| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (51.4%) |
4042393 |
Partial trisomy 5q and partial monosomy 5q within the same family. Lazjuk GI, Lurie IW, Kirillova IA, Zaletajev DV, Gurevich DB, Shved IA, Ostrovskaya TI. Clin Genet. 1985;28(2):122-9. |
| Short neck Clinodactyly of the 5th finger | ||
| Chromosome Banding Chromosome Deletion Chromosomes, Human, 4-5 Females Homo sapiens Monosomy Trisomy | ||
| 2 (50.2%) |
14743324 |
Exstrophy variants: should they be considered malformation complexes separate from classic exstrophy? Gupta DK, Charles AR, Srinivas M. Eur J Pediatr Surg. 2003;13(6):377-82. |
| Bifid scrotum Absent radius | ||
| Bladder Exstrophy Females Homo sapiens Infant, Newborn Male Retrospective Studies Urinary Bladder Fistula | ||
| 3 (39.0%) |
17385797 |
Syndromic encephalocele in a fetal case with a 1p35-pter deletion and a 14q32-qter duplication inherited from a maternal balanced translocation. Thauvin-Robinet C, Callier P, Laurent N, Rousseau T, Masurel-Paulet A, Marle N, Huet F, Sagot P, Faivre L, Mugneret F. Prenat Diagn. 2007;27(6):555-9. |
| Encephalocele | ||
| Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 14 Females Fetal Diseases Gene Deletion Gene Duplication Homo sapiens Pregnancy | ||
| 4 (33.1%) |
25059024 |
VACTERL association with a rare vertebral anomaly (butterfly vertebra) in a case of monochorionic twin. Sandal G, Aslan N, Duman L, Ormeci AR. Genet Couns. 2014;25(2):231-5. |
| Single umbilical artery Butterfly vertebrae Preaxial polydactyly | ||
| Congenital Heart Defects Esophagus Fatal Outcome Homo sapiens Infant, Newborn Kidney Limb Deformities, Congenital Male Trachea Ultrasonography, Prenatal | ||
| 5 (17.5%) |
16910462 |
[Congenital megacystis in a female fetus. Case report]. Beretta F, Piro E, Fedeli T, Abati L, Cremaschini G, D'Alessio A. Pediatr Med Chir. 2005;27(3-4):112-6. |
| Neurogenic bladder Myopathy | ||
| Counseling Differential Diagnosis Females Fetal Diseases Fetus Homo sapiens Pregnancy Pregnancy Trimester, Second Ultrasonography, Prenatal Urinary Bladder Urinary Bladder Diseases | ||
| 5 (17.5%) |
16338878 |
Squamous cell peritonitis associated with hydrometrocolpos in a multimalformed newborn. Drut R. Fetal Pediatr Pathol. 2005;24(3):161-8. |
| Single umbilical artery Hiatus hernia | ||
| Females Homo sapiens Hydrocolpos Infant, Newborn Oligohydramnios Peritonitis Placenta Pregnancy | ||
| 7 (4.0%) |
30297116 |
Acquired Urethrovaginal Fistula and Urethral Atresia in a Patient with a Sacrococcygeal Teratoma. Halleran DR, Ahmad H, Ching C, Gorra A, McCracken K, Wood RJ, Levitt MA. J Pediatr Surg. 2019;54(3):612-615. |
| Urethrovaginal fistula | ||
| Females Homo sapiens Infant Preoperative Care Sacrococcygeal Region Teratoma Urethral Diseases Urogenital Abnormalities Vaginal Fistula | ||
| 7 (4.0%) |
26881326 |
VATER/VACTERL Association and Caudal Regression with Xq25-q27.3 Microdeletion: A Case Report. Puvabanditsin S, Van Gurp J, February M, Khalil M, Mayne J, Ai McConnell J, Mehta R. Fetal Pediatr Pathol. 2016;35(2):133-41. |
| Single umbilical artery | ||
| Anus, Imperforate Chromosomes, Human, X Congenital Heart Defects Esophagus Females Gene Deletion Homo sapiens Infant, Newborn Kidney Limb Deformities, Congenital Trachea | ||
| 7 (4.0%) |
24375864 |
Cystoscopic placement of transurethral stent in a fetus with urethral stenosis. Ruano R, Yoshizaki CT, Giron AM, Srougi M, Zugaib M. Ultrasound Obstet Gynecol. 2014;44(2):238-40. |
| Urethral stenosis | ||
| Adult Catheterization Cystoscopy Females Fetal Diseases Fetus Gestational Age Homo sapiens Infant Male Pregnancy Ultrasonography, Prenatal Urethra Urethral Obstruction Urethral Stenosis Urinary Bladder | ||
| 7 (4.0%) |
23752166 |
Postmortem high-resolution fetal magnetic resonance imaging in three cases of lower urinary tract obstruction. Lefere M, Sandaite I, Hindryckx A, Devlieger R, De Catte L, Moerman P, Claus F. Fetal Diagn Ther. 2013;34(3):195-8. |
| Megacystis | ||
| Adult Females Fetal Diseases Homo sapiens Magnetic Resonance Imaging Urethral Obstruction |
Total: 0
| HPO ID | Term | Frequency |
|---|
Total: 33
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001562 | Oligohydramnios | 4 |
| HP:0002089 | Pulmonary hypoplasia | 4 |
| HP:0001195 | Single umbilical artery | 3 |
| HP:0000048 | Bifid scrotum | 2 |
| HP:0000126 | Hydronephrosis | 2 |
| HP:0010481 | Urethral valve | 2 |
| HP:0000011 | Neurogenic bladder | 1 |
| HP:0000014 | Abnormality of the bladder | 1 |
| HP:0000028 | Cryptorchidism | 1 |
| HP:0000047 | Hypospadias | 1 |
| HP:0000072 | Hydroureter | 1 |
| HP:0000086 | Ectopic kidney | 1 |
| HP:0000125 | Pelvic kidney | 1 |
| HP:0001196 | Short umbilical cord | 1 |
| HP:0001537 | Umbilical hernia | 1 |
| HP:0001541 | Ascites | 1 |
| HP:0002036 | Hiatus hernia | 1 |
| HP:0002076 | Migraine | 1 |
| HP:0002079 | Hypoplasia of the corpus callosum | 1 |
| HP:0002575 | Tracheoesophageal fistula | 1 |
| HP:0002878 | Respiratory failure | 1 |
| HP:0003198 | Myopathy | 1 |
| HP:0003316 | Butterfly vertebrae | 1 |
| HP:0003974 | Absent radius | 1 |
| HP:0008635 | Hypertrophy of the urinary bladder | 1 |
| HP:0008661 | Urethral stenosis | 1 |
| HP:0008716 | Urethrovaginal fistula | 1 |
| HP:0010458 | Female pseudohermaphroditism | 1 |
| HP:0010459 | True hermaphroditism | 1 |
| HP:0010480 | Urethral fistula | 1 |
| HP:0012227 | Urethral stricture | 1 |
| HP:0100258 | Preaxial polydactyly | 1 |
| HP:0100590 | Rectal fistula | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|