Term Name: | isolated growth hormone deficiency type IA |
---|---|
Synonyms: | autosomal recessive isolated growth hormone deficiency, IGHD IA, Illig-type growth hormone deficiency, pituitary dwarfism I, primordial dwarfism, sexual ateleiotic dwarfism |
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. |
Ontology: | Human Disease [DOID:0060873] ( DOID:0060873 ) |