| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (45.7%) |
110207 |
Congenital nonprogressive facial hemiatrophy with ipsilateral eye abnormalities and juvenile glaucoma. Cohen JS. Ann Ophthalmol. 1979;11(3):413-6. |
| Hemiatrophy | ||
| Animals Child Diabetes Mellitus, Insulin-Dependent Eye Abnormalities Facial Hemiatrophy Females Glaucoma Homo sapiens Male Optic Nerve Pupil | ||
| 2 (30.8%) |
20676730 |
Congenital iris ectropion associated with juvenile glaucoma. Seymenoglu G, Baser E. Int Ophthalmol. 2011;31(1):33-8. |
| Glaucoma Ectropion | ||
| Child Ectropion Females Glaucoma Homo sapiens Trabeculectomy Visual Fields | ||
| 2 (30.8%) |
19213275 |
Congenital iris ectropion associated with juvenile glaucoma. Monaco G, Franceschin S, Cacioppo V, Simonetta S, Ratiglia R. J Pediatr Ophthalmol Strabismus. 2009;46(1):35-7. |
| Blindness Ectropion | ||
| Anisocoria Child Ectropion Females Glaucoma Homo sapiens Pigment Epithelium of Eye Tomography, Optical Coherence Trabeculectomy X-Ray Computed Tomography | ||
| 2 (30.8%) |
17653043 (2776537) |
Novel mutations in the FOXC1 gene in Japanese patients with Axenfeld-Rieger syndrome. Fuse N, Takahashi K, Yokokura S, Nishida K. Mol Vis. 2007;13:1005-9. |
| Hypertelorism Telecanthus | ||
| NEUROD1 RIEG2 | ||
| p|SUB|A|85|P | ||
| Adult Asians Base Sequence Child, Preschool Eye Abnormalities Females Forkhead Transcription Factors Gene Deletion Genes, Dominant Homo sapiens Missense Mutation Phenotype Syndrome Tertiary Protein Structure | ||
| 2 (30.8%) |
15627836 |
Presence of the R1748X mutation in the NF1 gene in a Brazilian patient with ectropion uveae. Trovo-Marqui AB, Goloni-Bertollo EM, Teixeira MF, Tajara EH. Ophthalmic Res. 2004;36(6):349-52. |
| Glaucoma Ectropion | ||
| NF1 | ||
| p|SUB|R|1748|X rs876657714 | ||
| DNA Mutational Analysis Ectropion Females Homo sapiens Middle Aged Mutation Neurofibromatosis 1 Neurofibromatosis Type 1 Protein Polymerase Chain Reaction Single-Stranded Conformational Polymorphism Uveal Diseases | ||
| 2 (30.8%) |
12369440 |
[Diagnostic image (106). A girl with blurred vision. Unilateral juvenile glaucoma with ectropion uveae]. Nobacht S, Cruysberg JR. Ned Tijdschr Geneeskd. 2002;146(38):1785. |
| Blurred vision Ectropion | ||
| Child Ectropion Females Glaucoma Homo sapiens Trabeculectomy | ||
| 2 (30.8%) |
6887749 |
[Rubinstein-Taybi syndrome and juvenile glaucoma]. Weber U, Bernsmeier H. Klin Monbl Augenheilkd. 1983;183(1):47-9. |
| Epicanthus | ||
| Child Females Glaucoma Homo sapiens Rubinstein-Taybi Syndrome | ||
| 2 (30.8%) |
3936868 |
[Congenital ectropion of the iris epithelium and glaucoma]. Bechetoille A, Ebran JM, Bigorgne J. J Fr Ophtalmol. 1985;8(8-9):529-34. |
| Glaucoma Ectropion | ||
| Blepharoptosis Child Ectropion Eyelid Neoplasms Glaucoma Homo sapiens Male Neural Crest Neurofibromatosis 1 Pigment Epithelium of Eye Syndrome | ||
| 9 (27.8%) |
105118 |
Rieger's syndrome: (oligodontia and primary mesodermal dysgenesis of the iris) clinical features and report of an isolated case. Wesley RK, Baker JD, Golnick AL. J Pediatr Ophthalmol Strabismus. 1978;15(2):67-70. |
| Hypodontia | ||
| Child Child, Preschool Cornea Eye Abnormalities Females Homo sapiens Infant Infant, Newborn Pregnancy Pupil Strabismus Syndrome Tooth Abnormalities | ||
| 10 (21.2%) |
29193925 |
Klinefelter Syndrome (49, XXXXY/48, XXXY) associated with narrow angle glaucoma: A case report. Ulloa-Padilla EP, Davila PJ, Izquierdo NJ. Bol Asoc Med P R. 2016;108(1):85-90. |
| Hypogonadism Osteoporosis | ||
| Adult Angle Closure Glaucoma Antihypertensive Agents Homo sapiens Klinefelter Syndrome Male Ocular Hypertension Puerto Rico Visual Fields |
Total: 15
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000505 | Visual impairment | Frequent (79-30%) |
| HP:0000525 | Abnormality iris morphology | Frequent (79-30%) |
| HP:0000587 | Abnormality of the optic nerve | Frequent (79-30%) |
| HP:0000593 | Abnormal anterior chamber morphology | Frequent (79-30%) |
| HP:0001138 | Optic neuropathy | Frequent (79-30%) |
| HP:0007854 | Glaucomatous visual field defect | Frequent (79-30%) |
| HP:0007906 | Ocular hypertension | Frequent (79-30%) |
| HP:0007994 | Peripheral visual field loss | Frequent (79-30%) |
| HP:0012108 | Open angle glaucoma | Frequent (79-30%) |
| HP:0011003 | High myopia | Occasional (29-5%) |
| HP:0012511 | Temporal optic disc pallor | Occasional (29-5%) |
| HP:0012796 | Increased cup-to-disc ratio | Occasional (29-5%) |
| HP:0000603 | Central scotoma | Very rare (4-1%) |
| HP:0012636 | Retinal vein occlusion | Very rare (4-1%) |
| HP:0025326 | Retinal arterial occlusion | Very rare (4-1%) |
Total: 18
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000501 | Glaucoma | 6 |
| HP:0000656 | Ectropion | 5 |
| HP:0012108 | Open angle glaucoma | 4 |
| HP:0000508 | Ptosis | 2 |
| HP:0000518 | Cataract | 2 |
| HP:0000545 | Myopia | 2 |
| HP:0000488 | Retinopathy | 1 |
| HP:0000646 | Amblyopia | 1 |
| HP:0000648 | Optic atrophy | 1 |
| HP:0000819 | Diabetes mellitus | 1 |
| HP:0000873 | Diabetes insipidus | 1 |
| HP:0001115 | Posterior polar cataract | 1 |
| HP:0002617 | Dilatation | 1 |
| HP:0009916 | Anisocoria | 1 |
| HP:0011003 | High myopia | 1 |
| HP:0025356 | Psychomotor retardation | 1 |
| HP:0100556 | Hemiatrophy | 1 |
| HP:0500074 | Dissociated vertical deviation | 1 |