eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| gonadoblastoma | ||||
| Disease ID | 1289 |
|---|---|
| Disease | gonadoblastoma |
| Definition | A complex neoplasm composed of a mixture of gonadal elements, such as large primordial GERM CELLS, immature SERTOLI CELLS or GRANULOSA CELLS of the sex cord, and gonadal stromal cells. Gonadoblastomas are most often associated with gonadal dysgenesis, 46, XY. |
| Synonym | gby gby - gonadoblastoma gonadoblastoma (morphologic abnormality) gonadoblastoma [disease/finding] gonadoblastomas gonocytoma |
| OMIM | |
| DOID | |
| UMLS | C0206661 |
| MeSH | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:9) C0013377 | dysgerminoma | 12 C0041408 | turner syndrome | 3 C0018051 | gonadal dysgenesis | 3 C0034013 | precocious puberty | 1 C1140680 | ovarian ca | 1 C0028326 | ullrich-turner syndrome | 1 C0950122 | frasier syndrome | 1 C0014145 | yolk sac tumor | 1 C0022735 | klinefelter syndrome | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:46) 174 | AFP | 1.706 | DISEASES 250 | ALPP | 1.76 | DISEASES 265 | AMELX | 1.299 | DISEASES 367 | AR | 1.702 | DISEASES 554 | AVPR2 | 1.58 | DISEASES 578 | BAK1 | 1.557 | DISEASES 9083 | BPY2 | 3.707 | DISEASES 442867 | BPY2B | 3.707 | DISEASES 442868 | BPY2C | 3.707 | DISEASES 983 | CDK1 | 1.591 | DISEASES 203611 | CDY2B | 2.809 | DISEASES 1485 | CTAG1B | 1.8 | DISEASES 1499 | CTNNB1 | 1.379 | DISEASES 1617 | DAZ1 | 3.487 | DISEASES 57135 | DAZ4 | 2.704 | DISEASES 8653 | DDX3Y | 3.254 | DISEASES 1761 | DMRT1 | 3.138 | DISEASES 1915 | EEF1A1 | 1.433 | DISEASES 668 | FOXL2 | 3.785 | DISEASES 2626 | GATA4 | 1.76 | DISEASES 8518 | IKBKAP | 1.65 | DISEASES 8242 | KDM5C | 1.943 | DISEASES 2516 | NR5A1 | 2.05 | DISEASES 54704 | PDP1 | 2.259 | DISEASES 26227 | PHGDH | 1.012 | DISEASES 5573 | PRKAR1A | 1.13 | DISEASES 442865 | PRYP3 | 3.132 | DISEASES 6473 | SHOX | 1.285 | DISEASES 6657 | SOX2 | 2.124 | DISEASES 6736 | SRY | 6.203 | DISEASES 23224 | SYNE2 | 1.731 | DISEASES 6925 | TCF4 | 1.143 | DISEASES 7033 | TFF3 | 1.035 | DISEASES 7258 | TSPY1 | 6.924 | DISEASES 100289087 | TSPY10 | 6.892 | DISEASES 7259 | TSPYL1 | 3.195 | DISEASES 64061 | TSPYL2 | 5.02 | DISEASES 50858 | TTTY1 | 4.943 | DISEASES 60439 | TTTY2 | 4.682 | DISEASES 8287 | USP9Y | 3.393 | DISEASES 7404 | UTY | 2.567 | DISEASES 51481 | VCX3A | 2.649 | DISEASES 7490 | WT1 | 4.846 | DISEASES 7503 | XIST | 1.661 | DISEASES 8565 | YARS | 1.541 | DISEASES 23414 | ZFPM2 | 2.922 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1289 |
|---|---|
| Disease | gonadoblastoma |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:13) HP:0008723 | Gonadal dysgenesis with female appearance, male HP:0000137 | Abnormality of the ovary HP:0003270 | Abdominal distention HP:0001939 | Laboratory abnormality HP:0008730 | Female external genitalia in individual with 46,XY karyotype HP:0030088 | Increased serum testosterone level HP:0001007 | Hirsutism HP:0000149 | Ovarian gonadoblastoma HP:0002027 | Abdominal pain HP:0000062 | Ambiguous genitalia HP:0000150 | Gonadoblastoma HP:0100621 | Dysgerminoma HP:0008703 | Gonadal calcification |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:5) HP:0100621 | Dysgerminoma | 12 HP:0000133 | Mixed gonadal dysgenesis | 3 HP:0000826 | Precocious puberty | 1 HP:0012245 | Sex reversal | 1 HP:0002664 | Neoplasia | 1 |
| Disease ID | 1289 |
|---|---|
| Disease | gonadoblastoma |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:3) |
| 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:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001939 | Abnormality of metabolism/homeostasis | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0000062 | Ambiguous genitalia | MP:0009202 | small external male genitalia | reduced size of the external masculine genital organs |
Mapped by homologous gene(Total Items:9) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0008730 | Female external genitalia in individual with 46,XY karyotype | 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:0001007 | Hirsutism | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002027 | Abdominal pain | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0003270 | Abdominal distention | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000150 | Gonadoblastoma | MP:0013745 | abnormal eyelid margin morphology | any structural anomaly of the confluence of the mucosal surface of the conjunctiva, the edge of the orbicularis, and the cutaneous epithelium |
| HP:0001939 | Abnormality of metabolism/homeostasis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000149 | Ovarian gonadoblastoma | MP:0013310 | abnormal adrenal gland development | aberrant formation or incomplete differentiation of the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the m |
| HP:0100621 | Dysgerminoma | 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:0000062 | Ambiguous genitalia | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| Disease ID | 1289 |
|---|---|
| Disease | gonadoblastoma |
| Case | (Waiting for update.) |