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Summary Literature (0)
DOID:0070125 - congenital nongoitrous hypothyroidism 5

Disease Ontology Definition:A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35.

Synonyms: CHNG5,

Xenbase Genes : nkx2-5

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009154 - hypothyroidism, congenital, nongoitrous, 5

OMIM:
OMIM:225250 - HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5; CHNG5

Other Model Organisms: AGR, 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)