Details of Disease

General Information of Disease (ID: DISLN90E)

Disease Name Tessadori-van Haaften neurodevelopmental syndrome 2
Synonyms Tessadori-van Haaften neurodevelopmental syndrome 2; TEVANED2
Disease Hierarchy
DISH3YM1: Tessadori-Van-Haaften neurodevelopmental syndrome
DISLN90E: Tessadori-van Haaften neurodevelopmental syndrome 2
Disease Identifiers
MONDO ID
MONDO_0030730
UMLS CUI
C5676923
OMIM ID
619759
MedGen ID
1803228

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
H4C11 OTB71W46 Limited 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.