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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00148 | Lysosomal acid lipase deficiency | ... recessive lysosomal storage disorders including Wolman disease and Cholesteryl ester storage disease (CESD). This disease is characterized by massive accumulation of cholesteryl ester and triglycerides. Wolman ... | Inherited metabolic disorder, Lysosomal disease | LIPA [HSA:3988] [KO:K01052] | |
| H00506 | Osteogenesis imperfecta | Osteogenesis imperfecta (OI) is characterized by an inherited bone fragility mainly caused by mutations in type I collagen. Poor teeth development, blue sclerae and hearing impairment also manifest in ... | Congenital malformation |
(OI1/2/3/4) COL1A1 [HSA:1277] [KO:K06236] (OI2/3/4) COL1A2 [HSA:1278] [KO:K06236] (OI5) IFITM5 [HSA:387733] [KO:K06566] (OI6) SERPINF1 [HSA:5176] [KO:K19614] (OI7) CRTAP [HSA:10491] [KO:K19606] (OI8) P3H1 [HSA:64175] [KO:K08134] (OI9) PPIB [HSA:5479] [KO:K03768] (OI10) SERPINH1 [HSA:871] [KO:K09501] (OI11) FKBP10 [HSA:60681] [KO:K09575] (OI12) SP7 [HSA:121340] [KO:K09197] (OI13) BMP1 [HSA:649] [KO:K05502] (OI14) TMEM38B [HSA:55151] [KO:K24013] (OI15) WNT1 [HSA:7471] [KO:K03209] (OI16) CREB3L1 [HSA:90993] [KO:K09048] (OI17) SPARC [HSA:6678] [KO:K24262] (OI18) TENT5A [HSA:55603] [KO:K23033] (OI19) MBTPS2 [HSA:51360] [KO:K07765] (OI20) MESD [HSA:23184] [KO:K25366] (OI21) KDELR2 [HSA:11014] [KO:K10949] (OI22) CCDC134 [HSA:79879] [KO:K25417] (OI23) PHLDB1 [HSA:23187] [KO:K23794] |
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| H01841 | Acute encephalopathy with biphasic seizures and late reduced diffusion | Acute encephalopathy with biphasic seizures and reduced diffusion (AESD) is a syndrome of encephalopathy characterized by biphasic seizures. The etiology of AESD has been attributed to viral infection ... | Nervous system disease |
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