Details of Disease

General Information of Disease (ID: DISC9HS8)

Disease Name Trichothiodystrophy 5, nonphotosensitive
Synonyms TTD5; RNF113A nonphotosensitive trichothiodystrophy; nonphotosensitive trichothiodystrophy caused by mutation in RNF113A; trichothiodystrophy 5, nonphotosensitive
Definition Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the RNF113A gene.
Disease Hierarchy
DISOMQD2: Trichothiodystrophy
DISC9HS8: Trichothiodystrophy 5, nonphotosensitive
Disease Identifiers
MONDO ID
MONDO_0010495
UMLS CUI
C4225420
OMIM ID
300953
MedGen ID
899675

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
RNF113A OTR6N7HU Strong X-linked [1]
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References

1 A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A. J Med Genet. 2015 Apr;52(4):269-74. doi: 10.1136/jmedgenet-2014-102418. Epub 2015 Jan 22.