About   Help   FAQ
Disease Ontology Browser
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
11/12/2024
MGI 6.24
The Jackson Laboratory