FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term mucolipidosis III alpha/beta ID (Ontology) DOID:0080071 (Human Disease)
Definition A mucolipidosis that has_material_basis_in mutation in the gene encoding the alpha/beta-subunits precursor gene of GLcNAc-phosphotransferase.
Also Known As "mucolipidosis III" ; "pseudo-Hurler polydystrophy"
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 Genes
 mucolipidosis III alpha/beta       1
 for disease ribbon | mucolipidosis III alpha/beta       1
 model of | mucolipidosis III alpha/beta       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
lipid storage disease            |
 |__mucolipidosis________________|
                                 mucolipidosis III alpha/beta  1 rec.
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Is a autosomal recessive disease
mucolipidosis
Part of
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Synonyms
  • "mucolipidosis III" EXACT
    "pseudo-Hurler polydystrophy" EXACT
Secondary IDs
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MIM:252600
ORDO:577