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 )

Relationships
is a type of: isolated growth hormone deficiency