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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, Microcephaly, and Seizures
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Accession:DOID:9008601 term browser browse the term
Definition:Autosomal recessive disorder characterized by global developmental delay with axial hypotonia, inability to sit or walk, and severely impaired intellectual development with absent language. (OMIM)
Synonyms:exact_synonym: NEDHYMS
 primary_id: OMIM:618862

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Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adarb1 adenosine deaminase RNA specific B1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures OMIM
ClinVar		 PMID:25741868 PMID:32220291 PMID:32719099 NCBI chrNW_004936778:1,056,259...1,137,772
Ensembl chrNW_004936778:1,053,871...1,137,828 		JBrowse link
G Cpsf3 cleavage and polyadenylation specific factor 3 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures ClinVar PMID:35121750 NCBI chrNW_004936532:5,814,331...5,850,188
Ensembl chrNW_004936532:5,814,329...5,850,352 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Neurodevelopmental Disorders 6303
        Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures 2
Path 2
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        genetic disease 16311
          monogenic disease 9609
            autosomal genetic disease 8893
              autosomal dominant disease 5828
                complex cortical dysplasia with other brain malformations 1547
                  Malformations of Cortical Development, Group I 1335
                    microcephaly 1105
                      Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures 2
paths to the root