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1.

Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome

Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome is an autosomal dominant disorder characterized by these 4 features, which begin in early childhood and are progressive (summary by Moalem et al., 2015). [from OMIM]

MedGen UID:
1373459
Concept ID:
C4317151
Disease or Syndrome
2.

Abnormal renal glomerulus morphology

A structural anomaly of the glomerulus. [from HPO]

MedGen UID:
871392
Concept ID:
C4025889
Anatomical Abnormality

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