eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| pulmonary blastoma | ||||
| Disease ID | 1667 |
|---|---|
| Disease | pulmonary blastoma |
| Definition | A malignant neoplasm of the lung composed chiefly or entirely of immature undifferentiated cells (i.e., blast forms) with little or virtually no stroma. (From Stedman, 25th ed) |
| Synonym | [m] pulmonary blastoma [m]pulmonary blastoma blastoma of lung blastoma of the lung blastoma pulm blastoma, pulmonary blastomas pulm blastomas, pulmonary lung blastoma pneumoblastoma pulm blastoma pulm blastomas pulmonary blastoma (disorder) pulmonary blastoma (morphologic abnormality) pulmonary blastoma [disease/finding] pulmonary blastomas |
| Orphanet | |
| DOID | |
| UMLS | C0206629 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:5) C0018552 | hamartoma | 2 C0027708 | nephroma | 2 C0936282 | blastoma | 1 C0027819 | neuroblastoma | 1 C0085292 | stiff person syndrome | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:22) 174 | AFP | 2.787 | DISEASES 4267 | CD99 | 1.317 | DISEASES 1499 | CTNNB1 | 2.447 | DISEASES 23405 | DICER1 | 6.803 | DISEASES 2254 | FGF9 | 1.993 | DISEASES 2271 | FH | 1.421 | DISEASES 2314 | FLII | 1.884 | DISEASES 3662 | IRF4 | 1.097 | DISEASES 1316 | KLF6 | 1.623 | DISEASES 116372 | LYPD1 | 2.694 | DISEASES 4151 | MB | 2.277 | DISEASES 4193 | MDM2 | 1.043 | DISEASES 219541 | MED19 | 2.384 | DISEASES 7080 | NKX2-1 | 2.881 | DISEASES 4916 | NTRK3 | 1.187 | DISEASES 6098 | ROS1 | 1.211 | DISEASES 6277 | S100A6 | 1.284 | DISEASES 23583 | SMUG1 | 1.209 | DISEASES 6654 | SOS1 | 1.315 | DISEASES 727837 | SSX2B | 1.387 | DISEASES 6996 | TDG | 2.128 | DISEASES 11076 | TPPP | 2.363 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1667 |
|---|---|
| Disease | pulmonary blastoma |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:9) HP:0002094 | Dyspnea HP:0100749 | Chest pain HP:0002113 | Pulmonary infiltrates HP:0100528 | Pleuropulmonary blastoma HP:0001824 | Weight loss HP:0001945 | Fever HP:0006532 | Recurrent pneumonia HP:0002105 | Hemoptysis HP:0012735 | Cough |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:5) HP:0030071 | Medulloepithelioma | 3 HP:0010566 | Hamartoma | 2 HP:0002664 | Neoplasia | 1 HP:0002176 | Spinal cord compression | 1 HP:0003006 | Neuroblastoma | 1 |
| Disease ID | 1667 |
|---|---|
| Disease | pulmonary blastoma |
| 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:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0006532 | Recurrent pneumonia | MP:0001862 | interstitial pneumonia | any of a group of inflammatory and fibrotic disorders of the lower respiratory tract, primarily affecting the supporting framework of the lung, including the alveolar wall, but may also involve the small airways and blood vessels of the lung parenchyma |
| HP:0001824 | Weight loss | MP:0005114 | premature hair loss | release of fur at an earlier than expected time |
Mapped by homologous gene(Total Items:9) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0012735 | Cough | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0001945 | Fever | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001824 | Weight loss | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002094 | Dyspnea | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0100528 | Pleuropulmonary blastoma | MP:0013293 | embryonic lethality prior to tooth bud stage | death prior to the appearance of tooth buds (Mus: E12-E12.5) |
| HP:0100749 | Chest pain | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002113 | Pulmonary infiltrates | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002105 | Hemoptysis | MP:0011098 | embryonic lethality during organogenesis, complete penetrance | death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14) |
| HP:0006532 | Recurrent pneumonia | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| Disease ID | 1667 |
|---|---|
| Disease | pulmonary blastoma |
| Case | (Waiting for update.) |