Details of Disease

General Information of Disease (ID: DIS1AW4X)

Disease Name Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
Synonyms
NEDBEH; neurodevelopmental disorder with or without anomalies of the brain, eye, or heart; rere-related neurodevelopmental syndrome; neurodevelopmental disorder with or without anomalies of the brain, eye, or heart; NEDBEH
Disease Hierarchy
DISYOKTG: Mendelian neurodevelopmental disorder
DIS1AW4X: Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
Disease Identifiers
MONDO ID
MONDO_0014857
UMLS CUI
C4310772
OMIM ID
616975
MedGen ID
934739
Orphanet ID
494344

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
RERE OT3G4GBZ Strong Autosomal dominant [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.