Metadata | |
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ID | DOID:0111837 |
Name | congenital nongoitrous hypothyroidism 8 |
Definition | A congenital hypothyroidism characterized by relatively mild central hypothyroidism that has_material_basis_in heterozygous or hemizygous mutation in the TBL1X gene on chromosome Xp22.3-p22.2. https://www.ncbi.nlm.nih.gov/pubmed/27603907 |
Xrefs | |
Synonyms |
CHNG8 [EXACT] |
Parent Relationships |