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deafness-lymphedema-leukemia syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders.
Uniprot Description A chronic disabling condition characterized by swelling of the extremities due to altered lymphatic flow, associated with myelodysplasia. Patients with lymphedema suffer from recurrent local infections, and physical impairment.
Mondo Term and Equivalent IDs
MONDO:0013540:  deafness-lymphedema-leukemia syndrome
GARD:0013030: 
Orphanet:3226: 
SCTID:700057001: 
UMLS:C3279664: