Send us a Message



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

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:KOHLSCHUTTER-TONZ SYNDROME-LIKE
go back to main search page
Accession:DOID:9003563 term browser browse the term
Definition:This is a disease characterized by global developmental delay with moderately to severely impaired intellectual development, poor or absent speech, and delayed motor skills.
Synonyms:exact_synonym: KTZSL
 pimary_id: OMIM:619229
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
KOHLSCHUTTER-TONZ SYNDROME-LIKE term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Satb1 SATB homeobox 1 ISO ClinVar Annotator: match by term: KOHLSCHUTTER-TONZ SYNDROME-LIKE OMIM
ClinVar
PMID:15930900 PMID:16371359 PMID:17652321 PMID:25741868 NCBI chr 9:2,181,135...2,277,949
Ensembl chr 9:2,190,915...2,274,629
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17014
    Developmental Disease 10686
      Neurodevelopmental Disorders 5597
        intellectual disability 3399
          KOHLSCHUTTER-TONZ SYNDROME-LIKE 1
Path 2
Term Annotations click to browse term
  disease 17014
    disease of anatomical entity 16363
      nervous system disease 11947
        central nervous system disease 10253
          brain disease 9616
            disease of mental health 6957
              developmental disorder of mental health 4288
                specific developmental disorder 3547
                  intellectual disability 3399
                    KOHLSCHUTTER-TONZ SYNDROME-LIKE 1
paths to the root