| Metadata | |
|---|---|
| ID | DOID:0070125 |
| Name | congenital nongoitrous hypothyroidism 5 |
| Definition | A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35. https://www.ncbi.nlm.nih.gov/pubmed/16418214 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
CHNG5 [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 |