| Metadata | |
|---|---|
| ID | DOID:0070123 |
| Name | congenital nongoitrous hypothyroidism 4 |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/2792087 |
| Xrefs | |
| Synonyms |
CHNG4 [EXACT] isolated thyrotropin deficiency [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 |