isolated growth hormone deficiency type IA
An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has material basis in null mutations in the GH1 gene on chromosome 17q23.3.
MONDO:0000050
isolated congenital growth hormone deficiency
is_a
Growth hormone deficiency, isolated autosomal recessive
related
IGHD1A
related
ILLIG type growth hormone deficiency
related
Illig-type growth hormone deficiency
exact
congenital IGHD
related
congenital IGHD type IA
exact
congenital isolated GH deficiency
related
congenital isolated GH deficiency type IA
exact
congenital isolated growth hormone deficiency
related
congenital isolated growth hormone deficiency type IA
exact
growth hormone deficiency, isolated, type IA
exact
isolated growth hormone deficiency type 1A
related
isolated growth hormone deficiency type IA
exact
isolated growth hormone deficiency, type IA
related
non-acquired isolated growth hormone deficiency
related
pituitary dwarfism 1
related
primordial dwarfism
exact
sexual ateleiotic dwarfism
exact