| Rank (Similarity) |
PMID (PMCID) |
|---|
|
|
Total: 60
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000054 | Micropenis | Occasional (29-5%) |
| HP:0000107 | Renal cyst | Occasional (29-5%) |
| HP:0000154 | Wide mouth | Occasional (29-5%) |
| HP:0000175 | Cleft palate | Occasional (29-5%) |
| HP:0000179 | Thick lower lip vermilion | Occasional (29-5%) |
| HP:0000188 | Short upper lip | Occasional (29-5%) |
| HP:0000202 | Oral cleft | Occasional (29-5%) |
| HP:0000237 | Small anterior fontanelle | Occasional (29-5%) |
| HP:0000256 | Macrocephaly | Occasional (29-5%) |
| HP:0000280 | Coarse facial features | Occasional (29-5%) |
| HP:0000308 | Microretrognathia | Occasional (29-5%) |
| HP:0000324 | Facial asymmetry | Occasional (29-5%) |
| HP:0000369 | Low-set ears | Occasional (29-5%) |
| HP:0000377 | Abnormality of the pinna | Occasional (29-5%) |
| HP:0000431 | Wide nasal bridge | Occasional (29-5%) |
| HP:0000494 | Downslanted palpebral fissures | Occasional (29-5%) |
| HP:0000568 | Microphthalmia | Occasional (29-5%) |
| HP:0000776 | Congenital diaphragmatic hernia | Occasional (29-5%) |
| HP:0000803 | Renal cortical cysts | Occasional (29-5%) |
| HP:0000954 | Single transverse palmar crease | Occasional (29-5%) |
| HP:0001032 | Absent distal interphalangeal creases | Occasional (29-5%) |
| HP:0001166 | Arachnodactyly | Occasional (29-5%) |
| HP:0001188 | Hand clenching | Occasional (29-5%) |
| HP:0001195 | Single umbilical artery | Occasional (29-5%) |
| HP:0001233 | 2-3 finger syndactyly | Occasional (29-5%) |
| HP:0001274 | Agenesis of corpus callosum | Occasional (29-5%) |
| HP:0001320 | Cerebellar vermis hypoplasia | Occasional (29-5%) |
| HP:0001321 | Cerebellar hypoplasia | Occasional (29-5%) |
| HP:0001539 | Omphalocele | Occasional (29-5%) |
| HP:0001561 | Polyhydramnios | Occasional (29-5%) |
| HP:0001629 | Ventricular septal defect | Occasional (29-5%) |
| HP:0001680 | Coarctation of aorta | Occasional (29-5%) |
| HP:0001770 | Toe syndactyly | Occasional (29-5%) |
| HP:0001792 | Small nail | Occasional (29-5%) |
| HP:0001837 | Broad toe | Occasional (29-5%) |
| HP:0001838 | Rocker bottom foot | Occasional (29-5%) |
| HP:0002007 | Frontal bossing | Occasional (29-5%) |
| HP:0002089 | Pulmonary hypoplasia | Occasional (29-5%) |
| HP:0002126 | Polymicrogyria | Occasional (29-5%) |
| HP:0002280 | Enlarged cisterna magna | Occasional (29-5%) |
| HP:0002342 | Intellectual disability, moderate | Occasional (29-5%) |
| HP:0002943 | Thoracic scoliosis | Occasional (29-5%) |
| HP:0002987 | Elbow flexion contracture | Occasional (29-5%) |
| HP:0003244 | Penile hypospadias | Occasional (29-5%) |
| HP:0004935 | Pulmonary artery atresia | Occasional (29-5%) |
| HP:0005280 | Depressed nasal bridge | Occasional (29-5%) |
| HP:0006956 | Dilation of lateral ventricles | Occasional (29-5%) |
| HP:0007291 | Posterior fossa cyst | Occasional (29-5%) |
| HP:0007759 | Opacification of the corneal stroma | Occasional (29-5%) |
| HP:0007911 | Congenital bilateral ptosis | Occasional (29-5%) |
| HP:0009943 | Complete duplication of thumb phalanx | Occasional (29-5%) |
| HP:0010344 | Deviation of the 5th toe | Occasional (29-5%) |
| HP:0010511 | Long toe | Occasional (29-5%) |
| HP:0010880 | Increased nuchal translucency | Occasional (29-5%) |
| HP:0012553 | Hypoplastic thumbnail | Occasional (29-5%) |
| HP:0040019 | Finger clinodactyly | Occasional (29-5%) |
| HP:0045086 | Knee joint hypermobility | Occasional (29-5%) |
| HP:0100040 | Broad 2nd toe | Occasional (29-5%) |
| HP:0100490 | Camptodactyly of finger | Occasional (29-5%) |
| HP:0100839 | Hepatic agenesis | Occasional (29-5%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|