Rank (Similarity) |
PMID (PMCID) |
---|
|
Total: 31
HPO ID | Term | Frequency |
---|---|---|
HP:0000768 | Pectus carinatum | Very frequent (99-80%) |
HP:0000926 | Platyspondyly | Very frequent (99-80%) |
HP:0000944 | Abnormality of the metaphysis | Very frequent (99-80%) |
HP:0001249 | Intellectual disability | Very frequent (99-80%) |
HP:0001263 | Global developmental delay | Very frequent (99-80%) |
HP:0002652 | Skeletal dysplasia | Very frequent (99-80%) |
HP:0002827 | Hip dislocation | Very frequent (99-80%) |
HP:0002857 | Genu valgum | Very frequent (99-80%) |
HP:0002867 | Abnormality of the ilium | Very frequent (99-80%) |
HP:0002983 | Micromelia | Very frequent (99-80%) |
HP:0003272 | Abnormality of the hip bone | 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:0000252 | Microcephaly | Frequent (79-30%) |
HP:0000280 | Coarse facial features | Frequent (79-30%) |
HP:0000340 | Sloping forehead | Frequent (79-30%) |
HP:0000470 | Short neck | Frequent (79-30%) |
HP:0001387 | Joint stiffness | Frequent (79-30%) |
HP:0002167 | Neurological speech impairment | Frequent (79-30%) |
HP:0002650 | Scoliosis | Frequent (79-30%) |
HP:0002808 | Kyphosis | Frequent (79-30%) |
HP:0003019 | Abnormality of the wrist | Frequent (79-30%) |
HP:0003307 | Hyperlordosis | Frequent (79-30%) |
HP:0003311 | Hypoplasia of the odontoid process | Frequent (79-30%) |
HP:0003416 | Spinal canal stenosis | Frequent (79-30%) |
HP:0003521 | Disproportionate short-trunk short stature | Frequent (79-30%) |
HP:0008897 | Postnatal growth retardation | Frequent (79-30%) |
HP:0000717 | Autism | Occasional (29-5%) |
HP:0003834 | Shoulder dislocation | Occasional (29-5%) |
HP:0007018 | Attention deficit hyperactivity disorder | Occasional (29-5%) |
Total: 0
HPO ID | Term | # of case reports |
---|