congenital nongoitrous hypothyroidism 5

Summary

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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: nkx2-5

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009154 - hypothyroidism, congenital, nongoitrous, 5

MONDO:0009154 - hypothyroidism, congenital, nongoitrous, 5

MIM:

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

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

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view

Parent(s): autosomal dominant disease (is_a), congenital hypothyroidism (is_a)