukahara Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfp407 zinc finger protein 407 ISO ClinVar Annotator: match by term: Radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation ClinVar PMID:25741868 NCBI chr18:77,571,140...77,970,282
Ensembl chr18:77,571,204...77,974,129
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17286
    syndrome 8170
      Tsukahara Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17286
    Developmental Disease 10988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9531
        genetic disease 9032
          monogenic disease 7190
            autosomal genetic disease 6338
              autosomal dominant disease 4492
                complex cortical dysplasia with other brain malformations 1198
                  Malformations of Cortical Development, Group I 1056
                    microcephaly 899
                      Tsukahara Syndrome 1
paths to the root