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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 WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES
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Accession:DOID:9000289 term browser browse the term
Definition:A disease characterized by generally mild global developmental delay with variably impaired intellectual development, walking by 2 to 3 years, and slow language acquisition.
Synonyms:exact_synonym: DEFDA
 pimary_id: OMIM:619228
For additional species annotation, visit the Alliance of Genome Resources.


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DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Satb1 SATB homeobox 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES ClinVar
OMIM
PMID:33513338 NCBI chr 9:2,181,135...2,277,949
Ensembl chr 9:2,190,915...2,274,629
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    Stomatognathic Diseases 980
      Stomatognathic System Abnormalities 370
        Tooth Abnormalities 150
          DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES 1
Path 2
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      nervous system disease 11871
        central nervous system disease 10202
          brain disease 9574
            disease of mental health 6932
              Neurodevelopmental Disorders 5567
                Developmental Disabilities 519
                  DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES 1
paths to the root