OBO ID: DOID:0080071
Term Name: mucolipidosis III alpha/beta Search Ontology:
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 mucolipidosis III alpha/beta PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GNPTAB Mucolipidosis III alpha/beta 252600
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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