| D007713 |
Klinefelter Syndrome |
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.). |
48,XXYY Syndrome,49,XXXXY Syndrome,Klinefelter Syndrome, Variants,Klinefelter's Syndrome,XXXY Males,XXY Syndrome,XXY Trisomy,Xxyy Syndrome,Klinefelter Syndromes,Klinefelter Syndromes, Variants,Klinefelters Syndrome,Syndrome, Klinefelter,Syndrome, Klinefelter's,Syndrome, Variants Klinefelter,Syndrome, XXY,Syndrome, Xxyy,Syndromes, Klinefelter,Syndromes, Variants Klinefelter,Syndromes, XXY,Syndromes, Xxyy,Trisomies, XXY,Trisomy, XXY,XXXY Male,XXY Syndromes,XXY Trisomies,Xxyy Syndromes |
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| D008297 |
Male |
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Males |
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| D002869 |
Chromosome Aberrations |
Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS. |
Autosome Abnormalities,Cytogenetic Aberrations,Abnormalities, Autosome,Abnormalities, Chromosomal,Abnormalities, Chromosome,Chromosomal Aberrations,Chromosome Abnormalities,Cytogenetic Abnormalities,Aberration, Chromosomal,Aberration, Chromosome,Aberration, Cytogenetic,Aberrations, Chromosomal,Aberrations, Chromosome,Aberrations, Cytogenetic,Abnormalities, Cytogenetic,Abnormality, Autosome,Abnormality, Chromosomal,Abnormality, Chromosome,Abnormality, Cytogenetic,Autosome Abnormality,Chromosomal Aberration,Chromosomal Abnormalities,Chromosomal Abnormality,Chromosome Aberration,Chromosome Abnormality,Cytogenetic Aberration,Cytogenetic Abnormality |
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| D004200 |
Diseases in Twins |
Disorders affecting TWINS, one or both, at any age. |
Diseases in Twin,Twin, Diseases in,Twins, Diseases in,in Twin, Diseases,in Twins, Diseases |
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| D004314 |
Down Syndrome |
A chromosome disorder associated either with an extra CHROMOSOME 21 or an effective TRISOMY for chromosome 21. Clinical manifestations include HYPOTONIA, short stature, BRACHYCEPHALY, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, single transverse palmar crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213) |
Mongolism,Trisomy 21,47,XX,+21,47,XY,+21,Down Syndrome, Partial Trisomy 21,Down's Syndrome,Partial Trisomy 21 Down Syndrome,Trisomy 21, Meiotic Nondisjunction,Trisomy 21, Mitotic Nondisjunction,Trisomy G,Downs Syndrome,Syndrome, Down,Syndrome, Down's |
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| D005260 |
Female |
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Females |
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| D006801 |
Humans |
Members of the species Homo sapiens. |
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man |
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| D000987 |
Antisocial Personality Disorder |
A personality disorder whose essential feature is a pervasive pattern of disregard for, and violation of, the rights of others that begins in childhood or early adolescence and continues into adulthood. The individual must be at least age 18 and must have a history of some symptoms of CONDUCT DISORDER before age 15. (From DSM-IV, 1994). |
Antisocial Behavior,Deviant Behavior,Dyssocial Behavior,Personality Disorder, Antisocial,Psychopathic Personality,Sociopathic Personality,Antisocial Personality,Antisocial Behaviors,Antisocial Personalities,Antisocial Personality Disorders,Behavior, Antisocial,Behavior, Deviant,Behavior, Dyssocial,Behaviors, Antisocial,Behaviors, Deviant,Behaviors, Dyssocial,Deviant Behaviors,Disorder, Antisocial Personality,Disorders, Antisocial Personality,Dyssocial Behaviors,Personalities, Antisocial,Personalities, Psychopathic,Personalities, Sociopathic,Personality Disorders, Antisocial,Personality, Antisocial,Personality, Psychopathic,Personality, Sociopathic,Psychopathic Personalities,Sociopathic Personalities |
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| D014189 |
Transsexualism |
Expression of a GENDER IDENTITY inconsistent with, or not culturally-associated with the gender assigned to an individual at birth, combined with the desire to permanently transition to the gender with which they identify. |
Gender Fluidity,Transexualism,Transgenderism,Fluidity, Gender,Gender Fluidities,Transexualisms |
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| D014424 |
Turner Syndrome |
A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant. |
Bonnevie-Ullrich Syndrome,Gonadal Dysgenesis, 45,X,Gonadal Dysgenesis, XO,Monosomy X,Status Bonnevie-Ullrich,Turner's Syndrome,Ullrich-Turner Syndrome,Bonnevie Ullrich Syndrome,Status Bonnevie Ullrich,Syndrome, Ullrich-Turner,Turners Syndrome,Ullrich Turner Syndrome,XO Gonadal Dysgenesis |
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