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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, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
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Accession:DOID:9000949 term browser browse the term
Definition:A disorder characterized by global developmental delay apparent from infancy, intellectual disability or learning difficulties, behavioral abnormalities, dysmorphic features, and obesity.
Synonyms:exact_synonym: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHISM;   DIDOD;   PHIP-RELATED DISORDER
 primary_id: OMIM:617991
For additional species annotation, visit the Alliance of Genome Resources.


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DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irak1bp1 interleukin-1 receptor-associated kinase 1 binding protein 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
ClinVar Annotator: match by term: Developmental delay, intellectual disability, obesity, and dysmorphic features
ClinVar PMID:23033978 PMID:25741868 PMID:29209020 NCBI chr 8:90,343,307...90,360,085
Ensembl chr 8:90,343,154...90,360,086
JBrowse link
G Phip pleckstrin homology domain interacting protein ISO ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
ClinVar Annotator: match by term: Developmental delay, intellectual disability, obesity, and dysmorphic features
ClinVar
OMIM
PMID:23033978 PMID:25741868 PMID:27479843 PMID:27900362 PMID:28263302 PMID:29209020 NCBI chr 8:90,387,339...90,483,964
Ensembl chr 8:90,392,143...90,483,077
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16158
    Developmental Disease 9628
      Neurodevelopmental Disorders 4577
        intellectual disability 2193
          DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES 2
Path 2
Term Annotations click to browse term
  disease 16158
    disease of anatomical entity 15408
      nervous system disease 11007
        central nervous system disease 9126
          brain disease 8438
            disease of mental health 6024
              developmental disorder of mental health 3164
                specific developmental disorder 2345
                  intellectual disability 2193
                    DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES 2
paths to the root