Search Ontology:
Human Disease

mucolipidosis III alpha/beta

Term ID
DOID:0080071
Synonyms
  • mucolipidosis III
  • pseudo-Hurler polydystrophy
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
References
Ontology
Human Disease   ( DOID:0080071 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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