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DO Term : isolated growth hormone deficiency type IA [DOID:0060873] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has_material_basis_in null mutations in the GH1 gene on chromosome 17q23.3.
  • synonyms:
  • 262400,
  • ORDO:231662,
  • pituitary dwarfism I,
  • ICD10CM:E23.0,
  • autosomal recessive isolated growth hormone deficiency,
  • primordial dwarfism,
  • IGHD IA,
  • sexual ateleiotic dwarfism,
  • Illig-type growth hormone deficiency,
  • OMIM:262400
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Ontology

Ontology Term --> All ancestors

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Ontology Term --> Direct children

Ontology Term --> Direct parents