| 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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| D010641 |
Phenotype |
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. |
Phenotypes |
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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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| 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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| D012730 |
Sex Chromosomes |
The homologous chromosomes that are dissimilar in the heterogametic sex. There are the X CHROMOSOME, the Y CHROMOSOME, and the W, Z chromosomes (in animals in which the female is the heterogametic sex (the silkworm moth Bombyx mori, for example)). In such cases the W chromosome is the female-determining and the male is ZZ. (From King & Stansfield, A Dictionary of Genetics, 4th ed) |
Gonosomes,Chromosome, Sex,Chromosomes, Sex,Gonosome,Sex Chromosome |
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| D013577 |
Syndrome |
A characteristic symptom complex. |
Symptom Cluster,Cluster, Symptom,Clusters, Symptom,Symptom Clusters,Syndromes |
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| D013734 |
Androgen-Insensitivity Syndrome |
A disorder of sexual development transmitted as an X-linked recessive trait. These patients have a karyotype of 46,XY with end-organ resistance to androgen due to mutations in the androgen receptor (RECEPTORS, ANDROGEN) gene. Severity of the defect in receptor quantity or quality correlates with their phenotypes. In these genetic males, the phenotypic spectrum ranges from those with normal female external genitalia, through those with genital ambiguity as in Reifenstein Syndrome, to that of a normal male with INFERTILITY. |
Testicular Feminization,AR Deficiency,Androgen Insensitivity Syndrome,Androgen Insensitivity, Partial,Androgen Receptor Deficiency,Androgen Resistance Syndrome,Androgen-Insensitivity Syndrome, Complete,Androgen-Insensitivity Syndrome, Partial,DHTR Deficiency,Dihydrotestosterone Receptor Deficiency,Male Pseudohermaphroditism Due to Androgen Insensitivity,Reifenstein Syndrome,Reifenstein's Syndrome,Testicular Feminization Syndrome,AR Deficiencies,Androgen Insensitivities, Partial,Androgen Insensitivity Syndrome, Complete,Androgen Insensitivity Syndrome, Partial,Androgen Insensitivity Syndromes,Androgen Receptor Deficiencies,Androgen Resistance Syndromes,Androgen-Insensitivity Syndromes,Androgen-Insensitivity Syndromes, Complete,Androgen-Insensitivity Syndromes, Partial,Complete Androgen-Insensitivity Syndrome,Complete Androgen-Insensitivity Syndromes,DHTR Deficiencies,Deficiencies, AR,Deficiencies, Androgen Receptor,Deficiencies, DHTR,Deficiencies, Dihydrotestosterone Receptor,Deficiency, AR,Deficiency, Androgen Receptor,Deficiency, DHTR,Deficiency, Dihydrotestosterone Receptor,Dihydrotestosterone Receptor Deficiencies,Feminization Syndrome, Testicular,Feminization Syndromes, Testicular,Feminization, Testicular,Feminizations, Testicular,Insensitivities, Partial Androgen,Insensitivity Syndrome, Androgen,Insensitivity Syndromes, Androgen,Insensitivity, Partial Androgen,Partial Androgen Insensitivities,Partial Androgen Insensitivity,Partial Androgen-Insensitivity Syndrome,Partial Androgen-Insensitivity Syndromes,Receptor Deficiencies, Androgen,Receptor Deficiencies, Dihydrotestosterone,Receptor Deficiency, Androgen,Receptor Deficiency, Dihydrotestosterone,Reifensteins Syndrome,Resistance Syndrome, Androgen,Resistance Syndromes, Androgen,Testicular Feminization Syndromes,Testicular Feminizations |
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