| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (32.2%) |
31169704 |
Five-year follow-up outcomes of comprehensive rehabilitation in Korean siblings with cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome: A case report. Yoo SD, Han YR, Kim DH, Lee SA. Medicine (Baltimore). 2019;98(23):e15908. |
| Cataract Epiphyseal dysplasia | ||
| Child Congenital Dysplasia Of The Hip Craniofacial Abnormalities Eye Abnormalities Females Growth Disorders Homo sapiens Male Osteochondrodysplasias Sibling South Korea Tooth Abnormalities | ||
| 1 (32.2%) |
11471171 |
Third case of cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome, further delineating a new malformation syndrome: first report of an affected male and review of literature. Innes AM, Chudley AE, Reed MH, Shuckett EP, Hildes-Ripstein GE, Greenberg CR. Am J Med Genet. 2001;102(1):44-7. |
| Ptosis Epiphyseal dysplasia | ||
| Bone and Bones Eye Abnormalities Homo sapiens Infant Male Syndrome Tooth Abnormalities | ||
| 1 (32.2%) |
7702089 |
CODAS syndrome: a new distinct MCA/MR syndrome with radiological changes of spondyloepiphyseal dysplasia. Another case report. de Almeida JC, Vargas FR, Barbosa-Neto JG, Llerena JC Jr. Am J Med Genet. 1995;55(1):19-20. |
| Cataract Spondyloepiphyseal dysplasia Epiphyseal dysplasia | ||
| Child, Preschool Females Homo sapiens Osteochondrodysplasias | ||
| 4 (17.5%) |
28148925 |
A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome. Inui T, Anzai M, Takezawa Y, Endo W, Kakisaka Y, Kikuchi A, Onuma A, Kure S, Nishino I, Ohba C, Saitsu H, Matsumoto N, Haginoya K. J Hum Genet. 2017;62(6):653-655. |
| Cataract Spasticity | ||
| LONP1 SIL1 | ||
| p|FS|S|100|Q|46 p|SUB|R|786|W;RS#:568896016 rs1555714925 | ||
| ATP-Dependent Proteases Child Congenital Dysplasia Of The Hip Craniofacial Abnormalities Exome Eye Abnormalities Genetic Predisposition to Disease Growth Disorders Homo sapiens Intellectual Disability Male Mitochondrial Proteins Osteochondrodysplasias Protein Domain Spinocerebellar Degeneration Tooth Abnormalities | ||
| 5 (4.0%) |
20503327 |
Fourth case of cerebral, ocular, dental, auricular, skeletal syndrome (CODAS), description of new features and molecular analysis. Marlin S, Ducou Le Pointe H, Le Merrer M, Portnoi MF, Chantot S, Jonard L, Mantel-Guiochon A, Siffroi JP, Garabedian EN, Denoyelle F. Am J Med Genet A. 2010;152A(6):1510-4. |
| Cataract | ||
| rs1555714925 | ||
| Bone and Bones Cataract Child, Preschool Heart Atrium Homo sapiens Intellectual Disability Male Syndrome Tooth Abnormalities | ||
| 5 (4.0%) |
1887855 |
Newly recognized syndrome of cerebral, ocular, dental, auricular, skeletal anomalies: CODAS syndrome--a case report. Shebib SM, Reed MH, Shuckett EP, Cross HG, Perry JB, Chudley AE. Am J Med Genet. 1991;40(1):88-93. |
| Ptosis | ||
| rs1555714925 rs879255247 | ||
| Bone and Bones Eye Abnormalities Females Homo sapiens Infant Syndrome Tooth Abnormalities Ultrasonography |
Total: 33
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000286 | Epicanthus | Very frequent (99-80%) |
| HP:0000396 | Overfolded helix | Very frequent (99-80%) |
| HP:0000463 | Anteverted nares | Very frequent (99-80%) |
| HP:0000518 | Cataract | Very frequent (99-80%) |
| HP:0000682 | Abnormality of dental enamel | Very frequent (99-80%) |
| HP:0000684 | Delayed eruption of teeth | Very frequent (99-80%) |
| HP:0001156 | Brachydactyly | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0002750 | Delayed skeletal maturation | 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:0003417 | Coronal cleft vertebrae | Very frequent (99-80%) |
| HP:0004122 | Midline defect of the nose | Very frequent (99-80%) |
| HP:0004322 | 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:0006482 | Abnormality of dental morphology | Very frequent (99-80%) |
| HP:0009901 | Crumpled ear | Very frequent (99-80%) |
| HP:0010049 | Short metacarpal | Very frequent (99-80%) |
| HP:0012368 | Flat face | Very frequent (99-80%) |
| HP:0000407 | Sensorineural hearing impairment | Frequent (79-30%) |
| HP:0000508 | Ptosis | Frequent (79-30%) |
| HP:0001252 | Muscular hypotonia | Frequent (79-30%) |
| HP:0001374 | Congenital hip dislocation | Frequent (79-30%) |
| HP:0002644 | Abnormality of pelvic girdle bone morphology | Frequent (79-30%) |
| HP:0002650 | Scoliosis | Frequent (79-30%) |
| HP:0005692 | Joint hyperflexibility | Frequent (79-30%) |
| HP:0000072 | Hydroureter | Occasional (29-5%) |
| HP:0000486 | Strabismus | Occasional (29-5%) |
| HP:0000639 | Nystagmus | Occasional (29-5%) |
| HP:0001600 | Abnormality of the larynx | Occasional (29-5%) |
| HP:0001629 | Ventricular septal defect | Occasional (29-5%) |
| HP:0005242 | Extrahepatic biliary duct atresia | Occasional (29-5%) |
Total: 1
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0002655 | Spondyloepiphyseal dysplasia | 1 |