Mucolipidosis Iii Alpha/Beta
Disease ID: disease_node_20505
Connections displayed (default: 10).
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| Dbxref | MIM:252600, ORDO:577 |
|---|---|
| Subclassof | DOID_0050737, DOID_0080488 |
| Data Source | DOID |
| Synonyms | mucolipidosis III, pseudo-Hurler polydystrophy |
| Doid Label | mucolipidosis III alpha/beta |
| Doid Description | A mucolipidosis that has_material_basis_in mutation in the gene encoding the alpha/beta-subunits precursor gene of GLcNAc-phosphotransferase. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20505 |
| Doid Id | DOID_0080071 |
| Label | Mucolipidosis Iii Alpha/Beta |
- Outgoing r'ship
SUBCLASS_OFto/from Mucolipidosis(ID:disease_node_20503) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)