eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| exstrophy of the bladder | ||||
| Disease ID | 1764 |
|---|---|
| Disease | exstrophy of the bladder |
| Definition | A birth defect in which the URINARY BLADDER is malformed and exposed, inside out, and protruded through the ABDOMINAL WALL. It is caused by closure defects involving the top front surface of the bladder, as well as the lower abdominal wall; SKIN; MUSCLES; and the pubic bone. |
| Synonym | bladder exstrophies bladder exstrophy bladder exstrophy [disease/finding] bladder extrophies bladder extrophy congenital ectopic bladder congenital extroversion of urinary bladder ectopia vesicae ectopia vesicae (disorder) ectopic vesicae exstrophies, bladder exstrophies, urinary bladder exstrophy of bladder exstrophy of bladder sequence exstrophy of bladder sequence (disorder) exstrophy of urinary bladder exstrophy of urinary bladder nos exstrophy of urinary bladder nos (disorder) exstrophy, bladder exstrophy, urinary bladder extrophies, bladder extrophy bladder extrophy, bladder extroversion of bladder urinary bladder exstrophies urinary bladder exstrophy |
| Orphanet | |
| OMIM | |
| UMLS | C0005689 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:5) C0019294 | inguinal hernias | 1 C0005697 | neurogenic bladder | 1 C0014175 | endometriosis | 1 C0019294 | inguinal hernia | 1 C0033377 | procidentia | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:46) 1645 | AKR1C1 | 1.815 | DISEASES 23600 | AMACR | 1.562 | DISEASES 276 | AMY1A | 2.625 | DISEASES 277 | AMY1B | 2.625 | DISEASES 278 | AMY1C | 2.625 | DISEASES 279 | AMY2A | 2.124 | DISEASES 317 | APAF1 | 1.498 | DISEASES 51374 | ATRAID | 3.463 | DISEASES 100507056 | CCAT1 | 2.716 | DISEASES 1045 | CDX2 | 2.053 | DISEASES 1364 | CLDN4 | 1.731 | DISEASES 728577 | CNTNAP3B | 4.28 | DISEASES 1399 | CRKL | 1.98 | DISEASES 3491 | CYR61 | 1.835 | DISEASES 1785 | DNM2 | 1.276 | DISEASES 1832 | DSP | 1.706 | DISEASES 1855 | DVL1 | 2.213 | DISEASES 3266 | ERAS | 1.279 | DISEASES 2152 | F3 | 1.765 | DISEASES 2224 | FDPS | 1.842 | DISEASES 2258 | FGF13 | 1.254 | DISEASES 2524 | FUT2 | 1.751 | DISEASES 7855 | FZD5 | 2.748 | DISEASES 2520 | GAST | 1.294 | DISEASES 2804 | GOLGB1 | 2.198 | DISEASES 60495 | HPSE2 | 2.157 | DISEASES 3855 | KRT7 | 2.099 | DISEASES 9860 | LRIG2 | 3.151 | DISEASES 8510 | MMP23B | 3.197 | DISEASES 4487 | MSX1 | 1.986 | DISEASES 4524 | MTHFR | 1.358 | DISEASES 2516 | NR5A1 | 1.704 | DISEASES 25849 | PARM1 | 4.087 | DISEASES 5076 | PAX2 | 1.536 | DISEASES 7849 | PAX8 | 1.308 | DISEASES 64065 | PERP | 3.475 | DISEASES 5325 | PLAGL1 | 2.413 | DISEASES 55624 | POMGNT1 | 2.385 | DISEASES 64840 | PORCN | 2.656 | DISEASES 9467 | SH3BP5 | 2.123 | DISEASES 6473 | SHOX | 1.941 | DISEASES 23336 | SYNM | 3.217 | DISEASES 7056 | THBD | 1.77 | DISEASES 7481 | WNT11 | 2.486 | DISEASES 7479 | WNT8B | 3.391 | DISEASES 8565 | YARS | 2.197 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1764 |
|---|---|
| Disease | exstrophy of the bladder |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:13) HP:0100790 | Hernia | 2 HP:0000139 | Sagging uterus | 2 HP:0000011 | Neurogenic bladder | 1 HP:0000062 | Ambiguous external genitalia | 1 HP:0000020 | Bladder incontinence | 1 HP:0000023 | Inguinal hernia | 1 HP:0001385 | Congenital hip dysplasia | 1 HP:0001537 | Umbilical hernias | 1 HP:0002607 | Anal incontinence | 1 HP:0030127 | Endometriosis | 1 HP:0000039 | Epispadias | 1 HP:0002027 | Abdominal pain | 1 HP:0000077 | Renal anomaly | 1 |
| Disease ID | 1764 |
|---|---|
| Disease | exstrophy of the bladder |
| 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:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1764 |
|---|---|
| Disease | exstrophy of the bladder |
| Case | (Waiting for update.) |