ZFIN Human Disease: growth hormone insensitivity syndrome with immune dysregulation 2

OBO ID: DOID:0080837

Term Name:	growth hormone insensitivity syndrome with immune dysregulation 2		Search Ontology:
Synonyms:
Definition:	A syndrome that is characterized by short stature due to insensitivity to growth hormone and that has_material_basis_in heterozygous mutation in the STAT5B gene on chromosome 17q21. https://pubmed.ncbi.nlm.nih.gov/29844444/
References:	OMIM:618985
Ontology:	Human Disease ( DOID:0080837 )

Relationships

is a type of:	autosomal dominant disease syndrome autosomal dominant disease syndrome Show first 5 Terms

OTHER growth hormone insensitivity syndrome with immune dysregulation 2 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
STAT5A	stat5a stat5b	Growth hormone insensitivity with immune dysregulation 2, autosomal dominant	618985
STAT5B	stat5a stat5b	Growth hormone insensitivity with immune dysregulation 2, autosomal dominant	618985

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None