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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:Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies
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Accession:DOID:9007455 term browser browse the term
Definition:A syndromic neurodevelopmental disorder characterized by severe global developmental delay, impaired intellectual development with poor or absent language, significant motor disability with inability to walk, dysmorphic facial features, skeletal anomalies, and variable congenital anomalies.
Synonyms:exact_synonym: CHEDDA
 broad_synonym: congenital ATN1-related disorder
 primary_id: OMIM:618494
For additional species annotation, visit the Alliance of Genome Resources.


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Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES OMIM
ClinVar
PMID:17067864, PMID:25741868, PMID:30827498 NCBI chr 4:157,267,394...157,281,199
Ensembl chr 4:157,267,901...157,274,755
Ensembl chr 9:157,267,901...157,274,755
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Neurodevelopmental Disorders 4582
        Developmental Disabilities 679
          Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            disease of mental health 6015
              Neurodevelopmental Disorders 4582
                Developmental Disabilities 679
                  Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.