FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
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Term isolated growth hormone deficiency type IA ID (Ontology) DOID:0060873 (Human Disease)
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.
Also Known As "autosomal recessive isolated growth hormone deficiency" ; "IGHD IA" ; "Illig-type growth hormone deficiency" (for all, see Synonyms field below)
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  hypopituitarism
   |__isolated growth hormone deficiency
       |__isolated growth hormone deficiency type IA
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Is a isolated growth hormone deficiency
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Synonyms
  • "autosomal recessive isolated growth hormone deficiency" EXACT
    "IGHD IA" EXACT OMO:0003012
    "Illig-type growth hormone deficiency" EXACT
    "pituitary dwarfism I" EXACT
    "primordial dwarfism" EXACT
    "sexual ateleiotic dwarfism" EXACT
Secondary IDs
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ICD10CM:E23.0
MIM:262400
ORDO:231662