| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (51.6%) |
25284522 |
Dental and maxillofacial alterations in patients affected from odontochondrodysplasia: a rare case report and review of literature. Inchingolo F, Derla C, Pacifici A, Cagiano R, Gargari M, Marrelli M, Amantea M, Inchingolo AM, Dipalma G, Signorini L, Pacifici L, Tatullo M. Oral Health Dent Manag. 2014;13(3):614-8. |
| Dental crowding Pectus carinatum Coxa valga Genu valgum | ||
| 2 (34.4%) |
8881299 |
[Odontochondrodysplasia]. Maroteaux P, Briscioli V, Lalatta F, Bonaventure J. Arch Pediatr. 1996;3(6):549-54. |
| Scoliosis Cone-shaped epiphysis | ||
| Child Dentinogenesis Imperfecta Females Homo sapiens Infant Infant, Newborn Male Osteochondrodysplasias | ||
| 3 (32.4%) |
18241073 |
Clinical and radiographic delineation of odontochondrodysplasia. Unger S, Antoniazzi F, Brugnara M, Alanay Y, Caglayan A, Lachlan K, Ikegawa S, Nishimura G, Zabel B, Spranger J, Superti-Furga A. Am J Med Genet A. 2008;146A(6):770-8. |
| Narrow chest Coxa valga | ||
| COL2A1 FGFR3 RMRP SBDS | ||
| Bone and Bones Child, Preschool Females Hand Homo sapiens Infant Lower Extremity Male Odontodysplasia Osteochondrodysplasias Pelvis | ||
| 4 (21.2%) |
1481841 |
Type II collagen defect in two sibs with the Goldblatt syndrome, a chondrodysplasia with dentinogenesis imperfecta, and joint laxity. Bonaventure J, Stanescu R, Stanescu V, Allain JC, Muriel MP, Ginisty D, Maroteaux P. Am J Med Genet. 1992;44(6):738-53. |
| Osteoporosis | ||
| COL2A1 | ||
| Cartilage Diseases Child Collagen Diseases Cultured Cells Dentinogenesis Imperfecta Dwarfism Females Fibroblasts Homo sapiens Infant, Newborn Ligaments Male Protein Denaturation Proteoglycan RNA, Messenger Syndrome |
Total: 22
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000703 | Dentinogenesis imperfecta | Very frequent (99-80%) |
| HP:0000774 | Narrow chest | Very frequent (99-80%) |
| HP:0000926 | Platyspondyly | Very frequent (99-80%) |
| HP:0000944 | Abnormality of the metaphysis | Very frequent (99-80%) |
| HP:0002983 | Micromelia | Very frequent (99-80%) |
| HP:0004279 | Short palm | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0005692 | Joint hyperflexibility | Very frequent (99-80%) |
| HP:0010579 | Cone-shaped epiphysis | Very frequent (99-80%) |
| HP:0000684 | Delayed eruption of teeth | Frequent (79-30%) |
| HP:0002650 | Scoliosis | Frequent (79-30%) |
| HP:0002673 | Coxa valga | Frequent (79-30%) |
| HP:0003278 | Square pelvis bone | Frequent (79-30%) |
| HP:0000278 | Retrognathia | Occasional (29-5%) |
| HP:0000486 | Strabismus | Occasional (29-5%) |
| HP:0001522 | Death in infancy | Occasional (29-5%) |
| HP:0001643 | Patent ductus arteriosus | Occasional (29-5%) |
| HP:0002007 | Frontal bossing | Occasional (29-5%) |
| HP:0002098 | Respiratory distress | Occasional (29-5%) |
| HP:0003196 | Short nose | Occasional (29-5%) |
| HP:0005280 | Depressed nasal bridge | Occasional (29-5%) |
| HP:0006487 | Bowing of the long bones | Occasional (29-5%) |
Total: 5
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000768 | Pectus carinatum | 1 |
| HP:0001388 | Joint laxity | 1 |
| HP:0002673 | Coxa valga | 1 |
| HP:0002857 | Genu valgum | 1 |
| HP:0100559 | Lower limb asymmetry | 1 |