Version: 8.0.0
Date: Tue Jan 28 2025
isolated growth hormone deficiency type IB
DOID:0060874
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

isolated growth hormone deficiency type IB

Definition
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
  • congenital IGHD type IB
  • congenital isolated GH deficiency type IB
Cross References
Parent Terms
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