| Category | Item | Value | Source type | URL | Evidence |
|---|---|---|---|---|---|
| Disease identifier | MONDO (general) | MONDO:0018149 — GM1 gangliosidosis | OpenTargets | https://platform.opentargets.org/disease/MONDO_0018149 | (pqac-00000000) |
| Disease identifier | MONDO (type II) | MONDO:0009261 — GM1 gangliosidosis type 2 | OpenTargets | https://platform.opentargets.org/disease/MONDO_0009261 | (pqac-00000000) |
| Disease identifier | ICD-10 | E75.1 | Paper | https://doi.org/10.3389/fgene.2024.1344051 | (pqac-00000056) |
| Disease identifier | OMIM (type I / type II / type III series) | 230500 / 230600 / 230650 | Paper | https://doi.org/10.3389/fgene.2024.1344051 | (pqac-00000056) |
| Disease identifier | OMIM (type II specific) | 230600 | Paper | https://doi.org/10.1007/8904_2015_451 | (pqac-00000006) |
| Classification | MeSH term | Gangliosidosis, GM1 | Clinical trial metadata | https://clinicaltrials.gov/study/NCT04041102 | (pqac-00000054, pqac-00000055) |
| Classification | Broader category | Lysosomal storage disease; sphingolipidosis; nervous system lysosomal storage disease | Clinical trial metadata | https://clinicaltrials.gov/study/NCT04041102 | (pqac-00000054, pqac-00000055) |
| Causal gene | HGNC gene symbol | GLB1 | OpenTargets / papers | https://platform.opentargets.org/target/ENSG00000170266 | (pqac-00000000, pqac-00000005) |
| Gene product | Enzyme | Lysosomal acid β-galactosidase; beta-galactosidase | Papers | https://doi.org/10.2147/TACG.S206076 | (pqac-00000005, pqac-00000029) |
| Synonym | Common disease name | GM1 gangliosidosis type II | Papers | https://doi.org/10.1016/j.gim.2024.101144 | (pqac-00000013) |
| Synonym | Common disease name | Intermediate GM1 gangliosidosis | Paper | https://doi.org/10.1016/j.bone.2019.115142 | (pqac-00000006, pqac-00000012) |
| Synonym | Common disease name | Juvenile GM1 gangliosidosis | Papers / trial | https://doi.org/10.1186/s12881-017-0417-4 | (pqac-00000003, pqac-00000054) |
| Synonym | Common disease name | Late-infantile GM1 gangliosidosis | Paper | https://doi.org/10.1016/j.jpeds.2019.08.016 | (pqac-00000002) |
| Synonym | Combined subtype label | Late-infantile/juvenile GM1 gangliosidosis | Paper | https://doi.org/10.3389/fgene.2024.1344051 | (pqac-00000056) |
| Synonym | Alternative subtype notation | Type 2a (late-infantile) / Type 2b (juvenile) | Papers | https://doi.org/10.1016/j.jpeds.2019.08.016 | (pqac-00000002, pqac-00000007) |
| Distinguishing description | Spectrum concept | GM1 gangliosidosis is a clinical continuum; type II comprises the late-infantile and juvenile forms | Papers | https://doi.org/10.3389/fgene.2021.734878 | (pqac-00000008, pqac-00000002) |


*Table: This table compiles the main disease identifiers, molecular anchors, and commonly used names for GM1 gangliosidosis type II. It is useful as a normalization aid for mapping literature, ontology terms, and trial records to the same disease concept.*