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DO Term : isolated growth hormone deficiency type II [DOID:0060872] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An isolated growth hormone deficiency characterized by autosomal dominant inheritance of low but detectable levels of GH1 resulting in variable degrees of dwarfism which are responsive to growth hormone therapy that has_material_basis_in dominant negative mutations in the GH1 gene on chromosome 17q23.3.
  • synonyms:
  • autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency,
  • autosomal dominant isolated growth hormone deficiency,
  • congenital isolated growth hormone deficiency type II,
  • 173100,
  • ORDO:231679,
  • OMIM:173100,
  • congenital IGHD type II,
  • ICD10CM:E23.0,
  • congenital isolated GH deficiency type II,
  • IGHD II,
  • MESH:C562704
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Disease

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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents