| Rank (Similarity) |
PMID (PMCID) |
|---|
|
|
Total: 55
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000852 | Pseudohypoparathyroidism | Obligate (100%) |
| 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:0003456 | Low urinary cyclic AMP response to PTH administration | Very frequent (99-80%) |
| HP:0008227 | Pituitary resistance to thyroid hormone | Very frequent (99-80%) |
| HP:0000293 | Full cheeks | Frequent (79-30%) |
| HP:0000311 | Round face | Frequent (79-30%) |
| HP:0000470 | Short neck | Frequent (79-30%) |
| HP:0000518 | Cataract | Frequent (79-30%) |
| HP:0000639 | Nystagmus | Frequent (79-30%) |
| HP:0000684 | Delayed eruption of teeth | Frequent (79-30%) |
| HP:0000824 | Growth hormone deficiency | Frequent (79-30%) |
| HP:0001156 | Brachydactyly | Frequent (79-30%) |
| HP:0001249 | Intellectual disability | Frequent (79-30%) |
| HP:0001513 | Obesity | Frequent (79-30%) |
| HP:0002135 | Basal ganglia calcification | Frequent (79-30%) |
| HP:0002591 | Polyphagia | Frequent (79-30%) |
| HP:0004322 | Short stature | Frequent (79-30%) |
| HP:0004704 | Short fifth metatarsal | Frequent (79-30%) |
| HP:0005280 | Depressed nasal bridge | Frequent (79-30%) |
| HP:0006297 | Hypoplasia of dental enamel | Frequent (79-30%) |
| HP:0006960 | Choroid plexus calcification | Frequent (79-30%) |
| HP:0010044 | Short 4th metacarpal | Frequent (79-30%) |
| HP:0010047 | Short 5th metacarpal | Frequent (79-30%) |
| HP:0010049 | Short metacarpal | Frequent (79-30%) |
| HP:0010743 | Short metatarsal | Frequent (79-30%) |
| HP:0011986 | Ectopic ossification | Frequent (79-30%) |
| HP:0012185 | Constrictive median neuropathy | Frequent (79-30%) |
| HP:0000509 | Conjunctivitis | Occasional (29-5%) |
| HP:0000716 | Depressivity | Occasional (29-5%) |
| HP:0000737 | Irritability | Occasional (29-5%) |
| HP:0000739 | Anxiety | Occasional (29-5%) |
| HP:0000815 | Hypergonadotropic hypogonadism | Occasional (29-5%) |
| HP:0000876 | Oligomenorrhea | Occasional (29-5%) |
| HP:0001265 | Hyporeflexia | Occasional (29-5%) |
| HP:0001289 | Confusion | Occasional (29-5%) |
| HP:0001657 | Prolonged QT interval | Occasional (29-5%) |
| HP:0002094 | Dyspnea | Occasional (29-5%) |
| HP:0002514 | Cerebral calcification | Occasional (29-5%) |
| HP:0003394 | Muscle spasm | Occasional (29-5%) |
| HP:0003401 | Paresthesia | Occasional (29-5%) |
| HP:0003472 | Hypocalcemic tetany | Occasional (29-5%) |
| HP:0003739 | Myoclonic spasms | Occasional (29-5%) |
| HP:0003761 | Calcinosis | Occasional (29-5%) |
| HP:0009642 | Broad distal phalanx of the thumb | Occasional (29-5%) |
| HP:0010041 | Short 3rd metacarpal | Occasional (29-5%) |
| HP:0011001 | Increased bone mineral density | Occasional (29-5%) |
| HP:0011458 | Abdominal symptom | Occasional (29-5%) |
| HP:0012049 | Laryngeal dystonia | Occasional (29-5%) |
| HP:0025027 | Osteoma cutis | Occasional (29-5%) |
| HP:0100749 | Chest pain | Occasional (29-5%) |
| HP:0002199 | Hypocalcemic seizures | Very rare (4-1%) |
| HP:0008202 | Prolactin deficiency | Very rare (4-1%) |
| HP:0030057 | Autoimmune antibody positivity | Excluded (0%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|