Visualize Submit Comment
Metadata
ID DOID:0081030
Name central conducting lymphatic anomaly
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/
Xrefs

MIM:617300

Synonyms

lymphatic malformation-7 [EXACT]

Parent Relationships

is_a lymphatic system disease

is_a autosomal dominant disease

Add an item to the term tracker