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Summary Literature (1)
DOID:0050631 - Allan-Herndon-Dudley syndrome

Disease Ontology 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.

Synonyms: AHDS, ALLAN-HERNDON SYNDROME,

Xenbase Genes : slc16a2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010354 - Allan-Herndon-Dudley syndrome


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): X-linked monogenic disease (is_a), syndrome (is_a)