| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 17 (29.2%) |
27109743 |
Nail-patella syndrome: report of 11 pediatric cases. Figueroa-Silva O, Vicente A, Agudo A, Baliu-Pique C, Gomez-Armayones S, Aldunce-Soto MJ, Inarejos Clemente EJ, Navallas Irujo M, Gutierrez de la Iglesia D, Gonzalez-Ensenat MA. J Eur Acad Dermatol Venereol. 2016;30(9):1614-7. |
| Nephropathy Skeletal dysplasia Iliac horns | ||
| LMX1B | ||
| Child Child, Preschool Females Homo sapiens Infant Infant, Newborn Male Nail-Patella Syndrome Retrospective Studies | ||
| 17 (29.2%) |
26872454 |
Management of patellar problems in skeletally mature patients with nail-patella syndrome. Louboutin L, Wascher D, Neyret P. Knee Surg Sports Traumatol Arthrosc. 2017;25(10):3012-3016. |
| Arthritis Iliac horns | ||
| Adult Arthritis Females Homo sapiens Joint Instability Male Middle Aged Nail-Patella Syndrome Orthopedic Procedures Patellar Dislocation Physical Examination | ||
| 17 (29.2%) |
26130880 |
Radiographic findings in the nail-patella syndrome. West JA, Louis TH. Proc (Bayl Univ Med Cent). 2015;28(3):334-6. |
| Iliac horns | ||
| 17 (29.2%) |
24029584 |
Correction of malformative patellar instability in patients with nail-patella syndrome: a case report and review of the literature. Lippacher S, Mueller-Rossberg E, Reichel H, Nelitz M. Orthop Traumatol Surg Res. 2013;99(6):749-54. |
| Iliac horns | ||
| Arthroscopy Child Females Follow-Up Studies Health Risk Assessment Homo sapiens Joint Instability Minimally Invasive Surgical Procedures Nail-Patella Syndrome Patellar Dislocation Rare Diseases Recovery of Function Time Factors | ||
| 17 (29.2%) |
22800460 (3438063) |
A hypoplastic patella fracture in nail patella syndrome: a case report. Neill SC, Murphy CG, McElwain JP. J Med Case Rep. 2012;6:196. |
| Nail dysplasia Iliac horns | ||
| 17 (29.2%) |
20199424 |
Nail-patella syndrome with an emphasis on the risk of renal and ocular findings. Kamath S, Bhagwandas K. Pediatr Dermatol. 2010;27(1):95-7. |
| Proteinuria Iliac horns | ||
| Child Females Homo sapiens Hyperlipidemia Kidney Diseases Nail-Patella Syndrome Patella | ||
| 17 (29.2%) |
19721866 (2732789) |
A synonymous genetic alteration of LMX1B in a family with nail-patella syndrome. Ham JH, Shin SJ, Joo KR, Park SM, Sung HY, Kim JS, Choi JS, Choi YJ, Song HC, Choi EJ. Korean J Intern Med. 2009;24(3):274-8. |
| Proteinuria Iliac horns | ||
| LMX1B | ||
| Females Homeodomain Proteins Homo sapiens LIM-Homeodomain Proteins Mutation Nail-Patella Syndrome | ||
| 17 (29.2%) |
18538102 |
Nail-patella syndrome and renal involvement. Description of three cases and literature review. Granata A, Nori G, Ravazzolo R, Marini M, Castellino S, Sicurezza E, Fiore CE, Mignani R. Clin Nephrol. 2008;69(5):377-82. |
| Proteinuria Iliac horns | ||
| LMX1B | ||
| Females Homo sapiens Kidney Failure, Chronic Male Middle Aged Nail-Patella Syndrome | ||
| 17 (29.2%) |
16902295 |
Missing creases of distal finger joints as a diagnostic clue of nail-patella syndrome. Itin PH, Eich G, Fistarol SK. Dermatology. 2006;213(2):153-5. |
| Glaucoma Iliac horns | ||
| Adult Differential Diagnosis Females Homo sapiens Nail-Patella Syndrome Skin Abnormalities | ||
| 17 (29.2%) |
16807765 |
Steroid-responsive nephrotic syndrome in a patient with nail-patella syndrome. Hari P, Mantan M, Dinda A, Hari S, Bagga A. Pediatr Nephrol. 2006;21(8):1197-9. |
| Nephrotic syndrome Flexion contracture Iliac horns | ||
