| Field | Value | Evidence |
|---|---|---|
| Disease name | Mucolipidosis type II | (pqac-00000001, pqac-00000004) |
| Preferred synonym | I-cell disease | (pqac-00000001, pqac-00000003) |
| Other synonyms in retrieved sources | Inclusion-cell disease; MLII | (pqac-00000003, pqac-00000005) |
| OMIM ID (MLII) | 252500 | (pqac-00000003) |
| OMIM ID (related MLIII alpha/beta) | 252600 | (pqac-00000004) |
| OMIM ID (related MLIII gamma) | 252605 | (pqac-00000004) |
| MONDO ID | not found in retrieved sources | (pqac-00000001) |
| Orphanet ID | not found in retrieved sources | (pqac-00000001) |
| ICD-10/ICD-11 | not found in retrieved sources | (pqac-00000001) |
| MeSH | not found in retrieved sources | (pqac-00000001) |
| Primary causal gene(s) | GNPTAB (encodes the alpha/beta precursor subunits of GlcNAc-1-phosphotransferase) | (pqac-00000001, pqac-00000004, pqac-00000005) |
| Related gene(s) in allelic/related mucolipidosis | GNPTG (MLIII gamma); GNPTAB also causes MLIII alpha/beta | (pqac-00000004, pqac-00000000) |
| Core molecular defect | Deficiency of N-acetylglucosamine-1-phosphotransferase with failure of mannose-6-phosphate tagging and missorting/hypersecretion of lysosomal enzymes | (pqac-00000001, pqac-00000004, pqac-00000005) |
| Inheritance | Autosomal recessive | (pqac-00000003, pqac-00000004, pqac-00000005) |
| Key nomenclature note | MLII is the severe end of the GNPTAB-related mucolipidosis spectrum; MLIII alpha/beta is the attenuated related form | (pqac-00000000, pqac-00000004) |


*Table: This table summarizes the core disease nomenclature and identifiers for mucolipidosis type II (I-cell disease), including related OMIM entries and causal genes. It is useful as a normalization reference for a disease knowledge base when some ontology identifiers were not available in the retrieved evidence.*