Search Ontology:
Human Disease

isolated growth hormone deficiency type IA

Term ID
DOID:0060873
Synonyms
  • autosomal recessive isolated growth hormone deficiency
  • IGHD IA
  • Illig-type growth hormone deficiency
  • pituitary dwarfism I
  • primordial dwarfism
  • sexual ateleiotic dwarfism
Definition
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. (2)
References
Ontology
Human Disease   ( DOID:0060873 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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