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

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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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15502
    Developmental Diseases 8872
      Neurodevelopmental Disorders 4162
        NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES; 1
Path 2
Term Annotations click to browse term
  disease 15502
    disease of anatomical entity 14856
      nervous system disease 10270
        central nervous system disease 8409
          brain disease 7762
            disease of mental health 5617
              Neurodevelopmental Disorders 4162
                NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES; 1
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