IMMUNODEFICIENCY 14
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 7 |
| OrphanetNr: | |
| OMIM Id: |
615513
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| ICD-10: |
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| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
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| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0001744) | Splenomegaly | 337 / 7739 | ||||
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(HPO:0004313) | Decreased antibody level in blood | 47 / 7739 | ||||
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(HPO:0005425) | Recurrent sinopulmonary infections | 10 / 7739 | ||||
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(HPO:0002110) | Bronchiectasis | 73 / 7739 | ||||
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(HPO:0002721) | Immunodeficiency | 97 / 7739 | ||||
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(HPO:0002716) | Lymphadenopathy | 129 / 7739 | ||||
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(HPO:0100658) | Cellulitis | 7 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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