Details of Disease | DrugMAP

General Information of Disease (ID: DISC82P6)

Disease Name	Hypotrichosis 14
Synonyms	HYPT14; HYPOTRICHOSIS 14
Disease Hierarchy	DISSW933: Hypotrichosis DISC82P6: Hypotrichosis 14
Disease Identifiers	MONDO ID MONDO_0032649 UMLS CUI C4748930 OMIM ID 618275 MedGen ID 1648477

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
LSS	TT7O8ZA	Strong	Genetic Variation	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LSS	OT9W2SFH	Moderate	Autosomal recessive	[2]
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References

1	Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex. Am J Hum Genet. 2018 Nov 1;103(5):777-785. doi: 10.1016/j.ajhg.2018.09.011. Epub 2018 Oct 25.
2	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.