eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| placental site trophoblastic tumor | ||||
| Disease ID | 513 |
|---|---|
| Disease | placental site trophoblastic tumor |
| Definition | An uncommon variant of CHORIOCARCINOMA. It is composed almost entirely of mononuclear cytotrophoblasts (TROPHOBLASTS). Because its secretion of hCG (CHORIONIC GONADOTROPIN) is low, a large tumor may develop before the hCG can be detected. |
| Synonym | [m] placental site trophoblastic tumor [m] placental site trophoblastic tumour [m]placental site trophoblastic tumor [m]placental site trophoblastic tumour gestational trophoblastic tumor, placental site gestational trophoblastic tumor, placental-site gtt, placental site gtt, placental-site placental site gestational trophoblastic tumor placental site gtt placental site trophoblastic tumor (disorder) placental site trophoblastic tumor (morphologic abnormality) placental site trophoblastic tumour placental trophoblastic tumor placental trophoblastic tumors placental-site gestational trophoblastic neoplasm placental-site gestational trophoblastic tumor placental-site gtt placental-site trophoblastic tumor placental-site trophoblastic tumors trophoblastic tumor, placental trophoblastic tumor, placental site trophoblastic tumor, placental site [disease/finding] trophoblastic tumor, placental-site trophoblastic tumors, placental trophoblastic tumors, placental-site tumor, placental trophoblastic tumor, placental-site trophoblastic tumors, placental trophoblastic tumors, placental-site trophoblastic |
| Orphanet | |
| DOID | |
| UMLS | C0206666 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:6) C0011649 | mature cystic teratoma | 1 C0024143 | lupus nephritis | 1 C0153676 | lung metastases | 1 C0027697 | nephritis | 1 C1368903 | cystic teratoma | 1 C0039538 | teratoma | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:23) 340273 | ABCB5 | 2.091 | DISEASES 103 | ADAR | 2.124 | DISEASES 174 | AFP | 1.214 | DISEASES 430 | ASCL2 | 2.651 | DISEASES 578 | BAK1 | 1.977 | DISEASES 4345 | CD200 | 1.628 | DISEASES 23607 | CD2AP | 1.125 | DISEASES 1028 | CDKN1C | 1.245 | DISEASES 1029 | CDKN2A | 1.581 | DISEASES 1443 | CSH2 | 6.51 | DISEASES 2066 | ERBB4 | 1.081 | DISEASES 2159 | F10 | 1.358 | DISEASES 2274 | FHL2 | 1.578 | DISEASES 2719 | GPC3 | 1.124 | DISEASES 3135 | HLA-G | 3.294 | DISEASES 3875 | KRT18 | 3.021 | DISEASES 3855 | KRT7 | 1.348 | DISEASES 4585 | MUC4 | 1.362 | DISEASES 190 | NR0B1 | 3.298 | DISEASES 10298 | PAK4 | 2.153 | DISEASES 3921 | RPSA | 1.144 | DISEASES 5268 | SERPINB5 | 1.229 | DISEASES 51341 | ZBTB7A | 2.293 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 513 |
|---|---|
| Disease | placental site trophoblastic tumor |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:4) HP:0005268 | Spontaneous abortion HP:0011434 | Low maternal serum chorionic gonadotropin HP:0000141 | Amenorrhea HP:0100608 | Metrorrhagia |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
| Disease ID | 513 |
|---|---|
| Disease | placental site trophoblastic tumor |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
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:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000141 | Amenorrhea | MP:0013395 | eyelid hypoplasia | underdevelopment or reduced size of the skin folds covering the front of the eyeball, usually due to a decreased cell number |
| HP:0005268 | Spontaneous abortion | MP:0020040 | decreased bone ossification | decrease in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| Disease ID | 513 |
|---|---|
| Disease | placental site trophoblastic tumor |
| Case | (Waiting for update.) |