Oley syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Congenital hypotrichosis - milia |
| Number of Symptoms | 2 |
| OrphanetNr: | 79458 |
| OMIM Id: |
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| ICD-10: |
L98.8 |
| 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: |
Congenital absence of the eyebrow/eyelashes
-Rare eye disease -Rare genetic disease Genetic skin tumor -Rare genetic disease Malformation syndrome with skin/mucosae involvement -Rare developmental defect during embryogenesis -Rare genetic disease Malignant tumor of palpebral epidermis -Rare eye disease -Rare genetic disease Rare skin tumor or hamartoma -Rare oncologic disease -Rare skin disease |
Symptom Information:
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(HPO:0001006) | Hypotrichosis | Very frequent [Orphanet] | 219 / 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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