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Repository for lectin-assisted multimodality data
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mucolipidosis II alpha/beta
Summary
- Synonym
-
- I-cell disease
- inclusion-cell disease
- mucolipidosis II
- Definition
- 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.
- Super Class
- mucolipidosis
External Links
- Disease Ontology
- DOID:0080070
- Mondo Disease Ontology
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q3T906 | N-acetylglucosamine-1-phosphotransferase subunits alpha/beta |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q61340 | Basic domain/leucine zipper transcription factor (Fragment) |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q5RGJ8 | N-acetylglucosamine-1-phosphotransferase subunits alpha/beta |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0011344 | Severe global developmental delay |
| HP:0011461 | Fetal onset |
| HP:0011463 | Childhood onset |
| HP:0012385 | Camptodactyly |
| HP:0100540 | Palpebral edema |
