|
|
(HPO:0002024) | Malabsorption | Very frequent [Orphanet] | 142 / 7739 | |||
|
|
(HPO:0002570) | Steatorrhea | 31 / 7739 | ||||
|
|
(HPO:0001508) | Failure to thrive | 454 / 7739 | ||||
|
|
(HPO:0002027) | Abdominal pain | Very frequent [Orphanet] | 184 / 7739 | |||
|
|
(HPO:0001541) | Ascites | Frequent [Orphanet] | 94 / 7739 | |||
|
|
(HPO:0001903) | Anemia | Frequent [Orphanet] | 289 / 7739 | |||
|
|
(HPO:0001744) | Splenomegaly | Frequent [Orphanet] | 337 / 7739 | |||
|
|
(HPO:0002240) | Hepatomegaly | Very frequent [Orphanet] | 467 / 7739 | |||
|
|
(HPO:0000834) | Abnormality of the adrenal glands | Occasional [Orphanet] | 14 / 7739 | |||
|
|
(HPO:0001012) | Multiple lipomas | Occasional [Orphanet] | 43 / 7739 | |||
|
|
(HPO:0001399) | Hepatic failure | Very frequent [Orphanet] | 80 / 7739 | |||
|
|
(HPO:0002013) | Vomiting | 191 / 7739 | ||||
|
|
(HPO:0002017) | Nausea and vomiting | Very frequent [Orphanet] | 134 / 7739 | |||
|
|
(HPO:0001945) | Fever | Occasional [Orphanet] | 218 / 7739 | |||
|
|
(HPO:0000962) | Hyperkeratosis | Very frequent [Orphanet] | 216 / 7739 | |||
|
|
(HPO:0004326) | Cachexia | Frequent [Orphanet] | 71 / 7739 | |||
|
|
(HPO:0001396) | Cholestasis | Occasional [Orphanet] | 136 / 7739 | |||
|
|
(HPO:0001395) | Hepatic fibrosis | 67 / 7739 | ||||
|
|
(HPO:0001433) | Hepatosplenomegaly | 78 / 7739 | ||||
|
|
(HPO:0001538) | Protuberant abdomen | 36 / 7739 | ||||
|
|
(HPO:0001922) | Vacuolated lymphocytes | 13 / 7739 | ||||
|
|
(HPO:0002014) | Diarrhea | 225 / 7739 | ||||
|
|
(HPO:0002040) | Esophageal varix | 23 / 7739 | ||||
|
|
(HPO:0002092) | Pulmonary hypertension | 109 / 7739 | ||||
|
|
(HPO:0003124) | Hypercholesterolemia | 53 / 7739 | ||||
|
|
(HPO:0004333) | Bone-marrow foam cells | 11 / 7739 | ||||
|
|
(OMIM) | Diffuse punctate adrenal calcification | 3 / 7739 | ||||
|
|
(OMIM) | Acid cholesteryl ester hydrolase deficiency | 3 / 7739 | ||||
|
|
(OMIM) | Disseminated organ foam cell infiltration | 3 / 7739 | ||||
|
|
(OMIM) | Normal or moderately elevated plasma lipids | 3 / 7739 | ||||
|
|
(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 | ||||
|
|
(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
|
|
(HPO:0004325) | Decreased body weight | Frequent [Orphanet] | 492 / 7739 |