SKELETAL DYSPLASIA WITH DELAYED EPIPHYSEAL AND CARPAL BONE OSSIFICATION
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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12
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OrphanetNr:
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OMIM Id:
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182255
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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
[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:0005819)
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Short middle phalanx of finger |
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28 / 7739
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2
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(HPO:0004209)
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Clinodactyly of the 5th finger |
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288 / 7739
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3
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(HPO:0002652)
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Skeletal dysplasia |
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113 / 7739
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4
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(HPO:0010579)
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Cone-shaped epiphysis |
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54 / 7739
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5
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(HPO:0009844)
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Broad middle phalanx of finger |
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2 / 7739
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6
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(HPO:0001216)
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Delayed ossification of carpal bones |
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30 / 7739
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7
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(HPO:0010034)
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Short 1st metacarpal |
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19 / 7739
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8
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(HPO:0002663)
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Delayed epiphyseal ossification |
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21 / 7739
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9
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(HPO:0004322)
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Short stature |
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1232 / 7739
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10
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(OMIM)
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Abnormally short and broad middle phalanges |
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1 / 7739
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11
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(HPO:0000006)
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Autosomal dominant inheritance |
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2518 / 7739
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12
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(OMIM)
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Delayed epiphyseal and carpal bone ossification |
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1 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |