| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (60.5%) |
21375138 |
Stickler syndrome in Pierre-Robin sequence prenatal ultrasonographic diagnosis and postnatal therapy: two cases report. Pacella E, Malvasi A, Tinelli A, Laterza F, Dell'Edera D, Pacella F, Mazzeo F, Ferraresi A, Malarska KG, Cavallotti C. Eur Rev Med Pharmacol Sci. 2010;14(12):1051-4. |
| Glossoptosis Micrognathia | ||
| Adult Connective Tissue Diseases Females Homo sapiens Infant, Newborn Male Myopia Pierre Robin Syndrome Predictive Value of Tests Retinal Detachment Ultrasonography, Prenatal | ||
| 1 (60.5%) |
18950500 (2579916) |
Significant ophthalmoarthropathy associated with ectodermal dysplasia in a child with Marshall-Stickler overlap: a case report. Al Kaissi A, Ganger R, Klaushofer K, Grill F. Cases J. 2008;1(1):270. |
| Glossoptosis Micrognathia | ||
| 3 (58.0%) |
3438054 |
The Weissenbacher-Zweymuller phenotype in the neonatal period as an expression in the continuum of manifestations of the hereditary arthro-ophthalmopathies. Scribanu N, O'Neill J, Rimoin D. Ophthalmic Paediatr Genet. 1987;8(3):159-63. |
| Micrognathia Dumbbell-shaped long bone | ||
| Arthropathy Child Development Females Homo sapiens Infant Phenotype Syndrome | ||
| 4 (57.8%) |
28841907 (5574094) |
A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature. Higuchi Y, Hasegawa K, Yamashita M, Tanaka H, Tsukahara H. J Med Case Rep. 2017;11(1):237. |
| Micrognathia | ||
| COL11A1 COL11A2 COL2A1 | ||
| c|SUB|G|1142|A;RS#:765231668 p|SUB|G|381|D;RS#:765231668 | ||
| Arthritis Cataract Child Child, Preschool Cleft Palate Collagen Type XI Connective Tissue Diseases Craniofacial Abnormalities Differential Diagnosis Growth Disorders Homo sapiens Male Micrognathism Mutation Osteochondrodysplasias Palate, Soft Phenotype Retinal Detachment | ||
| 4 (57.8%) |
17138163 |
Difficulties in anesthetic management of patients with micrognathia: report of a patient with Stickler syndrome. Kucukyavuz Z, Ozkaynak O, Tuzuner AM, Kisnisci R. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2006;102(6):e33-6. |
| Micrognathia | ||
| Anesthesia, Inhalation Anesthetics, Inhalation Cleft Palate Facies Homo sapiens Infant Intubation, Intratracheal Male Mandible Methyl Ethers Micrognathism Syndrome | ||
| 4 (57.8%) |
2250061 |
Stickler syndrome. Bennett JT, McMurray SW. J Pediatr Orthop. 1990;10(6):760-3. |
| Micrognathia | ||
| Child Connective Tissue Diseases Eye Diseases, Hereditary Females Genetic Diseases, Inborn Homo sapiens Male | ||
| 4 (57.8%) |
880775 |
Hereditary arthro-ophthalmopathy (the Stickler syndrome). Report of a kindred with protrusio acetabuli. Beals RK. Clin Orthop Relat Res. 1977;(125):32-5. |
| Micrognathia | ||
| Bone Diseases, Developmental Females Homo sapiens Male Micrognathism Middle Aged Myopia Retinal Detachment Syndrome | ||
| 8 (50.3%) |
12511844 |
[Polyarthritic manifestations revealing Stickler syndrome]. Hakim H, Elloumi M, Ben Salem M, Karray S, Baklouti S. J Radiol. 2002;83(12 Pt 1):1856-8. |
| Pierre-Robin sequence Epiphyseal dysplasia | ||
| Adult Eye Diseases, Hereditary Females Genes, Dominant Homo sapiens Myopia Ophthalmoscopy Osteochondrodysplasias Syndrome | ||
