Rank (Similarity) |
PMID (PMCID) |
---|
|
Total: 60
HPO ID | Term | Frequency |
---|---|---|
HP:0000319 | Smooth philtrum | Very frequent (99-80%) |
HP:0001249 | Intellectual disability | Very frequent (99-80%) |
HP:0001263 | Global developmental delay | Very frequent (99-80%) |
HP:0001622 | Premature birth | Very frequent (99-80%) |
HP:0002463 | Language impairment | Very frequent (99-80%) |
HP:0002553 | Highly arched eyebrow | Very frequent (99-80%) |
HP:0004322 | Short stature | Very frequent (99-80%) |
HP:0000219 | Thin upper lip vermilion | Frequent (79-30%) |
HP:0000252 | Microcephaly | Frequent (79-30%) |
HP:0000307 | Pointed chin | Frequent (79-30%) |
HP:0000363 | Abnormality of earlobe | Frequent (79-30%) |
HP:0000430 | Underdeveloped nasal alae | Frequent (79-30%) |
HP:0000490 | Deeply set eye | Frequent (79-30%) |
HP:0001511 | Intrauterine growth retardation | Frequent (79-30%) |
HP:0001660 | Truncus arteriosus | Frequent (79-30%) |
HP:0001763 | Pes planus | Frequent (79-30%) |
HP:0001802 | Absent toenail | Frequent (79-30%) |
HP:0001817 | Absent fingernail | Frequent (79-30%) |
HP:0002664 | Neoplasm | Frequent (79-30%) |
HP:0004209 | Clinodactyly of the 5th finger | Frequent (79-30%) |
HP:0000010 | Recurrent urinary tract infections | Occasional (29-5%) |
HP:0000023 | Inguinal hernia | Occasional (29-5%) |
HP:0000160 | Narrow mouth | Occasional (29-5%) |
HP:0000175 | Cleft palate | Occasional (29-5%) |
HP:0000272 | Malar flattening | Occasional (29-5%) |
HP:0000276 | Long face | Occasional (29-5%) |
HP:0000324 | Facial asymmetry | Occasional (29-5%) |
HP:0000407 | Sensorineural hearing impairment | Occasional (29-5%) |
HP:0000426 | Prominent nasal bridge | Occasional (29-5%) |
HP:0000453 | Choanal atresia | Occasional (29-5%) |
HP:0000581 | Blepharophimosis | Occasional (29-5%) |
HP:0000657 | Oculomotor apraxia | Occasional (29-5%) |
HP:0000716 | Depressivity | Occasional (29-5%) |
HP:0000722 | Obsessive-compulsive behavior | Occasional (29-5%) |
HP:0001166 | Arachnodactyly | Occasional (29-5%) |
HP:0001250 | Seizures | Occasional (29-5%) |
HP:0001510 | Growth delay | Occasional (29-5%) |
HP:0001629 | Ventricular septal defect | Occasional (29-5%) |
HP:0001631 | Atrial septal defect | Occasional (29-5%) |
HP:0001659 | Aortic regurgitation | Occasional (29-5%) |
HP:0001770 | Toe syndactyly | Occasional (29-5%) |
HP:0001852 | Sandal gap | Occasional (29-5%) |
HP:0002021 | Pyloric stenosis | Occasional (29-5%) |
HP:0002205 | Recurrent respiratory infections | Occasional (29-5%) |
HP:0002607 | Bowel incontinence | Occasional (29-5%) |
HP:0002673 | Coxa valga | Occasional (29-5%) |
HP:0002705 | High, narrow palate | Occasional (29-5%) |
HP:0002721 | Immunodeficiency | Occasional (29-5%) |
HP:0003307 | Hyperlordosis | Occasional (29-5%) |
HP:0004279 | Short palm | Occasional (29-5%) |
HP:0004942 | Aortic aneurysm | Occasional (29-5%) |
HP:0005692 | Joint hyperflexibility | Occasional (29-5%) |
HP:0006487 | Bowing of the long bones | Occasional (29-5%) |
HP:0007018 | Attention deficit hyperactivity disorder | Occasional (29-5%) |
HP:0009465 | Ulnar deviation of finger | Occasional (29-5%) |
HP:0009795 | Branchial fistula | Occasional (29-5%) |
HP:0009882 | Short distal phalanx of finger | Occasional (29-5%) |
HP:0010296 | Ankyloglossia | Occasional (29-5%) |
HP:0100033 | Tics | Occasional (29-5%) |
HP:0100490 | Camptodactyly of finger | Occasional (29-5%) |
Total: 0
HPO ID | Term | # of case reports |
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