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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:Diets-Jongmans Syndrome
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Accession:DOID:9005801 term browser browse the term
Definition:An autosomal dominant disorder characterized by mild to moderately impaired intellectual development with a recognizable facial gestalt. Caused by heterozygous mutation in the KDM3B gene on chromosome 5q31. (OMIM)
Synonyms:exact_synonym: DIJOS;   IDDFD;   INTELLECTUAL DEVELOPMENTAL DISORDER WITH DISTINCTIVE FACIAL DYSMORPHISM
 primary_id: OMIM:618846
 xref: EFO:0010740


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Diets-Jongmans Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdm3b lysine demethylase 3B ISO ClinVar Annotator: match by term: Diets-Jongmans syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DISTINCTIVE FACIAL DYSMORPHISM OMIM
ClinVar		 PMID:25741868 PMID:29351919 PMID:30929739 NCBI chr18:26,380,859...26,436,701
Ensembl chr18:26,380,964...26,436,628 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      Diets-Jongmans Syndrome 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            disease of mental health 8321
              developmental disorder of mental health 5554
                specific developmental disorder 4518
                  intellectual disability 4300
                    Diets-Jongmans Syndrome 1
paths to the root