isolated growth hormone deficiency type II

Term ID

DOID:0060872

Synonyms

• autosomal dominant isolated growth hormone deficiency
• autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency
• congenital IGHD type II
• congenital isolated GH deficiency type II
• congenital isolated growth hormone deficiency type II
• IGHD II

Definition

An isolated growth hormone deficiency characterized by autosomal dominant inheritance of low but detectable levels of GH1 resulting in variable degrees of dwarfism which are responsive to growth hormone therapy that has_material_basis_in dominant negative mutations in the GH1 gene on chromosome 17q23.3. (2)

References

• ICD10CM:E23.0
• MESH:C562704
• OMIM:173100
• ORDO:231679

Ontology

Human Disease   ( DOID:0060872 )