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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 Poor Language and Loss of Hand Skills
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Accession:DOID:9009154 term browser browse the term
Definition:An autosomal dominant disorder characterized by developmental stagnation or regression apparent in the first years of life and manifest as loss of purposeful hand movements, loss of language, and intellectual disability. (OMIM)
Synonyms:exact_synonym: NDPLHS
 primary_id: OMIM:617903


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Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with poor language and loss of hand skills ClinVar
OMIM		 PMID:25262651 PMID:25741868 PMID:26740508 PMID:27541642 PMID:28492532 More... NCBI chr 5:60,947,517...61,288,104
Ensembl chr 5:60,947,526...61,288,104 		JBrowse link
G Pou3f3 POU class 3 homeobox 3 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with poor language and loss of hand skills ClinVar PMID:25741868 NCBI chr 9:44,945,872...44,948,986
Ensembl chr 9:44,945,872...44,948,992 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21089
    syndrome 10784
      Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills 2
Path 2
Term Annotations click to browse term
  disease 21089
    disease of anatomical entity 18156
      nervous system disease 13996
        central nervous system disease 12287
          brain disease 11531
            disease of mental health 8203
              developmental disorder of mental health 5446
                specific developmental disorder 4430
                  intellectual disability 4243
                    syndromic intellectual disability 758
                      Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills 2
paths to the root