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Metadata
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 TBL1X on chromosome Xp22.3-p22.2.
https://www.ncbi.nlm.nih.gov/pubmed/27603907
Xrefs

OMIM:301033

Synonyms

CHNG8 [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a congenital hypothyroidism

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