eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| desmoplastic small round cell tumor | ||||
| Disease ID | 812 |
|---|---|
| Disease | desmoplastic small round cell tumor |
| Definition | A rare, aggressive soft tissue sarcoma that primarily affects adolescents and young adults. It is most commonly found in the abdomen. |
| Synonym | desmoplas. small round cell tumor desmoplastic small cell tumor desmoplastic small round cell tumor (morphologic abnormality) desmoplastic small round cell tumor [disease/finding] desmoplastic small round cell tumour desmoplastic small round-cell neoplasm desmoplastic small round-cell tumor desmoplastic small-cell tumor desmoplastic small-cell tumors dsrct polyphenotypic small round cell tumor small-cell tumor, desmoplastic small-cell tumors, desmoplastic tumor, desmoplastic small-cell tumors, desmoplastic small-cell |
| Orphanet | |
| DOID | |
| UMLS | C0281508 |
| MeSH | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:9) C1261473 | sarcoma | 2 C0149925 | small cell carcinoma | 1 C0020538 | hypertension | 1 C0155616 | secondary hypertension | 1 C0019829 | hodgkin lymphoma | 1 C0024299 | lymphoma | 1 C0034072 | cor pulmonale | 1 C0700251 | brachial plexopathy | 1 C0024305 | non-hodgkin lymphoma | 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:2) |
| Disease ID | 812 |
|---|---|
| Disease | desmoplastic small round cell tumor |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:18) HP:0002716 | Lymphadenopathy HP:0003270 | Abdominal distention HP:0004326 | Cachexia HP:0100526 | Neoplasm of the lung HP:0100006 | Neoplasm of the central nervous system HP:0002894 | Neoplasm of the pancreas HP:0100721 | Mediastinal lymphadenopathy HP:0100615 | Ovarian neoplasm HP:0010788 | Testicular neoplasm HP:0002027 | Abdominal pain HP:0100242 | Sarcoma HP:0002017 | Nausea and vomiting HP:0001824 | Weight loss HP:0002585 | Abnormality of the peritoneum HP:0002240 | Hepatomegaly HP:0001541 | Ascites HP:0002595 | Ileus HP:0001903 | Anemia |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:7) HP:0002664 | Neoplasia | 2 HP:0100242 | Sarcoma | 2 HP:0002665 | Lymphoma | 1 HP:0012189 | Hodgkin disease | 1 HP:0012539 | Non-Hodgkin lymphoma | 1 HP:0001648 | Cor pulmonale | 1 HP:0000822 | Hypertension | 1 |
| Disease ID | 812 |
|---|---|
| Disease | desmoplastic small round cell tumor |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0494165 | hepatic metastasis |
| 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:6) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002585 | Abnormality of the peritoneum | MP:0004500 | increased incidence of tumors by ionizing radiation induction | higher than normal frequency of tumor incidence induced by radiation in which the individual particle or photon carries sufficient energy to completely remove an electron from its orbit; common types of this radiation include gamma-rays and X-rays |
| HP:0100526 | Neoplasm of the lung | MP:0004500 | increased incidence of tumors by ionizing radiation induction | higher than normal frequency of tumor incidence induced by radiation in which the individual particle or photon carries sufficient energy to completely remove an electron from its orbit; common types of this radiation include gamma-rays and X-rays |
| HP:0100006 | Neoplasm of the central nervous system | MP:0005387 | immune system phenotype | |
| HP:0002017 | Nausea and vomiting | MP:0010426 | abnormal heart and great artery attachment | any anomaly in the in the position or pattern of the connection site of the heart to any of the great arteries, including the pulmonary artery and aorta |
| HP:0002894 | Neoplasm of the pancreas | MP:0008261 | arrest of male meiosis | cessation of the progression of the process of nuclear division that results in sperm with one half the normal chromosome number of the original cell |
| HP:0001824 | Weight loss | MP:0005114 | premature hair loss | release of fur at an earlier than expected time |
Mapped by homologous gene(Total Items:18) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001824 | Weight loss | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0100721 | Mediastinal lymphadenopathy | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0003270 | Abdominal distention | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0100615 | Ovarian neoplasm | MP:0014126 | increased mammary gland apoptosis | increase in the number of any cells of a mammary gland undergoing programmed cell death |
| HP:0002027 | Abdominal pain | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002585 | Abnormality of the peritoneum | MP:0014126 | increased mammary gland apoptosis | increase in the number of any cells of a mammary gland undergoing programmed cell death |
| HP:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002716 | Lymphadenopathy | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0010788 | Testicular neoplasm | MP:0013604 | abnormal adult Leydig cell differentiation | atypical formation of or inability to produce the second or adult population of Leydig cells (ALCs) between birth and puberty; ALCs arise in the interstitium of adult testes from unknown progenitor cells and become the major source of androgens that contr |
| HP:0001541 | Ascites | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002595 | Ileus | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0100242 | Sarcoma | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0100526 | Neoplasm of the lung | MP:0014179 | abnormal blood-retinal barrier function | anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci |
| HP:0004326 | Cachexia | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| HP:0100006 | Neoplasm of the central nervous system | MP:0014126 | increased mammary gland apoptosis | increase in the number of any cells of a mammary gland undergoing programmed cell death |
| HP:0001903 | Anemia | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0002017 | Nausea and vomiting | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002894 | Neoplasm of the pancreas | MP:0014126 | increased mammary gland apoptosis | increase in the number of any cells of a mammary gland undergoing programmed cell death |
| Disease ID | 812 |
|---|---|
| Disease | desmoplastic small round cell tumor |
| Case | (Waiting for update.) |