Details of Disease

General Information of Disease (ID: DIS30UOW)

Disease Name Trichothiodystrophy 8, nonphotosensitive
Synonyms TTD8
Disease Hierarchy
DISOMQD2: Trichothiodystrophy
DIS30UOW: Trichothiodystrophy 8, nonphotosensitive
Disease Identifiers
MONDO ID
MONDO_0030517
UMLS CUI
C5562057
OMIM ID
619691
MedGen ID
1794267

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
AARS1 OTW8D813 Limited Unknown [1]
------------------------------------------------------------------------------------

References

1 Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy. Hum Mol Genet. 2021 Aug 28;30(18):1711-1720. doi: 10.1093/hmg/ddab123.