| 8 (50.3%) |
8863161 |
PCR assay confirms diagnosis in syndrome with variably expressed phenotype: mutation detection in Stickler syndrome. Ahmad NN, McDonald-McGinn DM, Dixon P, Zackai EH, Tasman WS. J Med Genet. 1996;33(8):678-81. |
| Pierre-Robin sequence Epiphyseal dysplasia | ||
| COL2A1 | ||
| c|SUB|C||T | ||
| DNA Mutational Analysis Females Homo sapiens Infant, Newborn Male Micrognathism Phenotype Pierre Robin Syndrome Point Mutation Polymerase Chain Reaction Procollagen Syndrome | ||
| 10 (40.1%) |
27438445 |
Cervical Instability in Pierre Robin Sequence: An Addition to the Algorithm. Barr RM, Khan SA, Shah MN, Roy S, Teichgraeber JF, Greives MR. J Craniofac Surg. 2016;27(7):1674-1676. |
| Pierre-Robin sequence Cervical instability | ||
| Adult Cervical Vertebrae Females Homo sapiens Infant, Newborn Joint Instability Osteogenesis, Distraction Pierre Robin Syndrome Pregnancy Prone Position Retrospective Studies |
Total: 67
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000272 | Malar flattening | Very frequent (99-80%) |
| HP:0000286 | Epicanthus | Very frequent (99-80%) |
| HP:0000327 | Hypoplasia of the maxilla | Very frequent (99-80%) |
| HP:0000343 | Long philtrum | Very frequent (99-80%) |
| HP:0000505 | Visual impairment | Very frequent (99-80%) |
| HP:0000506 | Telecanthus | Very frequent (99-80%) |
| HP:0000518 | Cataract | Very frequent (99-80%) |
| HP:0000541 | Retinal detachment | Very frequent (99-80%) |
| HP:0000545 | Myopia | Very frequent (99-80%) |
| HP:0002652 | Skeletal dysplasia | Very frequent (99-80%) |
| HP:0002829 | Arthralgia | Very frequent (99-80%) |
| HP:0003196 | Short nose | Very frequent (99-80%) |
| HP:0003312 | Abnormal form of the vertebral bodies | Very frequent (99-80%) |
| HP:0004327 | Abnormal vitreous humor morphology | Very frequent (99-80%) |
| HP:0005280 | Depressed nasal bridge | Very frequent (99-80%) |
| HP:0005930 | Abnormality of epiphysis morphology | Very frequent (99-80%) |
| HP:0011800 | Midface retrusion | Very frequent (99-80%) |
| HP:0000158 | Macroglossia | Frequent (79-30%) |
| HP:0000162 | Glossoptosis | Frequent (79-30%) |
| HP:0000175 | Cleft palate | Frequent (79-30%) |
| HP:0000204 | Cleft upper lip | Frequent (79-30%) |
| HP:0000347 | Micrognathia | Frequent (79-30%) |
| HP:0000365 | Hearing impairment | Frequent (79-30%) |
| HP:0000389 | Chronic otitis media | Frequent (79-30%) |
| HP:0000407 | Sensorineural hearing impairment | Frequent (79-30%) |
| HP:0000457 | Depressed nasal ridge | Frequent (79-30%) |
| HP:0000463 | Anteverted nares | Frequent (79-30%) |
| HP:0000483 | Astigmatism | Frequent (79-30%) |
| HP:0000520 | Proptosis | Frequent (79-30%) |
| HP:0000768 | Pectus carinatum | Frequent (79-30%) |
| HP:0000926 | Platyspondyly | Frequent (79-30%) |
| HP:0001166 | Arachnodactyly | Frequent (79-30%) |
| HP:0001252 | Muscular hypotonia | Frequent (79-30%) |
| HP:0001373 | Joint dislocation | Frequent (79-30%) |
| HP:0001519 | Disproportionate tall stature | Frequent (79-30%) |
| HP:0001634 | Mitral valve prolapse | Frequent (79-30%) |
| HP:0002020 | Gastroesophageal reflux | Frequent (79-30%) |
