| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (71.0%) |
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. |
| Long philtrum Micrognathia Upslanted palpebral fissure Epiphyseal dysplasia | ||
| Child, Preschool Differential Diagnosis Dwarfism Females Homo sapiens Osteochondrodysplasias Spinal Diseases | ||
| 2 (63.7%) |
25091507 |
A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia. Hufnagel SB, Weaver KN, Hufnagel RB, Bader PI, Schorry EK, Hopkin RJ. Am J Med Genet A. 2014;164A(10):2607-12. |
| Micrognathia Brachydactyly Micromelia | ||
| COL11A1 | ||
| Bone Diseases, Developmental Collagen Type XI Females Homo sapiens Mutation Myopia | ||
| 3 (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 | ||
| 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 | ||
| 5 (32.2%) |
9188673 |
Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene. van Steensel MA, Buma P, de Waal Malefijt MC, van den Hoogen FH, Brunner HG. Am J Med Genet. 1997;70(3):315-23. |
| Epiphyseal dysplasia | ||
| COL11A1 COL11A2 | ||
| rs121912945 rs750006299 rs797044915 | ||
| Adult Child Child, Preschool Deafness Electron Microscopy Females Homo sapiens Homozygote Male Mutation | ||
| 6 (27.8%) |
27858841 (5591089) |
Marshall syndrome in a young child, a reality: Case report. Trandafir LM, Chiriac MI, Diaconescu S, Ioniuc I, Miron I, Rusu D. Medicine (Baltimore). 2016;95(44):e5065. |
| Fever Stomatitis | ||
| Cataract Child, Preschool Collagen Type XI Craniofacial Abnormalities Females Homo sapiens Osteochondrodysplasias | ||
| 7 (21.2%) |
9489375 |
[A case of Marshall syndrome with secondary glaucoma due to spontaneous rupture of the lens capsule]. Endo S, Hashimoto Y, Ishida N, Kusano Y, Ohkoshi K, Yamaguchi T. Nippon Ganka Gakkai Zasshi. 1998;102(1):75-9. |
| Hypertelorism Arthropathy | ||
| Acute Disease Cataract Child Facies Glaucoma Homo sapiens Lens Subluxation Male Rupture, Spontaneous Syndrome Vitrectomy | ||
| 7 (21.2%) |
4014313 |
Autosomal recessive deafness with skeletal dysplasia and facial appearance of Marshall syndrome. Miny P, Lenz W. Am J Med Genet. 1985;21(2):317-24. |
| Skeletal dysplasia | ||
| Adult Bone Diseases, Developmental Child, Preschool Deafness Facial Expression Females Genes, Recessive Homo sapiens Infant Male Syndrome | ||
| 9 (4.0%) |
30650974 |
Marshall and stickler syndrome in one family. Tomikova D, Buanyova B, Krasnik V, Gerinec A. Cesk Slov Oftalmol. 0000;74(3):108-111. |
| Glaucoma | ||
| c|SUB|C|2710|T;RS#:121912882 p|SUB|R|904|C;RS#:121912882 rs121912882 | ||
| Arthritis Connective Tissue Diseases Females Homo sapiens Infant Male Myopia Retinal Detachment | ||
| 9 (4.0%) |
10889003 |
Audiovestibular phenotype associated with a COL11A1 mutation in Marshall syndrome. Griffith AJ, Gebarski SS, Shepard NT, Kileny PR. Arch Otolaryngol Head Neck Surg. 2000;126(7):891-4. |
| Cataract | ||
| COL11A1 | ||
| Audiometry, Pure-Tone Craniofacial Abnormalities Electronystagmography Females Homo sapiens Male Mutation Phenotype RNA Splicing Syndrome Vestibular Diseases X-Ray Computed Tomography |
Total: 42
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000164 | Abnormality of the dentition | Very frequent (99-80%) |
| HP:0000179 | Thick lower lip vermilion | Very frequent (99-80%) |
| HP:0000215 | Thick upper lip vermilion | Very frequent (99-80%) |
| HP:0000248 | Brachycephaly | Very frequent (99-80%) |
| HP:0000272 | Malar flattening | Very frequent (99-80%) |
| HP:0000316 | Hypertelorism | Very frequent (99-80%) |
| HP:0000343 | Long philtrum | Very frequent (99-80%) |
| HP:0000347 | Micrognathia | Very frequent (99-80%) |
| HP:0000407 | Sensorineural hearing impairment | Very frequent (99-80%) |
| HP:0000431 | Wide nasal bridge | Very frequent (99-80%) |
| HP:0000463 | Anteverted nares | Very frequent (99-80%) |
| HP:0000518 | Cataract | Very frequent (99-80%) |
| HP:0000545 | Myopia | Very frequent (99-80%) |
| HP:0002829 | Arthralgia | Very frequent (99-80%) |
| HP:0003196 | Short nose | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0005280 | Depressed nasal bridge | Very frequent (99-80%) |
| HP:0010669 | Hypoplasia of the zygomatic bone | Very frequent (99-80%) |
| HP:0012368 | Flat face | Very frequent (99-80%) |
| HP:0000175 | Cleft palate | Frequent (79-30%) |
| HP:0000327 | Hypoplasia of the maxilla | Frequent (79-30%) |
| HP:0000501 | Glaucoma | Frequent (79-30%) |
| HP:0000505 | Visual impairment | Frequent (79-30%) |
| HP:0000520 | Proptosis | Frequent (79-30%) |
| HP:0000541 | Retinal detachment | Frequent (79-30%) |
| HP:0000646 | Amblyopia | Frequent (79-30%) |
| HP:0000655 | obsolete Vitreoretinal degeneration | Frequent (79-30%) |
| HP:0000966 | Hypohidrosis | Frequent (79-30%) |
| HP:0001006 | Hypotrichosis | Frequent (79-30%) |
| HP:0001083 | Ectopia lentis | Frequent (79-30%) |
| HP:0002514 | Cerebral calcification | Frequent (79-30%) |
| HP:0002684 | Thickened calvaria | Frequent (79-30%) |
| HP:0002738 | Hypoplastic frontal sinuses | Frequent (79-30%) |
| HP:0002758 | Osteoarthritis | Frequent (79-30%) |
| HP:0002857 | Genu valgum | Frequent (79-30%) |
| HP:0004327 | Abnormal vitreous humor morphology | Frequent (79-30%) |
| HP:0000218 | High palate | Occasional (29-5%) |
| HP:0000486 | Strabismus | Occasional (29-5%) |
| HP:0000535 | Sparse and thin eyebrow | Occasional (29-5%) |
| HP:0000639 | Nystagmus | Occasional (29-5%) |
| HP:0000653 | Sparse eyelashes | Occasional (29-5%) |
| HP:0002007 | Frontal bossing | Occasional (29-5%) |
Total: 12
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000518 | Cataract | 3 |
| HP:0000501 | Glaucoma | 2 |
| HP:0000545 | Myopia | 2 |
| HP:0002652 | Skeletal dysplasia | 2 |
| HP:0000316 | Hypertelorism | 1 |
| HP:0000589 | Coloboma | 1 |
| HP:0001945 | Fever | 1 |
| HP:0003040 | Arthropathy | 1 |
| HP:0010280 | Stomatitis | 1 |
| HP:0011003 | High myopia | 1 |
| HP:0025439 | Pharyngitis | 1 |
| HP:0100719 | Lens coloboma | 1 |