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(HPO:0001395) | Hepatic fibrosis | 67 / 7739 | ||||
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(HPO:0001433) | Hepatosplenomegaly | 78 / 7739 | ||||
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(HPO:0001508) | Failure to thrive | 454 / 7739 | ||||
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(HPO:0001538) | Protuberant abdomen | 36 / 7739 | ||||
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(HPO:0001922) | Vacuolated lymphocytes | 13 / 7739 | ||||
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(HPO:0002013) | Vomiting | 191 / 7739 | ||||
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(HPO:0002014) | Diarrhea | 225 / 7739 | ||||
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(HPO:0002024) | Malabsorption | 142 / 7739 | ||||
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(HPO:0002040) | Esophageal varix | 23 / 7739 | ||||
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(HPO:0002092) | Pulmonary hypertension | 109 / 7739 | ||||
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(HPO:0002570) | Steatorrhea | 31 / 7739 | ||||
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(HPO:0003124) | Hypercholesterolemia | 53 / 7739 | ||||
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(HPO:0004333) | Bone-marrow foam cells | 11 / 7739 | ||||
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(HPO:0010512) | Adrenal calcification | 2 / 7739 | ||||
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(OMIM) | Diffuse punctate adrenal calcification | 3 / 7739 | ||||
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(OMIM) | Acid cholesteryl ester hydrolase deficiency | 3 / 7739 | ||||
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(OMIM) | Disseminated organ foam cell infiltration | 3 / 7739 | ||||
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(OMIM) | Normal or moderately elevated plasma lipids | 3 / 7739 | ||||
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(OMIM) | Xanthomatous changes in liver, adrenal, spleen, lymph nodes, bone marrow, small intestine, lungs and thymus, and slight changes in skin, retina, and central nervous system | 3 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0001522) | Death in infancy | 275 / 7739 |