Details of Disease | DrugMAP

General Information of Disease (ID: DISZ6SY5)

Disease Name	Lymphatic malformation 12
Synonyms	lymphatic malformation 12; LMPHM12; central conducting lymphatic anomaly
Disease Hierarchy	DIS4D8VL: Lymphatic malformation DISZ6SY5: Lymphatic malformation 12
Disease Identifiers	MONDO ID MONDO_0031043 UMLS CUI C5774203 OMIM ID 620014 MedGen ID 1823976

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
MDFIC	OTSRYBWZ	Strong	Autosomal recessive	[1]
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References

1	Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema. Sci Transl Med. 2022 Mar 2;14(634):eabm4869. doi: 10.1126/scitranslmed.abm4869. Epub 2022 Mar 2.