| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (5.0%) |
30303846 |
Osteosarcoma in an Adolescent with Kniest Dysplasia: A Case Report. Tetreault A, Ramalingam W, Black J, Miller NH, Donaldson N. JBJS Case Connect. 2018;8(4):e78. |
| Chronic pain | ||
| Cleft Palate Collagen Diseases Dwarfism Face Homo sapiens Hyaline Membrane Disease Incidental Findings Male Osteochondrodysplasias Osteosarcoma Radiography, Thoracic Young Adult | ||
| 1 (5.0%) |
30285969 |
Anesthetic Implications of a Patient With Kniest Dysplasia and Mitochondrial Disease: A Case Report. Salik I, Kubal K, Barst S. A A Pract. 2019;12(8):267-269. |
| Cataract | ||
| Anesthetics Cataract Extraction Child Cleft Palate Collagen Diseases Dwarfism Face Homo sapiens Hyaline Membrane Disease Male Mitochondrial Diseases Osteochondrodysplasias | ||
| 1 (5.0%) |
28109507 |
Surgery of the head and neck in patient with Kniest dysplasia: Is wound healing an issue? Husain Q, Cho J, Neugarten J, Modi VK. Int J Pediatr Otorhinolaryngol. 2017;93:97-99. |
| Tracheomalacia | ||
| Cleft Palate Collagen Diseases Dwarfism Face Homo sapiens Hyaline Membrane Disease Infant Male Mandibular Advancement Orthognathic Surgical Procedures Osteochondrodysplasias Osteogenesis, Distraction Otorhinolaryngologic Surgical Procedures Wound Healing | ||
| 1 (5.0%) |
27303468 (4891633) |
Kniest Dysplasia: New Radiographic Features in the Skeleton. Maldjian C, Chew FS, Klein R, Bonakdarpour A, McCarthy J, Kelly J. Radiol Case Rep. 2007;2(2):72-7. |
| Skeletal dysplasia | ||
| 1 (5.0%) |
27152560 (5097703) |
Mandibular Distraction in a Patient With Type II Collagenopathy. Garza RM, Alyono JC, Dorfman DW, Wan DC. J Craniofac Surg. 2017;28(8):2073-2075. |
| Micrognathia | ||
| Homo sapiens Mandible Mandibular Advancement Osteochondrodysplasias Osteogenesis, Distraction | ||
| 1 (5.0%) |
26345137 |
Association between Kniest dysplasia and chondrosarcoma in a child. Hochart A, Dieux A, Coucke P, Fron D, Fayoux P, Labalette P, Boutry N, Escande F, Aubert S, Renaud F, Rocourt N, Vinchon M, Leblond P. Am J Med Genet A. 2015;167A(12):3204-8. |
| Neoplasm | ||
| COL2A1 | ||
| rs121912880 rs1555164672 rs1555165183 rs1555165336 rs1555165501 rs1555167157 rs1555167847 rs886044555 | ||
| Chondrosarcoma Cleft Palate Collagen Diseases Dwarfism Face Homo sapiens Hyaline Membrane Disease Infant, Newborn Male Mutation Osteochondrodysplasias | ||
| 1 (5.0%) |
25809783 |
Stickler syndrome associated with epilepsy: report of three cases. Savasta S, Salpietro V, Sparta MV, Foiadelli T, Laino D, Lobefalo L, Marseglia GL, Verrotti A. Eur J Pediatr. 2015;174(5):697-701. |
| Seizure | ||
| COL2A1 | ||
| Arthritis Connective Tissue Diseases Epilepsy Females Homo sapiens Infant, Newborn Male Retinal Detachment Seizures | ||
| 1 (5.0%) |
23420745 |
Re-alignment-procedures for skeletal dysplasia in three patients with genetically diverse syndromes. Al Kaissi A, Ganger R, Roetzer KM, Schwarzbraun T, Klaushofer K, Grill F. Orthop Surg. 2013;5(1):33-9. |
| Joint laxity | ||
| Child Child, Preschool Cleft Palate Collagen Diseases Craniofacial Abnormalities Diabetes Mellitus, Insulin-Dependent Dwarfism Face Heterotopic Ossification Homo sapiens Hyaline Membrane Disease Joint Instability Lower Extremity Male Orthopedic Procedures Osteochondrodysplasias Polydactyly | ||
| 1 (5.0%) |
21980822 |
A case with oto-spondylo-mega-epiphyseal-dysplasia (OSMED): the clinical recognition and differential diagnosis. Karaer K, Rosti RO, Torun D, Sanal HT, Bahce M, Guran S. Turk J Pediatr. 2011;53(3):346-51. |
| Hypertelorism | ||
| Child, Preschool Differential Diagnosis Dwarfism Females Homo sapiens Osteochondrodysplasias Spinal Diseases | ||
