OBO ID: DOID:0060875
Term Name: isolated growth hormone deficiency type III Search Ontology:
Synonyms:
  • congenital IGHD type III
  • congenital isolated GH deficiency type III
  • congenital isolated growth hormone deficiency type III
  • Fleisher syndrome
  • growth hormone deficiency with hypogammaglobulinemia
  • IGHD III
  • X-linked agammaglobulinemia and isolated growth hormone deficiency
  • X-linked hypogammaglobulinemia and isolated growth hormone deficiency
  • X-linked IGHD
  • X-linked isolated growth hormone deficiency
Definition: An isolated growth hormone deficiency characterized by dwarfism, variable occurence of hypogammaglobulinemia, and a generally good response to growth hormone therapy that has_material_basis_in mutation in the BTK gene on chromosome Xq22.1. (2)
References:
Ontology: Human Disease   ( DOID:0060875 )
Relationships
is a type of:
OTHER isolated growth hormone deficiency type III PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
BTK Isolated growth hormone deficiency, type III, with agammaglobulinemia 307200
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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