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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:developmental delay, dysmorphic facies, and brain anomalies
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Accession:DOID:0060933 term browser browse the term
Definition:An autosomal dominant intellectual developmental disorder characterized by global developmental delay with impaired intellectual development, speech delay, nonspecific dysmorphic facial features, hypotonia, and impaired overall growth with small head circumference that has_material_basis_in heterozygous mutation in the U2AF2 gene on chromosome 19q13. (DO)
Synonyms:exact_synonym: DEVDFB
 primary_id: OMIM:620535
 alt_id: DOID:9003387


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developmental delay, dysmorphic facies, and brain anomalies term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G U2af2 U2 small nuclear RNA auxiliary factor 2 ISO ClinVar Annotator: match by term: Developmental delay, dysmorphic facies, and brain anomalies ClinVar
OMIM		 PMID:28492532 PMID:34112922 PMID:36747105 PMID:37092751 NCBI chr 1:68,760,911...68,779,730
Ensembl chr 1:68,760,924...68,778,492 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18248
      nervous system disease 14089
        Nervous System Malformations 2379
          developmental delay, dysmorphic facies, and brain anomalies 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18248
      nervous system disease 14089
        central nervous system disease 12429
          brain disease 11667
            disease of mental health 8318
              developmental disorder of mental health 5554
                specific developmental disorder 4518
                  intellectual disability 4301
                    autosomal dominant intellectual developmental disorder 447
                      developmental delay, dysmorphic facies, and brain anomalies 1
paths to the root