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Hypothyroidism Due To Tsh Receptor Mutations (MONDO:0010142)

Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH.

Overview

Category

endocrine system disorder

Ontology ID

MONDO:0010142

Internal:11325

Synonyms

CHNG1

TSH resistance

hypothyroidism, congenital, nongoitrous, type 1

congenital nongoitrous hypothyroidism 1

hypothyroidism due to unresponsiveness to thyrotropin

hypothyroidism, Nonautoimmune

hypothyroidism, congenital, due to TSH resistance

hypothyroidism, congenital, nongoitrous, 1

thyroid-stimulating hormone, resistance to

thyrotropin resistance

Mapped terms

DOID:0070126

GARD:0016793

MEDGEN:487729

OMIM:275200

Orphanet:90673

UMLS:C3493776

Child terms

Unknown children.

Results

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