Version: 8.0.0
Date: Tue Jan 28 2025
isolated growth hormone deficiency type II
DOID:0060872
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

isolated growth hormone deficiency type 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.
Synonyms
  • autosomal dominant isolated growth hormone deficiency
  • autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency
Cross References
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