Amelo-onycho-hypohidrotic syndrome
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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22
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OrphanetNr:
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1028
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OMIM Id:
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104570
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ICD-10:
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Q82.4
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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
[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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Ectodermal dysplasia syndrome
-Rare developmental defect during embryogenesis
-Rare genetic disease
-Rare skin disease
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1
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(HPO:0000695)
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Natal tooth |
Frequent [Orphanet]
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42 / 7739
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2
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(HPO:0006482)
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Abnormality of dental morphology |
Frequent [Orphanet]
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81 / 7739
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3
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(HPO:0011073)
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Abnormality of dental color |
Very frequent [Orphanet]
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24 / 7739
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4
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(HPO:0006291)
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Marked delay in eruption of permanent teeth |
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1 / 7739
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5
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(HPO:0009804)
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Reduced number of teeth |
Frequent [Orphanet]
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137 / 7739
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6
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(HPO:0000684)
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Delayed eruption of teeth |
Frequent [Orphanet]
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117 / 7739
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7
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(HPO:0000232)
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Everted lower lip vermilion |
Occasional [Orphanet]
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90 / 7739
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8
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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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9
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(HPO:0000966)
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Hypohidrosis |
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41 / 7739
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10
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(HPO:0001806)
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Onycholysis |
Very frequent [Orphanet]
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20 / 7739
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11
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(HPO:0001595)
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Abnormality of the hair |
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89 / 7739
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12
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(HPO:0000962)
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Hyperkeratosis |
Very frequent [Orphanet]
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216 / 7739
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13
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(HPO:0001800)
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Hypoplastic toenails |
Very frequent [Orphanet]
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74 / 7739
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14
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(HPO:0000958)
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Dry skin |
Frequent [Orphanet]
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152 / 7739
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15
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(HPO:0001051)
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Seborrheic dermatitis |
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25 / 7739
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16
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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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17
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(HPO:0002213)
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Fine hair |
Frequent [Orphanet]
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77 / 7739
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18
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(HPO:0004370)
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Abnormality of temperature regulation |
Very frequent [Orphanet]
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58 / 7739
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19
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(OMIM)
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Hypocalicifed-hypoplastic enamel |
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1 / 7739
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20
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(OMIM)
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Yellow-brown tooth discoloration |
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1 / 7739
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21
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(OMIM)
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Normal hair |
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7 / 7739
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22
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(HPO:0000006)
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Autosomal dominant inheritance |
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2518 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |