| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (63.5%) |
9096752 |
Syndrome of microcephaly, facial and hand abnormalities, tracheoesophageal fistula, duodenal atresia, and developmental delay. Feingold M, Hall BD, Lacassie Y, Martinez-Frias ML. Am J Med Genet. 1997;69(3):245-9. |
| Micrognathia Narrow palpebral fissure | ||
| rs886041801 | ||
| Child, Preschool Congenital Foot Deformity Congenital Hand Deformities Developmental Disabilities Duodenum Face Females Homo sapiens Infant Infant, Newborn Male Microcephaly Syndrome Tracheoesophageal Fistula | ||
| 2 (58.8%) |
10911531 |
[Feingold syndrome]. Alessandri JL, Graber D, Tiran-Rajaofera I, Montbrun A, Pilorget H, Samperiz S, Attali T, de Napoli-Cocci S. Arch Pediatr. 2000;7(6):637-40. |
| Microcephaly Brachydactyly Short palpebral fissure | ||
| Duodenal Diseases Fingers Homo sapiens Infant Male Microcephaly Syndrome Toes | ||
| 3 (58.2%) |
1870095 |
Autosomal dominant inheritance of abnormalities of the hands and feet with short palpebral fissures, variable microcephaly with learning disability, and oesophageal/duodenal atresia. Brunner HG, Winter RM. J Med Genet. 1991;28(6):389-94. |
| Microcephaly Abnormality of the hand Short palpebral fissure | ||
| Congenital Foot Deformity Congenital Hand Deformities Duodenal Obstruction Esophageal Atresia Females Genes, Dominant Homo sapiens Infant, Newborn Intestinal Atresia Learning Disabilities Male Microcephaly Pregnancy Syndrome | ||
| 4 (57.8%) |
30351808 |
[Difficult Airway Management in a Low Birth Weight Infant Using an Upper Gastrointestinal Endoscope]. Sada Y, Taniguchi A, Miyamoto Y, Kitagawa H, Kinoucmi K. Masui. 2016;65(11):1173-1175. |
| Micrognathia | ||
| SYNM | ||
| Airway Management Duodenal Obstruction Endoscopes, Gastrointestinal Females Homo sapiens Infant Intestinal Atresia Intubation, Intratracheal Laryngoscopes Larynx Low Birth Weight Infant | ||
| 4 (57.8%) |
7831991 |
[A liveborn infant with triploidy (69, XXX): report of one case]. Yeh HY, Shen SY. Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1994;35(6):559-64. |
| Micrognathia | ||
| Chromosome Aberrations Duodenal Obstruction Females Homo sapiens Infant, Newborn Intestinal Atresia Polyploidy | ||
| 6 (54.5%) |
19852433 |
A Feingold syndrome case with previously undescribed features and a new mutation. Kocak H, Ozaydin E, Kose G, Marcelis CL, Kamsteeg EJ, Ceylaner S. Genet Couns. 2009;20(3):261-7. |
| Microcephaly Syndactyly Short palpebral fissure | ||
| MYCN | ||
| Chromosome Aberrations Craniofacial Abnormalities Duodenum Esophageal Atresia Fingers Genes, Dominant Homo sapiens Infant Intestinal Atresia Male Microcephaly Missense Mutation N-Myc Proto-Oncogene Protein Nuclear Proteins Oncogene Proteins Phenotype Syndrome West Syndrome | ||
| 6 (54.5%) |
9375923 |
Feingold syndrome: report of a new family and review. Courtens W, Levi S, Verbelen F, Verloes A, Vamos E. Am J Med Genet. 1997;73(1):55-60. |
| Microcephaly Syndactyly Short palpebral fissure | ||
