INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2
General Information (adopted from Orphanet):
Synonyms, Signs: |
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Number of Symptoms | 7 |
OrphanetNr: | |
OMIM Id: |
616069
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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:0100501) | Recurrent bronchiolitis | 2 / 7739 | ||||
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(HPO:0002013) | Vomiting | 191 / 7739 | ||||
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(HPO:0001508) | Failure to thrive | 454 / 7739 | ||||
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(HPO:0200034) | Papule | 12 / 7739 | ||||
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(HPO:0200039) | Pustule | 20 / 7739 | ||||
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(HPO:0000822) | Hypertension | 224 / 7739 | ||||
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(HPO:0006532) | Recurrent pneumonia | 48 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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