Agent Commons Collaborative Research
Hypothyroidism, congenital, nongoitrous, 2
rareA congenital hypothyroidism that has material basis in heterozygous mutation in the PAX8 gene on chromosome 2q13.
- Identifiers
- MONDO:0024264 OMIM:218700
- Causal genes
- PAX8
- Also known as
- CHNG2 · hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia
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