Wolman disease
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Acid cholesteryl ester hydrolase deficiency, type 2 | C2936797 | LIPA | Causal Pathogenic evidence from ClinVar | 8254026, 12666227 | ClinVar |
| Wolman disease | 75233 | LIPA | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| Wolman Disease | C0043208 | LIPA | Causal Pathogenic evidence from ClinVar | 2129132, 7499245, 7759067, 7833918, 8146180, 8254026, 8598644, 8617513, 8864960, 8894696, 9367797, 9554751, 9633819, 9684740, 10562460, 10627498, 11441129, 12666227, 21291321, 21757691, 21963785, 22138108, 22227072, 23424026, 23430518, 23485521, 23583223, 24048164, 24072694, 24792990, 24993530, 25525159, 25620107, 25624737, 26252914, 27604308, 28502515, 31180157 | ClinVar |