isolated growth hormone deficiency type III

Term ID

DOID:0060875

Synonyms

• congenital IGHD type III
• congenital isolated GH deficiency type III
• congenital isolated growth hormone deficiency type III
• Fleisher syndrome
• growth hormone deficiency with hypogammaglobulinemia
• IGHD III
• X-linked agammaglobulinemia and isolated growth hormone deficiency
• X-linked hypogammaglobulinemia and isolated growth hormone deficiency
• X-linked IGHD
• X-linked isolated growth hormone deficiency

Definition

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. (2)

References

• GARD:3921
• ICD10CM:E23.0
• OMIM:307200
• ORDO:231692

Ontology

Human Disease   ( DOID:0060875 )