ZFIN Human Disease: congenital nongoitrous hypothyroidism 2

OBO ID: DOID:0070124

Term Name:	congenital nongoitrous hypothyroidism 2		Search Ontology:
Synonyms:	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. https://www.ncbi.nlm.nih.gov/pubmed/9590296
References:	ICD10CM:E03.1 OMIM:218700
Ontology:	Human Disease (DOID:0070124)

Relationships

is a type of:	autosomal dominant disease congenital hypothyroidism autosomal dominant disease congenital hypothyroidism Show first 5 Terms

OTHER congenital nongoitrous hypothyroidism 2 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PAX8	pax8	Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia	218700

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None