ZFIN Human Disease: congenital nongoitrous hypothyroidism 8

OBO ID: DOID:0111837

Term Name:	congenital nongoitrous hypothyroidism 8		Search Ontology:
Synonyms:	CHNG8
Definition:	A congenital hypothyroidism characterized by relatively mild central hypothyroidism that has_material_basis_in heterozygous or hemizygous mutation in the TBL1X gene on chromosome Xp22.3-p22.2. https://www.ncbi.nlm.nih.gov/pubmed/27603907
References:	OMIM:301033
Ontology:	Human Disease ( DOID:0111837 )

Relationships

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

OTHER congenital nongoitrous hypothyroidism 8 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
TBL1X	tbl1x	Hypothyroidism, congenital, nongoitrous, 8	301033
TBL1Y	tbl1x	Hypothyroidism, congenital, nongoitrous, 8	301033

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None