|  Help  |  About  |  Contact Us

DO Term : congenital nongoitrous hypothyroidism 4 [DOID:0070123] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A congenital hypothyroidism characterized by a permanent thyroid deficiency present at birth and resulting from deficiency in TSH synthesis that has_material_basis_in homozygous mutation in the TSHB gene on chromosome 1p13.
  • synonyms:
  • CHNG4,
  • OMIM:275100,
  • ICD10CM:E03.1,
  • isolated thyrotropin deficiency,
  • 275100
Quick Links:
 
Quick Links:
 

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents