eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| swyer syndrome | ||||
| Disease ID | 1489 |
|---|---|
| Disease | swyer syndrome |
| Definition | 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. |
| Synonym | 46, xy gonadal dysgenesis 46, xy gonadal sex reversal 46,xy gonadal dysgenesis gonadal dysgenesis aaaa gonadal dysgenesis, 46, xy gonadal dysgenesis, 46,xy gonadal dysgenesis, 46,xy [disease/finding] gonadal dysgenesis, male sex reversal, gonadal, 46, xy swyers syndrome |
| Orphanet | |
| UMLS | C0018054 |
| MeSH | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:8) C1861922 | campomelic dysplasia | 1 C0013377 | dysgerminoma | 1 C0346185 | ovarian dysgerminoma | 1 C0017668 | focal segmental glomerulosclerosis | 1 C0036631 | seminoma | 1 C0035078 | renal failure | 1 C0018051 | gonadal dysgenesis | 1 C0206661 | gonadoblastoma | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:8) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1489 |
|---|---|
| Disease | swyer syndrome |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:8) |
| Disease ID | 1489 |
|---|---|
| Disease | swyer syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 1489 |
|---|---|
| Disease | swyer syndrome |
| Case | (Waiting for update.) |