FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term combined or isolated pituitary growth hormone deficiency 7 ID (Ontology) DOID:0061016 (Human Disease)
Definition A combined pituitary hormone deficiency that has_material_basis_in compound heterozygous mutation in the RNPC3 gene on chromosome 1p21.
Also Known As "IGHD5" ; "Isolated growth hormone deficiency type V"
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 combined or isolated pituitary growth hormone deficiency 7       1
 for disease ribbon | combined or isolated pituitary growth hormone deficiency 7       1
 model of | combined or isolated pituitary growth hormone deficiency 7       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease____________
hypopituitarism                            |
 |__combined pituitary hormone deficiency__|
                                           combined or isolated pituitary growth hormone deficiency 7  1 rec.
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Is a autosomal recessive disease
combined pituitary hormone deficiency
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Synonyms
  • "IGHD5" EXACT OMO:0003012
    "Isolated growth hormone deficiency type V" EXACT
Secondary IDs
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MIM:618160