Details of Disease | DrugMAP

General Information of Disease (ID: DISAVQ0W)

Disease Name	Ehlers-Danlos syndrome, classic-like, 2
Synonyms	Ehlers-Danlos syndrome, classic-like, 2; EDSCLL2
Disease Hierarchy	DISCPWH9: Autosomal recessive disease DISSVBRR: Ehlers-Danlos syndrome DISAVQ0W: Ehlers-Danlos syndrome, classic-like, 2
Disease Identifiers	MONDO ID MONDO_0054813 UMLS CUI C4693870 OMIM ID 618000 MedGen ID 1632001 Orphanet ID 536532 SNOMED CT ID 1255121003

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
AEBP1	OTBI1RZ6	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.