Rank (Similarity) |
PMID (PMCID) |
---|
|
Total: 21
HPO ID | Term | Frequency |
---|---|---|
HP:0000944 | Abnormality of the metaphysis | Very frequent (99-80%) |
HP:0001156 | Brachydactyly | Very frequent (99-80%) |
HP:0001163 | Abnormality of the metacarpal bones | Very frequent (99-80%) |
HP:0001385 | Hip dysplasia | Very frequent (99-80%) |
HP:0002644 | Abnormality of pelvic girdle bone morphology | Very frequent (99-80%) |
HP:0002650 | Scoliosis | Very frequent (99-80%) |
HP:0002652 | Skeletal dysplasia | Very frequent (99-80%) |
HP:0003312 | Abnormal form of the vertebral bodies | Very frequent (99-80%) |
HP:0004209 | Clinodactyly of the 5th finger | Very frequent (99-80%) |
HP:0004322 | Short stature | Very frequent (99-80%) |
HP:0004349 | Reduced bone mineral density | Very frequent (99-80%) |
HP:0000520 | Proptosis | Frequent (79-30%) |
HP:0001511 | Intrauterine growth retardation | Frequent (79-30%) |
HP:0000160 | Narrow mouth | Occasional (29-5%) |
HP:0000233 | Thin vermilion border | Occasional (29-5%) |
HP:0000368 | Low-set, posteriorly rotated ears | Occasional (29-5%) |
HP:0000486 | Strabismus | Occasional (29-5%) |
HP:0001263 | Global developmental delay | Occasional (29-5%) |
HP:0001671 | Abnormal cardiac septum morphology | Occasional (29-5%) |
HP:0003196 | Short nose | Occasional (29-5%) |
HP:0007957 | Corneal opacity | Occasional (29-5%) |
Total: 0
HPO ID | Term | # of case reports |
---|
Total: 0
Gene Symbol | Gene Name | Entrez Gene ID |
---|