General Information of Disease (ID: DISXFK12)

Disease Name Lymphatic malformation 6
Synonyms lymphedema, hereditary, 3; generalised lymphatic dysplasia of Fotiou; generalized lymphatic dysplasia of Fotiou; lymphedema, hereditary, III; lymphedema, hereditary, type III; LMPH3
Disease Hierarchy
DIS4D8VL: Lymphatic malformation
DISXFK12: Lymphatic malformation 6
Disease Identifiers
MONDO ID
MONDO_0014797
UMLS CUI
C4225184
OMIM ID
616843
MedGen ID
908120
SNOMED CT ID
1222667006

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
PIEZO1 OTBG1FU4 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.