Details of Disease | DrugMAP

General Information of Disease (ID: DISSPGQX)

Disease Name	Ichthyosis, congenital, autosomal recessive 13
Synonyms	autosomal recessive congenital ichthyosis 13; ARCI13; ichthyosis, congenital, autosomal recessive 13
Disease Hierarchy	DISVMSR6: Autosomal recessive congenital ichthyosis DISSPGQX: Ichthyosis, congenital, autosomal recessive 13
Disease Identifiers	MONDO ID MONDO_0033092 UMLS CUI C4539772 OMIM ID 617574 MedGen ID 1620886

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
SDR9C7	OTQY8SJ3	Strong	Autosomal recessive	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.