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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 SKELETAL AND BRAIN ABNORMALITIES
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Accession:DOID:9001294 term browser browse the term
Definition:This disease is a multisystemic developmental disorder characterized by feeding difficulties, poor overall growth, and global developmental delay with moderate to severely impaired intellectual development and poor or absent speech. Affected individuals have dysmorphic facial features and skeletal defects, mainly affecting the distal extremities.
Synonyms:exact_synonym: NEDDFSB
 primary_id: MIM:620073


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NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnrnpr heterogeneous nuclear ribonucleoprotein R ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities OMIM
ClinVar		 PMID:9421497 PMID:16757948 PMID:25741868 PMID:26795593 PMID:31079900 NCBI chr 5:148,542,999...148,574,888
Ensembl chr 5:148,543,044...148,574,867 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19047
    Developmental Disease 14521
      Neurodevelopmental Disorders 6942
        NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES 1
Path 2
Term Annotations click to browse term
  disease 19047
    disease of anatomical entity 18381
      nervous system disease 14255
        central nervous system disease 12587
          brain disease 11812
            disease of mental health 8412
              Neurodevelopmental Disorders 6942
                NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES 1
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