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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,
Echinobase Genes :
MIM:262400 - isolated growth hormone deficiency, type ia; ighd1a |
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)