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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: DEN HOED-DE BOER-VOISIN SYNDROME;   DHDBV;   KTZSL
 broad_synonym: SATB1-RELATED CONDITION
 primary_id: OMIM:619229


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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 PMID:27462121 More... NCBI chr 9:4,677,817...4,773,061
Ensembl chr 9:4,680,920...4,753,251 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Neurodevelopmental Disorders 6831
        intellectual disability 4289
          KOHLSCHUTTER-TONZ SYNDROME-LIKE 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            disease of mental health 8300
              developmental disorder of mental health 5542
                specific developmental disorder 4504
                  intellectual disability 4289
                    KOHLSCHUTTER-TONZ SYNDROME-LIKE 1
paths to the root