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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, AND DELAYED DEVELOPMENT SYNDROME
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Accession:DOID:9003925 term browser browse the term
Definition:A neurodevelopmental syndrome characterized by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia. (OMIM)
Synonyms:exact_synonym: EBF3-RELATED DISORDER;   HADDS
 primary_id: OMIM:617330;   RDO:9001439
For additional species annotation, visit the Alliance of Genome Resources.


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HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ebf3 EBF transcription factor 3 ISO ClinVar Annotator: match by term: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
ClinVar Annotator: match by term: EBF3-related disorder
ClinVar Annotator: match by term: Hypotonia, ataxia, and delayed development syndrome
ClinVar
OMIM
PMID:25741868 PMID:28017370 PMID:28017372 PMID:28017373 PMID:28492532 PMID:30311386 PMID:32581362 NCBI chr 1:209,523,153...209,641,143
Ensembl chr 1:209,523,157...209,641,123
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          brain disease 8448
            disease of mental health 6088
              Neurodevelopmental Disorders 4657
                Developmental Disabilities 689
                  HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 1
paths to the root