OSTEOMALACIA, SCLEROSING, WITH CEREBRAL CALCIFICATION
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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8
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OrphanetNr:
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OMIM Id:
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259660
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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
[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:0008497)
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Congenital craniofacial dysostosis |
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1 / 7739
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2
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(HPO:0002749)
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Osteomalacia |
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24 / 7739
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3
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(HPO:0005849)
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Diffuse cerebral calcification |
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9 / 7739
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4
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(HPO:0006647)
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Congenital microthorax |
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1 / 7739
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5
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(HPO:0005789)
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Generalized osteosclerosis |
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10 / 7739
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6
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(OMIM)
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Marked osteoidosis on bone sections |
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1 / 7739
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7
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(HPO:0000007)
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Autosomal recessive inheritance |
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2538 / 7739
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8
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(OMIM)
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Mineralization defect |
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1 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |