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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 BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA
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Accession:DOID:9006418 term browser browse the term
Definition:An autosomal recessive disorder characterized by severely impaired intellectual and motor development, axial and peripheral hypotonia. Other features include poor overall growth, and joint hypermobility. Rare features include seizures, dystonia, spasticity, and nonspecific brain abnormalities.
Synonyms:exact_synonym: NEDBASH
 alt_id: OMIM:618718
For additional species annotation, visit the Alliance of Genome Resources.


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NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ntng2 netrin G2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA
ClinVar Annotator: match by term: Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia
OMIM
ClinVar
PMID:25741868 PMID:31372774 PMID:31668703 PMID:31692205 NCBI chr 3:7,742,511...7,800,834
Ensembl chr 3:7,742,531...7,796,385
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    Developmental Disease 10589
      Neurodevelopmental Disorders 5572
        NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA 1
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        central nervous system disease 10208
          brain disease 9580
            disease of mental health 6937
              developmental disorder of mental health 4277
                specific developmental disorder 3535
                  communication disorder 240
                    language disorder 141
                      speech disorder 66
                        NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA 1
paths to the root