Hypothyroidism, congenital, nongoitrous, 2

Definition

A congenital hypothyroidism that has material basis in heterozygous mutation in the PAX8 gene on chromosome 2q13.

Also known as CHNG2, hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, hypothyroidism, congenital, nongoitrous, 2 — per MONDO

Also identified as

• DOID 0070124 per MONDO
• MESH C566852 per MONDO
• OMIM 218700 per MONDO
• UMLS C1869118 per MONDO