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Metadata
ID DOID:0070124
Name congenital nongoitrous hypothyroidism 2
Definition A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the PAX8 gene on chromosome 2q13.
https://www.ncbi.nlm.nih.gov/pubmed/9590296
Xrefs

ICD10CM:E03.1

OMIM:218700

Synonyms

CHNG2 [EXACT]

congenital hypothyroidism due to thyroid dysgenesis or hypoplasia [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a congenital hypothyroidism

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