| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (65.3%) |
18950501 (2584075) |
A novel malformation complex of bilateral and symmetric preaxial radial ray-thumb aplasia and lower limb defects with minimal facial dysmorphic features: a case report and literature review. Al Kaissi A, Klaushofer K, Krebs A, Grill F. Cases J. 2008;1(1):271. |
| Micrognathia Fibular hypoplasia | ||
| 2 (64.3%) |
18254577 |
Trisomy 18 with multiple rare malformations: report of one case. Su PH, Chen JY, Hsu CH, Chen SJ, Chan SW, Lin LL. Acta Paediatr Taiwan. 2007;48(5):272-5. |
| Dandy-Walker malformation Absent radius | ||
| Chromosomes, Human, Pair 18 Dandy-Walker Syndrome Females Homo sapiens Infant, Newborn Trisomy Ultrasonography, Prenatal | ||
| 3 (60.5%) |
19776546 |
Severe micrognathia: indications for EXIT-to-Airway. Morris LM, Lim FY, Elluru RG, Hopkin RJ, Jaekle RK, Polzin WJ, Crombleholme TM. Fetal Diagn Ther. 2009;26(3):162-6. |
| Glossoptosis Micrognathia | ||
| Adult Airway Obstruction Esophageal Atresia Females Fetal Diseases Homo sapiens Mandible Micrognathism Pregnancy Ultrasonography, Prenatal Young Adult | ||
| 3 (60.5%) |
16681404 |
Pierre Robin sequence with esophageal atresia and congenital radioulnar synostosis. Ozkan KU, Coban YK, Uzel M, Ergun M, Oksuz H. Cleft Palate Craniofac J. 2006;43(3):317-20. |
| Glossoptosis Micrognathia | ||
| Esophageal Atresia Homo sapiens Infant, Newborn Male Pierre Robin Syndrome Tracheoesophageal Fistula | ||
| 5 (58.8%) |
10817649 |
Imperforate anus in Feingold syndrome. Buttiker V, Wojtulewicz J, Wilson M. Am J Med Genet. 2000;92(3):166-9. |
| Microcephaly Brachydactyly Short palpebral fissure | ||
| Anus, Imperforate Duodenal Diseases Esophageal Atresia Females Fingers Homo sapiens Infant, Newborn Male Microcephaly Rectal Fistula Syndactyly Syndrome Toes | ||
| 6 (57.8%) |
24243657 |
A fetus with de novo 2q33.2q35 deletion including MAP2 with brain anomalies, esophageal atresia, and laryngeal stenosis. van Binsbergen E, Ellis RJ, Abdelmalik N, Jarvis J, Randhawa K, Wyatt-Ashmead J, Canham N, Thorpe-Beeston JG, Mancini GM, Van Haelst MM. Am J Med Genet A. 2014;164A(1):194-8. |
| Microcephaly Micrognathia | ||
| MAP2 | ||
| Autopsy Brain Chromosome Deletion Chromosomes, Human, Pair 2 Craniofacial Abnormalities Esophageal Atresia Females Fetus Fluorescent in Situ Hybridization Homo sapiens Laryngostenosis Microcephaly Microtubule-Associated Proteins Phenotype | ||
| 7 (57.7%) |
24648351 |
Encephalocele-radial, cardiac, gastrointestinal, anal/renal anomalies: novel evidence for a new condition? Valdez CM, Altmayer SP, Barrow MA, Telles JA, Betat Rda S, Zen PR, Rosa RF. Am J Med Genet A. 2014;164A(5):1085-91. |
| Encephalocele Phocomelia | ||
| Adult Congenital Heart Defects Differential Diagnosis Esophagus Females Homo sapiens Infant, Newborn Kidney Limb Deformities, Congenital Phenotype Pregnancy Stillbirth Syndrome Trachea Ultrasonography, Prenatal | ||
| 8 (56.6%) |
25287747 |
UBE2A deficiency syndrome: a report of two unrelated cases with large Xq24 deletions encompassing UBE2A gene. Thunstrom S, Sodermark L, Ivarsson L, Samuelsson L, Stefanova M. Am J Med Genet A. 2015;167A(1):204-10. |
| Wide mouth Synophrys Long fingers | ||
| UBE2A | ||
| rs1556235119 rs1556235129 | ||
| Child, Preschool Chromosome Deletion Chromosomes, Human, X Homo sapiens Infant Infant, Newborn Male Syndrome Ubiquitin-Conjugating Enzymes | ||
