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DO Term : growth hormone insensitivity syndrome with immune dysregulation 1 [DOID:0080836] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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.

synonyms:
OMIM:245590,
245590,
GARD:3924,
ORDO:220465

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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