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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 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdm6b lysine demethylase 6B ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES OMIM
ClinVar
PMID:25741868, PMID:31124279 NCBI chr10:56,000,494...56,009,582
Ensembl chr10:56,001,799...56,008,885
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Neurodevelopmental Disorders 4619
        Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            disease of mental health 6047
              Neurodevelopmental Disorders 4619
                Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.