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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 VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES
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Accession:DOID:9000637 term browser browse the term
Definition:A disease characterized by early-onset hypotonia, delayed walking, poor speech, and impaired intellectual development. Brain imaging tends to show delayed myelination, thin corpus callosum, and/or enlarged ventricles.
Synonyms:exact_synonym: NEDHIB;   POLR2A-RELATED CONDITION
 primary_id: OMIM:618603
 xref: EFO:0010568


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NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr2a RNA polymerase II subunit A ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | ClinVar Annotator: match by term: POLR2A-related condition OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31353023 PMID:33665635 NCBI chr10:54,452,438...54,478,486
Ensembl chr10:54,452,441...54,478,455 		JBrowse link
G Puf60 poly-U binding splicing factor 60 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities ClinVar PMID:25741868 NCBI chr 7:107,782,799...107,793,759
Ensembl chr 7:107,782,770...107,794,531 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Neurodevelopmental Disorders 6848
        NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES 2
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            disease of mental health 8321
              Neurodevelopmental Disorders 6848
                NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES 2
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