A disease that has its basis in the disruption of GPI anchor biosynthetic process.
| Disease | ID | Subtypes | Genes |
|---|---|---|---|
| Inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation | MONDO:0017748 | 14 | |
| Paroxysmal nocturnal hemoglobinuria | MONDO:0100244 | 2 | |
| Developmental and epileptic encephalopathy, 55 | MONDO:0033364 | PIGP | |
| Developmental and epileptic encephalopathy, 77 | MONDO:0032808 | PIGQ | |
| Developmental and epileptic encephalopathy, 80 | MONDO:0032822 | PIGB | |
| Glycosylphosphatidylinositol biosynthesis defect 15 | MONDO:0060627 | GPAA1 | |
| Glycosylphosphatidylinositol biosynthesis defect 16 | MONDO:0040500 | PIGC | |
| Glycosylphosphatidylinositol biosynthesis defect 17 | MONDO:0060724 | PIGH | |
| Glycosylphosphatidylinositol biosynthesis defect 18 | MONDO:0029140 | PIGS | |
| Glycosylphosphatidylinositol biosynthesis defect 25 | MONDO:0859271 | ||
| Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures | MONDO:0030037 | PIGK |
Rare disease
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