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congenital nongoitrous hypothyroidism 4 (DOID:0070123)
Alliance: disease page
Synonyms: CHNG4; isolated thyrotropin deficiency
Alt IDs: OMIM:275100, ICD10CM:E03.1
Definition: A congenital hypothyroidism characterized by a permanent thyroid deficiency present at birth and resulting from deficiency in TSH synthesis that has_material_basis_in homozygous mutation in the TSHB gene on chromosome 1p13.


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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last database update
05/26/2020
MGI 6.15
The Jackson Laboratory