Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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: MIM:619512



show annotations for term's descendants           Sort by:
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 OMIM
ClinVar
PMID:24033266 PMID:25741868 PMID:34186028 NCBI chr16:29,127,152...29,200,133
Ensembl chr16:29,127,419...29,200,119
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19050
    Developmental Disease 14522
      Neurodevelopmental Disorders 6940
        NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES 1
Path 2
Term Annotations click to browse term
  disease 19050
    disease of anatomical entity 18384
      nervous system disease 14257
        central nervous system disease 12589
          brain disease 11814
            disease of mental health 8411
              Neurodevelopmental Disorders 6940
                NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES 1
paths to the root