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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 Annotator: match by term: Neurodevelopmental disorder with poor language and loss of hand skills
ClinVar
OMIM
PMID:25741868 PMID:26740508 PMID:27541642 PMID:28492532 PMID:28856709 PMID:29100083 PMID:29369404 NCBI chr 5:62,276,100...62,621,737
Ensembl chr 5:62,276,100...62,621,737
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    syndrome 7568
      Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        central nervous system disease 10192
          brain disease 9565
            disease of mental health 6921
              developmental disorder of mental health 4267
                specific developmental disorder 3531
                  intellectual disability 3384
                    syndromic intellectual disability 752
                      Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills 1
paths to the root