PACHYONYCHIA CONGENITA 3
General Information (adopted from Orphanet):
Synonyms, Signs: |
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Number of Symptoms | 11 |
OrphanetNr: | |
OMIM Id: |
615726
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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:0000230) | Gingivitis | 31 / 7739 | ||||
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(HPO:0000221) | Furrowed tongue | 24 / 7739 | ||||
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(HPO:0002745) | Oral leukoplakia | 17 / 7739 | ||||
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(HPO:0010765) | Palmar hyperkeratosis | 3 / 7739 | ||||
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(HPO:0007556) | Plantar hyperkeratosis | 8 / 7739 | ||||
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(HPO:0000982) | Palmoplantar keratoderma | 40 / 7739 | ||||
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(HPO:0200040) | Epidermoid cyst | 35 / 7739 | ||||
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(HPO:0008401) | Onychogryposis of toenails | 4 / 7739 | ||||
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(HPO:0008404) | Nail dystrophy | 89 / 7739 | ||||
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(HPO:0000975) | Hyperhidrosis | 64 / 7739 | ||||
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(HPO:0040181) | Chapped lip | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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