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Summary Literature (0)
DOID:0060873 - isolated growth hormone deficiency type IA

Disease Ontology Definition:An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has_material_basis_in null mutations in the GH1 gene on chromosome 17q23.3.

Synonyms: IGHD IA, Illig-type growth hormone deficiency, autosomal recessive isolated growth hormone deficiency, pituitary dwarfism I, primordial dwarfism, sexual ateleiotic dwarfism,

Xenbase Genes : gh1, rnpc3

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009876 - isolated growth hormone deficiency type IA


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): isolated growth hormone deficiency (is_a)