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Standards Ontologies Notations
isolated growth hormone deficiency type II

Summary
Synonym
  • IGHD II
  • 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
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.
Super Class
isolated growth hormone deficiency
External Links
Disease Ontology
DOID:0060872
Mondo Disease Ontology
MeSH
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 21 - 22 of 22 in total
Gene ID Gene Symbol Description Source
55512 SMPD3 sphingomyelin phosphodiesterase 3
148738 HJV hemojuvelin BMP co-receptor
Related Glycoprotein
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: August 19, 2024