congenital nongoitrous hypothyroidism 2 Disease Ontology Browser

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Disease Ontology Browser

congenital nongoitrous hypothyroidism 2 (DOID:0070124)
Alliance: disease page
Synonyms: CHNG2; congenital hypothyroidism due to thyroid dysgenesis or hypoplasia
Alt IDs: OMIM:218700, ICD10CM:E03.1
Definition: A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the PAX8 gene on chromosome 2q13.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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