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DO Term : congenital nongoitrous hypothyroidism 8 [DOID:0111837] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • OMIM:301033,
  • CHNG8,
  • 301033
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