Metadata | |
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ID | DOID:0070128 |
Name | congenital nongoitrous hypothyroidism 6 |
Definition | A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the THRA gene on chromosome 17q21.1. https://www.ncbi.nlm.nih.gov/pubmed/22168587 |
Xrefs | |
Synonyms |
CHNG6 [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 |