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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 CONDITION;   PHIP-RELATED DISORDER
 primary_id: MIM:617991


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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 DYSMORPHISM | ClinVar Annotator: match by term: PHIP-related disorder ClinVar PMID:9536098 PMID:17576681 PMID:23033978 PMID:25741868 PMID:28492532 More... NCBI chr 8:83,731,512...83,748,289
Ensembl chr 8:83,731,507...83,748,289 		JBrowse link
G Phip pleckstrin homology domain interacting protein ISO ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHISM | ClinVar Annotator: match by term: PHIP-related disorder OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23033978 PMID:25741868 More... NCBI chr 8:83,776,802...83,891,192
Ensembl chr 8:83,781,465...83,894,283 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19065
    Developmental Disease 14582
      Neurodevelopmental Disorders 6894
        intellectual disability 4375
          DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES 2
Path 2
Term Annotations click to browse term
  disease 19065
    disease of anatomical entity 18355
      nervous system disease 14221
        central nervous system disease 12556
          brain disease 11776
            disease of mental health 8368
              developmental disorder of mental health 5596
                specific developmental disorder 4595
                  intellectual disability 4375
                    DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES 2
paths to the root