| HP:0002205 | Recurrent respiratory infections | Frequent (79-30%) |
| HP:0002650 | Scoliosis | Frequent (79-30%) |
| HP:0002653 | Bone pain | Frequent (79-30%) |
| HP:0002758 | Osteoarthritis | Frequent (79-30%) |
| HP:0002808 | Kyphosis | Frequent (79-30%) |
| HP:0002857 | Genu valgum | Frequent (79-30%) |
| HP:0005692 | Joint hyperflexibility | Frequent (79-30%) |
| HP:0011675 | Arrhythmia | Frequent (79-30%) |
| HP:0000316 | Hypertelorism | Occasional (29-5%) |
| HP:0000486 | Strabismus | Occasional (29-5%) |
| HP:0000501 | Glaucoma | Occasional (29-5%) |
| HP:0000554 | Uveitis | Occasional (29-5%) |
| HP:0000618 | Blindness | Occasional (29-5%) |
| HP:0000682 | Abnormality of dental enamel | Occasional (29-5%) |
| HP:0000940 | Abnormal diaphysis morphology | Occasional (29-5%) |
| HP:0001083 | Ectopia lentis | Occasional (29-5%) |
| HP:0001533 | Slender build | Occasional (29-5%) |
| HP:0002827 | Hip dislocation | Occasional (29-5%) |
| HP:0003179 | Protrusio acetabuli | Occasional (29-5%) |
| HP:0003202 | Skeletal muscle atrophy | Occasional (29-5%) |
| HP:0003416 | Spinal canal stenosis | Occasional (29-5%) |
| HP:0004322 | Short stature | Occasional (29-5%) |
| HP:0004326 | Cachexia | Occasional (29-5%) |
| HP:0004349 | Reduced bone mineral density | Occasional (29-5%) |
| HP:0004374 | Hemiplegia/hemiparesis | Occasional (29-5%) |
| HP:0006288 | Advanced eruption of teeth | Occasional (29-5%) |
| HP:0008872 | Feeding difficulties in infancy | Occasional (29-5%) |
| HP:0009804 | Reduced number of teeth | Occasional (29-5%) |
| HP:0010290 | Short hard palate | Occasional (29-5%) |
| HP:0010807 | Open bite | Occasional (29-5%) |
Total: 36
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000541 | Retinal detachment | 12 |
| HP:0000545 | Myopia | 5 |
| HP:0011003 | High myopia | 5 |
| HP:0000201 | Pierre-Robin sequence | 4 |
| HP:0000618 | Blindness | 3 |
| HP:0002656 | Epiphyseal dysplasia | 3 |
| HP:0002758 | Osteoarthritis | 3 |
| HP:0012230 | Rhegmatogenous retinal detachment | 3 |
| HP:0000501 | Glaucoma | 2 |
| HP:0000518 | Cataract | 2 |
| HP:0001369 | Arthritis | 2 |
| HP:0003088 | Premature osteoarthritis | 2 |
| HP:0000098 | Tall stature | 1 |
| HP:0000347 | Micrognathia | 1 |
| HP:0000365 | Hearing impairment | 1 |
| HP:0000381 | Stapes ankylosis | 1 |
| HP:0000592 | Blue sclerae | 1 |
| HP:0001119 | Keratoglobus | 1 |
| HP:0001289 | Confusion | 1 |
| HP:0001561 | Polyhydramnios | 1 |
| HP:0001634 | Mitral valve prolapse | 1 |
| HP:0001653 | Mitral regurgitation | 1 |
| HP:0002651 | Spondyloepimetaphyseal dysplasia | 1 |
| HP:0002655 | Spondyloepiphyseal dysplasia | 1 |
| HP:0002750 | Delayed skeletal maturation | 1 |
| HP:0002757 | Recurrent fractures | 1 |
| HP:0002980 | Femoral bowing | 1 |
| HP:0003037 | Enlarged joints | 1 |
| HP:0003040 | Arthropathy | 1 |
| HP:0004749 | Atrial flutter | 1 |
| HP:0006375 | Dumbbell-shaped femur | 1 |
| HP:0007902 | Vitreous hemorrhage | 1 |
| HP:0008462 | Cervical instability | 1 |
| HP:0009711 | Retinal capillary hemangioma | 1 |
| HP:0032252 | Granuloma | 1 |
| HP:0100255 | Metaphyseal dysplasia | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|