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Metadata
ID DOID:0070127
Name congenital nongoitrous hypothyroidism 3
Definition A congenital hypothyroidism characterized by autosomal dominant inheritance of resistance to thyrotropin that has_material_basis_in variation in the chromosome region 15q25.3-q26.1.
https://www.ncbi.nlm.nih.gov/pubmed/15870119, https://www.ncbi.nlm.nih.gov/pubmed/8976668
Xrefs

ICD10CM:E03.1

OMIM:609893

Synonyms

CHNG3 [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a congenital hypothyroidism

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