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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:KOHLSCHUTTER-TONZ SYNDROME-LIKE
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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.


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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 9:4,677,817...4,773,061
Ensembl chr 9:4,680,920...4,753,251
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    Developmental Disease 10923
      Neurodevelopmental Disorders 5692
        intellectual disability 3446
          KOHLSCHUTTER-TONZ SYNDROME-LIKE 1
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      nervous system disease 12101
        central nervous system disease 10378
          brain disease 9741
            disease of mental health 7043
              developmental disorder of mental health 4378
                specific developmental disorder 3635
                  intellectual disability 3446
                    KOHLSCHUTTER-TONZ SYNDROME-LIKE 1
paths to the root