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hypotrichosis-lymphedema-telangiectasia-renal defect syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Uniprot Description A syndrome characterized by sparse hair, lymphatic edemas, peripheral vein anomalies, and renal disease.
Mondo Term and Equivalent IDs
MONDO:0019073:  hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
DOID:0111360: 
GARD:0002492: 
MESH:C536825: 
UMLS:CN205563: