RUSSELL-SILVER SYNDROME, X-LINKED
General Information (adopted from Orphanet):
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Synonyms, Signs:
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RUSSELL-SILVER-LIKE SYNDROME WITH SKIN PIGMENTATION
PARTINGTON SYNDROME
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Number of Symptoms
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4
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OrphanetNr:
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OMIM Id:
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312780
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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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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:0000325)
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Triangular face |
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91 / 7739
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2
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(HPO:0001511)
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Intrauterine growth retardation |
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358 / 7739
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3
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(HPO:0000957)
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Cafe-au-lait spot |
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84 / 7739
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4
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(OMIM)
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Achromatic skin areas of trunk and limbs |
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1 / 7739
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ClinVar (via SNiPA)
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Variation |
Clinical significance |
Reference |