PedAM
Pediatric Disease Annotations & Medicines
| testicular regression syndrome | ||||
| Disease ID | 1338 |
|---|---|
| Disease | testicular regression syndrome |
| Definition | A condition characterized by typical male genital appearance in a 46,XY individual in whom testes are unable to be located. |
| Synonym | anorchia, familial gonadal regression testicular regression testicular regression - embryonic testicular regression syndrome (disorder) testicular regression, embryonic trs vanishing testes vanishing testes syndrome vanishing testis xy gonadal agenesis syndrome xy gonadal dysgenesis syndrome |
| Orphanet | |
| OMIM | |
| UMLS | C0266427 |
| SNOMED-CT | |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1338 |
|---|---|
| Disease | testicular regression syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:13) HP:0000144 | Decreased fertility HP:0008734 | Decreased testicular size HP:0000008 | Abnormality of female internal genitalia HP:0000037 | Male pseudohermaphroditism HP:0000271 | Abnormality of the face HP:0010468 | Aplasia/Hypoplasia of the testes HP:0010469 | Aplasia of the testes HP:0012870 | Vanishing testis HP:0000812 | Abnormal internal genitalia HP:0008736 | Hypoplasia of penis HP:0008633 | Absent gonadal tissue HP:0000022 | Abnormality of male internal genitalia HP:0000062 | Ambiguous genitalia |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1338 |
|---|---|
| Disease | testicular regression syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining 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:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000062 | Ambiguous genitalia | MP:0009202 | small external male genitalia;HP:0000144 | Decreased fertility |
Mapped by homologous gene(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000062 | Ambiguous genitalia | MP:0013337 | abnormal adenohypophysis development;HP:0000022 | Abnormality of male internal genitalia |
Chemical(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |
FDA approved drug and dosage information(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |