Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0060874 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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