PALMOPLANTAR KERATODERMA AND WOOLLY HAIR
General Information (adopted from Orphanet):
Synonyms, Signs: |
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Number of Symptoms | 7 |
OrphanetNr: | |
OMIM Id: |
616099
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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:0000653) | Sparse eyelashes | 58 / 7739 | ||||
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(HPO:0000535) | Sparse and thin eyebrow | 76 / 7739 | ||||
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(HPO:0002209) | Sparse scalp hair | 59 / 7739 | ||||
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(HPO:0002231) | Sparse body hair | 9 / 7739 | ||||
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(HPO:0002224) | Woolly hair | 26 / 7739 | ||||
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(HPO:0000982) | Palmoplantar keratoderma | 40 / 7739 | ||||
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(HPO:0040149) | Woolly scalp hair | rare [HPO:skoehler] | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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