isolated growth hormone deficiency type IB
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.
MONDO:0000050
isolated congenital growth hormone deficiency
is_a
IGHD 1B
related
IGHD1B
related
congenital IGHD type IB
exact
congenital isolated GH deficiency type IB
exact
congenital isolated growth hormone deficiency type IB
exact
dwarfism of Sindh
exact
growth hormone deficiency, isolated, type IB
exact
isolated growth hormone deficiency type 1B
related
isolated growth hormone deficiency, type IB
related