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Metadata
ID DOID:1921
Name Klinefelter syndrome
Definition A chromosomal duplication syndrome that is characterized by infertility and that has_material_basis_in an extra X chromosome in cells in men.
https://ghr.nlm.nih.gov/condition/klinefelter-syndrome, https://www.genome.gov/Genetic-Disorders/Klinefelter-Syndrome
Xrefs

GARD:8705

ICD10CM:Q98.0

ICD9CM:758.7

MESH:D007713

NCI:C34752

SNOMEDCT_US_2023_03_01:405770005

UMLS_CUI:C0022735

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

47, XXY [EXACT]

Hypogonadotropic Hypogonadism [EXACT]

Klinefelter's syndrome [EXACT]

XXY syndrome [EXACT]

XXY trisomy [EXACT]

Parent Relationships

is_a chromosomal duplication syndrome

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