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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Hypogonadism (D007006)
Parent Node: Sex Chromosome Disorders of Sex Development (D058533)
..Starting node ..Klinefelter Syndrome (D007713)
Child Nodes:
Sister Nodes:
..Freemartinism (D005611)
..Gonadal Dysgenesis, Mixed (D006060)
..Klinefelter Syndrome (D007713)
..Male sterility due to Y-chromosome deletions (C536297)
..Triple X syndrome (C535318)
..Turner Syndrome (D014424) 2
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	6111
Name:	Klinefelter Syndrome
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.).
Alternative IDs:
ParentIDs:	MESH:D007006\|MESH:D058533
TreeNumbers:	C12.706.316.795.500 \|C13.351.875.253.795.500 \|C16.131.260.830.835.500 \|C16.131.939.316.795.500 \|C16.320.180.830.835.500 \|C19.391.119.795.500 \|C19.391.482.629
Synonyms:	48,XXYY Syndrome \|49,XXXXY Syndrome \|Klinefelter's Syndrome \|Klinefelters Syndrome \|Klinefelter Syndromes \|Klinefelter Syndromes, Variants \|Klinefelter Syndrome, Variants \|Syndrome, 48,XXYY \|Syndrome, Klinefelter \|Syndrome, Klinefelter's \|Syndromes, 49,XXXXY \|Syndr
Slim Mappings:	Congenital abnormality\|Endocrine system disease\|Genetic disease (inborn)\|Urogenital disease (female)\|Urogenital disease (male)
Reference:	MedGen: D007713 MeSH: D007713 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants