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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 speech delay
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Accession:DOID:0070512 term browser browse the term
Definition:A syndrome characterized by global developmental delay, impaired intellectual development with poor or absent speech, and fine and gross motor delay that has_material_basis_in heterozygous or compound heterozygous mutation in the EIF4A2 gene on chromosome 3q27.3. (DO)
Synonyms:exact_synonym: NEDHSS;   NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES
 narrow_synonym: INTELLECTUAL DISABILITY WITH MUSCULAR SPASMS
 alt_id: DOID:9001612
 xref: MIM:620455;   MONDO:0957541


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neurodevelopmental disorder with hypotonia and speech delay term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif4a2 eukaryotic translation initiation factor 4A2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures OMIM
ClinVar		 PMID:25741868 PMID:36528028 NCBI chr11:91,268,730...91,276,738
Ensembl chr11:91,268,731...91,275,323 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      neurodevelopmental disorder with hypotonia and speech delay 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          brain disease 11866
            disease of mental health 8496
              Neurodevelopmental Disorders 6988
                neurodevelopmental disorder with hypotonia and speech delay 1
paths to the root