| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (66.3%) |
2624255 |
Interstitial deletion 2q14q21. Frydman M, Steinberger J, Shabtai F, Katznelson MB, Varsano I. Am J Med Genet. 1989;34(4):476-9. |
| Narrow forehead Long philtrum Micrognathia | ||
| IL1A | ||
| Adult Child, Preschool Chromosome Banding Chromosome Deletion Chromosome Mapping Chromosomes, Human, Pair 2 Females Homo sapiens Infant Interleukin-1 Phenotype X-Ray Computed Tomography | ||
| 2 (56.4%) |
7617402 |
Peters'-Plus syndrome: report on an unusual case. Camera G, Pozzolo S, Carta M, Righi E. Pathologica. 1994;86(6):673-5. |
| Broad nasal tip Long eyelashes Brachydactyly | ||
| Child Cleft Palate Eye Abnormalities Homo sapiens Male Syndrome | ||
| 3 (44.7%) |
16957485 |
Neuhauser syndrome and Peters' anomaly. Yarar C, Yakut A, Yildirim N, Yildiz B, Basmak H. Clin Dysmorphol. 2006;15(4):249-51. |
| Microcephaly Epicanthus | ||
| Congenital Heart Defects Cornea Craniofacial Abnormalities Homo sapiens Infant Intellectual Disability Male Microcephaly Syndrome | ||
| 4 (43.6%) |
4069583 |
Abnormal centromere-chromatid apposition (ACCA) and Peters' anomaly. Wertelecki W, Dev VG, Superneau DW. Ophthalmic Paediatr Genet. 1985;6(1-2):247-55. |
| Tetraphocomelia | ||
| Centromere Chromatids Chromosome Aberrations Chromosome Banding Corneal Opacity Homo sapiens Male Syndrome | ||
| 5 (43.1%) |
10406670 |
Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation. Okajima K, Robinson LK, Hart MA, Abuelo DN, Cowan LS, Hasegawa T, Maumenee IH, Jabs EW. Am J Med Genet. 1999;85(2):160-70. |
| Choanal stenosis Shallow orbits | ||
| FGFR2 | ||
| p|SUB|S|351|C;RS#:121918502 rs121918502 | ||
| Acrocephalosyndactylia Craniosynostosis Differential Diagnosis Fibroblast Growth Factor Receptor 2 Fibroblast Growth Factor Receptors Homo sapiens Infant Limb Deformities, Congenital Male Mutation Phenotype Receptor Protein-Tyrosine Kinases Syndrome | ||
| 6 (39.8%) |
2787011 |
Ocular findings in a 4 p- deletion syndrome (Wolf-Hirschhorn). Mayer UM, Bialasiewicz AA. Ophthalmic Paediatr Genet. 1989;10(1):69-72. |
| Inguinal hernia Epicanthus | ||
| Autoradiography Cataract Chromosome Deletion Chromosomes, Human, Pair 4 DNA Endophthalmitis Follow-Up Studies Homo sapiens Infant, Newborn Male Syndrome | ||
| 7 (39.0%) |
26059676 |
Peters anomaly in cri-du-chat syndrome. Hope WC, Cordovez JA, Capasso JE, Hammersmith KM, Eagle RC, Lall-Trail J, Levin AV. J AAPOS. 2015;19(3):277-9. |
| Microcephaly | ||
| Chromosome Deletion Chromosomes, Human, Pair 5 Cornea Corneal Diseases Corneal Opacity Cri-du-Chat Syndrome Developmental Disabilities Eye Abnormalities Females Homo sapiens Infant Microcephaly Microscopy, Acoustic Retinal Dysplasia | ||
| 7 (39.0%) |
23990702 (3748794) |
Spontaneous corneal perforation in an eye with Peters' anomaly. Kim M, Lee SC, Lee SJ. Clin Ophthalmol. 2013;7:1535-7. |
| Microcephaly | ||
| 7 (39.0%) |
11822709 |
Possible new syndrome of microcephaly with cortical migration defects, Peters anomaly and multiple intestinal atresias: a multiple vascular disruption syndrome. Shanske AL, Gurland JE, Mbekeani JN, Bello JA, Campbell D, Kleinhaus S. Clin Dysmorphol. 2002;11(1):67-9. |
