Browse result page of RareLSD
The total number entries retrieved from this search are 5| Disease_ID | Disorder | Category | ENZYME LEVEL IN PATIENT (nm/h/mg protein) | Mannose-6-Phosphate | Gene | Location |
|---|---|---|---|---|---|---|
| D_1098 | Chediak Higashi Syndrome | Hypopigmentation | nr | na | LYST | na |
| D_1099 | Griscelli Syndrome, type 3 | Hypopigmentation | nr | na | MLPH | na |
| D_1100 | Griscelli Syndrome, type 1(Elejalde syndrome) | Hypopigmentation | nr | na | MYO5A | na |
| D_1101 | Griscelli Syndrome, type 2 | Hypopigmentation | nr | na | RAB27A | na |
| D_1102 | Hermanski–Pudlak disease types 1–8 | Hypopigmentation | nr | na | HPSE 1-8 | adaptor |