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Metadata
ID DOID:0050631
Name Allan-Herndon-Dudley syndrome
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.
http://ghr.nlm.nih.gov/condition/allan-herndon-dudley-syndrome, http://omim.org/entry/300523
Xrefs

GARD:5617

MESH:C537047

OMIM:300523

ORDO:59

Synonyms

AHDS [EXACT]

ALLAN-HERNDON SYNDROME [EXACT]

Parent Relationships

is_a syndrome

is_a X-linked recessive disease

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