Details of Disease | DrugMAP

General Information of Disease (ID: DIS5569Z)

Disease Name	Neurodevelopmental, jaw, eye, and digital syndrome
Synonyms	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; neurodevelopmental, jaw, eye, and digital syndrome; NEDJED
Disease Hierarchy	DISYKSRF: Genetic disease DIS5569Z: Neurodevelopmental, jaw, eye, and digital syndrome
Disease Identifiers	MONDO ID MONDO_0030057 UMLS CUI C5394477 OMIM ID 618914 MedGen ID 1712714

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
FBXW11	OT2A6RLR	Strong	Autosomal dominant	[1]
------------------------------------------------------------------------------------

References

1	De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies. Am J Hum Genet. 2019 Sep 5;105(3):640-657. doi: 10.1016/j.ajhg.2019.07.005. Epub 2019 Aug 8.