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ONTOLOGY REPORT - ANNOTATIONS


Term:NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES;
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Accession:DOID:9007117 term browser browse the term
Definition:A developmental disorder characterized by mildly impaired global development apparent from infancy, poor speech acquisition, hypotonia with early feeding difficulties, mildly delayed walking, and variable behavioral abnormalities. Mutations occur de novo, such that the disorder occurs sporadically in patients with no family history of a similar disorder.
Synonyms:exact_synonym: NEDCFSA
 primary_id: OMIM:618505
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NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES; term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kdm6b lysine demethylase 6B JBrowse link 10 56,000,494 56,009,582 RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 15625
    Developmental Diseases 8759
      Neurodevelopmental Disorders 4071
        NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES; 1
Path 2
Term Annotations click to browse term
  disease 15625
    disease of anatomical entity 14954
      nervous system disease 10224
        central nervous system disease 8101
          brain disease 7571
            disease of mental health 5520
              Neurodevelopmental Disorders 4071
                NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES; 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.