FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Turner syndrome ID (Ontology) DOID:3491 (Human Disease)
Definition A gonadal dysgenesis that is characterized by short stature and early loss of ovarian function resulting from ovarian hypofunction or premature ovarian failure and has_material_basis_in one missing or structurally altered X chromosome.
Also Known As "Bonnevie-Ullrich syndrome" ; "Gonadal dysgenesis - Turner" ; "Karyotype 45, X" (for all, see Synonyms field below)
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DO.org
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Spanning Tree (Parents/Children)
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  disorder of sexual development
   |__gonadal dysgenesis
       |__Turner syndrome
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Is a gonadal dysgenesis
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Synonyms
  • "Bonnevie-Ullrich syndrome" EXACT
    "Gonadal dysgenesis - Turner" EXACT
    "Karyotype 45, X" EXACT
    "Monosomy X" EXACT
    "monosomy X syndrome" EXACT
    "XO syndrome" EXACT
Secondary IDs
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GARD:2540
GARD:7831
ICD10CM:Q96
MESH:D014424
NCI:C26900
NCI:C34434
SNOMEDCT_US_2023_03_01:38804009
UMLS_CUI:C0041408
UMLS_CUI:C1527168