Details of Disease

General Information of Disease (ID: DIS2MS40)

Disease Name Trichothiodystrophy 3, photosensitive
Synonyms trichothiodystrophy, complementation group A; TTD3; trichothiodystrophy 3, photosensitive
Disease Hierarchy
DIS2H1LL: Photosensitive trichothiodystrophy
DIS2MS40: Trichothiodystrophy 3, photosensitive
Disease Identifiers
MONDO ID
MONDO_0014619
UMLS CUI
C4017171
OMIM ID
616395
MedGen ID
865608

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
GTF2H5 OTRL219S Strong Autosomal recessive [1]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.