Disease

congenital nongoitrous hypothyroidism 2

Name: congenital nongoitrous hypothyroidism 2
Creator: Alliance of Genome Resources
License: CC BY 4.0
Keywords: disease DOID:0070124 congenital nongoitrous hypothyroidism 2 A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the PAX8 gene on chromosome 2q13. CHNG2 congenital hypothyroidism due to thyroid dysgenesis or hypoplasia

Definition

A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the PAX8 gene on chromosome 2q13.

Synonyms

CHNG2
congenital hypothyroidism due to thyroid dysgenesis or hypoplasia

Cross References

ICD10CM:E03.1
MIM:218700

Parent Terms

autosomal dominant disease
congenital hypothyroidism

Child Terms

None

Sources of Associations

RGD
MGI
ZFIN
FB
WB
SGD

Associated Genes

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Associated Alleles

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Associated Models

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