central conducting lymphatic anomaly

Term ID

DOID:0081030

Synonyms

• lymphatic malformation-7

Definition

A lymphatic system disease that is characterized by dysfunction of the thoracic duct or cisterna chyli, leading to a retrograde flux of lymphatic fluid or abnormal drainage of lymphatic fluid and that has_material_basis_in heterozygous mutation in the EPHB4 gene on chromosome 7q22. https://pubmed.ncbi.nlm.nih.gov/31263281/

References

• OMIM:617300

Ontology

Human Disease   ( DOID:0081030 )