Details of Disease | DrugMAP

General Information of Disease (ID: DISESXS1)

Disease Name	Alopecia-intellectual disability syndrome 4
Synonyms	alopecia-mental retardation syndrome 4; ALOPECIA-MENTAL RETARDATION SYNDROME 4; alopecia-intellectual disability syndrome 4; APMR4
Disease Hierarchy	DISXHSME: Alopecia - intellectual disability syndrome DISESXS1: Alopecia-intellectual disability syndrome 4
Disease Identifiers	MONDO ID MONDO_0030009 UMLS CUI C5394241 OMIM ID 618840 MedGen ID 1713432

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
LSS	OT9W2SFH	Strong	Autosomal recessive	[1]
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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.