| Metadata | |
|---|---|
| ID | DOID:0070127 |
| Name | congenital nongoitrous hypothyroidism 3 |
| Definition | 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. https://www.ncbi.nlm.nih.gov/pubmed/15870119, https://www.ncbi.nlm.nih.gov/pubmed/8976668 |
| Xrefs | |
| Synonyms |
CHNG3 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance disease has basis in some Abnormality of prenatal development or birth |