CONGENITAL SHORT BOWEL SYNDROME
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 5 |
| OrphanetNr: | |
| OMIM Id: |
615237
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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:0002028) | Chronic diarrhea | 51 / 7739 | ||||
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(HPO:0002013) | Vomiting | rare [HPO:skoehler] | 191 / 7739 | |||
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(HPO:0002566) | Intestinal malrotation | 89 / 7739 | ||||
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(HPO:0002570) | Steatorrhea | 31 / 7739 | ||||
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(HPO:0001508) | Failure to thrive | 454 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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