| Adult Congenital Foot Deformity Congenital Hand Deformities Duodenal Diseases Esophageal Atresia Face Females Homo sapiens Infant, Newborn Male Syndrome | ||
| 8 (54.4%) |
11471162 |
Evidence for the "midline" hypothesis in associated defects of laterality formation and multiple midline anomalies. Gilbert-Barness E, Debich-Spicer D, Cohen MM Jr, Opitz JM. Am J Med Genet. 2001;101(4):382-7. |
| Microcephaly Tapered finger Proboscis | ||
| BMP4 FGF2 TGFB1 WNT1 | ||
| Craniofacial Abnormalities Fatal Outcome Functional Laterality Gene Expression Regulation, Developmental Homo sapiens Infant, Newborn Male Mutation Scrotum | ||
| 9 (52.4%) |
10905665 |
Vertebral anomalies in a new family with ODED syndrome. Piersall LD, Dowton SB, McAlister WH, Waggoner DJ. Clin Genet. 2000;57(6):444-8. |
| Microcephaly Abnormality of the hand | ||
| Bone and Bones Congenital Foot Deformity Congenital Hand Deformities Duodenal Diseases Females Genes, Dominant Homo sapiens Infant Infant, Newborn Male Microcephaly Syndrome Tracheoesophageal Fistula | ||
| 10 (52.1%) |
7069749 |
De novo interstitial deletion in the long arm of chromosome 9: a new chromosome syndrome. Ying KL, Curry CJ, Rajani KB, Kassel SH, Sparkes RS. J Med Genet. 1982;19(1):68-70. |
| Toe syndactyly Narrow palpebral fissure | ||
| Chromosome Deletion Chromosomes, Human, 6-12 and X Hirsutism Homo sapiens Infant, Newborn Male Phenotype |
Total: 5
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001561 | Polyhydramnios | Very frequent (99-80%) |
| HP:0002247 | Duodenal atresia | Very frequent (99-80%) |
| HP:0001732 | Abnormality of the pancreas | Occasional (29-5%) |
| HP:0001734 | Annular pancreas | Occasional (29-5%) |
| HP:0004414 | Abnormality of the pulmonary artery | Occasional (29-5%) |
Total: 112
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000252 | Microcephaly | 11 |
| HP:0005912 | Biliary atresia | 11 |
| HP:0002575 | Tracheoesophageal fistula | 10 |
| HP:0002566 | Intestinal malrotation | 7 |
| HP:0001748 | Polysplenia | 5 |
| HP:0002580 | Volvulus | 5 |
| HP:0001561 | Polyhydramnios | 4 |
| HP:0002617 | Dilatation | 4 |
| HP:0011102 | Ileal atresia | 4 |
| HP:0012745 | Short palpebral fissure | 4 |
| HP:0000047 | Hypospadias | 3 |
| HP:0001159 | Syndactyly | 3 |
| HP:0001629 | Ventricular septal defect | 3 |
| HP:0001746 | Asplenia | 3 |
| HP:0002013 | Vomiting | 3 |
| HP:0002023 | Anal atresia | 3 |
| HP:0004399 | Congenital pyloric atresia | 3 |
| HP:0005214 | Intestinal obstruction | 3 |
| HP:0000238 | Hydrocephalus | 2 |
| HP:0001081 | Cholelithiasis | 2 |
| HP:0001155 | Abnormality of the hand | 2 |
| HP:0001607 | Subglottic stenosis | 2 |
| HP:0001735 | Acute pancreatitis | 2 |
| HP:0002576 | Intussusception | 2 |
| HP:0002589 | Gastrointestinal atresia | 2 |
| HP:0004322 | Short stature | 2 |
| HP:0004383 | Hypoplastic left heart | 2 |
| HP:0008750 | Laryngeal atresia | 2 |
| HP:0012385 | Camptodactyly | 2 |
| HP:0100790 | Hernia | 2 |
| HP:0000014 | Abnormality of the bladder | 1 |
| HP:0000048 | Bifid scrotum | 1 |
| HP:0000054 | Micropenis | 1 |
