| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (59.8%) |
7742215 |
Spondyloepiphyseal dysplasia tarda and nephrotic syndrome in three siblings. Lama G, Marrone N, Majorana M, Cirillo F, Salsano ME, Rinaldi MM. Pediatr Nephrol. 1995;9(1):19-23. |
| Short neck Short femoral neck | ||
| Adult Body Height Child Females Homo sapiens Kidney Male Nephrotic Syndrome Osteochondrodysplasias | ||
| 2 (42.6%) |
10870664 |
Spondyloepiphyseal dysplasia tarda with progressive arthropathy. Kocyigit H, Arkun R, Ozkinay F, Cogulu O, Hizli N, Memis A. Clin Rheumatol. 2000;19(3):238-41. |
| Platyspondyly Short tubular bones of the hand | ||
| Adult Arthropathy Bone and Bones Disease Progression Females Hand Homo sapiens Lumbosacral Region Osteochondrodysplasias | ||
| 2 (42.6%) |
6410512 |
Spondyloepiphyseal dysplasia tarda with progressive arthropathy. Kaibara N, Takagishi K, Katsuki I, Eguchi M, Masumi S, Nishio A. Skeletal Radiol. 1983;10(1):13-6. |
| Platyspondyly Short tubular bones of the hand | ||
| Adult Arthropathy Females Genes, Recessive Hand Homo sapiens Male Mucopolysaccharidosis IV | ||
| 4 (39.0%) |
8298734 |
Previously unrecognized form of familial spondyloepiphyseal dysplasia tarda with characteristic facies. Huson SM, Crowley S, Hall CM, Supramaniam G, Winter RM. Clin Dysmorphol. 1993;2(1):20-7. |
| Microcephaly | ||
| Child Face Females Genes, Recessive Homo sapiens Intellectual Disability Leg Male Microcephaly Osteochondrodysplasias Syndrome | ||
| 5 (34.8%) |
25553839 |
Novel WISP3 mutations causing spondyloepiphyseal dysplasia tarda with progressive arthropathy in two unrelated Chinese families. Liu L, Li N, Zhao Z, Li W, Xia W. Joint Bone Spine. 2015;82(2):125-8. |
| Platyspondyly Metaphyseal dysplasia | ||
| CCN6 | ||
| c|DEL|624|A c|DUP|105|T| c|SUB|T|342|G | ||
| Adult Arthropathy Asians CCN Intercellular Signaling Proteins Homo sapiens Male Mutation | ||
| 6 (34.4%) |
28316857 (5339526) |
Progressive Pseudorheumatoid Dysplasia or JIA? Wickrematilake G. Case Rep Rheumatol. 2017;2017:1609247. |
| Platyspondyly Flattened epiphysis | ||
| 7 (32.7%) |
14763708 |
X-linked spondyloepiphyseal dysplasia tarda: molecular cause of a heritable disorder associated with early degenerative joint disease. Fiedler J, Bergmann C, Brenner RE. Acta Orthop Scand. 2003;74(6):737-41. |
| Epiphyseal dysplasia Dysplasia of the femoral head | ||
| TRAPPC2 | ||
| c|SUB|C|74|A | ||
| Adult Child Codon, Nonsense DNA Mutational Analysis Genetic Diseases, X-Linked Hip Joint Homo sapiens Male Middle Aged Osteochondrodysplasias | ||
| 8 (32.2%) |
3253849 |
[Spondyloepiphyseal dysplasia tarda: bilateral total arthroplasty of the hip]. Soriano RM, Weisz I. Rev Chir Orthop Reparatrice Appar Mot. 1988;74(8):778-81. |
| Epiphyseal dysplasia | ||
| Adult Females Homo sapiens Male Osteochondrodysplasias | ||
| 9 (31.4%) |
17596985 |
Progressive pseudorheumatoid dysplasia: three cases in one family. Bennani L, Amine B, Ichchou L, Lazrak N, Hajjaj-Hassouni N. Joint Bone Spine. 2007;74(4):393-5. |
| Hip dysplasia Thoracic kyphosis | ||
| CRP | ||
| Adult Blood Chemical Analysis Child, Preschool Disease Progression Females Follow-Up Studies Genetic Predisposition to Disease Health Risk Assessment Homo sapiens Male Osteochondrodysplasias Pain Measurement Range of Motion, Articular Rheumatoid Arthritis Severity of Illness Index | ||
| 10 (29.2%) |
10483149 |
Transtrochanteric curved varus femoral osteotomy for spondyloepiphyseal dysplasia tarda. A case report. Inoue T, Naito M, Shiota E, Nishino I, Ogata K. Fukuoka Igaku Zasshi. 1999;90(7):329-32. |
| Spondyloepiphyseal dysplasia Acetabular dysplasia | ||
| Females Femur Hip Dislocation Homo sapiens Osteochondrodysplasias Osteotomy |
Total: 17
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000926 | Platyspondyly | Very frequent (99-80%) |
| HP:0001552 | Barrel-shaped chest | Very frequent (99-80%) |
| HP:0002655 | Spondyloepiphyseal dysplasia | Very frequent (99-80%) |
| HP:0002758 | Osteoarthritis | Very frequent (99-80%) |
| HP:0002829 | Arthralgia | Very frequent (99-80%) |
| HP:0002942 | Thoracic kyphosis | Very frequent (99-80%) |
| HP:0003498 | Disproportionate short stature | Very frequent (99-80%) |
| HP:0005930 | Abnormality of epiphysis morphology | Very frequent (99-80%) |
| HP:0009824 | Upper limb undergrowth | Very frequent (99-80%) |
| HP:0010306 | Short thorax | Very frequent (99-80%) |
| HP:0000470 | Short neck | Frequent (79-30%) |
| HP:0002650 | Scoliosis | Frequent (79-30%) |
| HP:0002812 | Coxa vara | Frequent (79-30%) |
| HP:0002866 | Hypoplastic iliac wing | Frequent (79-30%) |
| HP:0002938 | Lumbar hyperlordosis | Frequent (79-30%) |
| HP:0003311 | Hypoplasia of the odontoid process | Frequent (79-30%) |
| HP:0008843 | Hip osteoarthritis | Frequent (79-30%) |
Total: 16
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0003040 | Arthropathy | 13 |
| HP:0002652 | Skeletal dysplasia | 3 |
| HP:0000093 | Proteinuria | 1 |
| HP:0000100 | Nephrotic syndrome | 1 |
| HP:0000926 | Platyspondyly | 1 |
| HP:0001258 | Spastic paraplegia | 1 |
| HP:0001289 | Confusion | 1 |
| HP:0001369 | Arthritis | 1 |
| HP:0001370 | Rheumatoid arthritis | 1 |
| HP:0001889 | Megaloblastic anemia | 1 |
| HP:0002655 | Spondyloepiphyseal dysplasia | 1 |
| HP:0003418 | Back pain | 1 |
| HP:0003498 | Disproportionate short stature | 1 |
| HP:0003521 | Disproportionate short-trunk short stature | 1 |
| HP:0007957 | Corneal opacity | 1 |
| HP:0010550 | Paraplegia | 1 |