congenital nongoitrous hypothyroidism 8

Term ID

DOID:0111837

Synonyms

• CHNG8

Definition

A congenital hypothyroidism characterized by relatively mild central hypothyroidism that has_material_basis_in heterozygous or hemizygous mutation in the TBL1X gene on chromosome Xp22.3-p22.2. https://www.ncbi.nlm.nih.gov/pubmed/27603907

References

• OMIM:301033

Ontology

Human Disease   ( DOID:0111837 )