C5190814_SNOMEDCT_US | Knowledge4COVID-19

Property	Value
?:definition	A rare genetic endocrine disease with characteristics of idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone. There is evidence the disease is caused by heterozygous mutation in the growth hormone receptor gene (GHR) on chromosome 5p13-p12.
?:hasCUIAnnotation	<https://research.tib.eu/covid-19/entity/C5190814>
?:hasGeneratedBy	<https://research.tib.eu/covid-19/SourceName/SNOMEDCT_US>
?:type	<https://research.tib.eu/covid-19/vocab/AnnotationDefinition>

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