eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| 46,xx testicular disorder of sex development | ||||
| Disease ID | 1344 |
|---|---|
| Disease | 46,xx testicular disorder of sex development |
| Definition | Conditions of sexual ambiguity in which the individual possesses gonadal tissues of both sexes, tissues from the OVARY and the TESTIS. There can be a testis on one side and an ovary on the other (lateral), or there may be combined ovarian and testicular tissue (ovotestes) on each side (bilateral). The karyotype may be 46,XX; 46,XY; or a mosaic of 46,XX/46,XY. These disorders have historically been called true hermaphroditism. |
| Synonym | 46,xx gonadal dysgenesis, complete, sry-positive 46,xx sex reversal 1 46,xx sex reversal, sry-positive 46,xx true hermaphroditism, sry-positive dsd, ovotesticular dsds, ovotesticular ovotesticular disorder of sex development ovotesticular disorders of sex development ovotesticular disorders of sex development [disease/finding] ovotesticular dsd ovotesticular dsds srxx1 xx male syndrome, sry positive xx male syndrome, sry-positive xx male, sry-positive |
| Orphanet | |
| OMIM | |
| UMLS | C2748895 |
| MeSH | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:3) |
| Disease ID | 1344 |
|---|---|
| Disease | 46,xx testicular disorder of sex development |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:6) HP:0000026 | Male hypogonadism HP:0008734 | Decreased testicular size HP:0000147 | Polycystic ovaries HP:0012245 | Sex reversal HP:0000062 | Ambiguous genitalia HP:0010459 | True hermaphroditism |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1344 |
|---|---|
| Disease | 46,xx testicular disorder of sex development |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
|---|---|
| (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:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0008734 | Decreased testicular size | MP:0003205 | testicular atrophy | acquired diminution of the size of the testis associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal cha |
| HP:0012245 | Sex reversal | MP:0002995 | primary sex reversal | gonad type is not consistent with chromosomal sex |
| HP:0000062 | Ambiguous genitalia | MP:0009202 | small external male genitalia | reduced size of the external masculine genital organs |
Mapped by homologous gene(Total Items:6) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000147 | Polycystic ovaries | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0008734 | Decreased testicular size | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000026 | Male hypogonadism | MP:0013737 | small bulbourethral gland | reduced size of either of the small paired racemose (compound tubulo-alveolar) glands below the apex of the prostate in males, located posterolateral to the membranous portion of the urethra at the base of the penis, between the two layers of the fascia o |
| HP:0010459 | True hermaphroditism | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0012245 | Sex reversal | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0000062 | Ambiguous genitalia | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| Disease ID | 1344 |
|---|---|
| Disease | 46,xx testicular disorder of sex development |
| Case | (Waiting for update.) |