Fukuda-Miyanomae-Nakata syndrome
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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11
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OrphanetNr:
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2060
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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 recessive 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:0000047)
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Hypospadias |
Very frequent [Orphanet]
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250 / 7739
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2
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(HPO:0002705)
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High, narrow palate |
Very frequent [Orphanet]
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308 / 7739
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3
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(HPO:0006482)
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Abnormality of dental morphology |
Very frequent [Orphanet]
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81 / 7739
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4
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(HPO:0000682)
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Abnormality of dental enamel |
Very frequent [Orphanet]
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102 / 7739
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5
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(HPO:0006660)
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Aplastic clavicles |
Very frequent [Orphanet]
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70 / 7739
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6
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(HPO:0002750)
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Delayed skeletal maturation |
Very frequent [Orphanet]
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250 / 7739
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7
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(HPO:0001850)
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Abnormality of the tarsal bones |
Very frequent [Orphanet]
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40 / 7739
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8
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(HPO:0005257)
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Thoracic hypoplasia |
Very frequent [Orphanet]
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79 / 7739
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9
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(HPO:0002023)
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Anal atresia |
Very frequent [Orphanet]
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135 / 7739
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10
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(HPO:0001231)
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Abnormality of the fingernails |
Very frequent [Orphanet]
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116 / 7739
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11
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(HPO:0000964)
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Eczema |
Very frequent [Orphanet]
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81 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |