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Metadata
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

ICD10CM:E03.1

MIM:614450

Synonyms

CHNG6 [EXACT]

Parent Relationships

is_a congenital hypothyroidism

is_a autosomal dominant disease

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

disease has basis in some Abnormality of prenatal development or birth

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