| 9 (54.9%) |
20676578 |
Fibular dimelia and mirror polydactyly of the foot in a girl presenting additional features of the VACTERL association. Bernardi P, Graziadio C, Rosa RF, Pfeil JN, Zen PR, Paskulin GA. Sao Paulo Med J. 2010;128(2):99-101. |
| Long philtrum Polydactyly | ||
| Abortifacient Agents, Nonsteroidal Congenital Foot Deformity Females Fibula Homo sapiens Infant Polydactyly | ||
| 10 (53.2%) |
17848225 |
Feingold syndome: a rare but important cause of syndromic tracheoesophageal fistula. Layman-Pleet L, Jackson CC, Chou S, Boycott KM. J Pediatr Surg. 2007;42(9):E1-3. |
| Microcephaly Finger clinodactyly | ||
| rs886041801 | ||
| Esophageal Atresia Homo sapiens Infant Male Mutation N-Myc Proto-Oncogene Protein Nuclear Proteins Oncogene Proteins Syndrome Tracheoesophageal Fistula |
Total: 61
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0002575 | Tracheoesophageal fistula | Very frequent (99-80%) |
| HP:0001531 | Failure to thrive in infancy | Frequent (79-30%) |
| HP:0002013 | Vomiting | Frequent (79-30%) |
| HP:0002015 | Dysphagia | Frequent (79-30%) |
| HP:0002091 | Restrictive ventilatory defect | Frequent (79-30%) |
| HP:0002205 | Recurrent respiratory infections | Frequent (79-30%) |
| HP:0002579 | Gastrointestinal dysmotility | Frequent (79-30%) |
| HP:0003781 | Excessive salivation | Frequent (79-30%) |
| HP:0006510 | Chronic obstructive pulmonary disease | Frequent (79-30%) |
| HP:0008872 | Feeding difficulties in infancy | Frequent (79-30%) |
| HP:0010963 | Absence of stomach bubble on fetal sonography | Frequent (79-30%) |
| HP:0012387 | Bronchitis | Frequent (79-30%) |
| HP:0012523 | Oral aversion | Frequent (79-30%) |
| HP:0100326 | Immunologic hypersensitivity | Frequent (79-30%) |
| HP:0100633 | Esophagitis | Frequent (79-30%) |
| HP:0000079 | Abnormality of the urinary system | Occasional (29-5%) |
| HP:0000119 | Abnormality of the genitourinary system | Occasional (29-5%) |
| HP:0000961 | Cyanosis | Occasional (29-5%) |
| HP:0000980 | Pallor | Occasional (29-5%) |
| HP:0001510 | Growth delay | Occasional (29-5%) |
| HP:0001518 | Small for gestational age | Occasional (29-5%) |
| HP:0001561 | Polyhydramnios | Occasional (29-5%) |
| HP:0001604 | Vocal cord paresis | Occasional (29-5%) |
| HP:0001607 | Subglottic stenosis | Occasional (29-5%) |
| HP:0002020 | Gastroesophageal reflux | Occasional (29-5%) |
| HP:0002021 | Pyloric stenosis | Occasional (29-5%) |
| HP:0002098 | Respiratory distress | Occasional (29-5%) |
| HP:0002835 | Aspiration | Occasional (29-5%) |
| HP:0003468 | Abnormal vertebral morphology | Occasional (29-5%) |
| HP:0004885 | Episodic respiratory distress | Occasional (29-5%) |
| HP:0008755 | Laryngotracheomalacia | Occasional (29-5%) |
| HP:0012252 | Abnormal respiratory system morphology | Occasional (29-5%) |
| HP:0012718 | Morphological abnormality of the gastrointestinal tract | Occasional (29-5%) |
| HP:0012732 | Anorectal anomaly | Occasional (29-5%) |
| HP:0030084 | Clinodactyly | Occasional (29-5%) |
| HP:0030680 | Abnormality of cardiovascular system morphology | Occasional (29-5%) |
| HP:0040064 | Abnormality of limbs | Occasional (29-5%) |
| HP:0040290 | Abnormality of skeletal muscles | Occasional (29-5%) |
| HP:0000104 | Renal agenesis | Very rare (4-1%) |
