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Metadata
ID DOID:0070123
Name congenital nongoitrous hypothyroidism 4
Definition A congenital hypothyroidism characterized by a permanent thyroid deficiency present at birth and resulting from deficiency in TSH synthesis that has_material_basis_in homozygous mutation in the TSHB gene on chromosome 1p13.
https://www.ncbi.nlm.nih.gov/pubmed/2792087
Xrefs

ICD10CM:E03.1

OMIM:275100

Synonyms

CHNG4 [EXACT]

isolated thyrotropin deficiency [EXACT]

Parent Relationships

is_a congenital hypothyroidism

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