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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 OMIM
ClinVar
PMID:25741868 PMID:33513338 PMID:34782754 NCBI chr 9:4,677,817...4,773,061
Ensembl chr 9:4,680,920...4,753,251
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    Stomatognathic Diseases 1158
      Stomatognathic System Abnormalities 424
        Tooth Abnormalities 154
          DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES 1
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      nervous system disease 13146
        central nervous system disease 11274
          brain disease 10560
            disease of mental health 7489
              Neurodevelopmental Disorders 6142
                Developmental Disabilities 655
                  DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES 1
paths to the root