Details of Disease | DrugMAP

General Information of Disease (ID: DISQ0Z8H)

Disease Name	Trichothiodystrophy 9, nonphotosensitive
Synonyms	TTD9
Disease Hierarchy	DISOMQD2: Trichothiodystrophy DISQ0Z8H: Trichothiodystrophy 9, nonphotosensitive
Disease Identifiers	MONDO ID MONDO_0030518 UMLS CUI C5562058 OMIM ID 619692 MedGen ID 1794268

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
MARS1	DE0K52I	Limited	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MARS1	OTLJ6MHJ	Limited	Autosomal recessive	[1]
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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.