Details of Disease

General Information of Disease (ID: DISP04IM)

Disease Name Ehlers-Danlos syndrome, periodontal type 2
Synonyms EDSPD2; Ehlers-Danlos syndrome, periodontal type, 2
Disease Hierarchy
DISB3QMD: Ehlers-Danlos syndrome, periodontitis type
DISP04IM: Ehlers-Danlos syndrome, periodontal type 2
Disease Identifiers
MONDO ID
MONDO_0014954
UMLS CUI
C4310681
OMIM ID
617174
MedGen ID
934648

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
C1S TT7LRQH Strong Autosomal dominant [1]
C1S TT7LRQH Strong Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
C1S OTCIZU2A Strong Autosomal dominant [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.
2 The Ehlers-Danlos syndromes, rare types. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):70-115. doi: 10.1002/ajmg.c.31550.