|Name||isolated growth hormone deficiency type IB|
|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.
https://www.ncbi.nlm.nih.gov/pubmed/10678654, https://www.ncbi.nlm.nih.gov/pubmed/8288694, https://www.ncbi.nlm.nih.gov/pubmed/8528260
congenital IGHD type IB [EXACT]
congenital isolated GH deficiency type IB [EXACT]
congenital isolated growth hormone deficiency type IB [EXACT]
dwarfism of Sindh [EXACT]
IGHD IB [EXACT]