Details of Disease | DrugMAP

General Information of Disease (ID: DISY9ICJ)

Disease Name	Ichthyosis, lamellar, autosomal dominant
Synonyms	lamellar ichthyosis, autosomal dominant; ichthyosis lamellar, autosomal dominant; ichthyosis, lamellar, autosomal dominant
Disease Hierarchy	DIS714UN: Lamellar ichthyosis DISY9ICJ: Ichthyosis, lamellar, autosomal dominant
Disease Identifiers	MONDO ID MONDO_0007812 MESH ID C537263 UMLS CUI C0432304 OMIM ID 146750 MedGen ID 98486 SNOMED CT ID 254164007

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
ASPRV1	OT8WVIBW	Strong	Autosomal dominant	[1]
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References

1	Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis. Am J Hum Genet. 2020 Jul 2;107(1):158-163. doi: 10.1016/j.ajhg.2020.05.013. Epub 2020 Jun 8.