Details of Disease | DrugMAP

General Information of Disease (ID: DIS91YOK)

Disease Name	Diets-Jongmans syndrome
Synonyms	DIJOS; DIETS-JONGMANS SYNDROME; Intellectual Developmental Disorder With Distinctive Facial Dysmorphism; diets-jongmans syndrome
Disease Hierarchy	DISYKSRF: Genetic disease DIS91YOK: Diets-Jongmans syndrome
Disease Identifiers	MONDO ID MONDO_0030012 UMLS CUI C5394263 OMIM ID 618846 MedGen ID 1714920

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KDM3B	OTZU5J5S	Strong	Autosomal dominant	[1]
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References

1	De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism. Am J Hum Genet. 2019 Apr 4;104(4):758-766. doi: 10.1016/j.ajhg.2019.02.023. Epub 2019 Mar 28.