| D007621 |
Karyotyping |
Mapping of the KARYOTYPE of a cell. |
Karyotype Analysis Methods,Analysis Method, Karyotype,Analysis Methods, Karyotype,Karyotype Analysis Method,Karyotypings,Method, Karyotype Analysis,Methods, Karyotype Analysis |
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| 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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| D008433 |
Mathematics |
The deductive study of shape, quantity, and dependence. (From McGraw-Hill Dictionary of Scientific and Technical Terms, 6th ed) |
Mathematic |
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| D009030 |
Mosaicism |
The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote. |
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| D011164 |
Porphyrias |
A diverse group of metabolic diseases characterized by errors in the biosynthetic pathway of HEME in the LIVER, the BONE MARROW, or both. They are classified by the deficiency of specific enzymes, the tissue site of enzyme defect, or the clinical features that include neurological (acute) or cutaneous (skin lesions). Porphyrias can be hereditary or acquired as a result of toxicity to the hepatic or erythropoietic marrow tissues. |
Porphyria,Porphyrin Disorder,Disorder, Porphyrin,Disorders, Porphyrin,Porphyrin Disorders |
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| D003582 |
Cytogenetics |
A subdiscipline of genetics which deals with the cytological and molecular analysis of the CHROMOSOMES, and location of the GENES on chromosomes, and the movements of chromosomes during the CELL CYCLE. |
Cytogenetic |
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| D005260 |
Female |
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Females |
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| D006333 |
Heart Failure |
A heterogeneous condition in which the heart is unable to pump out sufficient blood to meet the metabolic need of the body. Heart failure can be caused by structural defects, functional abnormalities (VENTRICULAR DYSFUNCTION), or a sudden overload beyond its capacity. Chronic heart failure is more common than acute heart failure which results from sudden insult to cardiac function, such as MYOCARDIAL INFARCTION. |
Cardiac Failure,Heart Decompensation,Congestive Heart Failure,Heart Failure, Congestive,Heart Failure, Left-Sided,Heart Failure, Right-Sided,Left-Sided Heart Failure,Myocardial Failure,Right-Sided Heart Failure,Decompensation, Heart,Heart Failure, Left Sided,Heart Failure, Right Sided,Left Sided Heart Failure,Right Sided Heart Failure |
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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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| D000310 |
Adrenal Gland Neoplasms |
Tumors or cancer of the ADRENAL GLANDS. |
Adrenal Cancer,Adrenal Gland Cancer,Adrenal Neoplasm,Cancer of the Adrenal Gland,Neoplasms, Adrenal Gland,Adrenal Cancers,Adrenal Gland Cancers,Adrenal Gland Neoplasm,Adrenal Neoplasms,Cancer, Adrenal,Cancer, Adrenal Gland,Cancers, Adrenal,Cancers, Adrenal Gland,Neoplasm, Adrenal,Neoplasm, Adrenal Gland,Neoplasms, Adrenal |
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