Congenital anonychia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Anonychia |
| Number of Symptoms | 6 |
| OrphanetNr: | 79143 |
| OMIM Id: |
107000
206800 614149 |
| ICD-10: |
Q84.3 |
| 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: |
Isolated nail anomaly
-Rare genetic disease -Rare skin disease Malformation syndrome with skin/mucosae involvement -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
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(HPO:0001374) | Congenital hip dislocation | 51 / 7739 | ||||
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(HPO:0009884) | Tapered distal phalanges of finger | rare [HPO:skoehler] | 4 / 7739 | |||
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(HPO:0002164) | Nail dysplasia | 82 / 7739 | ||||
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(HPO:0001798) | Anonychia | 28 / 7739 | ||||
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(HPO:0008404) | Nail dystrophy | 89 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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