Rasmussen-Johnsen-Thomsen syndrome
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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6
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OrphanetNr:
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3023
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OMIM Id:
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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 dominant 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:0000316)
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Hypertelorism |
Frequent [Orphanet]
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644 / 7739
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2
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(HPO:0000486)
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Strabismus |
Occasional [Orphanet]
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576 / 7739
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3
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(HPO:0000365)
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Hearing impairment |
Frequent [Orphanet]
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539 / 7739
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4
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(HPO:0000372)
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Abnormality of the auditory canal |
Very frequent [Orphanet]
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49 / 7739
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5
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(HPO:0000954)
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Single transverse palmar crease |
Occasional [Orphanet]
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162 / 7739
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6
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(HPO:0004209)
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Clinodactyly of the 5th finger |
Frequent [Orphanet]
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288 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |