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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:HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME
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Accession:DOID:9009147 term browser browse the term
Synonyms:exact_synonym: HADDTS
 primary_id: OMIM:617915
For additional species annotation, visit the Alliance of Genome Resources.



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HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctbp1 C-terminal binding protein 1 ISO ClinVar Annotator: match by term: HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME
ClinVar Annotator: match by term: Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
OMIM
ClinVar
PMID:25741868 PMID:27094857 PMID:28492532 PMID:28955726 PMID:29878067 More... NCBI chr14:77,455,580...77,482,821
Ensembl chr14:77,455,696...77,482,821
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT 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
              Neurodevelopmental Disorders 5718
                Developmental Disabilities 565
                  HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME 1
paths to the root