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Summary Literature (0)
DOID:0070123 - congenital nongoitrous hypothyroidism 4

Disease Ontology Definition:A congenital hypothyroidism characterized by a permanent thyroid deficiency present at birth and resulting from deficiency in TSH synthesis that has_material_basis_in homozygous mutation in the TSHB gene on chromosome 1p13.

Synonyms: CHNG4, isolated thyrotropin deficiency

Xenbase Genes : tshb

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010139 - isolated thyroid-stimulating hormone deficiency


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)