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| 528623 | Hereditary angioedema with C1Inh deficiency
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| 528647 | Hereditary angioedema with normal C1Inh
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| 528663 | Acquired angioedema with C1Inh deficiency
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| 512017 | Chronic lymphoproliferative disorder of natural killer cells
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| 512034 | Large granular lymphocyte leukemia
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| 512103 | Autosomal recessive epidermolytic ichthyosis
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| 512260 | Congenital cerebellar ataxia due to RNU12 mutation
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| 514352 | Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome
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| 513436 | Autosomal recessive spastic paraplegia type 78
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| 513456 | Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome
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| 99141 | Lymphedema-posterior choanal atresia syndrome
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