About: Allan-Herndon-Dudley syndrome

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About: Allan-Herndon-Dudley syndrome Goto Sponge NotDistinct Permalink

An Entity of Type : owl:Class, within Data Space : demo.openlinksw.com associated with source document(s)

OMIM mapping confirmed by DO. [SN].

Attributes	Values
type	Class
subClassOf	X-linked recessive disease syndrome nodeID://b50937288
label	Allan-Herndon-Dudley syndrome
comment	OMIM mapping confirmed by DO. [SN].
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0050631
database_cross_reference	GARD:5617 MESH:C537047 OMIM:300523 ORDO:59
has_exact_synonym	AHDS (en) ALLAN-HERNDON SYNDROME (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	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.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50937289

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