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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 SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES
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Accession:DOID:9005055 term browser browse the term
Definition:An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, severe to profound intellectual impairment, early-onset refractory seizures, hypotonia, failure to thrive, and progressive microcephaly. Brain imaging shows cerebral atrophy, thin corpus callosum, and myelination defects.
Synonyms:exact_synonym: NEDSHBA
 primary_id: OMIM:618922


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NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grm7 glutamate metabotropic receptor 7 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities OMIM
ClinVar		 PMID:25741868 PMID:27435318 PMID:28492532 PMID:32286009 NCBI chr 4:143,730,862...144,613,230
Ensembl chr 4:143,731,259...144,612,344 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    Developmental Disease 18447
      Neurodevelopmental Disorders 6833
        NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES 1
Path 2
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18213
      nervous system disease 14061
        central nervous system disease 12398
          brain disease 11634
            disease of mental health 8302
              Neurodevelopmental Disorders 6833
                NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES 1
paths to the root