| Rank (Similarity) |
PMID (PMCID) |
|---|
|
|
Total: 27
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000077 | Abnormality of the kidney | Frequent (79-30%) |
| HP:0000248 | Brachycephaly | Frequent (79-30%) |
| HP:0000252 | Microcephaly | Frequent (79-30%) |
| HP:0000303 | Mandibular prognathia | Frequent (79-30%) |
| HP:0000321 | Square face | Frequent (79-30%) |
| HP:0000322 | Short philtrum | Frequent (79-30%) |
| HP:0000400 | Macrotia | Frequent (79-30%) |
| HP:0000431 | Wide nasal bridge | Frequent (79-30%) |
| HP:0000541 | Retinal detachment | Frequent (79-30%) |
| HP:0000545 | Myopia | Frequent (79-30%) |
| HP:0000557 | Buphthalmos | Frequent (79-30%) |
| HP:0000558 | Rieger anomaly | Frequent (79-30%) |
| HP:0000696 | Delayed eruption of permanent teeth | Frequent (79-30%) |
| HP:0000787 | Nephrolithiasis | Frequent (79-30%) |
| HP:0000851 | Congenital hypothyroidism | Frequent (79-30%) |
| HP:0001182 | Tapered finger | Frequent (79-30%) |
| HP:0001848 | Calcaneovalgus deformity | Frequent (79-30%) |
| HP:0002076 | Migraine | Frequent (79-30%) |
| HP:0005487 | Prominent metopic ridge | Frequent (79-30%) |
| HP:0005990 | Thyroid hypoplasia | Frequent (79-30%) |
| HP:0008007 | Primary congenital glaucoma | Frequent (79-30%) |
| HP:0008619 | Bilateral sensorineural hearing impairment | Frequent (79-30%) |
| HP:0010490 | Abnormality of the palmar creases | Frequent (79-30%) |
| HP:0010804 | Tented upper lip vermilion | Frequent (79-30%) |
| HP:0012448 | Delayed myelination | Frequent (79-30%) |
| HP:0020038 | Vertebrobasilar dolichoectasia | Frequent (79-30%) |
| HP:0100807 | Long fingers | Frequent (79-30%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|