MITCHELL-RILEY SYNDROME
General Information (adopted from Orphanet):
Synonyms, Signs: |
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Number of Symptoms | 13 |
OrphanetNr: | |
OMIM Id: |
615710
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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:0011467) | Absent gallbladder | 6 / 7739 | ||||
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(HPO:0011985) | Acholic stools | 6 / 7739 | ||||
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(HPO:0002024) | Malabsorption | 142 / 7739 | ||||
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(HPO:0002014) | Diarrhea | 225 / 7739 | ||||
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(HPO:0002566) | Intestinal malrotation | 89 / 7739 | ||||
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(HPO:0001545) | Anteriorly placed anus | rare [HPO:skoehler] | 55 / 7739 | |||
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(HPO:0005235) | Jejunal atresia | 3 / 7739 | ||||
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(HPO:0002247) | Duodenal atresia | 13 / 7739 | ||||
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(HPO:0005912) | Biliary atresia | 5 / 7739 | ||||
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(HPO:0001511) | Intrauterine growth retardation | 358 / 7739 | ||||
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(HPO:0002904) | Hyperbilirubinemia | 32 / 7739 | ||||
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(HPO:0003074) | Hyperglycemia | 37 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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