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DO Term : isolated growth hormone deficiency type IB [DOID:0060874] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • ICD10CM:E23.0,
  • OMIM:618157,
  • 618157,
  • IGHD IB,
  • congenital IGHD type IB,
  • dwarfism of Sindh,
  • ORDO:231671,
  • congenital isolated GH deficiency type IB,
  • 612781,
  • OMIM:612781,
  • congenital isolated growth hormone deficiency type IB
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Disease

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Ontology

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Ontology Term --> Direct children

Ontology Term --> Direct parents