Mucolipidosis Ii Alpha/Beta
Disease ID: disease_node_20506
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| Dbxref | GARD:6749, MIM:252500 |
|---|---|
| Subclassof | DOID_0080488 |
| Data Source | DOID |
| Synonyms | I-cell disease, inclusion-cell disease, mucolipidosis II |
| Doid Label | mucolipidosis II alpha/beta |
| Doid Description | A mucolipidosis that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay, caused by a defect in proper lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates, and that has_material_basis_in homozygous or compound heterozygous mutation in the GNPTAB gene. |
| Disease Node Id | disease_node_20506 |
| Doid Id | DOID_0080070 |
| Label | Mucolipidosis Ii Alpha/Beta |
- Outgoing r'ship
SUBCLASS_OFto/from Mucolipidosis(ID:disease_node_20503) (Disease)