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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:ZTTK Syndrome
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Accession:DOID:9005698 term browser browse the term
Definition:A severe multisystem developmental disorder characterized by delayed psychomotor development and intellectual disability. (OMIM)
Synonyms:exact_synonym: ZHU-TOKITA-TAKENOUCHI-KIM SYNDROME;   ZTTK MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME;   ZTTKS
 primary_id: OMIM:617140;   RDO:9001326
For additional species annotation, visit the Alliance of Genome Resources.



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ZTTK Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Son SON DNA and RNA binding protein ISO ClinVar Annotator: match by term: ZTTK SYNDROME
ClinVar Annotator: match by term: ZTTK syndrome
ClinVar
OMIM
PMID:25590979 PMID:25741868 PMID:27256762 PMID:27545676 PMID:27545680 More... NCBI chr11:30,850,890...30,923,167
Ensembl chr11:30,892,005...30,923,167
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      ZTTK Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            disease of mental health 7070
              developmental disorder of mental health 4405
                specific developmental disorder 3664
                  intellectual disability 3475
                    ZTTK Syndrome 1
paths to the root