| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 28 (4.0%) |
11712631 |
Uncontrolled glaucoma secondary to an arteriovenous malformation in a Weill-Marchesani patient. Derose CJ, Jeffrey A. Optometry. 2001;72(10):641-8. |
| Glaucoma | ||
| Adult Ectopia Lentis Eye Abnormalities Females Glaucoma Growth Disorders Homo sapiens Lens Subluxation Syndrome | ||
| 28 (4.0%) |
11149617 |
Exclusion of chromosome 15q21.1 in autosomal-recessive Weill-Marchesani syndrome in an inbred Lebanese family. Megarbane A, Mustapha M, Bleik J, Waked N, Delague V, Loiselet J. Clin Genet. 2000;58(6):473-8. |
| Glaucoma | ||
| Adult Arthropathy Child Chromosomes, Human, Pair 15 Congenital Heart Defects Dwarfism Females Fibrillins Genes, Recessive Homo sapiens Male Microfilament Proteins Myopia Syndrome | ||
| 28 (4.0%) |
9719980 |
Capsular tension ring in a patient with Weill-Marchesani syndrome. Groessl SA, Anderson CJ. J Cataract Refract Surg. 1998;24(8):1164-5. |
| Cataract | ||
| Arthropathy Capsulorhexis Dwarfism Eye Abnormalities Females Homo sapiens Lens, Crystalline Ligaments Middle Aged Phacoemulsification Prostheses and Implants Syndrome Visual Acuity | ||
| 28 (4.0%) |
8913132 |
Weill-Marchesani syndrome complicated by secondary glaucoma. Case management with surgical lens extraction. Taylor JN. Aust N Z J Ophthalmol. 1996;24(3):275-8. |
| Glaucoma | ||
| Cataract Extraction Eye Abnormalities Females Glaucoma Growth Disorders Homo sapiens Lens, Crystalline Myopia Syndrome Visual Acuity | ||
| 28 (4.0%) |
7643490 |
Histopathological study of microspherophakia in the Weill-Marchesani syndrome. Nagata M, Takagi S, Yamasaki A, Tsunematsu S, Kumagami T, Itamochi C, Tamai A. Jpn J Ophthalmol. 1995;39(1):89-95. |
| Microspherophakia | ||
| RAN | ||
| Arthropathy Connective Tissue Diseases Ectopia Lentis Electron Microscopy Growth Disorders Homo sapiens Lens, Crystalline Male Scanning Electron Microscopy Syndrome | ||
| 28 (4.0%) |
6883192 |
Spherophakia in a Newfoundland family: 8 years' experience. Johnson GJ, Bosanquet RC. Can J Ophthalmol. 1983;18(4):159-64. |
| Myopia | ||
| Adult Child Congenital Foot Deformity Congenital Hand Deformities Females Homo sapiens Lens, Crystalline Male Myopia Ocular Hypertension Syndrome | ||
| 28 (4.0%) |
4032187 |
Weill-Marchesani syndrome with bilateral angle-closure glaucoma. Wright KW, Chrousos GA. J Pediatr Ophthalmol Strabismus. 1985;22(4):129-32. |
| Glaucoma | ||
| Body Constitution Child Fingers Glaucoma Homo sapiens Joints Male Metacarpus Syndrome | ||
| 28 (4.0%) |
2277226 |
The Weill-Marchesani syndrome: report of two cases and a review. Haik GM Sr, Terrell WL 3rd, Haik GM Jr. J La State Med Soc. 1990;142(12):25-8, 30-2. |
| Angle closure glaucoma | ||
| Adult Connective Tissue Diseases Females Homo sapiens Middle Aged Syndrome | ||
| 28 (4.0%) |
1640689 |
[Glaucoma attacks in Weill-Marchesani syndrome]. Czechowicz-Janicka K, Staszkiewicz J. Klin Oczna. 1992;94(2-3):76-7. |
| Glaucoma | ||
| Acute Disease Adult Ectopia Lentis Glaucoma Homo sapiens Male Myopia Syndrome Trabeculectomy |
Total: 16
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000501 | Glaucoma | Very frequent (99-80%) |
| HP:0001156 | Brachydactyly | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0009778 | Short thumb | Very frequent (99-80%) |
| HP:0011003 | High myopia | Very frequent (99-80%) |
| HP:0001072 | Thickened skin | Frequent (79-30%) |
| HP:0001083 | Ectopia lentis | Frequent (79-30%) |
| HP:0001376 | Limitation of joint mobility | Frequent (79-30%) |
| HP:0002564 | obsolete Malformation of the heart and great vessels | Frequent (79-30%) |
| HP:0000518 | Cataract | Occasional (29-5%) |
| HP:0000572 | Visual loss | Occasional (29-5%) |
| HP:0001256 | Intellectual disability, mild | Occasional (29-5%) |
| HP:0001629 | Ventricular septal defect | Occasional (29-5%) |
| HP:0001642 | Pulmonic stenosis | Occasional (29-5%) |
| HP:0001650 | Aortic valve stenosis | Occasional (29-5%) |
| HP:0001653 | Mitral regurgitation | Occasional (29-5%) |
Total: 18
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000501 | Glaucoma | 16 |
| HP:0030961 | Microspherophakia | 13 |
| HP:0004322 | Short stature | 10 |
| HP:0001083 | Ectopia lentis | 8 |
| HP:0001156 | Brachydactyly | 8 |
| HP:0012109 | Angle closure glaucoma | 5 |
| HP:0000545 | Myopia | 3 |
| HP:0001387 | Joint stiffness | 3 |
| HP:0011003 | High myopia | 3 |
| HP:0001132 | Lens subluxation | 2 |
| HP:0000518 | Cataract | 1 |
| HP:0000563 | Keratoconus | 1 |
| HP:0000648 | Optic atrophy | 1 |
| HP:0000939 | Osteoporosis | 1 |
| HP:0001634 | Mitral valve prolapse | 1 |
| HP:0002617 | Dilatation | 1 |
| HP:0002777 | Tracheal stenosis | 1 |
| HP:0012841 | Retinal vascular tortuosity | 1 |