Ulerythema ophryogenesis
General Information (adopted from Orphanet):
Synonyms, Signs: |
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Number of Symptoms | 7 |
OrphanetNr: | 3406 |
OMIM Id: |
604093
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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: |
Autosomal dominant Not applicable [Orphanet] |
Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Keratosis pilaris atrophicans
-Rare genetic disease -Rare skin disease |
Symptom Information:
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(HPO:0000534) | Abnormality of the eyebrow | Very frequent [Orphanet] | 39 / 7739 | |||
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(HPO:0000987) | Atypical scarring of skin | Very frequent [Orphanet] | 58 / 7739 | |||
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(HPO:0011123) | Inflammatory abnormality of the skin | Very frequent [Orphanet] | 10 / 7739 | |||
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(HPO:0000962) | Hyperkeratosis | Very frequent [Orphanet] | 216 / 7739 | |||
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(HPO:0008065) | Aplasia/Hypoplasia of the skin | Very frequent [Orphanet] | 81 / 7739 | |||
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(HPO:0001596) | Alopecia | Occasional [Orphanet] | 162 / 7739 | |||
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(HPO:0030350) | Erythematous papule | Very frequent [Orphanet] | 123 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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