| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (65.7%) |
337922 |
[Aglossia-adactylia with jejunal atresia]. Bury F, Willekens H, de Waele P, Marchal G, Kerremans R, Eggermont E. Arch Fr Pediatr. 1977;34(7):604-10. |
| Adactyly Aglossia | ||
| Females Fingers Homo sapiens Infant, Newborn Intestinal Atresia Jejunum Male Polyhydramnios Pregnancy Syndrome Toes Tongue Ultrasonography | ||
| 2 (39.0%) |
28407396 |
A further family of Stromme syndrome carrying CENPF mutation. Ozkinay F, Atik T, Isik E, Gormez Z, Sagiroglu M, Sahin OA, Corduk N, Onay H. Am J Med Genet A. 2017;173(6):1668-1672. |
| Microcephaly | ||
| CENPF | ||
| c|INS|5912_5913|A;RS#:757531591 p|FS|T|1974|N|9;RS#:757531591 | ||
| Base Sequence Chromosomal Proteins, Non-Histone Eye Abnormalities Females Homo sapiens Homozygote Infant Intestinal Atresia Microcephaly Microfilament Proteins Mutation Sibling | ||
| 2 (39.0%) |
20219704 |
Jejunal atresia and anterior chamber anomalies: Further delineation of the Stromme syndrome. Castori M, Laino L, Briganti V, Pedace L, Zampini A, Marconi M, Grammatico B, Buffone E, Grammatico P. Eur J Med Genet. 2010;53(3):149-52. |
| Microcephaly | ||
| Developmental Disabilities Eye Eye Abnormalities Females Homo sapiens Infant Intestinal Atresia Microcephaly Syndrome | ||
| 2 (39.0%) |
14994240 |
Microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversal. Keegan CE, Vilain E, Mohammed M, Lehoczky J, Dobyns WB, Archer SM, Innis JW. Am J Med Genet A. 2004;125A(3):293-8. |
| Microcephaly | ||
| AR | ||
| Androgen Receptor Bronchi Dihydrotestosterone Disorders of Sex Development Eye Abnormalities Gene Dosage Gonadal Dysgenesis, 46,XY Homo sapiens Infant Intestinal Atresia Jejunum Male Microcephaly Polymerase Chain Reaction Testis | ||
| 2 (39.0%) |
8261651 |
Apple peel intestinal atresia in siblings with ocular anomalies and microcephaly. Stromme P, Dahl E, Flage T, Stene-Johansen H. Clin Genet. 1993;44(4):208-10. |
| Microcephaly | ||
| rs200976140 | ||
| Duodenum Family Females Homo sapiens Infant, Newborn Intestinal Atresia Intestinal Obstruction Jejunum Microcephaly Microphthalmos Syndrome | ||
| 6 (32.1%) |
8737650 |
CVS-exposed limb deficiency defects with or without other birth defects: presentation of six cases born during a period of nine years. Chen CP, Liu FF, Jan SW, Lin SP, Lan CC. Am J Med Genet. 1996;63(3):447-53. |
| Intestinal obstruction Cleft lip | ||
| Adult Chorionic Villi Sampling Congenital Foot Deformity Congenital Hand Deformities Females Homo sapiens Infant, Newborn Limb Deformities, Congenital Male Mandible Pregnancy | ||
| 7 (31.0%) |
8723105 |
Asymmetrical coronal synostosis, cutaneous syndactyly of the fingers and toes, and jejunal atresia in a male infant. Pfeiffer RA, Rinnert S, Popp R, Rockelein G. Am J Med Genet. 1996;63(1):175-6. |
| Syndactyly | ||
| Acrocephalosyndactylia Dermatoglyphics Females Fingers Follow-Up Studies Functional Laterality Homo sapiens Infant, Newborn Intestinal Atresia Jejunum Male Nuclear Family Skin Abnormalities Syndrome Toes | ||
| 8 (17.5%) |
15057985 |
Club feet with congenital perisylvian polymicrogyria possibly due to bifocal ischemic damage of the neuraxis in utero. Kammoun F, Tanguy A, Boesplug-Tanguy O, Bensahel H, Khouri N, Landrieu P. Am J Med Genet A. 2004;126A(2):191-6. |