| Microcephaly | ||
| Cardiovascular Abnormalities Cell Movement Homo sapiens Infant, Newborn Intestines Male Microcephaly | ||
| 7 (39.0%) |
3096371 |
Warburg (HARD +/- E) syndrome without retinal dysplasia: case report and review. Attia MF, Burn J, McCarthy JH, Purohit DP, Milligan DW. Br J Ophthalmol. 1986;70(10):742-7. |
| Encephalocele | ||
| Eye Eye Abnormalities Homo sapiens Hydrocephalus Infant, Newborn Male Retinal Degeneration Syndrome |
Total: 9
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000659 | Peters anomaly | Obligate (100%) |
| HP:0000523 | Subcapsular cataract | Very frequent (99-80%) |
| HP:0007759 | Opacification of the corneal stroma | Very frequent (99-80%) |
| HP:0011483 | Anterior synechiae of the anterior chamber | Very frequent (99-80%) |
| HP:0011493 | Central opacification of the cornea | Very frequent (99-80%) |
| HP:0031159 | Thinning of Descemet membrane | Very frequent (99-80%) |
| HP:0001087 | Developmental glaucoma | Frequent (79-30%) |
| HP:0000486 | Strabismus | Very rare (4-1%) |
| HP:0000639 | Nystagmus | Very rare (4-1%) |
Total: 50
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000518 | Cataract | 13 |
| HP:0007957 | Corneal opacity | 13 |
| HP:0000526 | Aniridia | 7 |
| HP:0000568 | Microphthalmia | 6 |
| HP:0000482 | Microcornea | 5 |
| HP:0030855 | Anterior staphyloma | 5 |
| HP:0000647 | Sclerocornea | 4 |
| HP:0100583 | Corneal perforation | 4 |
| HP:0000589 | Coloboma | 3 |
| HP:0004322 | Short stature | 3 |
| HP:0000238 | Hydrocephalus | 2 |
| HP:0000252 | Microcephaly | 2 |
| HP:0000501 | Glaucoma | 2 |
| HP:0000527 | Long eyelashes | 2 |
| HP:0000609 | Optic nerve hypoplasia | 2 |
| HP:0001156 | Brachydactyly | 2 |
| HP:0001508 | Failure to thrive | 2 |
| HP:0007707 | Congenital aphakia | 2 |
| HP:0007973 | Retinal dysplasia | 2 |
| HP:0000286 | Epicanthus | 1 |
| HP:0000311 | Round face | 1 |
| HP:0000337 | Broad forehead | 1 |
| HP:0000455 | Broad nasal tip | 1 |
| HP:0000485 | Megalocornea | 1 |
| HP:0000506 | Telecanthus | 1 |
| HP:0000509 | Conjunctivitis | 1 |
| HP:0000541 | Retinal detachment | 1 |
| HP:0000563 | Keratoconus | 1 |
| HP:0000565 | Esotropia | 1 |
| HP:0000567 | Chorioretinal coloboma | 1 |
| HP:0000594 | Shallow anterior chamber | 1 |
| HP:0000627 | Posterior embryotoxon | 1 |
| HP:0000639 | Nystagmus | 1 |
| HP:0000646 | Amblyopia | 1 |
| HP:0000819 | Diabetes mellitus | 1 |
| HP:0001134 | Anterior polar cataract | 1 |
| HP:0001643 | Patent ductus arteriosus | 1 |
| HP:0001662 | Bradycardia | 1 |
| HP:0002045 | Hypothermia | 1 |
| HP:0002615 | Hypotension | 1 |
| HP:0003498 | Disproportionate short stature | 1 |
| HP:0005617 | Bilateral camptodactyly | 1 |
| HP:0006934 | Congenital nystagmus | 1 |
| HP:0007633 | Bilateral microphthalmos | 1 |
| HP:0010442 | Polydactyly | 1 |
| HP:0011485 | Corneolenticular adhesion | 1 |
| HP:0012108 | Open angle glaucoma | 1 |
| HP:0025356 | Psychomotor retardation | 1 |
| HP:0025514 | Morning glory anomaly | 1 |
| HP:0030666 | Retinal neovascularization | 1 |