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Disease Ontology Browser
Allan-Herndon-Dudley syndrome (DOID:0050631)
Alliance: disease page
Synonyms: ALLAN-HERNDON SYNDROME
Alt IDs: OMIM:300523, MESH:C537047
Definition: A X-linked recessive 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.

Disease References using Mouse Models (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
12/03/2019
MGI 6.14
The Jackson Laboratory