OBO ID: DOID:0080070 |
Term Name: | mucolipidosis II alpha/beta | Search Ontology: | |
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Synonyms: |
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Definition: | A mucolipidosis that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay, caused by a defect in proper lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates, and that has_material_basis_in homozygous or compound heterozygous mutation in the GNPTAB gene. (6) | ||
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Ontology: | Human Disease ( DOID:0080070 ) |
OTHER mucolipidosis II alpha/beta PAGES
ZEBRAFISH MODELS
Fish | Conditions | Citations |
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WT + MO1-gnptab | control | Flanagan-Steet et al., 2018 |
standard conditions | (2) | |
WT + MO2-gnptab | standard conditions | Flanagan-Steet et al., 2009 |
y1Tg + MO2-gnptab | standard conditions | Petrey et al., 2012 |
PHENOTYPE
No data available
CITATIONS (4)
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