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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: MIM: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 chr 6:127,113,440...127,184,328
Ensembl chr 6:127,113,442...127,184,371 		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 chr 6:127,090,115...127,113,195
Ensembl chr 6:127,090,569...127,113,191 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19047
    Developmental Disease 14521
      Neurodevelopmental Disorders 6942
        intellectual disability 4380
          INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES 2
Path 2
Term Annotations click to browse term
  disease 19047
    disease of anatomical entity 18381
      nervous system disease 14255
        central nervous system disease 12587
          brain disease 11812
            disease of mental health 8412
              developmental disorder of mental health 5641
                specific developmental disorder 4600
                  intellectual disability 4380
                    INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES 2
paths to the root