|
DOID:0060874 - isolated growth hormone deficiency type IB
Disease Ontology Definition:An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has_material_basis_in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively.
Synonyms: IGHD IB, congenital IGHD type IB, congenital isolated GH deficiency type IB, congenital isolated growth hormone deficiency type IB, dwarfism of Sindh,
Echinobase Genes
:
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)