| D005260 |
Female |
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Females |
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| D005786 |
Gene Expression Regulation |
Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control (induction or repression) of gene action at the level of transcription or translation. |
Gene Action Regulation,Regulation of Gene Expression,Expression Regulation, Gene,Regulation, Gene Action,Regulation, Gene Expression |
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| D006061 |
Gonadal Dysgenesis, 46,XY |
Defects in the SEX DETERMINATION PROCESS in 46, XY individuals that result in abnormal gonadal development and deficiencies in TESTOSTERONE and subsequently ANTIMULLERIAN HORMONE or other factors required for normal male sex development. This leads to the development of female phenotypes (male to female sex reversal), normal to tall stature, and bilateral streak or dysgenic gonads which are susceptible to GONADAL TISSUE NEOPLASMS. An XY gonadal dysgenesis is associated with structural abnormalities on the Y CHROMOSOME, a mutation in the GENE, SRY, or a mutation in other autosomal genes that are involved in sex determination. |
Swyer Syndrome,46, XY Gonadal Dysgenesis,46, XY Gonadal Sex Reversal,46,XY Complete Gonadal Dysgenesis,Complete Gonadal Dysgenesis, 46, XY,Gonadal Dysgenesis, 46, XY,Pure Gonadal Dysgenesis 46,XY,Pure Gonadal Dysgenesis, 46, XY,Sex Reversal, Gonadal, 46, XY,XY Pure Gonadal Dysgenesis,Syndrome, Swyer |
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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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| D016133 |
Polymerase Chain Reaction |
In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships. |
Anchored PCR,Inverse PCR,Nested PCR,PCR,Anchored Polymerase Chain Reaction,Inverse Polymerase Chain Reaction,Nested Polymerase Chain Reaction,PCR, Anchored,PCR, Inverse,PCR, Nested,Polymerase Chain Reactions,Reaction, Polymerase Chain,Reactions, Polymerase Chain |
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| D017353 |
Gene Deletion |
A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus. |
Deletion, Gene,Deletions, Gene,Gene Deletions |
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| D055036 |
Campomelic Dysplasia |
A congenital disorder of CHONDROGENESIS and OSTEOGENESIS characterized by hypoplasia of endochondral bones. In most cases there is a curvature of the long bones especially the TIBIA with dimpling of the skin over the bowed areas, malformation of the pelvis and spine, 11 pairs of ribs, hypoplastic scapulae, club feet, micrognathia, CLEFT PALATE, tracheobronchomalacia, and in some patients male-to-female sex reversal (SEX REVERSAL, GONADAL). Most patients die in the neonatal period of respiratory distress. Campomelic dysplasia is associated with haploinsufficiency of the SOX9 TRANSCRIPTION FACTOR gene. |
Acampomelic Campomelic Dysplasia,Campomelic Dwarfism,Campomelic Syndrome,Camptomelic Dysplasia,Cmpd1 Sra1,Acampomelic Campomelic Dysplasias,Campomelic Dwarfisms,Campomelic Dysplasia, Acampomelic,Campomelic Dysplasias,Campomelic Dysplasias, Acampomelic,Campomelic Syndromes,Camptomelic Dysplasias,Cmpd1 Sra1s,Dwarfism, Campomelic,Dwarfisms, Campomelic,Dysplasia, Acampomelic Campomelic,Dysplasia, Campomelic,Dysplasia, Camptomelic,Dysplasias, Acampomelic Campomelic,Dysplasias, Campomelic,Dysplasias, Camptomelic,Sra1, Cmpd1,Sra1s, Cmpd1,Syndrome, Campomelic,Syndromes, Campomelic |
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| D055758 |
SOX9 Transcription Factor |
A SOXE transcription factor that plays a critical role in regulating CHONDROGENESIS; OSTEOGENESIS; and male sex determination. Loss of function of the SOX9 transcription factor due to genetic mutations is a cause of CAMPOMELIC DYSPLASIA. |
SOX-9 Transcription Factor,SOX 9 Transcription Factor,Transcription Factor, SOX-9,Transcription Factor, SOX9 |
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| D055815 |
Young Adult |
A person between 19 and 24 years of age. |
Adult, Young,Adults, Young,Young Adults |
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| D018238 |
Gonadoblastoma |
A complex neoplasm composed of a mixture of gonadal elements, such as large primordial GERM CELLS, immature SERTOLI CELLS or GRANULOSA CELLS of the sex cord, and gonadal stromal cells. Gonadoblastomas are most often associated with gonadal dysgenesis, 46, XY. |
Gonadoblastomas |
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