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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 or without Dysmorphic Facies and Autism
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Accession:DOID:9009182 term browser browse the term
Definition:A complex neurodevelopmental disorder apparent from infancy or early childhood and associated with variably impaired intellectual development. Genetic analysis has suggested that the phenotype can be broadly categorized into 2 main groups, with severity being the main difference.
Synonyms:exact_synonym: DEDDFA;   TRRAP-RELATED NEURODEVELOPMENTAL DISORDER
 broad_synonym: TRRAP-RELATED CONDITION;   TRRAP-RELATED DISORDER
 primary_id: OMIM:618454

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Developmental Delay with or without Dysmorphic Facies and Autism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trrap transformation/transcription domain associated protein ISO ClinVar Annotator: match by term: Developmental delay with or without dysmorphic facies and autism | ClinVar Annotator: match by term: TRRAP-Related Disorder | ClinVar Annotator: match by term: TRRAP-related condition | ClinVar Annotator: match by term: TRRAP-related neurodevelopmental disorder OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30424743 More... NCBI chrNW_004955460:14,641,891...14,761,641
Ensembl chrNW_004955460:14,644,133...14,760,787 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    Developmental Disease 15996
      Neurodevelopmental Disorders 6190
        Developmental Disabilities 751
          Developmental Delay with or without Dysmorphic Facies and Autism 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        central nervous system disease 10855
          brain disease 10186
            disease of mental health 7327
              Neurodevelopmental Disorders 6190
                Developmental Disabilities 751
                  Developmental Delay with or without Dysmorphic Facies and Autism 1
paths to the root