Human genes for isolated growth hormone deficiency type IB
Isolated growth hormone deficiency type IB [DOID:0060874]
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: isolated growth hormone deficiency type IB, DOID:0060874, isolated growth hormone deficiency type IBs, congenital IGHD type IB, congenital isolated GH deficiency type IB ...