DISEASES

Disease-gene associations mined from literature

Human genes for isolated growth hormone deficiency type III

Isolated growth hormone deficiency type III [DOID:0060875]

An isolated growth hormone deficiency characterized by dwarfism, variable occurence of hypogammaglobulinemia, and a generally good response to growth hormone therapy that has material_basis_in mutation in the BTK gene on chromosome Xq22.1.

Synonyms:  isolated growth hormone deficiency type III,  DOID:0060875,  isolated growth hormone deficiency type IIIs,  Fleisher syndrome,  IGHD III ...