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lymphedema, hereditary, 1D

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any hereditary lymphedema in which the cause of the disease is a mutation in the VEGFC gene.
Uniprot Description A chronic disabling condition which results in swelling of the extremities due to altered lymphatic flow. Patients with lymphedema suffer from recurrent local infections and physical impairment.
Disease Ontology Description A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the VEGFC gene on chromosome 4q34.
Mondo Term and Equivalent IDs
MONDO:0014393:  lymphedema, hereditary, 1D
UMLS:C4014628: