Term Name: | isolated growth hormone deficiency type IB |
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Synonyms: | congenital IGHD type IB, congenital isolated GH deficiency type IB, congenital isolated growth hormone deficiency type IB, dwarfism of Sindh, IGHD IB |
Definition: | An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has_material_basis_in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively. |
Ontology: | Human Disease [DOID:0060874] ( DOID:0060874 ) |