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Metadata
ID DOID:0070126
Name congenital nongoitrous hypothyroidism 1
Definition A congenital hypothyroidism that has_material_basis_in mutation in the TSHR gene on chromosome 14q31.
https://www.ncbi.nlm.nih.gov/pubmed/8954020
Xrefs

ICD10CM:E03.1

OMIM:275200

Synonyms

CHNG1 [EXACT]

TSH resistance [EXACT]

Parent Relationships

is_a autosomal recessive disease

is_a congenital hypothyroidism

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