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Central Conducting Lymphatic Anomaly

Disease ID: disease_node_18242

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DbxrefMIM:617300
SubclassofDOID_0050736, DOID_75
Data SourceDOID
Synonymslymphatic malformation-7
Doid Labelcentral conducting lymphatic anomaly
Doid DescriptionA 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.
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_18242
Doid IdDOID_0081030
LabelCentral Conducting Lymphatic Anomaly