Rank (Similarity) |
PMID (PMCID) |
---|
|
Total: 32
HPO ID | Term | Frequency |
---|---|---|
HP:0000248 | Brachycephaly | Very frequent (99-80%) |
HP:0000252 | Microcephaly | Very frequent (99-80%) |
HP:0000316 | Hypertelorism | Very frequent (99-80%) |
HP:0000337 | Broad forehead | Very frequent (99-80%) |
HP:0000506 | Telecanthus | Very frequent (99-80%) |
HP:0000668 | Hypodontia | Very frequent (99-80%) |
HP:0001276 | Hypertonia | Very frequent (99-80%) |
HP:0002006 | Facial cleft | Very frequent (99-80%) |
HP:0002007 | Frontal bossing | Very frequent (99-80%) |
HP:0002558 | Supernumerary nipple | Very frequent (99-80%) |
HP:0002650 | Scoliosis | Very frequent (99-80%) |
HP:0007477 | Abnormal dermatoglyphics | Very frequent (99-80%) |
HP:0007598 | Bilateral single transverse palmar creases | Very frequent (99-80%) |
HP:0009748 | Large earlobe | Very frequent (99-80%) |
HP:0010751 | Dimple chin | Very frequent (99-80%) |
HP:0011304 | Broad thumb | Very frequent (99-80%) |
HP:0100022 | Abnormality of movement | Very frequent (99-80%) |
HP:0100543 | Cognitive impairment | Very frequent (99-80%) |
HP:0100720 | Hypoplasia of the ear cartilage | Very frequent (99-80%) |
HP:0000174 | Abnormal palate morphology | Frequent (79-30%) |
HP:0000303 | Mandibular prognathia | Frequent (79-30%) |
HP:0000324 | Facial asymmetry | Frequent (79-30%) |
HP:0000384 | Preauricular skin tag | Frequent (79-30%) |
HP:0000486 | Strabismus | Frequent (79-30%) |
HP:0000568 | Microphthalmia | Frequent (79-30%) |
HP:0000592 | Blue sclerae | Frequent (79-30%) |
HP:0000612 | Iris coloboma | Frequent (79-30%) |
HP:0000765 | Abnormality of the thorax | Frequent (79-30%) |
HP:0001182 | Tapered finger | Frequent (79-30%) |
HP:0001250 | Seizures | Frequent (79-30%) |
HP:0100267 | Lip pit | 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 |
---|