Short stature due to partial GHR deficiency

Get in touch with RARE Concierge.

Contact RARE Concierge

Synonyms: Short stature due to partial growth hormone receptor deficiency

Short stature due to partial GHR deficiency is a rare genetic endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor) thus resulting in partial insensitivity to growth hormone.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2024

Newly diagnosed with
Short stature due to partial GHR deficiency?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Clinical Trials

For a list of clinical trials in this disease area, please click here.