| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (70.5%) |
25493098 (4260201) |
16p13.3 duplication associated with non-syndromic pierre robin sequence with incomplete penetrance. Sun M, Zhang H, Li G, Wang X, Lu X, Sternenberger A, Guy C, Li W, Lee J, Zheng L, Li S. Mol Cytogenet. 2014;7(1):76. |
| Pierre-Robin sequence Micrognathia Short finger | ||
| CREBBP | ||
| 2 (67.3%) |
7735504 |
Specific acromesomelia with facial and renal anomalies: a new syndrome. Pfeiffer RA, Hirschfelder H, Rott HD. Clin Dysmorphol. 1995;4(1):38-43. |
| Telecanthus Brachydactyly Acromesomelia | ||
| Blepharoptosis Face Homo sapiens Kidney Limb Deformities, Congenital Male Syndrome | ||
| 3 (57.3%) |
1227520 |
Probable Marden-Walker syndrome: evidence for autosomal recessive inheritance. Temtamy SA, Shoukry AS, Raafat M, Mihareb S. Birth Defects Orig Artic Ser. 1975;11(2):104-8. |
| Blepharophimosis Arachnodactyly Kyphoscoliosis | ||
| Child, Preschool Contracture Genes, Recessive Growth Disorders Homo sapiens Intellectual Disability Male Myopathy Phenotype Syndrome | ||
| 4 (39.8%) |
4011780 |
Acquired ptosis: a reexamination of etiology and treatment. Pearl RM. Plast Reconstr Surg. 1985;76(1):56-64. |
| Muscle weakness Dermatochalasis | ||
| Adult Blepharoptosis Females Homo sapiens Male Middle Aged | ||
| 4 (39.8%) |
3805595 |
[Suspension of the eyelid to the frontal muscle in the surgery of ptosis. Technic and indications]. Morax S, Benia L. J Fr Ophtalmol. 1986;9(6-7):461-70. |
| Blepharophimosis Myopathy | ||
| PICK1 | ||
| Blepharoptosis Child Child, Preschool Facial Muscles Females Forehead Homo sapiens Male Muscle Tissue Ophthalmoplegia Repeat Surgery | ||
| 6 (39.0%) |
16646034 |
WAGR(O?) syndrome and congenital ptosis caused by an unbalanced t(11;15)(p13;p11.2)dn demonstrating a 7 megabase deletion by FISH. Lennon PA, Scott DA, Lonsdorf D, Wargowski DS, Kirkpatrick S, Patel A, Cheung SW. Am J Med Genet A. 2006;140(11):1214-8. |
| Microcephaly | ||
| PAX6 WT1 | ||
| Blepharoptosis Chromosome Banding Chromosome Deletion Chromosomes, Human, Pair 11 Chromosomes, Human, Pair 15 Females Fluorescent in Situ Hybridization Homo sapiens Infant Obesity WAGR Syndrome | ||
| 7 (35.3%) |
10334404 |
Marin-Amat syndrome: case report and review of the literature. Pavone P, Garozzo R, Trifiletti RR, Parano E. J Child Neurol. 1999;14(4):266-8. |
| Facial palsy | ||
| Blepharoptosis Child Females Functional Laterality Homo sapiens Jaw Movement Peripheral Nerves Syndrome | ||
| 8 (31.0%) |
9220189 |
Non-haematological traits associated with congenital dyserythropoietic anaemia type 1: a new entity emerging. Sabry MA, Zaki M, al Awadi SA, al Saleh Q, Mattar MS. Clin Dysmorphol. 1997;6(3):205-12. |
| Syndactyly | ||
| rs587777100 | ||
| Blepharoptosis Bone and Bones Child, Preschool Females Growth Disorders Homo sapiens Infant Limb Deformities, Congenital Lymphocyte Male Mitosis Phenotype Syndrome | ||
| 9 (30.8%) |
28529498 (5418841) |
Eyelid Retraction in Isolated Unilateral Congenital Blepharoptosis. Salman MS, Clark IH. Front Neurol. 2017;8:190. |
| Eyelid retraction | ||
| 9 (30.8%) |
24952020 |
Marginal ectropion induced by conjunctival ingrowth after levator resection surgery. Kim CY, Oh E, Wu CZ, Yoon JS, Lee SY. Aesthetic Plast Surg. 2014;38(4):749-54. |
| Ptosis Ectropion | ||
| Blepharoptosis Child Ectropion Females Homo sapiens Male Postoperative Complications Young Adult |
Total: 0
| HPO ID | Term | Frequency |
|---|
Total: 45
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000508 | Ptosis | 10 |
| HP:0000526 | Aniridia | 5 |
| HP:0000581 | Blepharophimosis | 4 |
| HP:0000518 | Cataract | 3 |
| HP:0000565 | Esotropia | 2 |
| HP:0000577 | Exotropia | 2 |
| HP:0000646 | Amblyopia | 2 |
| HP:0003198 | Myopathy | 2 |
| HP:0003470 | Paralysis | 2 |
| HP:0000023 | Inguinal hernia | 1 |
| HP:0000086 | Ectopic kidney | 1 |
| HP:0000347 | Micrognathia | 1 |
| HP:0000482 | Microcornea | 1 |
| HP:0000486 | Strabismus | 1 |
| HP:0000501 | Glaucoma | 1 |
| HP:0000506 | Telecanthus | 1 |
| HP:0000567 | Chorioretinal coloboma | 1 |
| HP:0000568 | Microphthalmia | 1 |
| HP:0000639 | Nystagmus | 1 |
| HP:0000656 | Ectropion | 1 |
| HP:0000821 | Hypothyroidism | 1 |
| HP:0001137 | Alternating esotropia | 1 |
| HP:0001159 | Syndactyly | 1 |
| HP:0001324 | Muscle weakness | 1 |
| HP:0001488 | Bilateral ptosis | 1 |
| HP:0001513 | Obesity | 1 |
| HP:0001537 | Umbilical hernia | 1 |
| HP:0001629 | Ventricular septal defect | 1 |
| HP:0001822 | Hallux valgus | 1 |
| HP:0002047 | Malignant hyperthermia | 1 |
| HP:0002277 | Horner syndrome | 1 |
| HP:0002373 | Febrile seizures | 1 |
| HP:0002650 | Scoliosis | 1 |
| HP:0004322 | Short stature | 1 |
| HP:0007687 | Unilateral ptosis | 1 |
| HP:0009381 | Short finger | 1 |
| HP:0009926 | Epiphora | 1 |
| HP:0020041 | Double elevator palsy | 1 |
| HP:0025514 | Morning glory anomaly | 1 |
| HP:0030011 | Imperforate hymen | 1 |
| HP:0031721 | Sensory exotropia | 1 |
| HP:0031745 | Superior rectus muscle overaction | 1 |
| HP:0032252 | Granuloma | 1 |
| HP:0100658 | Cellulitis | 1 |
| HP:0500074 | Dissociated vertical deviation | 1 |