Details of Disease

General Information of Disease (ID: DIS0VF8U)

Disease Name Lymphatic malformation 9
Synonyms LMPHM9; lymphatic malformation 9
Disease Hierarchy
DIS4D8VL: Lymphatic malformation
DIS0VF8U: Lymphatic malformation 9
Disease Identifiers
MONDO ID
MONDO_0030270
UMLS CUI
C5543365
OMIM ID
619319
MedGen ID
1779656

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
CELSR1 OT7PS8O1 Strong Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 A novel mutation in CELSR1 is associated with hereditary lymphedema. Vasc Cell. 2016 Feb 5;8:1. doi: 10.1186/s13221-016-0035-5. eCollection 2016.