| Rank (Similarity) |
PMID (PMCID) |
|---|
|
|
Total: 29
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000256 | Macrocephaly | Very frequent (99-80%) |
| HP:0000944 | Abnormality of the metaphysis | Very frequent (99-80%) |
| HP:0001163 | Abnormality of the metacarpal bones | Very frequent (99-80%) |
| HP:0001369 | Arthritis | Very frequent (99-80%) |
| HP:0001373 | Joint dislocation | Very frequent (99-80%) |
| HP:0002007 | Frontal bossing | Very frequent (99-80%) |
| HP:0002653 | Bone pain | Very frequent (99-80%) |
| HP:0002754 | Osteomyelitis | Very frequent (99-80%) |
| HP:0002757 | Recurrent fractures | Very frequent (99-80%) |
| HP:0002758 | Osteoarthritis | Very frequent (99-80%) |
| HP:0005789 | Generalized osteosclerosis | Very frequent (99-80%) |
| HP:0005930 | Abnormality of epiphysis morphology | Very frequent (99-80%) |
| HP:0006824 | Cranial nerve paralysis | Very frequent (99-80%) |
| HP:0007626 | Mandibular osteomyelitis | Very frequent (99-80%) |
| HP:0009882 | Short distal phalanx of finger | Very frequent (99-80%) |
| HP:0010628 | Facial palsy | Very frequent (99-80%) |
| HP:0010885 | Avascular necrosis | Very frequent (99-80%) |
| HP:0000164 | Abnormality of the dentition | Frequent (79-30%) |
| HP:0000505 | Visual impairment | Frequent (79-30%) |
| HP:0000648 | Optic atrophy | Frequent (79-30%) |
| HP:0001903 | Anemia | Frequent (79-30%) |
| HP:0002857 | Genu valgum | Frequent (79-30%) |
| HP:0004322 | Short stature | Frequent (79-30%) |
| HP:0000238 | Hydrocephalus | Occasional (29-5%) |
| HP:0000365 | Hearing impairment | Occasional (29-5%) |
| HP:0000618 | Blindness | Occasional (29-5%) |
| HP:0000670 | Carious teeth | Occasional (29-5%) |
| HP:0001881 | Abnormal leukocyte morphology | Occasional (29-5%) |
| HP:0002901 | Hypocalcemia | Occasional (29-5%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|