ONTOLOGY REPORT - ANNOTATIONS


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 JBrowse Chr Start Stop Reference
G Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 JBrowse link 5 62,276,100 62,621,737 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            disease of mental health 4325
              developmental disorder of mental health 2595
                specific developmental disorder 1330
                  intellectual disability 1158
                    syndromic intellectual disability 211
                      NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.