| Metadata | |
|---|---|
| ID | DOID:0070126 |
| Name | congenital nongoitrous hypothyroidism 1 |
| Definition | A congenital hypothyroidism that has_material_basis_in mutation in the TSHR gene on chromosome 14q31. https://www.ncbi.nlm.nih.gov/pubmed/8954020 |
| Xrefs | |
| Synonyms |
CHNG1 [EXACT] TSH resistance [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance disease has basis in some Abnormality of prenatal development or birth |