| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (45.9%) |
18549487 (2438370) |
Isolated loss of inferior pubic ramus: a case report. Saber A. J Med Case Rep. 2008;2:202. |
| Patellar hypoplasia | ||
| 1 (45.9%) |
9133358 |
Small patella syndrome: a bone dysplasia to recognize and differentiate from the nail-patella syndrome. Azouz EM, Kozlowski K. Pediatr Radiol. 1997;27(5):432-5. |
| Patellar hypoplasia | ||
| Bone Diseases, Developmental Child, Preschool Differential Diagnosis Homo sapiens Male Nail-Patella Syndrome Patella Syndrome | ||
| 1 (45.9%) |
4045792 |
[The coxopodopatellar syndrome]. Morin P, Vielpeau C, Fournier L, Denizet D. J Radiol. 1985;66(6-7):441-6. |
| Patellar hypoplasia | ||
| Adult Congenital Foot Deformity Females Homo sapiens Male Patella Pelvic Bones Syndrome | ||
| 4 (31.0%) |
24038782 |
A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome. Matsushita M, Kitoh H, Kaneko H, Mishima K, Kadono I, Ishiguro N, Nishimura G. Am J Med Genet A. 2013;161A(10):2528-34. |
| Sandal gap | ||
| SOX9 TBX4 | ||
| p|SUB|H|169|Q;RS#:2229989 rs2229989 | ||
| Amino Acid Sequence Animals Bone Diseases, Developmental COS Cells Cercopithecus aethiops Child Computational Biology Conserved Sequence Homo sapiens Male Molecular Sequence Data Mutation Patella Phenotype Pierre Robin Syndrome SOX9 Transcription Factor Sequence Alignment Syndrome T-Box Domain Proteins | ||
| 5 (29.2%) |
3381566 |
[The small patella syndrome. A combination of knee and pelvic dysplasia]. Burckhardt A. Z Orthop Ihre Grenzgeb. 1988;126(1):22-9. |
| Hip dysplasia | ||
| Child Congenital Dysplasia Of The Hip Females Homo sapiens Leg Length Inequality Patella Pelvic Bones Syndrome | ||
| 6 (28.5%) |
29854702 (5974686) |
A Novel Heterozygous Mutation in the T-box Protein 4 Gene in an Adult Case of Small Patella Syndrome. Oda T, Matsushita M, Ono Y, Kitoh H, Sakai T. J Orthop Case Rep. 2018;8(1):85-88. |
| Skeletal dysplasia Recurrent patellar dislocation | ||
| TBX4 | ||
| p|FS|L|39|P|35 | ||
| 6 (28.5%) |
17916489 |
Bilateral recurrent patellar dislocation in a patient with isolated patella aplasia-hypoplasia. Nomura E, Inoue M, Kobayashi S. Arthroscopy. 2007;23(10):1136.e1-4. |
| Recurrent patellar dislocation | ||
| Adult Homo sapiens Male Patella Patellar Dislocation | ||
| 8 (26.3%) |
7573128 |
Small patella syndrome. Kozlowski K, Nelson J. Am J Med Genet. 1995;57(4):558-61. |
| Prominent forehead | ||
| Bone Diseases Child, Preschool Females Homo sapiens Male Patella Pelvis Syndrome |
Total: 5
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0002815 | Abnormality of the knee | Very frequent (99-80%) |
| HP:0005930 | Abnormality of epiphysis morphology | Very frequent (99-80%) |
| HP:0006498 | Aplasia/Hypoplasia of the patella | Very frequent (99-80%) |
| HP:0001385 | Hip dysplasia | Frequent (79-30%) |
| HP:0002644 | Abnormality of pelvic girdle bone morphology | Frequent (79-30%) |
Total: 2
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0003065 | Patellar hypoplasia | 2 |
| HP:0002652 | Skeletal dysplasia | 1 |