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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:INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES
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Accession:DOID:9009238 term browser browse the term
Synonyms:exact_synonym: IDDHDF
 primary_id: OMIM:618147


show annotations for term's descendants           Sort by:
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC85C coiled-coil domain containing 85C ISO ClinVar Annotator: match by term: Intellectual developmental disorder with hypertelorism and distinctive facies ClinVar PMID:25741868 PMID:38177409 NCBI chr14:80,134,889...80,229,717 JBrowse link
G CCNK cyclin K ISO ClinVar Annotator: match by term: Intellectual developmental disorder with hypertelorism and distinctive facies OMIM
ClinVar		 PMID:25741868 PMID:30122539 PMID:38177409 NCBI chr14:80,105,372...80,136,511
Ensembl chr14:99,438,814...99,480,842 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    Developmental Disease 17885
      Neurodevelopmental Disorders 6850
        intellectual disability 4322
          INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES 2
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        central nervous system disease 11923
          brain disease 11204
            disease of mental health 8111
              developmental disorder of mental health 5547
                specific developmental disorder 4510
                  intellectual disability 4322
                    INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES 2
paths to the root