Details of Disease

General Information of Disease (ID: DISGUZY7)

Disease Name Tessadori-Van Haaften neurodevelopmental syndrome 3
Synonyms TEVANED3; Tessadori-Van Haaften neurodevelopmental syndrome 3
Disease Hierarchy
DISH3YM1: Tessadori-Van-Haaften neurodevelopmental syndrome
DISGUZY7: Tessadori-Van Haaften neurodevelopmental syndrome 3
Disease Identifiers
MONDO ID
MONDO_0030993
UMLS CUI
C5774310
OMIM ID
619950
MedGen ID
1824083

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
H4C5 OTB71W46 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.