| Child Glucocorticoids Homo sapiens Male Nail-Patella Syndrome Nephrotic Syndrome Remission Induction |
Total: 32
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001231 | Abnormal fingernail morphology | Very frequent (99-80%) |
| HP:0001387 | Joint stiffness | Very frequent (99-80%) |
| HP:0001598 | Concave nail | Very frequent (99-80%) |
| HP:0001800 | Hypoplastic toenails | Very frequent (99-80%) |
| HP:0001807 | Ridged nail | Very frequent (99-80%) |
| HP:0002652 | Skeletal dysplasia | Very frequent (99-80%) |
| HP:0002967 | Cubitus valgus | Very frequent (99-80%) |
| HP:0002999 | Patellar dislocation | Very frequent (99-80%) |
| HP:0005692 | Joint hyperflexibility | Very frequent (99-80%) |
| HP:0006498 | Aplasia/Hypoplasia of the patella | Very frequent (99-80%) |
| HP:0006650 | Thickening of the lateral border of the scapula | Very frequent (99-80%) |
| HP:0008388 | Abnormal toenail morphology | Very frequent (99-80%) |
| HP:0009780 | Iliac horns | Very frequent (99-80%) |
| HP:0009811 | Abnormality of the elbow | Very frequent (99-80%) |
| HP:0010624 | Aplastic/hypoplastic toenail | Very frequent (99-80%) |
| HP:0100777 | Exostoses | Very frequent (99-80%) |
| HP:0000093 | Proteinuria | Frequent (79-30%) |
| HP:0000100 | Nephrotic syndrome | Frequent (79-30%) |
| HP:0001373 | Joint dislocation | Frequent (79-30%) |
| HP:0001386 | Joint swelling | Frequent (79-30%) |
| HP:0002758 | Osteoarthritis | Frequent (79-30%) |
| HP:0002814 | Abnormality of the lower limb | Frequent (79-30%) |
| HP:0002817 | Abnormality of the upper limb | Frequent (79-30%) |
| HP:0000083 | Renal insufficiency | Occasional (29-5%) |
| HP:0000112 | Nephropathy | Occasional (29-5%) |
| HP:0000365 | Hearing impairment | Occasional (29-5%) |
| HP:0000501 | Glaucoma | Occasional (29-5%) |
| HP:0000518 | Cataract | Occasional (29-5%) |
| HP:0000790 | Hematuria | Occasional (29-5%) |
| HP:0000822 | Hypertension | Occasional (29-5%) |
| HP:0002633 | Vasculitis | Occasional (29-5%) |
| HP:0100820 | Glomerulopathy | Occasional (29-5%) |
Total: 35
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0009780 | Iliac horns | 14 |
| HP:0002164 | Nail dysplasia | 9 |
| HP:0000112 | Nephropathy | 8 |
| HP:0009760 | Antecubital pterygium | 5 |
| HP:0000093 | Proteinuria | 3 |
| HP:0000100 | Nephrotic syndrome | 3 |
| HP:0003065 | Patellar hypoplasia | 3 |
| HP:0000083 | Renal insufficiency | 1 |
| HP:0000099 | Glomerulonephritis | 1 |
| HP:0000891 | Cervical ribs | 1 |
| HP:0000969 | Edema | 1 |
| HP:0000975 | Hyperhidrosis | 1 |
| HP:0001371 | Flexion contracture | 1 |
| HP:0001597 | Abnormality of the nail | 1 |
| HP:0001658 | Myocardial infarction | 1 |
| HP:0001798 | Anonychia | 1 |
| HP:0001818 | Paronychia | 1 |
| HP:0001875 | Neutropenia | 1 |
| HP:0002014 | Diarrhea | 1 |
| HP:0002617 | Dilatation | 1 |
| HP:0002758 | Osteoarthritis | 1 |
| HP:0002907 | Microscopic hematuria | 1 |
| HP:0003040 | Arthropathy | 1 |
| HP:0004322 | Short stature | 1 |
| HP:0005575 | Hemolytic-uremic syndrome | 1 |
| HP:0006443 | Patellar aplasia | 1 |
| HP:0006702 | Coronary artery dissection | 1 |
| HP:0007906 | Ocular hypertension | 1 |
| HP:0012108 | Open angle glaucoma | 1 |
| HP:0012553 | Hypoplastic thumbnail | 1 |
| HP:0012578 | Membranous nephropathy | 1 |
| HP:0012722 | Heart block | 1 |
| HP:0100601 | Eclampsia | 1 |
| HP:0100798 | Fingernail dysplasia | 1 |
| HP:0100820 | Glomerulopathy | 1 |