PUBIC BONE DYSPLASIA
General Information (adopted from Orphanet):
Synonyms, Signs: |
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Number of Symptoms | 3 |
OrphanetNr: | |
OMIM Id: |
178350
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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 inheritance [Omim] |
Age of onset: |
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Disease classification (adopted from Orphanet):
Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0000924) | Abnormality of the skeletal system | 114 / 7739 | ||||
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(OMIM) | Pubic bone dysplasia and/or delayed ossification | 1 / 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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Additional Information:
Clinical Description OMIM |
Dysplasia and/or delayed ossification of the pubic bones at the symphysis, without other anomalies, was reported by Schey and Levin (1971) in an adult male and all 3 of his children (males). This condition may mimic diastasis of ... |