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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,
Xenbase Genes : gh1, pou1f1
MONDO:0008250 - isolated growth hormone deficiency type II |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
isolated growth hormone deficiency (is_a)