Rank (Similarity) |
PMID (PMCID) |
---|
|
Total: 25
HPO ID | Term | Frequency |
---|---|---|
HP:0000766 | Abnormality of the sternum | Very frequent (99-80%) |
HP:0000926 | Platyspondyly | Very frequent (99-80%) |
HP:0000944 | Abnormality of the metaphysis | Very frequent (99-80%) |
HP:0002651 | Spondyloepimetaphyseal dysplasia | Very frequent (99-80%) |
HP:0002983 | Micromelia | Very frequent (99-80%) |
HP:0003307 | Hyperlordosis | Very frequent (99-80%) |
HP:0003498 | Disproportionate short stature | Very frequent (99-80%) |
HP:0005930 | Abnormality of epiphysis morphology | Very frequent (99-80%) |
HP:0010306 | Short thorax | Very frequent (99-80%) |
HP:0000175 | Cleft palate | Frequent (79-30%) |
HP:0000316 | Hypertelorism | Frequent (79-30%) |
HP:0000541 | Retinal detachment | Frequent (79-30%) |
HP:0000545 | Myopia | Frequent (79-30%) |
HP:0001288 | Gait disturbance | Frequent (79-30%) |
HP:0002758 | Osteoarthritis | Frequent (79-30%) |
HP:0002808 | Kyphosis | Frequent (79-30%) |
HP:0002812 | Coxa vara | Frequent (79-30%) |
HP:0002857 | Genu valgum | Frequent (79-30%) |
HP:0012368 | Flat face | Frequent (79-30%) |
HP:0100864 | Short femoral neck | Frequent (79-30%) |
HP:0001762 | Talipes equinovarus | Occasional (29-5%) |
HP:0002098 | Respiratory distress | Occasional (29-5%) |
HP:0002650 | Scoliosis | Occasional (29-5%) |
HP:0002970 | Genu varum | Occasional (29-5%) |
HP:0003311 | Hypoplasia of the odontoid process | Occasional (29-5%) |
Total: 0
HPO ID | Term | # of case reports |
---|