Browse result page of RareLSD
The total number entries retrieved from this search are 4| Disease_ID | Disorder | Category | ENZYME LEVEL IN PATIENT (nm/h/mg protein) | Mannose-6-Phosphate | Gene | Location |
|---|---|---|---|---|---|---|
| D_1013 | Niemann-Pick disease(type C1 / chronic neuronopathic formD) | Mucolipidosis | nr | no | NPC1 | TMP |
| D_1015 | Niemann-Pick disease(type D / Nova Scotian type) | Mucolipidosis | nr | no | NPC1 | TMP |
| D_1073 | Type 3 Batten–Spielmeyer–Vogt disease / juvenile NCL | Lipofucinosis | nr | yes | CLN3 | TMP |
| D_1104 | Action myoclonus–renal failure (AMRF) | Integral membrane Protein Disorder(OTHER) | nr | na | SCARB2 /LIMP2 | TMP |