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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 DISORDER;   HADDS
 primary_id: OMIM: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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypotonia, ataxia, and delayed development syndrome
OMIM
CTD
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 21128
    syndrome 10832
      hypotonia, ataxia, and delayed development syndrome 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        central nervous system disease 12399
          brain disease 11634
            disease of mental health 8301
              Neurodevelopmental Disorders 6832
                Developmental Disabilities 776
                  hypotonia, ataxia, and delayed development syndrome 1
paths to the root