| HP:0000085 | Horseshoe kidney | 1 |
| HP:0000107 | Renal cyst | 1 |
| HP:0000133 | Gonadal dysgenesis | 1 |
| HP:0000256 | Macrocephaly | 1 |
| HP:0000347 | Micrognathia | 1 |
| HP:0000476 | Cystic hygroma | 1 |
| HP:0000486 | Strabismus | 1 |
| HP:0000528 | Anophthalmia | 1 |
| HP:0000708 | Behavioral abnormality | 1 |
| HP:0000717 | Autism | 1 |
| HP:0000796 | Urethral obstruction | 1 |
| HP:0000819 | Diabetes mellitus | 1 |
| HP:0000822 | Hypertension | 1 |
| HP:0000952 | Jaundice | 1 |
| HP:0001007 | Hirsutism | 1 |
| HP:0001028 | Hemangioma | 1 |
| HP:0001080 | Biliary tract abnormality | 1 |
| HP:0001082 | Cholecystitis | 1 |
| HP:0001182 | Tapered finger | 1 |
| HP:0001217 | Clubbing | 1 |
| HP:0001305 | Dandy-Walker malformation | 1 |
| HP:0001388 | Joint laxity | 1 |
| HP:0001394 | Cirrhosis | 1 |
| HP:0001396 | Cholestasis | 1 |
| HP:0001409 | Portal hypertension | 1 |
| HP:0001540 | Diastasis recti | 1 |
| HP:0001562 | Oligohydramnios | 1 |
| HP:0001602 | Laryngeal stenosis | 1 |
| HP:0001643 | Patent ductus arteriosus | 1 |
| HP:0001822 | Hallux valgus | 1 |
| HP:0001873 | Thrombocytopenia | 1 |
| HP:0001909 | Leukemia | 1 |
| HP:0002027 | Abdominal pain | 1 |
| HP:0002036 | Hiatus hernia | 1 |
| HP:0002119 | Ventriculomegaly | 1 |
| HP:0002240 | Hepatomegaly | 1 |
| HP:0002248 | Hematemesis | 1 |
| HP:0002249 | Melena | 1 |
| HP:0002308 | Arnold-Chiari malformation | 1 |
| HP:0002335 | Agenesis of cerebellar vermis | 1 |
| HP:0002514 | Cerebral calcification | 1 |
| HP:0002779 | Tracheomalacia | 1 |
| HP:0002780 | Bronchomalacia | 1 |
| HP:0002904 | Hyperbilirubinemia | 1 |
| HP:0002944 | Thoracolumbar scoliosis | 1 |
| HP:0002948 | Vertebral fusion | 1 |
| HP:0003762 | Uterus didelphys | 1 |
| HP:0003974 | Absent radius | 1 |
| HP:0004401 | Meconium ileus | 1 |
| HP:0004961 | Pulmonary artery sling | 1 |
| HP:0005387 | Combined immunodeficiency | 1 |
| HP:0006270 | Hypoplastic spleen | 1 |
| HP:0006280 | Chronic pancreatitis | 1 |
| HP:0006882 | Severe hydrocephalus | 1 |
| HP:0007115 | Orbital encephalocele | 1 |
| HP:0007898 | Exudative retinopathy | 1 |
| HP:0008743 | Coronal hypospadias | 1 |
| HP:0009110 | Diaphragmatic eventration | 1 |
| HP:0010775 | Vascular ring | 1 |
| HP:0011565 | Common atrium | 1 |
| HP:0011604 | Aortopulmonary window | 1 |
| HP:0012732 | Anorectal anomaly | 1 |
| HP:0012806 | Proboscis | 1 |
| HP:0025116 | Fetal distress | 1 |
| HP:0025489 | Bladder duplication | 1 |
| HP:0030151 | Cholangitis | 1 |
| HP:0030707 | Unilateral lung agenesis | 1 |
| HP:0030853 | Heterotaxy | 1 |
| HP:0031368 | Intestinal perforation | 1 |
| HP:0031853 | Isomerism | 1 |
| HP:0100027 | Recurrent pancreatitis | 1 |
| HP:0100258 | Preaxial polydactyly | 1 |
| HP:0100333 | Unilateral cleft lip | 1 |
| HP:0100632 | Pulmonary sequestration | 1 |
| HP:0100682 | Tracheal atresia | 1 |
| HP:0100753 | Schizophrenia | 1 |
| HP:0100806 | Sepsis | 1 |
| HP:0100841 | Microgastria | 1 |
| HP:0100867 | Duodenal stenosis | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|