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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
For additional species annotation, visit the Alliance of Genome Resources.


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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
OMIM
PMID:25741868 PMID:29351919 PMID:30929739 NCBI chr18:26,380,859...26,436,701
Ensembl chr18:26,380,964...26,436,628
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    syndrome 8125
      Diets-Jongmans Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        central nervous system disease 10373
          brain disease 9736
            disease of mental health 7038
              developmental disorder of mental health 4374
                specific developmental disorder 3633
                  intellectual disability 3444
                    Diets-Jongmans Syndrome 1
paths to the root