| HP:0000175 | Cleft palate | Very rare (4-1%) |
| HP:0000365 | Hearing impairment | Very rare (4-1%) |
| HP:0000453 | Choanal atresia | Very rare (4-1%) |
| HP:0000589 | Coloboma | Very rare (4-1%) |
| HP:0000598 | Abnormality of the ear | Very rare (4-1%) |
| HP:0000811 | Abnormal external genitalia | Very rare (4-1%) |
| HP:0001252 | Muscular hypotonia | Very rare (4-1%) |
| HP:0001276 | Hypertonia | Very rare (4-1%) |
| HP:0001539 | Omphalocele | Very rare (4-1%) |
| HP:0001629 | Ventricular septal defect | Very rare (4-1%) |
| HP:0001636 | Tetralogy of Fallot | Very rare (4-1%) |
| HP:0001680 | Coarctation of aorta | Very rare (4-1%) |
| HP:0001999 | Abnormal facial shape | Very rare (4-1%) |
| HP:0002089 | Pulmonary hypoplasia | Very rare (4-1%) |
| HP:0002247 | Duodenal atresia | Very rare (4-1%) |
| HP:0002566 | Intestinal malrotation | Very rare (4-1%) |
| HP:0002650 | Scoliosis | Very rare (4-1%) |
| HP:0002672 | Gastrointestinal carcinoma | Very rare (4-1%) |
| HP:0008751 | Laryngeal cleft | Very rare (4-1%) |
| HP:0009800 | Maternal diabetes | Very rare (4-1%) |
| HP:0100580 | Barrett esophagus | Very rare (4-1%) |
| HP:0410030 | Cleft lip | Very rare (4-1%) |
Total: 140
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0002575 | Tracheoesophageal fistula | 213 |
| HP:0002023 | Anal atresia | 26 |
| HP:0002779 | Tracheomalacia | 16 |
| HP:0002098 | Respiratory distress | 15 |
| HP:0001561 | Polyhydramnios | 12 |
| HP:0010450 | Esophageal stenosis | 11 |
| HP:0002020 | Gastroesophageal reflux | 10 |
| HP:0002015 | Dysphagia | 9 |
| HP:0000568 | Microphthalmia | 6 |
| HP:0001643 | Patent ductus arteriosus | 6 |
| HP:0002777 | Tracheal stenosis | 6 |
| HP:0010775 | Vascular ring | 6 |
| HP:0000528 | Anophthalmia | 5 |
| HP:0001511 | Intrauterine growth retardation | 5 |
| HP:0001629 | Ventricular septal defect | 5 |
| HP:0002021 | Pyloric stenosis | 5 |
| HP:0002090 | Pneumonia | 5 |
| HP:0002617 | Dilatation | 5 |
| HP:0100790 | Hernia | 5 |
| HP:0002043 | Esophageal stricture | 4 |
| HP:0002089 | Pulmonary hypoplasia | 4 |
| HP:0002571 | Achalasia | 4 |
| HP:0002835 | Aspiration | 4 |
| HP:0010310 | Chylothorax | 4 |
| HP:0100682 | Tracheal atresia | 4 |
| HP:0000238 | Hydrocephalus | 3 |
| HP:0000347 | Micrognathia | 3 |
| HP:0002099 | Asthma | 3 |
| HP:0002580 | Volvulus | 3 |
| HP:0002878 | Respiratory failure | 3 |
| HP:0008750 | Laryngeal atresia | 3 |
| HP:0012735 | Cough | 3 |
| HP:0100681 | Esophageal duplication | 3 |
| HP:0000028 | Cryptorchidism | 2 |
| HP:0000201 | Pierre-Robin sequence | 2 |
| HP:0000252 | Microcephaly | 2 |
| HP:0000256 | Macrocephaly | 2 |
| HP:0000822 | Hypertension | 2 |
| HP:0001195 | Single umbilical artery | 2 |
| HP:0001602 | Laryngeal stenosis | 2 |
| HP:0003781 | Excessive salivation | 2 |
| HP:0005301 | Persistent left superior vena cava | 2 |
| HP:0008751 | Laryngeal cleft | 2 |
| HP:0010307 | Stridor | 2 |
| HP:0010480 | Urethral fistula | 2 |
| HP:0011968 | Feeding difficulties | 2 |
| HP:0100259 | Postaxial polydactyly | 2 |
| HP:0100594 | Esophageal web | 2 |
| HP:0100633 | Esophagitis | 2 |
| HP:0000023 | Inguinal hernia | 1 |
| HP:0000048 | Bifid scrotum | 1 |
| HP:0000062 | Ambiguous genitalia | 1 |
| HP:0000100 | Nephrotic syndrome | 1 |
| HP:0000123 | Nephritis | 1 |
| HP:0000126 | Hydronephrosis | 1 |
| HP:0000135 | Hypogonadism | 1 |
