| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (57.3%) |
18334805 |
Fraser-cryptophthalmos syndrome with colonic atresia. Narang M, Kumar M, Shah D. Indian J Pediatr. 2008;75(2):189-91. |
| Cryptophthalmos Syndactyly | ||
| Craniofacial Abnormalities Eye Abnormalities Homo sapiens Hypospadias Infant, Newborn Intestinal Atresia Limb Deformities, Congenital Male Syndactyly Syndrome | ||
| 2 (48.2%) |
9314266 |
Hirschsprung's disease, colonic atresia, and absent hand: a new triad. Croaker GD, Harvey JG, Cass DT. J Pediatr Surg. 1997;32(9):1368-70. |
| Absent hand | ||
| Congenital Hand Deformities Hirschsprung Disease Homo sapiens Infant, Newborn Intestinal Atresia Male | ||
| 3 (32.2%) |
19205729 |
Multiple malformations: a possible Sonic hedgehog phenotype? Wainwright H, Beighton P. Virchows Arch. 2009;454(3):345-7. |
| Hydrocephalus Epiphyseal stippling | ||
| Fetus Hedgehog Proteins Homo sapiens Phenotype | ||
| 4 (21.2%) |
22152889 |
Trilogy of gastrointestinal atresias: a case report and review of the literature. Kwok IH, Grant HW, Menon P. J Pediatr Surg. 2011;46(12):2391-3. |
| Subglottic stenosis Spondyloepimetaphyseal dysplasia | ||
| Anus, Imperforate Deafness Developmental Disabilities Dwarfism Gastric Bypass Hirschsprung Disease Homo sapiens Infant, Newborn Infant, Premature, Diseases Intestinal Atresia Limb Deformities, Congenital Male Osteochondrodysplasias Polycystic Kidney Diseases Preterm Infant Pylorus Syndrome | ||
| 5 (17.5%) |
26023492 (4420329) |
Colonic Atresia due to Internal Herniation through the Falciform Ligament Defect: A Case Report. Soni V, Valse PD, Vyas S. J Neonatal Surg. 2014;3(2):21. |
| Hernia | ||
| 5 (17.5%) |
24647301 |
Congenital hernia of the umbilical cord associated with extracelomic colonic atresia and perforation of gut in a newborn. Pal K. Afr J Paediatr Surg. 2014;11(1):74-6. |
| Umbilical hernia | ||
| Adult Differential Diagnosis Females Homo sapiens Infant, Newborn Intestinal Atresia Intestinal Perforation Male | ||
| 7 (4.0%) |
27123398 (4841370) |
Gallbladder Duplication Associated with Gastro-Intestinal Atresia. Gupta R, Gupta S, Sharma P, Bhandari A, Gupta AK, Mathur P. J Neonatal Surg. 2016;5(2):14. |
| Intestinal atresia | ||
| 7 (4.0%) |
27023781 |
Role of intraluminal bowel echogenicity on prenatal ultrasounds to determine the anatomical level of intestinal atresia. Goruppi I, Arevalo S, Gander R, Molino JA, Oria M, Carreras E, Peiro JL. J Matern Fetal Neonatal Med. 2017;30(1):103-108. |
| Vascular dilatation | ||
| Adult Females Homo sapiens Infant, Newborn Intestinal Atresia Intestines, Small Male Pregnancy Retrospective Studies Ultrasonography, Prenatal | ||
| 7 (4.0%) |
26166992 (4481633) |
Colonic atresia associated with annular pancreas: An extremely rare and previously unreported association. Halder P, Kumar R, Mukhopadhyay M, Mandal KC, Mukhopadhyay B. J Indian Assoc Pediatr Surg. 2015;20(3):157-9. |
| Abdominal wall defect | ||
| 7 (4.0%) |
25959916 |
Atresia of the Colon Associated with Hirschsprung's Disease. Diaz DN, Eftekhari K. Arch Iran Med. 2015;18(5):322-3. |
| Vomiting | ||
| Biopsy Females Hirschsprung Disease Homo sapiens Infant, Newborn Intestinal Atresia Laparotomy Rectum |
Total: 8
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0004398 | Peptic ulcer | Very frequent (99-80%) |
| HP:0010448 | Colonic atresia | Very frequent (99-80%) |
| HP:0100016 | Abnormality of mesentery morphology | Frequent (79-30%) |
| HP:0100867 | Duodenal stenosis | Frequent (79-30%) |
| HP:0001539 | Omphalocele | Occasional (29-5%) |
| HP:0001543 | Gastroschisis | Occasional (29-5%) |
| HP:0003270 | Abdominal distention | Occasional (29-5%) |
| HP:0003363 | Abdominal situs inversus | Occasional (29-5%) |
Total: 21
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0011102 | Ileal atresia | 4 |
| HP:0005214 | Intestinal obstruction | 3 |
| HP:0011286 | Total colonic aganglionosis | 3 |
| HP:0002617 | Dilatation | 2 |
| HP:0005234 | Neonatal intestinal obstruction | 2 |
| HP:0000238 | Hydrocephalus | 1 |
| HP:0001607 | Subglottic stenosis | 1 |
| HP:0001791 | Fetal ascites | 1 |
| HP:0002013 | Vomiting | 1 |
| HP:0002019 | Constipation | 1 |
| HP:0002027 | Abdominal pain | 1 |
| HP:0002651 | Spondyloepimetaphyseal dysplasia | 1 |
| HP:0003270 | Abdominal distention | 1 |
| HP:0004050 | Absent hand | 1 |
| HP:0004387 | Enterocolitis | 1 |
| HP:0010866 | Abdominal wall defect | 1 |
| HP:0011100 | Intestinal atresia | 1 |
| HP:0012851 | Colonic stenosis | 1 |
| HP:0025025 | Rectovestibular fistula | 1 |
| HP:0025150 | Hypoganglionosis | 1 |
| HP:0100790 | Hernia | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|