| 1 (5.0%) |
21250907 |
Prenatal diagnosis of Kniest dysplasia with three-dimensional helical computed tomography. Wada R, Sawai H, Nishimura G, Isono K, Minagawa K, Takenobu T, Harada K, Tanaka H, Ishikura R, Komori S. J Matern Fetal Neonatal Med. 2011;24(9):1181-4. |
| Platyspondyly | ||
| COL2A1 | ||
| Cleft Palate Collagen Diseases Dwarfism Face Females Gestational Age Homo sapiens Hyaline Membrane Disease Imaging, Three-Dimensional Osteochondrodysplasias Pregnancy Pregnancy Trimester, Second Tomography, Spiral Computed Young Adult |
Total: 40
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000488 | Retinopathy | Very frequent (99-80%) |
| HP:0000545 | Myopia | Very frequent (99-80%) |
| HP:0000655 | obsolete Vitreoretinal degeneration | Very frequent (99-80%) |
| HP:0000926 | Platyspondyly | Very frequent (99-80%) |
| HP:0000944 | Abnormality of the metaphysis | Very frequent (99-80%) |
| HP:0000947 | Dumbbell-shaped long bone | Very frequent (99-80%) |
| HP:0001373 | Joint dislocation | Very frequent (99-80%) |
| HP:0001387 | Joint stiffness | Very frequent (99-80%) |
| HP:0002650 | Scoliosis | Very frequent (99-80%) |
| HP:0002652 | Skeletal dysplasia | Very frequent (99-80%) |
| HP:0002758 | Osteoarthritis | Very frequent (99-80%) |
| HP:0002808 | Kyphosis | Very frequent (99-80%) |
| HP:0002983 | Micromelia | Very frequent (99-80%) |
| HP:0003015 | Flared metaphysis | Very frequent (99-80%) |
| HP:0003307 | Hyperlordosis | Very frequent (99-80%) |
| HP:0003521 | Disproportionate short-trunk short stature | Very frequent (99-80%) |
| HP:0005280 | Depressed nasal bridge | Very frequent (99-80%) |
| HP:0005930 | Abnormality of epiphysis morphology | Very frequent (99-80%) |
| HP:0006172 | Flattened, squared-off epiphyses of tubular bones | Very frequent (99-80%) |
| HP:0008839 | Hypoplastic pelvis | Very frequent (99-80%) |
| HP:0008905 | Rhizomelia | Very frequent (99-80%) |
| HP:0010306 | Short thorax | Very frequent (99-80%) |
| HP:0011800 | Midface retrusion | Very frequent (99-80%) |
| HP:0100625 | Enlarged thorax | Very frequent (99-80%) |
| HP:0000175 | Cleft palate | Frequent (79-30%) |
| HP:0000311 | Round face | Frequent (79-30%) |
| HP:0000365 | Hearing impairment | Frequent (79-30%) |
| HP:0000520 | Proptosis | Frequent (79-30%) |
| HP:0000541 | Retinal detachment | Frequent (79-30%) |
| HP:0002812 | Coxa vara | Frequent (79-30%) |
| HP:0002827 | Hip dislocation | Frequent (79-30%) |
| HP:0000162 | Glossoptosis | Occasional (29-5%) |
| HP:0000347 | Micrognathia | Occasional (29-5%) |
| HP:0000501 | Glaucoma | Occasional (29-5%) |
| HP:0000508 | Ptosis | Occasional (29-5%) |
| HP:0000518 | Cataract | Occasional (29-5%) |
| HP:0001083 | Ectopia lentis | Occasional (29-5%) |
| HP:0002098 | Respiratory distress | Occasional (29-5%) |
| HP:0002777 | Tracheal stenosis | Occasional (29-5%) |
| HP:0002779 | Tracheomalacia | Occasional (29-5%) |
Total: 17
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000541 | Retinal detachment | 3 |
| HP:0002655 | Spondyloepiphyseal dysplasia | 3 |
| HP:0002751 | Kyphoscoliosis | 3 |
| HP:0000545 | Myopia | 2 |
| HP:0000347 | Micrognathia | 1 |
| HP:0000518 | Cataract | 1 |
| HP:0000947 | Dumbbell-shaped long bone | 1 |
| HP:0001561 | Polyhydramnios | 1 |
| HP:0002651 | Spondyloepimetaphyseal dysplasia | 1 |
| HP:0002652 | Skeletal dysplasia | 1 |
| HP:0002758 | Osteoarthritis | 1 |
| HP:0002779 | Tracheomalacia | 1 |
| HP:0003025 | Metaphyseal irregularity | 1 |
| HP:0003040 | Arthropathy | 1 |
| HP:0003088 | Premature osteoarthritis | 1 |
| HP:0004322 | Short stature | 1 |
| HP:0005716 | Lethal skeletal dysplasia | 1 |