FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term isolated growth hormone deficiency type II ID (Ontology) DOID:0060872 (Human Disease)
Definition 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.
Also Known As "autosomal dominant isolated growth hormone deficiency" ; "autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency" ; "congenital IGHD type II" (for all, see Synonyms field below)
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  hypopituitarism
   |__isolated growth hormone deficiency
       |__isolated growth hormone deficiency type II
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Synonyms
  • "autosomal dominant isolated growth hormone deficiency" EXACT
    "autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency" EXACT
    "congenital IGHD type II" EXACT
    "congenital isolated GH deficiency type II" EXACT
    "congenital isolated growth hormone deficiency type II" EXACT
    "IGHD II" EXACT OMO:0003012
Secondary IDs
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ICD10CM:E23.0
MESH:C562704
MIM:173100
ORDO:231679