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immunodeficiency-centromeric instability-facial anomalies syndrome
MONDO:0000133
Huntington disease and related disorders
MONDO:0000167
hypercalcemia, infantile
MONDO:0000212
Ochoa syndrome
MONDO:0000463
agenesis of the corpus callosum with peripheral neuropathy
MONDO:0000902
autosomal recessive Ehlers-Danlos syndrome, vascular type
MONDO:0002014