METAPHYSEAL MODELING ABNORMALITY, SKIN LESIONS, AND SPASTIC PARAPLEGIA
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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5
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OrphanetNr:
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OMIM Id:
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250500
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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:
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Prevalence:
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No data available.
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Inheritance:
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Autosomal recessive
[Omim]
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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No data available.
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1
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(HPO:0001258)
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Spastic paraplegia |
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97 / 7739
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2
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(HPO:0011001)
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Increased bone mineral density |
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78 / 7739
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3
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(HPO:0000951)
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Abnormality of the skin |
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147 / 7739
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4
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(OMIM)
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Plaque-like skin lesions |
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1 / 7739
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5
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(OMIM)
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Metaphyseal modeling |
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1 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |