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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, SEIZURES, AND ABSENT LANGUAGE
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Accession:DOID:9000211 term browser browse the term
Synonyms:exact_synonym: HECW2-RELATED CONDITION;   HECW2-RELATED DISORDER;   NDHSAL
 primary_id: OMIM:617268;   RDO:9001505


show annotations for term's descendants           Sort by:
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hecw2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: HECW2-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:23545411 PMID:25741868 PMID:27389779 PMID:28492532 PMID:29807643 NCBI chr 9:55,359,462...55,753,106
Ensembl chr 9:55,365,203...55,580,327 		JBrowse link
G Ntng2 netrin G2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language ClinVar PMID:25741868 PMID:31668703 NCBI chr 3:12,492,574...12,551,104
Ensembl chr 3:12,492,639...12,545,890 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Language Development Disorders 64
        NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE 2
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        central nervous system disease 12399
          brain disease 11634
            disease of mental health 8301
              developmental disorder of mental health 5543
                specific developmental disorder 4505
                  communication disorder 402
                    language disorder 156
                      Language Development Disorders 64
                        NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE 2
paths to the root