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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 Dysmorphic Facies and Distal Limb Anomalies
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Accession:DOID:9009097 term browser browse the term
Definition:A neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability, poor growth with small head size, dysmorphic facial features, and mild abnormalities of the hands and feet. (OMIM)
Synonyms:exact_synonym: NEDDFL
 primary_id: OMIM:617755
For additional species annotation, visit the Alliance of Genome Resources.


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Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bptf bromodomain PHD finger transcription factor ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES ClinVar
OMIM
PMID:25741868 PMID:28942966 NCBI chr10:95,248,573...95,350,162
Ensembl chr10:95,250,294...95,349,789
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16977
    Developmental Disease 10670
      Neurodevelopmental Disorders 5599
        Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies 1
Path 2
Term Annotations click to browse term
  disease 16977
    disease of anatomical entity 16343
      nervous system disease 11927
        central nervous system disease 10245
          brain disease 9612
            disease of mental health 6957
              Neurodevelopmental Disorders 5599
                Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies 1
paths to the root