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Summary Literature (0)
DOID:0070126 - congenital nongoitrous hypothyroidism 1

Disease Ontology Definition:A congenital hypothyroidism that has_material_basis_in mutation in the TSHR gene on chromosome 14q31.

Synonyms: CHNG1, TSH resistance

Xenbase Genes : tshr

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010142 - hypothyroidism due to TSH receptor mutations


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

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