isolated growth hormone deficiency type IB

Term ID

DOID:0060874

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. (3)

References

• ICD10CM:E23.0
• OMIM:612781
• OMIM:618157
• ORDO:231671

Ontology

Human Disease   ( DOID:0060874 )