eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| rhabdoid tumor | ||||
| Disease ID | 1053 |
|---|---|
| Disease | rhabdoid tumor |
| Definition | A rare but highly lethal childhood tumor found almost exclusively in infants. Histopathologically, it resembles RHABDOMYOSARCOMA but the tumor cells are not of myogenic origin. Although it arises primarily in the kidney, it may be found in other parts of the body. The rhabdoid cytomorphology is believed to be the expression of a very primitive malignant cell. (From Holland et al., Cancer Medicine, 3d ed, p2210) |
| Synonym | [m] rhabdoid sarcoma [m]rhabdoid sarcoma malignant rhabdoid tumor malignant rhabdoid tumor (morphologic abnormality) malignant rhabdoid tumour rdt rhabdoid sarcoma rhabdoid sarcoma (disorder) rhabdoid tumor [disease/finding] rhabdoid tumors rhabdoid tumors, malignant rhabdoid tumour sarcoma rhabdoid tumor, rhabdoid tumors, rhabdoid |
| Orphanet | |
| DOID | |
| UMLS | C0206743 |
| MeSH | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:11) C0206716 | ganglioglioma | 2 C0027962 | melanocytic nevi | 1 C0280793 | oligoastrocytoma | 1 C0205944 | epithelioid sarcoma | 1 C1261473 | sarcomas | 1 C0015464 | facial nerve palsy | 1 C0012236 | 22q11.2 deletion syndrome | 1 C0037315 | sleep apnoea | 1 C0494165 | liver metastases | 1 C1261473 | sarcoma | 1 C0153676 | lung metastasis | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1053 |
|---|---|
| Disease | rhabdoid tumor |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:24) HP:0002896 | Neoplasm of the liver HP:0100021 | Cerebral palsy HP:0002027 | Abdominal pain HP:0001482 | Subcutaneous nodule HP:0001824 | Weight loss HP:0002716 | Lymphadenopathy HP:0001873 | Thrombocytopenia HP:0000822 | Hypertension HP:0002017 | Nausea and vomiting HP:0011029 | Internal hemorrhage HP:0000790 | Hematuria HP:0001903 | Anemia HP:0012246 | Oculomotor nerve palsy HP:0002093 | Respiratory insufficiency HP:0002301 | Hemiplegia HP:0100242 | Sarcoma HP:0001945 | Fever HP:0009726 | Renal neoplasm HP:0003072 | Hypercalcemia HP:0004396 | Poor appetite HP:0000737 | Irritability HP:0006824 | Cranial nerve paralysis HP:0100006 | Neoplasm of the central nervous system HP:0002315 | Headache |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:8) HP:0002664 | Neoplasia | 4 HP:0010628 | Facial palsy, unilateral or bilateral | 1 HP:0009733 | Glioma | 1 HP:0002104 | Absence of spontaneous respiration | 1 HP:0000995 | Beauty mark | 1 HP:0030731 | Carcinoma | 1 HP:0100242 | Sarcoma | 1 HP:0010535 | Sleep apnea | 1 |
| Disease ID | 1053 |
|---|---|
| Disease | rhabdoid tumor |
| 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:4) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| 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:0006824 | Cranial nerve paralysis | MP:0006303 | abnormal retinal nerve fiber layer morphology | any structural anomaly of the layer of the retina formed by expansion of the fibers of the optic nerve |
| HP:0001824 | Weight loss | MP:0005114 | premature hair loss | release of fur at an earlier than expected time |
Mapped by homologous gene(Total Items:22) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0004396 | Poor appetite | MP:0013467 | diaphragmitis | inflammation of the diaphragm |
| HP:0001945 | Fever | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002315 | Headache | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001482 | Subcutaneous nodule | MP:0013542 | abnormal submandibular gland branching morphogenesis | |
| 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:0012246 | Oculomotor nerve palsy | MP:0011967 | increased or absent threshold for auditory brainstem response | increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency o |
| HP:0002093 | Respiratory insufficiency | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002301 | Hemiplegia | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0003072 | Hypercalcemia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0009726 | Renal neoplasm | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0001873 | Thrombocytopenia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002017 | Nausea and vomiting | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000790 | Hematuria | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000737 | Irritability | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001824 | Weight loss | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002027 | Abdominal pain | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0100242 | Sarcoma | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0100021 | Cerebral palsy | MP:0013026 | decreased Ly6C low monocyte number | decrease in the number of monocytes that express low levels of Ly6C and low MHC class II that represent a subset of patrolling monocytes |
| HP:0002716 | Lymphadenopathy | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| 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:0000822 | Hypertension | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0006824 | Cranial nerve paralysis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 1053 |
|---|---|
| Disease | rhabdoid tumor |
| Case | (Waiting for update.) |