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DOID:0050631 - Allan-Herndon-Dudley syndrome
Disease Ontology Definition:An X-linked disease 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: ALLAN-HERNDON SYNDROME
Echinobase Genes
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| OMIM:300523 - allan-herndon-dudley syndrome; ahds |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
X-linked disease (is_a)