OBO ID: DOID:0050631 |
Term Name: | Allan-Herndon-Dudley syndrome | Search Ontology: | |
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Definition: | A syndrome that has_material_basis_in mutation at is in the gene encoding the monocarboxylate transporter-8 which alters the structure and function of the SLC16A2 protein which is then unable to transport the thyroid triiodothyronine (T3) hormone into nerve cells of the developing brain affecting normal brain development resulting in intellectual disability and problems with movement. (2) | ||
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Ontology: | Human Disease ( DOID:0050631 ) |
OTHER Allan-Herndon-Dudley syndrome PAGES
ZEBRAFISH MODELS
Fish | Conditions | Citations |
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slc16a2biu4/biu4 | standard conditions | Zada et al., 2014 |
WT + MO3-slc16a2 | standard conditions | de Vrieze et al., 2014 |
slc16a2biu4/biu4; ck1Tg | control | Zada et al., 2016 |
PHENOTYPE
No data available
CITATIONS (5)
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