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Summary Literature (0)
DOID:0070128 - congenital nongoitrous hypothyroidism 6

Disease Ontology Definition:A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the THRA gene on chromosome 17q21.1.

Synonyms: CHNG6

Xenbase Genes : thra

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0013757 - capillary blood

MIM:
MIM:614450 - HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), congenital hypothyroidism (is_a)