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RGD uses the Human Disease Ontology (DO, for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Klinefelter syndrome
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Accession:DOID:1921 term browser browse the term
Definition:A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.).
Synonyms:exact_synonym: 47, XXY;   48,XXYY syndrome;   49,XXXXY Syndrome;   Hypogonadotropic Hypogonadism;   Klinefelter Syndrome, Variants;   Klinefelter Syndromes;   Klinefelter Syndromes, Variants;   Klinefelter's syndrome;   Klinefelters syndrome;   XXXY Male;   XXXY Males;   XXY Syndrome;   XXY Syndromes;   XXY Trisomies;   XXY Trisomy;   XXYY syndrome;   XXYY syndromes
 primary_id: MESH:D007713
 xref: GARD:8705;   ICD10CM:Q98.0;   ICD9CM:758.7;   NCI:C34752
For additional species annotation, visit the Alliance of Genome Resources.

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Klinefelter syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr  X:152,115,699...152,131,608
Ensembl chr  X:152,115,819...152,131,603
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G Sema3f semaphorin 3F ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr 8:108,357,629...108,387,083
Ensembl chr 8:108,357,629...108,387,083
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17286
    syndrome 8170
      Klinefelter syndrome 2
Path 2
Term Annotations click to browse term
  disease 17286
    Developmental Disease 10988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9531
        Congenital Abnormalities 5606
          Urogenital Abnormalities 342
            disorder of sexual development 180
              Sex Chromosome Disorders of Sex Development 10
                Klinefelter syndrome 2
paths to the root