| Dysarthria Scarring | ||
| Adult Child Child, Preschool Dysarthria Epilepsy Females Homo sapiens Intellectual Disability Ischemia Magnetic Resonance Imaging Male | ||
| 8 (17.5%) |
10360400 |
Microdeletion of chromosome sub-band 2q37.3 in two patients with abnormal situs viscerum. Reddy KS, Flannery D, Farrer RJ. Am J Med Genet. 1999;84(5):460-8. |
| Hernia | ||
| Adult Child Child, Preschool Chromosome Banding Chromosome Deletion Chromosomes, Human, Pair 2 Females Fluorescent in Situ Hybridization Homo sapiens Infant Male Situs Inversus | ||
| 8 (17.5%) |
6663401 |
Situs inversus: the complex inducing neonatal intestinal obstruction. Ruben GD, Templeton JM Jr, Ziegler MM. J Pediatr Surg. 1983;18(6):751-6. |
| Volvulus Hernia | ||
| Child Child, Preschool Females Homo sapiens Infant Infant, Newborn Intestinal Obstruction Male Situs Inversus |
Total: 10
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0005245 | Intestinal hypoplasia | Very frequent (99-80%) |
| HP:0001508 | Failure to thrive | Frequent (79-30%) |
| HP:0001511 | Intrauterine growth retardation | Frequent (79-30%) |
| HP:0002013 | Vomiting | Frequent (79-30%) |
| HP:0002566 | Intestinal malrotation | Frequent (79-30%) |
| HP:0003270 | Abdominal distention | Frequent (79-30%) |
| HP:0004322 | Short stature | Frequent (79-30%) |
| HP:0005235 | Jejunal atresia | Frequent (79-30%) |
| HP:0011968 | Feeding difficulties | Frequent (79-30%) |
| HP:0025015 | Abnormal vascular morphology | Frequent (79-30%) |
Total: 41
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0002580 | Volvulus | 13 |
| HP:0002576 | Intussusception | 6 |
| HP:0002617 | Dilatation | 6 |
| HP:0005214 | Intestinal obstruction | 4 |
| HP:0011100 | Intestinal atresia | 4 |
| HP:0011102 | Ileal atresia | 4 |
| HP:0001541 | Ascites | 3 |
| HP:0004387 | Enterocolitis | 3 |
| HP:0004388 | Microcolon | 3 |
| HP:0004401 | Meconium ileus | 3 |
| HP:0005912 | Biliary atresia | 3 |
| HP:0100790 | Hernia | 3 |
| HP:0000252 | Microcephaly | 2 |
| HP:0002566 | Intestinal malrotation | 2 |
| HP:0004399 | Congenital pyloric atresia | 2 |
| HP:0005234 | Neonatal intestinal obstruction | 2 |
| HP:0010866 | Abdominal wall defect | 2 |
| HP:0030717 | Meconium peritonitis | 2 |
| HP:0000054 | Micropenis | 1 |
| HP:0000485 | Megalocornea | 1 |
| HP:0000956 | Acanthosis nigricans | 1 |
| HP:0001511 | Intrauterine growth retardation | 1 |
| HP:0001748 | Polysplenia | 1 |
| HP:0002013 | Vomiting | 1 |
| HP:0002024 | Malabsorption | 1 |
| HP:0002586 | Peritonitis | 1 |
| HP:0002589 | Gastrointestinal atresia | 1 |
| HP:0002595 | Ileus | 1 |
| HP:0002904 | Hyperbilirubinemia | 1 |
| HP:0004322 | Short stature | 1 |
| HP:0005268 | Spontaneous abortion | 1 |
| HP:0005387 | Combined immunodeficiency | 1 |
| HP:0009776 | Adactyly | 1 |
| HP:0011286 | Total colonic aganglionosis | 1 |
| HP:0012245 | Sex reversal | 1 |
| HP:0012730 | Aglossia | 1 |
| HP:0025023 | Rectal atresia | 1 |
| HP:0030451 | Mesenteric cyst | 1 |
| HP:0031368 | Intestinal perforation | 1 |
| HP:0100867 | Duodenal stenosis | 1 |
| HP:0410030 | Cleft lip | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|