Summary Literature (0)

DOID:0060872 - isolated growth hormone deficiency type II

Disease Ontology Definition:An isolated growth hormone deficiency characterized by autosomal dominant inheritance of low but detectable levels of GH1 resulting in variable degrees of dwarfism which are responsive to growth hormone therapy that has material_basis_in dominant negative mutations in the GH1 gene on chromosome 17q23.3.

Synonyms: IGHD II, autosomal dominant isolated growth hormone deficiency, autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency, congenital IGHD type II, congenital isolated GH deficiency type II, congenital isolated growth hormone deficiency type II,

Echinobase Genes :


OMIM:

MIM:173100 - isolated growth hormone deficiency, type ii; ighd2

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee