Details of Disease

General Information of Disease (ID: DISW8OID)

Disease Name Trichothiodystrophy 2, photosensitive
Synonyms TTD2; trichothiodystrophy 2, photosensitive
Disease Hierarchy
DIS2H1LL: Photosensitive trichothiodystrophy
DISW8OID: Trichothiodystrophy 2, photosensitive
Disease Identifiers
MONDO ID
MONDO_0014615
UMLS CUI
C4225344
OMIM ID
616390
MedGen ID
905904

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
ERCC3 OTVAW3P1 Limited Autosomal recessive [1]
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References

1 The relative expression of mutated XPB genes results in xeroderma pigmentosum/Cockayne's syndrome or trichothiodystrophy cellular phenotypes. Hum Mol Genet. 1999 Jun;8(6):1125-33. doi: 10.1093/hmg/8.6.1125.