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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:NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES
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Accession:DOID:9005415 term browser browse the term
Definition:This disease is characterized by impaired development of motor skills, cognitive function, and speech acquisition beginning in infancy or early childhood.
Synonyms:exact_synonym: NEDHYBA
 primary_id: OMIM:619512
For additional species annotation, visit the Alliance of Genome Resources.



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NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn3 chloride voltage-gated channel 3 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES ClinVar
OMIM
PMID:24033266 PMID:34186028 NCBI chr16:29,127,419...29,200,133
Ensembl chr16:29,127,419...29,200,119
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    Developmental Disease 11133
      Neurodevelopmental Disorders 5760
        NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES 1
Path 2
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      nervous system disease 12209
        central nervous system disease 10477
          brain disease 9840
            disease of mental health 7119
              Neurodevelopmental Disorders 5760
                NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES 1
paths to the root