WINCHESTER SYNDROME
General Information (adopted from Orphanet):
Synonyms, Signs: |
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Number of Symptoms | 7 |
OrphanetNr: | |
OMIM Id: |
277950
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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:0000212) | Gingival overgrowth | 43 / 7739 | ||||
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(HPO:0000280) | Coarse facial features | 189 / 7739 | ||||
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(HPO:0007957) | Corneal opacity | 84 / 7739 | ||||
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(HPO:0003040) | Arthropathy | 19 / 7739 | ||||
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(HPO:0009134) | Osteolysis involving bones of the feet | 1 / 7739 | ||||
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(HPO:0040160) | Generalized osteoporosis | 7 / 7739 | ||||
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(HPO:0045039) | Osteolysis involving bones of the upper limbs | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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