| HP:0000162 | Glossoptosis | 1 |
| HP:0000316 | Hypertelorism | 1 |
| HP:0000324 | Facial asymmetry | 1 |
| HP:0000413 | Atresia of the external auditory canal | 1 |
| HP:0000452 | Choanal stenosis | 1 |
| HP:0000480 | Retinal coloboma | 1 |
| HP:0000508 | Ptosis | 1 |
| HP:0000518 | Cataract | 1 |
| HP:0000589 | Coloboma | 1 |
| HP:0000609 | Optic nerve hypoplasia | 1 |
| HP:0000807 | Glandular hypospadias | 1 |
| HP:0000960 | Sacral dimple | 1 |
| HP:0001159 | Syndactyly | 1 |
| HP:0001508 | Failure to thrive | 1 |
| HP:0001518 | Small for gestational age | 1 |
| HP:0001541 | Ascites | 1 |
| HP:0001640 | Cardiomegaly | 1 |
| HP:0001791 | Fetal ascites | 1 |
| HP:0001837 | Broad toe | 1 |
| HP:0001873 | Thrombocytopenia | 1 |
| HP:0002013 | Vomiting | 1 |
| HP:0002027 | Abdominal pain | 1 |
| HP:0002084 | Encephalocele | 1 |
| HP:0002093 | Respiratory insufficiency | 1 |
| HP:0002100 | Recurrent aspiration pneumonia | 1 |
| HP:0002140 | Ischemic stroke | 1 |
| HP:0002144 | Tethered cord | 1 |
| HP:0002202 | Pleural effusion | 1 |
| HP:0002307 | Drooling | 1 |
| HP:0002311 | Incoordination | 1 |
| HP:0002315 | Headache | 1 |
| HP:0002321 | Vertigo | 1 |
| HP:0002444 | Hypothalamic hamartoma | 1 |
| HP:0002527 | Falls | 1 |
| HP:0002566 | Intestinal malrotation | 1 |
| HP:0002576 | Intussusception | 1 |
| HP:0002589 | Gastrointestinal atresia | 1 |
| HP:0002650 | Scoliosis | 1 |
| HP:0002786 | Tracheobronchomalacia | 1 |
| HP:0002789 | Tachypnea | 1 |
| HP:0002860 | Squamous cell carcinoma | 1 |
| HP:0002943 | Thoracic scoliosis | 1 |
| HP:0002944 | Thoracolumbar scoliosis | 1 |
| HP:0003974 | Absent radius | 1 |
| HP:0004383 | Hypoplastic left heart | 1 |
| HP:0004387 | Enterocolitis | 1 |
| HP:0004395 | Malnutrition | 1 |
| HP:0005110 | Atrial fibrillation | 1 |
| HP:0005160 | Total anomalous pulmonary venous return | 1 |
| HP:0005815 | Supernumerary ribs | 1 |
| HP:0005912 | Biliary atresia | 1 |
| HP:0006254 | Elevated alpha-fetoprotein | 1 |
| HP:0006882 | Severe hydrocephalus | 1 |
| HP:0007185 | Loss of consciousness | 1 |
| HP:0008897 | Postnatal growth retardation | 1 |
| HP:0009792 | Teratoma | 1 |
| HP:0010444 | Pulmonary insufficiency | 1 |
| HP:0010627 | Anterior pituitary hypoplasia | 1 |
| HP:0010880 | Increased nuchal translucency | 1 |
| HP:0011344 | Severe global developmental delay | 1 |
| HP:0011480 | Unilateral microphthalmos | 1 |
| HP:0011590 | Double aortic arch | 1 |
| HP:0011787 | Central hypothyroidism | 1 |
| HP:0011951 | Aspiration pneumonia | 1 |
| HP:0012385 | Camptodactyly | 1 |
| HP:0012621 | Persistent cloaca | 1 |
| HP:0012653 | Status asthmaticus | 1 |
| HP:0025023 | Rectal atresia | 1 |
| HP:0025356 | Psychomotor retardation | 1 |
| HP:0025407 | Rectourethral fistula | 1 |
| HP:0030010 | Hydrometrocolpos | 1 |
| HP:0030084 | Clinodactyly | 1 |
| HP:0030707 | Unilateral lung agenesis | 1 |
| HP:0030711 | Hydrocolpos | 1 |
| HP:0100021 | Cerebral palsy | 1 |
| HP:0100255 | Metaphyseal dysplasia | 1 |
| HP:0100279 | Ulcerative colitis | 1 |
| HP:0100559 | Lower limb asymmetry | 1 |
| HP:0100580 | Barrett esophagus | 1 |
| HP:0100628 | Esophageal diverticulum | 1 |
| HP:0100660 | Dyskinesia | 1 |
| HP:0100807 | Long fingers | 1 |
| HP:0100841 | Microgastria | 1 |
| HP:0100867 | Duodenal stenosis | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|