| Metadata | |
|---|---|
| ID | DOID:0080070 |
| Name | mucolipidosis II alpha/beta |
| 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. https://en.wikipedia.org/wiki/I-cell_disease, https://ghr.nlm.nih.gov/condition/mucolipidosis-ii-alpha-beta, https://pubmed.ncbi.nlm.nih.gov/16116615/, https://rarediseases.org/rare-diseases/i-cell-disease/, https://www.ncbi.nlm.nih.gov/books/NBK1828/, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336676/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
I-cell disease [EXACT] inclusion-cell disease [EXACT] mucolipidosis II [EXACT] |
| Parent Relationships |
is_a mucolipidosis |