Rank (Similarity) |
PMID (PMCID) |
---|
|
Total: 26
HPO ID | Term | Frequency |
---|---|---|
HP:0000248 | Brachycephaly | Very frequent (99-80%) |
HP:0000272 | Malar flattening | Very frequent (99-80%) |
HP:0000368 | Low-set, posteriorly rotated ears | Very frequent (99-80%) |
HP:0000370 | Abnormality of the middle ear | Very frequent (99-80%) |
HP:0000405 | Conductive hearing impairment | Very frequent (99-80%) |
HP:0000413 | Atresia of the external auditory canal | Very frequent (99-80%) |
HP:0000463 | Anteverted nares | Very frequent (99-80%) |
HP:0001249 | Intellectual disability | Very frequent (99-80%) |
HP:0001545 | Anteriorly placed anus | Very frequent (99-80%) |
HP:0001629 | Ventricular septal defect | Very frequent (99-80%) |
HP:0002007 | Frontal bossing | Very frequent (99-80%) |
HP:0009623 | Proximal placement of thumb | Very frequent (99-80%) |
HP:0000486 | Strabismus | Frequent (79-30%) |
HP:0000772 | Abnormality of the ribs | Frequent (79-30%) |
HP:0000776 | Congenital diaphragmatic hernia | Frequent (79-30%) |
HP:0000921 | Missing ribs | Frequent (79-30%) |
HP:0001252 | Muscular hypotonia | Frequent (79-30%) |
HP:0001537 | Umbilical hernia | Frequent (79-30%) |
HP:0002093 | Respiratory insufficiency | Frequent (79-30%) |
HP:0002650 | Scoliosis | Frequent (79-30%) |
HP:0003272 | Abnormality of the hip bone | Frequent (79-30%) |
HP:0004322 | Short stature | Frequent (79-30%) |
HP:0004349 | Reduced bone mineral density | Frequent (79-30%) |
HP:0005692 | Joint hyperflexibility | Frequent (79-30%) |
HP:0007477 | Abnormal dermatoglyphics | Frequent (79-30%) |
HP:0100490 | Camptodactyly of finger | Frequent (79-30%) |
Total: 0
HPO ID | Term | # of case reports |
---|
Total: 0
Gene Symbol | Gene Name | Entrez Gene ID |
---|