RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:
growth hormone insensitivity syndrome with immune dysregulation 1
A syndrome that is characterized by short stature due to insensitivity to growth hormone and that has_material_basis_in homozygous mutation in the STAT5B gene on chromosome 17q21. (DO)
Synonyms:
exact_synonym:
GHISID1; Laron syndrome due to postreceptor defect; Laron syndrome type 2; Laron type dwarfism 2; growth hormone insensitivity due to postreceptor defect; growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive; growth hormone insensitivity with immune dysregulation 1; growth hormone insensitivity with immune dysregulation 1, autosomal recessive; growth hormone insensitivity with immunodeficiency
ClinVar Annotator: match by OMIM:245590 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Growth hormone insensitivity with immunodeficiency ClinVar Annotator: match by term: Laron syndrome due to postreceptor defect ClinVar Annotator: match by term: Growth hormone insensitivity with immune dysregulation 1, autosomal recessive