congenital nongoitrous hypothyroidism 5 Disease Ontology Browser

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Disease Ontology Browser

congenital nongoitrous hypothyroidism 5 (DOID:0070125)
Alliance: disease page
Synonyms: CHNG5
Alt IDs: OMIM:225250, ICD10CM:E03.1, ORDO:90673
Definition: A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35.

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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