OBO ID: DOID:0080836
Term Name: growth hormone insensitivity syndrome with immune dysregulation 1 Search Ontology:
Synonyms:
Definition: 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. https://pubmed.ncbi.nlm.nih.gov/16787985/
References:
Ontology: Human Disease   (DOID:0080836)
OTHER growth hormone insensitivity syndrome with immune dysregulation 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
STAT5A Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 245590
STAT5B Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 245590
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None