ZFIN Human Disease: growth hormone insensitivity syndrome with immune dysregulation 1

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:	GARD:3924 OMIM:245590 ORDO:220465
Ontology:	Human Disease ( DOID:0080836 )

Relationships

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

OTHER growth hormone insensitivity syndrome with immune dysregulation 1 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
STAT5A	stat5a stat5b	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	245590
STAT5B	stat5a stat5b	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	245590

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None