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Summary Literature (0)
DOID:0070124 - congenital nongoitrous hypothryoidism 2


Disease Ontology Definition:A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the PAX8 gene on chromosome 2q13.

Synonyms: CHNG2, congenital hypothyroidism due to thyroid dysgenesis or hypoplasia

In OMIM:
OMIM:218700 - HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2

In Mondo Disease Ontology:
MONDO:0024264 - hypothyroidism, congenital, nongoitrous, 2

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : pax8

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): congenital hypothyroidism (is_a)