| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 9 (30.8%) |
23880977 |
Incidence of bilateral Marcus Gunn jaw-wink. Sobel RK, Allen RC. Ophthalmic Plast Reconstr Surg. 2014;30(3):e54-5. |
| Eyelid retraction | ||
| Blepharoptosis Child, Preschool Congenital Heart Defects Females Homo sapiens Incidence Jaw Abnormalities Ophthalmologic Surgical Procedures Reflex, Abnormal Vision, Binocular | ||
| 9 (30.8%) |
23381566 |
Bilateral Candida and atypical mycobacterial infection after frontalis sling suspension with silicone rod to correct congenital ptosis. Davies BW, Bratton EM, Durairaj VD, Hink EM. Ophthalmic Plast Reconstr Surg. 2013;29(4):e111-3. |
| Blepharophimosis | ||
| Blepharophimosis Candidiasis Child, Preschool Eye Infections, Bacterial Females Homo sapiens Mycobacterium Infections, Nontuberculous Mycobacterium chelonae Prostheses and Implants Silicone Elastomers Surgical Wound Infection Suture Techniques | ||
| 9 (30.8%) |
19606162 |
Adult-onset exposure keratitis after childhood ptosis repair with frontalis sling procedure. Dollin M, Oestreicher JH. Can J Ophthalmol. 2009;44(4):412-6. |
| Strabismus Entropion | ||
| Adult Blepharoptosis Facial Muscles Females Homo sapiens Keratitis Male Middle Aged Ophthalmic Solution Ophthalmologic Surgical Procedures Postoperative Complications Retrospective Studies Strabismus Young Adult | ||
| 9 (30.8%) |
10511215 |
Transconjunctival frontalis suspension: a clinical evaluation. Loff HJ, Wobig JL, Dailey RA. Ophthalmic Plast Reconstr Surg. 1999;15(5):349-54. |
| Ptosis Blepharophimosis | ||
| Blepharoptosis Child Child, Preschool Facial Muscles Females Follow-Up Studies Homo sapiens Male Ophthalmologic Surgical Procedures Retrospective Studies | ||
| 9 (30.8%) |
9546834 |
Congenital ptosis and blepharophimosis in a mentally retarded girl: a new case of Ohdo syndrome? Rasmussen M, Stromme P. Clin Dysmorphol. 1998;7(1):61-3. |
| Ptosis Blepharophimosis | ||
| Blepharophimosis Blepharoptosis Child, Preschool External Ear Females Homo sapiens Intellectual Disability Pregnancy Syndrome Tooth Abnormalities | ||
| 16 (29.2%) |
7891979 |
Bilateral diffuse iris nodular nevi. Clinical and histopathologic characterization. Ticho BH, Rosner M, Mets MB, Tso MO. Ophthalmology. 1995;102(3):419-25. |
| Cataract Lisch nodules | ||
| Blepharoptosis Cataract Child Child, Preschool Corneal Opacity Eyelid Neoplasms Females Homo sapiens Iris Neoplasms Male Neurofibromatoses Skin Neoplasms | ||
| 17 (26.3%) |
17701103 |
Ocular manifestations in Kabuki syndrome: the first report from Saudi Arabia. Chaudhry IA, Shamsi FA, Alkuraya HS, Al-Sharif A. Int Ophthalmol. 2008;28(2):131-4. |
| Depressed nasal tip | ||
| Child, Preschool Eye Abnormalities Face Females Homo sapiens Intellectual Disability Syndrome | ||
| 18 (23.3%) |
26691049 |
Congenital ptosis, scoliosis, and malignant hyperthermia susceptibility in siblings with recessive RYR1 mutations. AlBakri A, Karaoui M, Alkuraya FS, Khan AO. J AAPOS. 2015;19(6):577-9. |
| Ptosis Scoliosis | ||
| RYR1 | ||
| Blepharoptosis Child Child, Preschool Females Genes, Recessive Homo sapiens Male Mutation Ryanodine Receptor Calcium Release Channel Sibling | ||
| 19 (21.2%) |
15702131 |
Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion. Bremond-Gignac D, Crolla JA, Copin H, Guichet A, Bonneau D, Taine L, Lacombe D, Baumann C, Benzacken B, Verloes A. Eur J Hum Genet. 2005;13(4):409-13. |
| Cataract Multiple exostoses | ||
| ALX4 EXT2 PAX6 PRPF31 WT1 | ||
| Adult Chromosome Mapping Chromosomes, Human, Pair 11 Craniofacial Dysostosis Females Gene Deletion Hereditary Multiple Exostoses Homo sapiens Obesity Syndrome WAGR Syndrome | ||
| 20 (17.5%) |
30051000 (6058058) |
Isolated left upper eyelid ptosis with pansinusitis and contralateral otitis media in a 9-year-old boy. Wilbanks ND, Filutowski OR, Maldonado MD, Karcioglu ZA. Am J Ophthalmol Case Rep. 2018;11:6-9. |
| Otitis media Cellulitis | ||
| NT5C3A | ||
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 |