DISEASES

Disease-gene associations mined from literature

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,  IGHD IB,  congenital IGHD type IB ...