Rank (Similarity) |
PMID (PMCID) |
---|
|
Total: 24
HPO ID | Term | Frequency |
---|---|---|
HP:0000054 | Micropenis | Very frequent (99-80%) |
HP:0000851 | Congenital hypothyroidism | Very frequent (99-80%) |
HP:0001249 | Intellectual disability | Very frequent (99-80%) |
HP:0001250 | Seizures | Very frequent (99-80%) |
HP:0001263 | Global developmental delay | Very frequent (99-80%) |
HP:0001631 | Atrial septal defect | Very frequent (99-80%) |
HP:0006934 | Congenital nystagmus | Very frequent (99-80%) |
HP:0008947 | Infantile muscular hypotonia | Very frequent (99-80%) |
HP:0000028 | Cryptorchidism | Frequent (79-30%) |
HP:0000252 | Microcephaly | Frequent (79-30%) |
HP:0000286 | Epicanthus | Frequent (79-30%) |
HP:0000565 | Esotropia | Frequent (79-30%) |
HP:0000766 | Abnormality of the sternum | Frequent (79-30%) |
HP:0000772 | Abnormality of the ribs | Frequent (79-30%) |
HP:0000773 | Short ribs | Frequent (79-30%) |
HP:0000885 | Broad ribs | Frequent (79-30%) |
HP:0001162 | Postaxial hand polydactyly | Frequent (79-30%) |
HP:0001629 | Ventricular septal defect | Frequent (79-30%) |
HP:0001643 | Patent ductus arteriosus | Frequent (79-30%) |
HP:0002079 | Hypoplasia of the corpus callosum | Frequent (79-30%) |
HP:0002092 | Pulmonary arterial hypertension | Frequent (79-30%) |
HP:0002098 | Respiratory distress | Frequent (79-30%) |
HP:0002558 | Supernumerary nipple | Frequent (79-30%) |
HP:0005989 | Redundant neck skin | Frequent (79-30%) |
Total: 0
HPO ID | Term | # of case reports |
---|
Total: 0
Gene Symbol | Gene Name | Entrez Gene ID |
---|