1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0070127 | congenital nongoitrous hypothyroidism 3 | A congenital hypothyroidism characterized by autosomal dominant inheritance of resistance to thyrotropin that has_material_basis_in heterozygous mutation in a thyroid-specific TTTG(4) intergenic noncoding short tandem repeat (STR) on chromosome 15q25.1. |
1 Parent Term
Identifier | Name | Description |
---|---|---|
DOID:0050739 | autosomal genetic disease | A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes. |