Details of Disease

General Information of Disease (ID: DIS9G47C)

Disease Name Arthrogryposis, distal, type 2B2
Synonyms DA2B2; arthrogryposis, distal, type 2B2
Disease Hierarchy
DISOCVMC: Sheldon-hall syndrome
DIS3HIWD: Autosomal dominant disease
DIS9G47C: Arthrogryposis, distal, type 2B2
Disease Identifiers
MONDO ID
MONDO_0032750
UMLS CUI
C5193097
OMIM ID
618435
MedGen ID
1674500

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
TNNT3 OT4C498E Moderate 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.