congenital nongoitrous hypothyroidism 4

Term ID

DOID:0070123

Synonyms

• CHNG4
• isolated thyrotropin deficiency

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

References

• ICD10CM:E03.1
• OMIM:275100

Ontology

Human Disease   ( DOID:0070123 )