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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

OMIM:252600

ORDO:577

Synonyms

mucolipidosis III [EXACT]

pseudo-Hurler polydystrophy [EXACT]

Parent Relationships

is_a mucolipidosis

is_a autosomal recessive disease

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