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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:0081176 term browser browse the term
Definition:A syndrome that is characterized by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia and that has_material_basis_in heterozygous mutation in the EBF3 gene on chromosome 10q26. (DO)
Synonyms:exact_synonym: EBF3-RELATED CONDITION;   EBF3-RELATED DISORDER;   HADDS
 primary_id: MIM:617330
 alt_id: DOID:9003925


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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: EBF3-related disorder | ClinVar Annotator: match by term: Hypotonia, ataxia, and delayed development syndrome OMIM
ClinVar		 PMID:19627984 PMID:20300201 PMID:25741868 PMID:28017370 PMID:28017372 More... NCBI chr 1:191,996,726...192,114,593
Ensembl chr 1:191,996,730...192,114,359 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    syndrome 11404
      hypotonia, ataxia, and delayed development syndrome 1
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      nervous system disease 14361
        central nervous system disease 12639
          brain disease 11857
            disease of mental health 8462
              Neurodevelopmental Disorders 6971
                Developmental Disabilities 762
                  hypotonia, ataxia, and delayed development syndrome 1
paths to the root