| Metadata | |
|---|---|
| ID | DOID:0080071 |
| Name | mucolipidosis III alpha/beta |
| Definition | A mucolipidosis that has_material_basis_in mutation in the gene encoding the alpha/beta-subunits precursor gene of GLcNAc-phosphotransferase. https://ghr.nlm.nih.gov/condition/mucolipidosis-iii-alpha-beta |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
mucolipidosis III [EXACT] pseudo-Hurler polydystrophy [EXACT] |
| Parent Relationships |
is_a mucolipidosis |