| Rank (Similarity) |
PMID (PMCID) |
|---|
|
|
Total: 76
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000054 | Micropenis | Occasional (29-5%) |
| HP:0000076 | Vesicoureteral reflux | Occasional (29-5%) |
| HP:0000086 | Ectopic kidney | Occasional (29-5%) |
| HP:0000113 | Polycystic kidney dysplasia | Occasional (29-5%) |
| HP:0000126 | Hydronephrosis | Occasional (29-5%) |
| HP:0000161 | Median cleft lip | Occasional (29-5%) |
| HP:0000171 | Microglossia | Occasional (29-5%) |
| HP:0000248 | Brachycephaly | Occasional (29-5%) |
| HP:0000252 | Microcephaly | Occasional (29-5%) |
| HP:0000256 | Macrocephaly | Occasional (29-5%) |
| HP:0000260 | Wide anterior fontanel | Occasional (29-5%) |
| HP:0000280 | Coarse facial features | Occasional (29-5%) |
| HP:0000319 | Smooth philtrum | Occasional (29-5%) |
| HP:0000343 | Long philtrum | Occasional (29-5%) |
| HP:0000347 | Micrognathia | Occasional (29-5%) |
| HP:0000369 | Low-set ears | Occasional (29-5%) |
| HP:0000414 | Bulbous nose | Occasional (29-5%) |
| HP:0000463 | Anteverted nares | Occasional (29-5%) |
| HP:0000470 | Short neck | Occasional (29-5%) |
| HP:0000494 | Downslanted palpebral fissures | Occasional (29-5%) |
| HP:0000506 | Telecanthus | Occasional (29-5%) |
| HP:0000742 | Self-mutilation | Occasional (29-5%) |
| HP:0000750 | Delayed speech and language development | Occasional (29-5%) |
| HP:0000752 | Hyperactivity | Occasional (29-5%) |
| HP:0000819 | Diabetes mellitus | Occasional (29-5%) |
| HP:0000954 | Single transverse palmar crease | Occasional (29-5%) |
| HP:0001176 | Large hands | Occasional (29-5%) |
| HP:0001249 | Intellectual disability | Occasional (29-5%) |
| HP:0001263 | Global developmental delay | Occasional (29-5%) |
| HP:0001290 | Generalized hypotonia | Occasional (29-5%) |
| HP:0001510 | Growth delay | Occasional (29-5%) |
| HP:0001513 | Obesity | Occasional (29-5%) |
| HP:0001531 | Failure to thrive in infancy | Occasional (29-5%) |
| HP:0001611 | Nasal speech | Occasional (29-5%) |
| HP:0001643 | Patent ductus arteriosus | Occasional (29-5%) |
| HP:0001655 | Patent foramen ovale | Occasional (29-5%) |
| HP:0001734 | Annular pancreas | Occasional (29-5%) |
| HP:0001792 | Small nail | Occasional (29-5%) |
| HP:0001833 | Long foot | Occasional (29-5%) |
| HP:0001845 | Overlapping toe | Occasional (29-5%) |
| HP:0001999 | Abnormal facial shape | Occasional (29-5%) |
| HP:0002003 | Large forehead | Occasional (29-5%) |
| HP:0002007 | Frontal bossing | Occasional (29-5%) |
| HP:0002021 | Pyloric stenosis | Occasional (29-5%) |
| HP:0002032 | Esophageal atresia | Occasional (29-5%) |
| HP:0002194 | Delayed gross motor development | Occasional (29-5%) |
| HP:0002213 | Fine hair | Occasional (29-5%) |
| HP:0002247 | Duodenal atresia | Occasional (29-5%) |
| HP:0002705 | High, narrow palate | Occasional (29-5%) |
| HP:0002751 | Kyphoscoliosis | Occasional (29-5%) |
| HP:0002893 | Pituitary adenoma | Occasional (29-5%) |
| HP:0002987 | Elbow flexion contracture | Occasional (29-5%) |
| HP:0004209 | Clinodactyly of the 5th finger | Occasional (29-5%) |
| HP:0004322 | Short stature | Occasional (29-5%) |
| HP:0004691 | 2-3 toe syndactyly | Occasional (29-5%) |
| HP:0004904 | Maturity-onset diabetes of the young | Occasional (29-5%) |
| HP:0005129 | Congenital hypertrophy of left ventricle | Occasional (29-5%) |
| HP:0005819 | Short middle phalanx of finger | Occasional (29-5%) |
| HP:0005912 | Biliary atresia | Occasional (29-5%) |
| HP:0006533 | Bronchodysplasia | Occasional (29-5%) |
| HP:0007328 | Impaired pain sensation | Occasional (29-5%) |
| HP:0007573 | Late onset atopic dermatitis | Occasional (29-5%) |
| HP:0008081 | Pes valgus | Occasional (29-5%) |
| HP:0008499 | High hypermetropia | Occasional (29-5%) |
| HP:0008513 | Bilateral conductive hearing impairment | Occasional (29-5%) |
| HP:0008551 | Microtia | Occasional (29-5%) |
| HP:0008770 | Obsessive-compulsive trait | Occasional (29-5%) |
| HP:0009437 | Aplasia/Hypoplasia of the middle phalanx of the 3rd finger | Occasional (29-5%) |
| HP:0009891 | Underdeveloped supraorbital ridges | Occasional (29-5%) |
| HP:0009904 | Prominent ear helix | Occasional (29-5%) |
| HP:0010055 | Broad hallux | Occasional (29-5%) |
| HP:0010818 | Generalized tonic seizures | Occasional (29-5%) |
| HP:0011069 | Increased number of teeth | Occasional (29-5%) |
| HP:0011407 | Proportionate tall stature | Occasional (29-5%) |
| HP:0012368 | Flat face | Occasional (29-5%) |
| HP:0012741 | Unilateral cryptorchidism | Occasional (29-5%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|