Radius absent - anogenital anomalies
General Information (adopted from Orphanet):
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Synonyms, Signs:
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RADIAL APLASIA AND ANOGENITAL ANOMALIES
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Number of Symptoms
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10
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OrphanetNr:
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3016
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OMIM Id:
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312190
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ICD-10:
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UMLs:
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C1839410
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MeSH:
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C535281
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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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X-linked recessive 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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Syndrome with limb reduction defects
-Rare bone disease
-Rare developmental defect during embryogenesis
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1
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(HPO:0003244)
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Penile hypospadias |
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4 / 7739
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2
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(HPO:0000047)
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Hypospadias |
Frequent [Orphanet]
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250 / 7739
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3
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(HPO:0003974)
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Absent radius |
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26 / 7739
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4
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(HPO:0002818)
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Abnormality of the radius |
Very frequent [Orphanet]
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96 / 7739
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5
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(HPO:0009380)
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Aplasia of the fingers |
Very frequent [Orphanet]
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51 / 7739
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6
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(HPO:0001562)
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Oligohydramnios |
Very frequent [Orphanet]
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75 / 7739
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7
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(HPO:0002023)
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Anal atresia |
Frequent [Orphanet]
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135 / 7739
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8
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(HPO:0001417)
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X-linked inheritance |
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173 / 7739
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9
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(OMIM)
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Normal legs |
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1 / 7739
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10
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(HPO:0000238)
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Hydrocephalus |
Very frequent [Orphanet]
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278 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |