| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (60.1%) |
10482874 |
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): presentation in two unrelated patients in the United States. Smith W, Ji HP, Mouradian W, Pagon RA. Am J Med Genet. 1999;86(3):245-52. |
| Oval face Long philtrum Tapered finger Kyphoscoliosis | ||
| Child Females Genes, Recessive Homo sapiens Infant Joint Instability Male Osteochondrodysplasias Phenotype United States | ||
| 2 (52.7%) |
8588592 |
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): clinical and radiological findings in a Guatemalan patient. Bradburn JM, Hall BD. Am J Med Genet. 1995;59(2):234-7. |
| Oval face Pectus carinatum Brachydactyly | ||
| Child, Preschool Face Females Guatemala Homo sapiens Joint Instability Metacarpus Osteochondrodysplasias | ||
| 3 (39.2%) |
27245527 |
Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type): A unique South African disorder. Honey EM. S Afr Med J. 2016;106(6 Suppl 1):S54-6. |
| Pierre-Robin sequence Skeletal dysplasia | ||
| B3GALT6 | ||
| Child, Preschool Congenital Abnormality Females Galactosyltransferases Homo sapiens Infant Joint Instability Kidney Kidney Diseases Mutation Osteochondrodysplasias South Africa | ||
| 4 (21.2%) |
18841068 |
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic or Hall type: report of a case with normal face and literature review. Sulko J, Kozlowski K. J Pediatr Orthop B. 2008;17(6):323-7. |
| Spondyloepimetaphyseal dysplasia | ||
| Bone and Bones Child Differential Diagnosis Dwarfism Ehlers-Danlos Syndrome Females Homo sapiens Joint Instability Osteochondrodysplasias | ||
| 4 (21.2%) |
12784311 |
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL). Tsirikos AI, Mason DE, Scott CI Jr, Chang WN. Am J Med Genet A. 2003;119A(3):386-90. |
| Skeletal dysplasia | ||
| Adult Dwarfism Females Follow-Up Studies Homo sapiens Infant Joint Instability Osteochondrodysplasias | ||
| 4 (21.2%) |
8669438 |
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): a Brazilian case. Pina-Neto JM, Defino HL, Guedes ML, Jorge SM. Am J Med Genet. 1996;61(2):131-3. |
| Joint dislocation | ||
| Brazil Child, Preschool Dwarfism Females Genes, Recessive Homo sapiens Joint Instability Osteochondrodysplasias | ||
| 7 (4.0%) |
29230159 |
Spondyloepimetaphysial Dysplasia with Joint Laxity in Three Siblings with B3GALT6 Mutations. Trejo P, Rauch F, Glorieux FH, Ouellet J, Benaroch T, Campeau PM. Mol Syndromol. 2017;8(6):303-307. |
| Short stature | ||
| B3GALT6 | ||
| c|DUP|901_921|| c|SUB|C|511|T;RS#:765337103 | ||
| 7 (4.0%) |
25149931 |
A newborn with complex skeletal abnormalities, joint contractures, and bilateral corneal clouding with sclerocornea. Sellars EA, Bosanko KA, Lepard T, Garnica A, Schaefer GB. Semin Pediatr Neurol. 2014;21(2):84-7. |
| Sclerocornea | ||
| Arthropathy Bone and Bones Cornea Corneal Diseases Fatal Outcome Galactosyltransferases Homo sapiens Infant, Newborn Male |
Total: 32
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000343 | Long philtrum | Very frequent (99-80%) |
| HP:0000520 | Proptosis | Very frequent (99-80%) |
| HP:0000592 | Blue sclerae | Very frequent (99-80%) |
| HP:0000926 | Platyspondyly | Very frequent (99-80%) |
| HP:0000944 | Abnormality of the metaphysis | Very frequent (99-80%) |
| HP:0000974 | Hyperextensible skin | Very frequent (99-80%) |
| HP:0001373 | Joint dislocation | Very frequent (99-80%) |
| HP:0001762 | Talipes equinovarus | Very frequent (99-80%) |
| HP:0001773 | Short foot | Very frequent (99-80%) |
| HP:0002650 | Scoliosis | Very frequent (99-80%) |
| HP:0002651 | Spondyloepimetaphyseal dysplasia | Very frequent (99-80%) |
| HP:0002652 | Skeletal dysplasia | Very frequent (99-80%) |
| HP:0002808 | Kyphosis | Very frequent (99-80%) |
| HP:0002827 | Hip dislocation | Very frequent (99-80%) |
| HP:0002983 | Micromelia | Very frequent (99-80%) |
| HP:0003042 | Elbow dislocation | 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:0005930 | Abnormality of epiphysis morphology | Very frequent (99-80%) |
| HP:0011849 | Abnormal bone ossification | Very frequent (99-80%) |
| HP:0100866 | Short iliac bones | Very frequent (99-80%) |
| HP:0000175 | Cleft palate | Frequent (79-30%) |
| HP:0000218 | High palate | Frequent (79-30%) |
| HP:0003307 | Hyperlordosis | Frequent (79-30%) |
| HP:0000545 | Myopia | Occasional (29-5%) |
| HP:0001083 | Ectopia lentis | Occasional (29-5%) |
| HP:0001249 | Intellectual disability | Occasional (29-5%) |
| HP:0001263 | Global developmental delay | Occasional (29-5%) |
| HP:0001671 | Abnormal cardiac septum morphology | Occasional (29-5%) |
| HP:0002251 | Aganglionic megacolon | Occasional (29-5%) |
| HP:0100777 | Exostoses | Occasional (29-5%) |
Total: 3
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0002652 | Skeletal dysplasia | 2 |
| HP:0001373 | Joint dislocation | 1 |
| HP:0002651 | Spondyloepimetaphyseal dysplasia | 1 |