| Rank (Similarity) |
PMID (PMCID) |
|---|
|
|
Total: 46
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000852 | Pseudohypoparathyroidism | Obligate (100%) |
| HP:0000028 | Cryptorchidism | Very frequent (99-80%) |
| HP:0000047 | Hypospadias | Very frequent (99-80%) |
| HP:0000272 | Malar flattening | Very frequent (99-80%) |
| HP:0000303 | Mandibular prognathia | Very frequent (99-80%) |
| HP:0000311 | Round face | Very frequent (99-80%) |
| HP:0000463 | Anteverted nares | Very frequent (99-80%) |
| HP:0000750 | Delayed speech and language development | Very frequent (99-80%) |
| HP:0000851 | Congenital hypothyroidism | Very frequent (99-80%) |
| HP:0001156 | Brachydactyly | Very frequent (99-80%) |
| HP:0001249 | Intellectual disability | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0001328 | Specific learning disability | Very frequent (99-80%) |
| HP:0001511 | Intrauterine growth retardation | Very frequent (99-80%) |
| HP:0001831 | Short toe | Very frequent (99-80%) |
| HP:0002516 | Increased intracranial pressure | Very frequent (99-80%) |
| HP:0002901 | Hypocalcemia | Very frequent (99-80%) |
| HP:0002905 | Hyperphosphatemia | Very frequent (99-80%) |
| HP:0003165 | Elevated circulating parathyroid hormone level | Very frequent (99-80%) |
| HP:0003528 | Elevated calcitonin | Very frequent (99-80%) |
| HP:0004646 | Hypoplasia of the nasal bone | Very frequent (99-80%) |
| HP:0005280 | Depressed nasal bridge | Very frequent (99-80%) |
| HP:0005305 | Cerebral venous thrombosis | Very frequent (99-80%) |
| HP:0005453 | Absent/hypoplastic paranasal sinuses | Very frequent (99-80%) |
| HP:0005616 | Accelerated skeletal maturation | Very frequent (99-80%) |
| HP:0008450 | Narrow vertebral interpedicular distance | Very frequent (99-80%) |
| HP:0008479 | Hypoplastic vertebral bodies | Very frequent (99-80%) |
| HP:0008497 | Congenital craniofacial dysostosis | Very frequent (99-80%) |
| HP:0009803 | Short phalanx of finger | Very frequent (99-80%) |
| HP:0010049 | Short metacarpal | Very frequent (99-80%) |
| HP:0010579 | Cone-shaped epiphysis | Very frequent (99-80%) |
| HP:0010743 | Short metatarsal | Very frequent (99-80%) |
| HP:0011800 | Midface retrusion | Very frequent (99-80%) |
| HP:0000135 | Hypogonadism | Frequent (79-30%) |
| HP:0000717 | Autism | Frequent (79-30%) |
| HP:0000752 | Hyperactivity | Frequent (79-30%) |
| HP:0000819 | Diabetes mellitus | Frequent (79-30%) |
| HP:0000824 | Growth hormone deficiency | Frequent (79-30%) |
| HP:0001513 | Obesity | Frequent (79-30%) |
| HP:0002650 | Scoliosis | Frequent (79-30%) |
| HP:0003416 | Spinal canal stenosis | Frequent (79-30%) |
| HP:0003502 | Mild short stature | Frequent (79-30%) |
| HP:0000635 | Blue irides | Occasional (29-5%) |
| HP:0002286 | Fair hair | Occasional (29-5%) |
| HP:0002297 | Red hair | Occasional (29-5%) |
| HP:0003456 | Low urinary cyclic AMP response to PTH administration | Excluded (0%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|