| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (67.0%) |
9839359 |
Infant with midline thoracoabdominal schisis and limb defects. Pivnick EK, Kaufman RA, Velagaleti GV, Gunther WM, Abramovici D. Teratology. 1998;58(5):205-8. |
| Phocomelia Bilateral cleft lip | ||
| Abdomen Fatal Outcome Homo sapiens Infant, Newborn Limb Deformities, Congenital Respiratory Diaphragm Sternum Syndrome | ||
| 2 (57.8%) |
17974172 |
[Pentalogy of Cantrell--a case report]. Vulkova A, Kovacheva K, Rosmanova R, Simeonova M. Akush Ginekol (Sofiia). 2007;46(6):41-3. |
| Microcephaly Micrognathia | ||
| Adult Congenital Heart Defects Females Homo sapiens Infant, Newborn Pregnancy Syndrome | ||
| 3 (45.1%) |
31191138 |
PHACES syndrome with ectopia cordis and hemihypertrophy. Chokr J, Taslakian B, Maroun G, Choudhary G. Proc (Bayl Univ Med Cent). 2019;32(2):237-239. |
| Facial hemangioma Hemihypertrophy | ||
| 4 (40.2%) |
21248081 |
PHACES syndrome and ectopia cordis. Lopez-Gutierrez JC. Interact Cardiovasc Thorac Surg. 2011;12(4):642-4. |
| Facial hemangioma Dandy-Walker malformation | ||
| Ectopia Cordis Eye Abnormalities Females Homo sapiens Infant, Newborn Neurocutaneous Syndromes X-Ray Computed Tomography | ||
| 5 (39.0%) |
17228152 |
Prenatal sonographic diagnosis of a rare Cantrell's pentalogy variant with associated open neural tube defect - a case report. Loureiro T, Oliveira C, Aroso J, Ferreira MJ, Vieira J. Fetal Diagn Ther. 2007;22(3):172-4. |
| Encephalocele | ||
| Adult Congenital Heart Defects Females Homo sapiens Meningomyelocele Neural Tube Defects Pregnancy Syndrome Ultrasonography, Prenatal | ||
| 5 (39.0%) |
10355891 |
First-trimester sonographic diagnosis of Cantrell's pentalogy with exencephaly. Bognoni V, Quartuccio A, Quartuccio A. J Clin Ultrasound. 1999;27(5):276-8. |
| Acrania | ||
| Adult Brain Congenital Heart Defects Females Homo sapiens Pregnancy Pregnancy Trimester, First Ultrasonography, Prenatal | ||
| 7 (33.8%) |
8116146 |
Cervico-pectoral ectopia cordis in two Holstein calves. Hiraga T, Abe M, Iwasa K, Takehana K, Tanigaki A. Vet Pathol. 1993;30(6):529-34. |
| Torticollis | ||
| Animals Cattle Cattle Diseases Congenital Heart Defects Females Male | ||
| 8 (32.1%) |
29734561 |
A case of Cantrell syndrome diagnosed in the first trimester. Delibas IB, Isaoglu U, Tanriverdi EC, Yilmaz M. Clin Exp Obstet Gynecol. 2016;43(4):612-613. |
| Cleft lip | ||
| Adult Females Homo sapiens Pentalogy of Cantrell Pregnancy Pregnancy Trimester, First Syndrome | ||
| 9 (31.4%) |
21484999 |
Co-occurrence of severe Goltz-Gorlin syndrome and pentalogy of Cantrell - Case report and review of the literature. Smigiel R, Jakubiak A, Lombardi MP, Jaworski W, Slezak R, Patkowski D, Hennekam RC. Am J Med Genet A. 2011;155A(5):1102-5. |
| Anophthalmia Caudal appendage | ||
| PORCN | ||
| c|SUB|C|727|T | ||
| Females Focal Dermal Hypoplasia Homo sapiens Infant Mutation Severity of Illness Index | ||
| 10 (30.6%) |
26152022 |
Pentalogy of Cantrell accompanied by scoliosis and pes equinovarus deformity at 12 weeks gestation. Pekin AT, Kerimoglu OS, Yilmaz SA, Kebapcilar AG, Bakbak BG, Celik C. Clin Exp Obstet Gynecol. 2015;42(3):392-4. |
| Ventricular septal defect Scoliosis Equinovarus deformity | ||
| Chorionic Villi Sampling Congenital Heart Defects Down Syndrome Females Gestational Age Homo sapiens Pentalogy of Cantrell Pregnancy Pregnancy Trimester, First Ultrasonography, Prenatal Young Adult |
Total: 0
| HPO ID | Term | Frequency |
|---|
Total: 34
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0010866 | Abdominal wall defect | 13 |
| HP:0001629 | Ventricular septal defect | 5 |
| HP:0001750 | Single ventricle | 4 |
| HP:0010309 | Bifid sternum | 3 |
| HP:0100790 | Hernia | 3 |
| HP:0000476 | Cystic hygroma | 2 |
| HP:0000528 | Anophthalmia | 2 |
| HP:0100656 | Thoracoabdominal wall defect | 2 |
| HP:0000141 | Amenorrhea | 1 |
| HP:0000238 | Hydrocephalus | 1 |
| HP:0000252 | Microcephaly | 1 |
| HP:0000316 | Hypertelorism | 1 |
| HP:0000347 | Micrognathia | 1 |
| HP:0000369 | Low-set ears | 1 |
| HP:0000568 | Microphthalmia | 1 |
| HP:0000879 | Short sternum | 1 |
| HP:0001028 | Hemangioma | 1 |
| HP:0001528 | Hemihypertrophy | 1 |
| HP:0001561 | Polyhydramnios | 1 |
| HP:0001746 | Asplenia | 1 |
| HP:0002323 | Anencephaly | 1 |
| HP:0002436 | Occipital meningocele | 1 |
| HP:0002650 | Scoliosis | 1 |
| HP:0002825 | Caudal appendage | 1 |
| HP:0005160 | Total anomalous pulmonary venous return | 1 |
| HP:0008070 | Sparse hair | 1 |
| HP:0009829 | Phocomelia | 1 |
| HP:0010301 | Spinal dysraphism | 1 |
| HP:0011565 | Common atrium | 1 |
| HP:0011623 | Muscular ventricular septal defect | 1 |
| HP:0030754 | Allantoic cyst | 1 |
| HP:0030769 | Exencephaly | 1 |
| HP:0031046 | Absent soft palate | 1 |
| HP:0100336 | Bilateral cleft lip | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|