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Metadata
ID DOID:0111836
Name congenital nongoitrous hypothyroidism 7
Definition A congenital hypothyroidism characterized by normal-to-low T4 and normal-to-high thyrotropin levels, with reduced or absent pituitary responsiveness to thyrotropin-releasing hormone that has_material_basis_in homozygous or compound heterozygous mutation in TRHR on chromosome 8q23.1.
https://www.ncbi.nlm.nih.gov/pubmed/9141550
Xrefs

OMIM:618573

ORDO:99832

Synonyms

central hypothyroidism due to TRH receptor deficiency [EXACT]

CHNG7 [EXACT]

resistance to thyrotropin-releasing hormone syndrome [EXACT]

TRH resistance syndrome [EXACT]

Parent Relationships

is_a autosomal recessive disease

is_a congenital hypothyroidism

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