| Rank (Similarity) |
PMID (PMCID) |
|---|
|
|
Total: 39
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0003139 | Panhypogammaglobulinemia | Very frequent (99-80%) |
| HP:0030355 | Abnormal serum interferon-gamma level | Very frequent (99-80%) |
| HP:0030782 | Abnormal serum interleukin level | Very frequent (99-80%) |
| HP:0040088 | Abnormal lymphocyte count | Very frequent (99-80%) |
| HP:0001433 | Hepatosplenomegaly | Frequent (79-30%) |
| HP:0001531 | Failure to thrive in infancy | Frequent (79-30%) |
| HP:0002205 | Recurrent respiratory infections | Frequent (79-30%) |
| HP:0002240 | Hepatomegaly | Frequent (79-30%) |
| HP:0002743 | Recurrent enteroviral infections | Frequent (79-30%) |
| HP:0002849 | Absence of lymph node germinal center | Frequent (79-30%) |
| HP:0004429 | Recurrent viral infections | Frequent (79-30%) |
| HP:0005403 | Decrease in T cell count | Frequent (79-30%) |
| HP:0012735 | Cough | Frequent (79-30%) |
| HP:0030374 | Decreased proportion of memory B cells | Frequent (79-30%) |
| HP:0031123 | Recurrent gastroenteritis | Frequent (79-30%) |
| HP:0000016 | Urinary retention | Occasional (29-5%) |
| HP:0000952 | Jaundice | Occasional (29-5%) |
| HP:0001269 | Hemiparesis | Occasional (29-5%) |
| HP:0001409 | Portal hypertension | Occasional (29-5%) |
| HP:0001541 | Ascites | Occasional (29-5%) |
| HP:0001873 | Thrombocytopenia | Occasional (29-5%) |
| HP:0001876 | Pancytopenia | Occasional (29-5%) |
| HP:0001903 | Anemia | Occasional (29-5%) |
| HP:0002014 | Diarrhea | Occasional (29-5%) |
| HP:0002069 | Generalized tonic-clonic seizures | Occasional (29-5%) |
| HP:0002100 | Recurrent aspiration pneumonia | Occasional (29-5%) |
| HP:0002206 | Pulmonary fibrosis | Occasional (29-5%) |
| HP:0002385 | Paraparesis | Occasional (29-5%) |
| HP:0002415 | Leukodystrophy | Occasional (29-5%) |
| HP:0002722 | Recurrent abscess formation | Occasional (29-5%) |
| HP:0002728 | Chronic mucocutaneous candidiasis | Occasional (29-5%) |
| HP:0002910 | Elevated hepatic transaminase | Occasional (29-5%) |
| HP:0010550 | Paraplegia | Occasional (29-5%) |
| HP:0031218 | Inappropriate antidiuretic hormone secretion | Occasional (29-5%) |
| HP:0040223 | Pulmonary hemorrhage | Occasional (29-5%) |
| HP:0100626 | Chronic hepatic failure | Occasional (29-5%) |
| HP:0410018 | Recurrent ear infections | Occasional (29-5%) |
| HP:0000252 | Microcephaly | Very rare (4-1%) |
| HP:0040089 | Abnormal natural killer cell count | Very rare (4-1%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|