Term Name: isolated growth hormone deficiency type IB
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 )

Relationships
is a type of: isolated growth hormone deficiency