Details of Disease

General Information of Disease (ID: DISBS7R7)

Disease Name ATR-X-related syndrome
Synonyms ATR-X-related syndrome
Definition The obsoletion of this term has been reversed in the Mondo release of January 2024.
Disease Hierarchy
DISG1YOH: X-linked syndromic intellectual disability
DISBS7R7: ATR-X-related syndrome

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
ATRX OT77RSQW Definitive X-linked [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.